Handbook of Children With Special Health Care Needs

Handbook of Children with Special Health Care Needs

David Hollar Editor

Handbook of Children with Special Health Care Needs

1 C

Editor David Hollar University of North Carolina Chapel Hill NC, USA

ISBN 978-1-4614-2334-8 ISBN 978-1-4614-2335-5 (eBook) DOI 10.1007/978-1-4614-2335-5 Springer New York Dordrecht Heidelberg London Library of Congress Control Number: 2012940410 © Springer Science+Business Media New York 2012 All rights reserved. This work may not be translated or copied in whole or in part without the written permission of the publisher (Springer Science+Business Media, LLC, 233 Spring Street, New York, NY 10013, USA), except for brief excerpts in connection with reviews or scholarly analysis. Use in connection with any form of information storage and retrieval, electronic adaptation, computer software, or by similar or dissimilar methodology now known or hereafter developed is forbidden. The use in this publication of trade names, trademarks, service marks, and similar terms, even if they are not identified as such, is not to be taken as an expression of opinion as to whether or not they are subject to proprietary rights. Printed on acid-free paper Springer is part of Springer Science+Business Media (www.springer.com)

For all of our and your children, everywhere, and per Antoine de Saint-Exupery’s Le Petit Prince dedication to Leon Werth, for each of us and you, when we were (are) children.

Preface

Children with special health care needs (CSHCN), including children with disabilities, represent approximately 20% of all children. They comprise a considerable extent of human variation, with their principal general distinguishing characteristic being that they need additional educational, health, medical, and assistive services so that they can live optimal lives. Whereas some of their conditions are severe, drastically limiting their potential, they are children, and we are committed to developing research and services that will help them to have happy, successful lives and to become leaders in our society. In this book, 41 international experts on CSHCN have prepared chapters describing various aspects of disability policy, research, treatments, and interventions. The purpose of this handbook is to provide the many researchers, policy developers, consumer advocates, and families of CSHCN with resources to further their work. The topics are by no means exhaustive nor cover every type of disability or special health care need. Furthermore, the chapters are provided in no particular order of importance, although I have arranged them in a general flow of thematic areas, starting with policy, progressing through various conditions and contextual approaches for interventions, and concluding with special topics and the important emphasis on the medical home, the continuous, lifelong tracking of health and development that is critical for positive health outcomes of CSHCN, even for all of us. Donna Petersen gets us started with an overview of CSHCN and public health policy in Chap. 1. In Chap. 2, Carol Page and Patricia Quattlebaum describe severe communication disorders and their treatment, conditions which affect many children but which may or may not attenuate with child development. Andrew Martin follows in Chap. 3 with a comprehensive discussion of a major behavioral condition, Attention Deficit Hyperactivity Disorder (ADHD), which is increasing worldwide. Martin interweaves this discussion with intervention applications that involve the rich educational research literature on promoting children’s positive psychological self-worth. Sunil Karande complements this chapter with a strong medical perspective on ADHD diagnosis and treatment in Chap. 4. Ann I. Alriksson-Schmidt and Judy K. Thibadeau from CDC provide Chap. 5 on mobility limitations in CSHCN. Chaps. 6–9 address sensory vii

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disabilities starting with Irma M. Munoz-Baell, Carlos Alvarez-Dardet, M. Teresa Ruiz, and Emilio Ferreiro-Lago, who present deaf education from a deaf culture advocacy perspective (Chap. 6). Jugnoo Rahi and Lola Solebo describe childhood eye disorders and visual impairment (Chap. 7), then Diane Whitaker and Elana Scheiner present specific approaches to evaluating infants and school children for visual disabilities (Chap. 8). Dental health often is overlooked for CSHCN, so Nancy J. Murray and Mary Anderson Hartley discuss oral health access issues for CSHCN in Chap. 9. Tuberculosis often is overlooked among major, deadly diseases despite the facts that it kills more children than most other diseases combined and that approximately 30% of humans have been exposed to the bacterium. In Chap. 10, Elisabetta Walters, Elizabeth Lutge, and Robert P. Gie provide a sobering description of tuberculosis among children in southern Africa and issues involved in testing, diagnosing, and long-term treatment of the disease. In Chap. 11, Yann Mikaeloff discusses diagnosis and treatments for CSHCN with multiple sclerosis. In Chap. 12, Jacquelyn Bertrand and Elizabeth Parra Dang from CDC provide a thorough overview of diagnosis and treatment issues for fetal alcohol spectrum disorders, which vary in extent but impact affected children for their entire lives. Chapters 13–15 cover newborn screening for genetic, metabolic, and birth defect conditions. Bent Nørgaard Pedersen and David Michael Hougaard begin with a comprehensive discussion of newborn-screening programs and how laboratory tandem mass spectrometry and pediatrician follow-up visits can rapidly diagnosis and treat genetic and metabolic disorders following the heel stick blood test that is collected at birth for newborn infants in many countries. David Hollar discusses many of the various types of genetic and metabolic conditions in Chap. 14, most importantly listing resources for these conditions, including the very useful online Mendelian Inheritance in Man (OMIM®) website, initially developed by Dr. Viktor McKusick and currently updated daily by Johns Hopkins University and the United States National Library of Medicine National Center for Biotechnology Information. Hollar continues in Chap. 15 with birth defects screened by the National Birth Defects Prevention Network, and he provides an unusual fusion of psychological and biological development that serves as a basis for trying to understand the origins of many types of disabilities. For studying CSHCN, Willi Horner-Johnson and Kathleen Newton (Chap. 16) describe several major databases with information on CSHCN that have been useful for studying public health and policy issues, with many of these databases being publicly available in a deidentified format by request. Jennifer L. Rowland covers an emerging important topic, secondary conditions in youth with disabilities (Chap. 17), secondary conditions being generally defined as physical and/or psychological conditions that arise due to the child’s primary disability condition or due to others’ misperceptions or environmental barriers to the primary disability. In Chap. 18, Jo Ann Ford, Judson Workman, Navid Masoudi, Mary Huber, Theresa Mayer, and Karel Pancocha discuss risk factors faced by adolescents with disabilities, most notably substance abuse, and they provide a unique perspective on school-based prevention programming with their prevention

Preface

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Preface

through alternative learning styles (PALS) curriculum. I had the privilege of working with this group and this curriculum during 2001–2003. David Hollar and Arun Karpur describe proper approaches with examples for conducting research involving CSHCN, especially protecting study participants’ rights and confidentiality, in Chap. 19. In Chap. 20, Chad A. Rose, Stephen Allison, and Cynthia G. Simpson discuss the critical topic of bullying, for which many CSHCN are victimized, and they evaluate various approaches to reduce risks for bullying. Finishing the handbook, Renee M. Turchi and Marie Y. Mann emphasize the medical home concept and continuity of care for CSHCN and their families in order to have optimal health outcomes. Hollar concludes a brief Chap. 22 with a summary of major concepts from the chapters. We hope that you will find the information in this handbook useful for advocating positive health and life outcomes for CSHCN. This handbook resulted from outstanding teamwork among an international group of coauthors, all experts on Children with Special Health Care Needs (CSHCN) within the overlapping fields of public health, education, and medicine. I thank each of them for sharing their expertise. I thank editors Khristine Queja and Diana Alkema at Springer for originally suggesting the idea for this handbook, editors Bill Tucker and Ian Marvinney for facilitating early implementation of the project, and Kathryn Hiler and Shreya Bhattacharya for proofing and final formatting of the handbook. Many thanks go to John Hattie, Dennis Moore, Sanjay Asrani, and numerous colleagues with the Disability and Maternal and Child Health Divisions of the American Public Health Association as well as Springer’s Maternal and Child Health Journal for topic suggestions and recommendations of coauthors for the handbook. I express special gratitude to my family, Brooke, Paige, Virginia, and Roselyn, for their faith, patience, support, and interest in this project. August, 2011

David Hollar

Contents

1 P olicy: Its History, Intentions, and Consequences for Children with Special Health Care Needs �� 1 Donna Petersen 2 S evere Communication Disorders �� 23 Carol A. Page and Patricia D. Quattlebaum 3 A ttention-Deficit/Hyperactivity Disorder (ADHD), Perceived Competence, and Self-Worth: Evidence and Implications for Students and Practitioners �� 47 Andrew J. Martin 4 Q uality of Life in Children Diagnosed with Specific Learning Disability or Attention-Deficit/Hyperactivity Disorder �� 73 Sunil Karande 5 C hildren and Adolescents with Mobility Limitations �� 87 Ann I. Alriksson-Schmidt and Judy K. Thibadeau 6 R ethinking Deaf Learners’ Education: A Human Rights Issue �� 107 Irma M. Munoz-Baell, Carlos Alvarez-Dardet, M. Teresa Ruiz-Cantero, and Emilio Ferreiro-Lago 7 C hildhood Eye Disorders and Visual Impairment �� 131 Jugnoo S. Rahi and A. Lola Solebo 8 E valuating School-Aged Children with Visual Disabilities �� 153 Diane B. Whitaker and Elana M. Scheiner 9 O ral Health Access Issues for Children with Special Health Care Needs �� 169 Nancy J. Murray and Mary Anderson Hartley 10 Tuberculosis: The Special Needs of Children �� 189 Elisabetta Walters, Elizabeth Lutge, and Robert P. Gie 11 Children with Multiple Sclerosis �� 213 Yann Mikaeloff

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12 F etal Alcohol Spectrum Disorders: Review of Teratogenicity, Diagnosis and Treatment Issues �� 231 Jacquelyn Bertrand and Elizabeth Parra Dang 13 N ewborn Screening for Congenital Disorders in Routine and Research �� 259 Bent Nørgaard Pedersen and David Michael Hougaard 14 G enetic and Metabolic Conditions for Children with Special Health Care Needs �� 271 David Hollar 15 D evelopment from Conception through Adolescence: Physiological and Psychosocial Factors Impacting Children with Special Health Care Needs �� 289 David Hollar 16 U sing Population-Based Survey Data to Monitor the Health of Children and Youth with Special Health Care Needs and Disabilities �� 307 Willi Horner-Johnson and Kathleen Newton 17 S econdary Conditions in Youth with Disabilities �� 335 Jennifer L. Rowland 18 A ccessible Substance Abuse Prevention for All Children �� 353 Jo Ann Ford, Judson Workman, Navid Masoudi, Mary Huber, Theresa Mayer, and Karel Pancocha 19 R esearch Methods and Epidemiology for Children with Special Health Care Needs �� 369 David Hollar and Arun Karpur 20 A ddressing Bullying Among Students with Disabilities Within a Multi-Tier Educational Environment �� 383 Chad A. Rose, Stephen Allison, and Cynthia G. Simpson 21 B uilding a Medical Home for Children and Youth with Special Health Care Needs �� 399 Renee M. Turchi and Marie Y. Mann 22 E pilogue: Advancing Health Outcomes and Social Participation for CSHCN �� 419 David Hollar Glossary�� 423 Index�� 425

Contents

Author Information

Stephen Allison, MD, Ph.D. is the Clinical Director of the Child and Adolescent Mental Health Service at the teaching hospital of Flinders University in South Australia. He trained as a psychiatrist and works in the pediatric consultation liaison service at Flinders Medical Centre in Adelaide. His clinical practice includes the multidisciplinary assessment and collaborative care of CSHCN across pediatric and educational settings. He has a particular interest in the development of supportive networks for the families of children with disabilities. His research has focused on the predictors of suicide risk among high-school students and school effects on adolescent depression. These studies have been funded within national programs for suicide prevention and improving primary care in Australia. More recently he has been part of a collaborative group investigating school bullying as a risk factor for depression and poorer health-related quality of life. The group is developing coordinated school and clinical approaches for the treatment of adolescent depression in the context of bullying victimization. He has published numerous program evaluations in mental health and is involved in the national benchmarking of child and adolescent mental health in Australia. Ann I. Alriksson-Schmidt, Ph.D., MSPH is a developmental psychologist at the National Center on Birth Defects and Developmental Disabilities at the Centers for Disease Control and Prevention. Her main research interests involve children and adolescents with disabilities, in particular disabilities that limit mobility. Most of her recent work has focused on individuals growing up with spina bifida. Dr. Alriksson-Schmidt has spent the last 5 years of her career at Centers for Disease Control and Prevention but in 2010 she accepted a position at the Department of Orthopedics at Lund University in her native Sweden. Carlos Alvarez-Dardet, Ph.D. is Professor of Public Health at the University of Alicante, and Director of the Public Policies and Health Observatory. At present, his main interests include social justice and minorities rights. He served as President of the Spanish Public Health Association (1990–1994), President of the European Public Health Association (1994–1997), and Editor in Chief of the Journal of Epidemiology and Community Health (1998–2008).

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Jacquelyn Bertrand, MD, Ph.D. is a child psychologist with the Centers for Disease Control and Prevention (CDC), National Center on Birth Defects and Developmental Disabilities, Fetal Alcohol Syndrome Prevention Team. She earned her undergraduate degrees at the University of Massachusetts, received her research training at the University of Connecticut, and completed her clinical training at Emory University. Dr. Bertrand has conducted federally funded research on the neurodevelopment of children, including children with genetic disorders, children exposed to environmental toxins, and children with prenatal exposure to alcohol. Since 1996, she has worked at the Centers for Disease Control and Prevention conducting original research, providing oversight to funded projects and participating in policy efforts to improve the understanding, identification, and treatment of children with developmental disabilities. Dr. Bertrand has published many scientific articles and presented nationally and internationally on developmental disabilities including Fetal Alcohol Spectrum Disorders. Finally, Dr. Bertrand is a member of several local and national committees devoted to improving prevention of prenatal exposure to alcohol, and improving the lives of affected children and their families. Elizabeth Parra Dang, MD, MPH is a behavioral scientist with the Centers for Disease Control and Prevention (CDC), National Center on Birth Defects and Developmental Disabilities, Fetal Alcohol Syndrome Prevention Team. Elizabeth began working in the area of fetal alcohol spectrum disorders (FASDs) in 2001 and since that time, has served as the technical monitor for various projects involving the prevention of FASDs through health education, health communication, and program implementation and evaluation. In addition, Elizabeth is involved in various health communication initiatives for the FAS Prevention Team. Elizabeth also serves on the Advisory Council of the Georgia chapter of the National Organization on Fetal Alcohol Syndrome (NOFAS). Prior to working with the FAS Prevention Team, Elizabeth worked in CDC’s National Immunization Program, CDC’s National Center for Injury Prevention and Control, and with the Indian Health Service in the area of injury prevention. Elizabeth has a B.A. in Psychology from Oglethorpe University and an M.P.H. in Behavioral Science from Emory University’s Rollins School of Public Health. Emilio Ferreiro-Lago, Ph.D. is currently responsible for the coordination of the Spanish Sign Language Policy Unit at the CNSE Foundation for the Suppression of Communication Barriers, a Spanish R&D NGO. His recent work focuses primarily on deaf bilingual education and the normative aspects of sign language promotion. Trained as a Generalist Teacher for primary education at the University of Vigo, he has worked in Deaf advocacy service for the past 20 years. From 2003 to 2006, he was Vice-President of the Spanish National Confederation of Deaf People. Jo Ann Ford, MRC is the Associate Director, and a cofounder, of the Substance Abuse Resources and Disability Issues (SARDI) program at Wright State University’s Boonshoft School of Medicine in Dayton, OH. She has a Master’s degree in Rehabilitation Counseling from Wright State University

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and a Bachelor’s degree in Education from Bowling Green State University in OH. Ms. Ford has served as Principle Investigator on several projects relating to HIV, disability, and/or substance abuse prevention and treatment. She has written and cowritten a number of consumer-oriented manuals, brochures, and other materials as well as manuals and transcripts for professionals. Previously, she has worked as a counselor in adolescent inpatient substance abuse treatment and adult outpatient substance abuse treatment. She has also served as a counselor in an intervention program for DUI offenders and as a prevention educator in a number of community-based programs. She also has worked in a number of rehabilitation settings providing work adjustment and personal adjustment services to people with disabilities. Her interests include substance abuse and violence issues for women with disabilities; developing alternative treatment programming for people with different learning needs, and health care for people with disabilities. Robert P. Gie, MD is professor and a principal specialist in the Department of Pediatrics and Child Health at Stellenbosch University, South Africa. He is the head of the Pediatric Intensive Care Unit and Pediatric Pulmonology. His research interest is the diagnosis and treatment of childhood intrathoracic tuberculosis. He has published three books, seven chapters in books and more than 140 articles in peer-reviewed journals. Mary Anderson Hartley, BA is the manager of the Disability Healthcare Initiative at ACHIEVA, working on access, policy, and education solutions for individuals with disabilities. Mary is the mother of a child with autism. A graduate of Ohio University’s Honors Tutorial College, she has spent the majority of her career in corporate and university research, in business and community projects to facilitate problem solving. Since 2004, ACHIEVA has been successfully working on access solutions to increase care for children and adults with disabilities in Pennsylvania. The Disability Healthcare Initiative works with a stakeholder group comprised individuals with disabilities and their families, dental professionals, government agencies, educators, insurance companies, foundations, and advocates. Information about the Disability Healthcare Initiative can be found at http://www.achieva.info/disabilityhealthcareinitiative.php. David W. Hollar, Jr., Ph.D., MS ([email protected]) is an Assistant Professor in the University of North Carolina School of Medicine, Chapel Hill. His focal areas are epidemiological research on risk behaviors and diagnostic health conditions for persons with disabilities, using secondary longitudinal clinical and public health databases. Prior to UNC, he was a faculty member, project manager, and evaluation specialist for HRSA and AHRQ-funded electronic medical records projects for children with genetic or metabolic conditions at the University of Tennessee Graduate School of Medicine in Knoxville. He received the Ph.D. from UNC-Greensboro, where he received the graduate school’s outstanding dissertation award in 1997, as well as MS and BS degrees in Molecular Biology and Biology (Honors), respectively from Vanderbilt University and UNC-Chapel Hill. He completed postdoctoral research at the National Institute on Disability and Rehabilita-

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tion Research (NIDRR)-funded Rehabilitation Research and Training Center on Substance Use and Employment located at Wright State University, Dayton, Ohio. He has extensive training and applied experience with multivariate statistical analyses and mathematical modeling, including Structural Equation Modeling and Hierarchical Linear Modeling. He has contributed to both Healthy People 2010 and 2020, Disability and Secondary Conditions, and is an active member of the American Public Health Association (Disability Section), and the editorial board of the Maternal and Child Health Journal, published by Springer. Willi Horner-Johnson, Ph.D. is a Research Assistant Professor of Public Health and Preventive Medicine at OHSU. Her research is focused on health promotion for people with disabilities and on studying disability-related disparities in health and access to care. Dr. Horner-Johnson has served as Epidemiologist for the Oregon Office on Disability and Health since 2002. In this role, she recently presented data from the Oregon Healthy Teens survey on health risks and health needs among youth with disabilities and chronic conditions. She is currently Principal Investigator of Project Intersect: Addressing Health Disparities at the Intersection of Race, Ethnicity, and Disability, funded by a cooperative agreement between the National Center on Birth Defects and Developmental Disabilities and the Association of University Centers on Disabilities. She is also directing a subaward from the University of New Hampshire for the Health and Health Care Disparities among Individuals with Disabilities project funded by the National Institute on Disability and Rehabilitation Research. Dr. Horner-Johnson’s other research interests include measurement of health-related quality of life among adults with disabilities. In the past, she has conducted research and training on attitudes toward and maltreatment of people with disabilities. Dr. HornerJohnson received her Ph.D. in Community Psychology from the University of Illinois at Chicago and completed a postdoctoral fellowship in disabilities and health at OHSU. Since coming to OHSU, she has been active in the public health field in Oregon and nationally. In 2009, she received a New Investigator Award from the Disability Section of the American Public Health Association. David Michael Hougaard, MD, D.Sci. is a physician and research scientist with the Section of Neonatal Screening and Hormones, Department of Clinical Biochemistry and Immunology, Statens Serum Institut, Artillerivej, Denmark. He is head of the section on Neonatal Screening and Hormones. He has extensive experience with newborn screening and tandem mass spectrometry, and he has published widely on these topics. Mary Huber, Ph.D. is Director of Research and Evaluation at the National Center on Family Homelessness in Needham, MA. She was formerly a research fellow for the University of Michigan’s Addiction Research Center (UMARC). She received her Ph.D. in Educational Psychology from the University of Washington and completed a postdoctoral fellowship in Medical Rehabilitation Research in the Department of Physical Medicine and Rehabilitation at the University of Michigan in 1997. She worked for Solution

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Point, a health care outcomes company, as a methodologist providing technical support to hospitals and health care organizations. Her graduate work has been a combination of her clinical interests and background in the rehabilitation of persons with disabilities and her technical expertise in measurement, statistics and research design. She has had numerous consulting positions including Washington Research Institute, National Rehabilitation Hospital Research Center, and Paralyzed Veterans of America. The focus of her publications has been in the areas of psychosocial aspects of disability, health outcomes, and improving research methods within the health care field. Sunil Karande, MD (Pediatrics), DCH, FIAP is Professor of Pediatrics and In-Charge of the Learning Disability Clinic at the Department of Pediatrics, Seth Gordhandas Sunderdas Medical College and King Edward VII Memorial Hospital, Mumbai, India which is also his alma mater. He has been working in the field of learning disabilities for the last 12 years and has published 12 original articles and three Editorials related to this field in peer-reviewed journals which are indexed on Pub Med/Medline. His recent research is on quality of life of children with specific learning disabilities and on recollections of learning-disabled adolescents of their schooling years. Since 2007 he has been a Fellow of the International Academy for Research in Learning Disabilities, USA. In the year 2009, he was elected as a Fellow of Indian Academy of Pediatrics. Since the year 2008, he is an Associate Editor of the “Indian Journal of Pediatrics”. For the year 2011, he is a National Advisory Board Member of “Indian Pediatrics”, the official journal of the Indian Academy of Pediatrics. Over the years he has been a Reviewer for several international journals such as Acta Paediatrica, African Health Sciences, American Journal of Medical Genetics, BMC Family Practice, BMC Infectious Diseases, BMC Pediatrics, British Journal of Clinical Pharmacology, Child and Adolescent Psychiatry and Mental Health, Emerging Infectious Diseases, European Journal of Pediatrics, Italian Journal of Pediatrics, Patient Education and Counseling Pediatrics, and Pediatric Rehabilitation; and for several Indian journals such as Indian Journal of Community Medicine, Indian Journal of Medical Research, Indian Journal of Medical Sciences, Indian Journal of Pediatrics, Indian Pediatrics, International Journal of Ayurveda Research, Journal of Postgraduate Medicine and Neurology India ([email protected]; Tel (Office): 91-22-24107559; 91-22-65182624). Arun Karpur, M.B.B.S., MD, M.P.H. is a medical doctor from India and has a Master’s degree in Public Health (Epidemiology Major) from University of South Florida, Tampa, Florida. Dr. Karpur is currently working as Extension Faculty for the Model Transition Project, within the Employment and Disability Institute, ILR School at Cornell University. Previously, Dr. Karpur worked as a Research Faculty in the Department of Child and Family Studies at the Florida Mental Health Institute, University of South Florida. His current research interests include program evaluation of transition programs, impact assessment of various strategies in transition, and longitudinal analysis of existing administrative databases to follow postsecondary outcomes for young people with disabilities. Dr. Karpur has also developed several transition-tracking systems for youth with disabilities, e.g., Transition

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of Adulthood Program Information System (TAPIS), Transition Evaluation Tracker. Dr. Karpur currently holds a license to practice medicine in India. He worked in the areas of reproductive and child health, infectious disease epidemiology, and HIV/AIDS prevention and care research in India. He represented the India team at International AIDS Conference in Barcelona, Spain, 2002. Elizabeth Lutge, MD, Ph.D. is a medical doctor with postgraduate qualifications in epidemiology and public health, and is a Fellow of the College of Public Health Medicine of South Africa. She works as a senior researcher at the Health Systems Trust, a nongovernmental organization engaged in health systems research and development in South Africa ([email protected] (www.hst.org.za). Marie Y. Mann, MD, MPH, FAAP is a pediatrician, program administrator, and research scientist with the Genetic Services Branch, Maternal and Child Health Bureau, United States Health Resources Services Administration (HRSA). She has extensive experience in pediatric health care and has published widely on public health advocacy for CSHCN. She has overseen projects related to the development of medical homes across the United States, including improved access to health care services, advancement of newborn-screening programs, and utilization of electronic medical records to enhance health care system interoperabilities. Dr. Mann is a fellow of the American Academy of Pediatrics and is active in numerous national public health organizations. Andrew J. Martin, Ph.D. is Professorial Research Fellow in the Faculty of Education and Social Work at the University of Sydney. His research interests include motivation, engagement, achievement, and quantitative research methods. Requests for further information about Chap. 3 can be made to Professor Andrew J. Martin, Faculty of Education and Social Work, A35— Education Building, University of Sydney, NSW 2006, Australia. E-Mail: [email protected]. Phone: + 61 2 9351 6273. Fax: + 61 2 9351 2606. Navid Masoudi, Ph.D. has a doctorate in inclusive education for children with Down syndrome from Queen’s University Belfast. She also holds a BS and an M.A. in Speech and Language Pathology from Tehran University of Social Welfare Rehabilitation Sciences. She had 8 years experience of working as a therapist and 2 years as a university clinical supervisor before she started her Ph.D. program. Her interest in inclusive education stemmed from working with children with Down syndrome during her career both in special and mainstream schools in her homeland, Iran. She received a full academic scholarship from Queen’s University Belfast for her Ph.D. study. Dr. Masoudi has conducted research in various areas including phonological features of stop consonants production in youth with hearing loss, inclusive education for children with Down syndrome, alcohol and drug abuse prevention among middle-school students, and unsuccessful case closure in Vocational Rehabilitation Services. The paper on unsuccessful case closure in Vocational Rehabilitation Service, in which she was a coauthor, was accepted to be published in Journal of Applied Rehabilitation Counseling (2011).

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Theresa Mayer, M.Ed. is a consultant with the PALS program at SARDI, Wright State University. She has a Bachelor’s degree from Ohio State University in special education and a Master’s degree from The University of Northern Colorado in the education of the multihandicapped. She taught students who were multihandicapped for 8 years. She quit teaching after being involved in an automobile accident, which caused a spinal cord injury. After the accident, Ms. Mayer spent several years in rehabilitation rebuilding her strength. She then spent her time raising her children, coordinating an afterschool enrichment program, doing disability awareness programs for the different schools, and working with a committee on accessibility to make her local community more accessible to people with disabilities. Ms. Mayer has been a strong advocate for people with disabilities and has worked with several projects in a variety of capacities to assure appropriateness of research, training, and dissemination activities. Yann Mikaeloff, MD, Ph.D. is a pediatrician and researcher who specializes in neuropediatrics with Hôpital Bicetre, the medical faculty of the University of Paris-Sud, and the INSERM research center on epidemiology in France. He has published extensively on multiple sclerosis and other neuropathological conditions experienced by CSHCN ([email protected]). Irma M. Munoz-Baell, Ph.D. is a Senior Lecturer in General Linguistics and a public health researcher at the University of Alicante. With a diverse background in philosophy and arts, language pathology and therapy, and public health in United Kingdom and Spain, she has more than 80 conference presentations and published works. Her research interests at present focus on the health of minority language/disadvantaged groups; with an emphasis on the intersection of deaf bilingual education, inclusive education and school health promotion at the national and international levels; the implications in public policies of the social/human-rights-based model of disability; and sign linguistics. Nancy J. Murray, M.Ed. is the president of The Arc of Greater Pittsburgh. She has 30 years of experience in the disabilities field in the areas of public policy, advocacy, supports coordination, medical care, and state government serving people with disabilities and their families. She has conducted hundreds of seminars/workshops and has written numerous articles for families and professionals on disability issues. Nancy received her bachelor’s degree in psychology from Gettysburg College and her master’s in child development from the University of Pittsburgh. Nancy is the mother of two adults with intellectual disabilities. Kathleen Newton, MPH, BS is a student in the Oregon Masters of Public Health Program, Epidemiology and Biostatistics track, at Oregon Health & Science University in Portland, Oregon. She has completed coursework in Disability and Public Health and in Maternal and Child Health. She is currently a research intern with the Oregon Hemophilia Treatment Center. Ms. Newton has worked as a program evaluator and research assistant in children’s health, mental health, and child health policy research.

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Carol A. Page, Ph.D. is the Director of the South Carolina Assistive Technology Program at the USC School of Medicine, Center for Disability Resources. She received her Ph.D. degree in speech-language pathology from the University of South Carolina and her assistive technology practitioner certificate from the Rehabilitation Engineering and Assistive Technology Society of North America. She has extensive experience in providing literacy and augmentative and alternative communication trainings, demonstrations, and consultations to children and adults with disabilities and special needs. Karel Pancocha, Ph.D. is an assistant professor in the Department of Special Education at Masaryk University, Brno, Czech Republic. During 2009, he was a Fullbright Scholar studying substance use risk factors among individuals with disabilities at the Wright State University Boonshoft School of Medicine, where he conducted research with Dr. Dennis Moore and Ms. Jo Ann Ford. Dr. Pancocha has used the PALS prevention activities at the Kocianka Elementary School in the Czech Republic. Bent Nørgaard Pedersen, MD got his MD from Aarhus University in 1965. After 5 years of clinical positions he was employed at Department of Clinical Biochemistry, Rigshospitalet, University of Copenhagen, where he got his specialist license in laboratory medicine in 1976 and received his Doctorate of Medical Science from Copenhagen University in 1976. In 1996, he became the first Professor in Biochemical Screening at Copenhagen University. After an employment as Consultant and Head of Department at Department of Clinical Biochemistry at Sonderborg Hospital (1976–1983) he was offered the position as Head of Department of Clinical Biochemistry at Statens Serum Institute in Copehagen (1984 to retirement in 2008). Nørgaard Pedersen has been in charge of the Danish Neonatal-Screening Program since 1984, but also the Prenatal-Screening Program since the early 1970s. From the early 1970s his main research has been in fetal and maternal pathophysiology as documented by his more than 320 peer-reviewed publications. In neonatal screening, Dr. Nørgaard Pedersen has developed many new immunoassays and has been a pioneer in biobank studies looking for new marker for old and new disorders. He has been a key person for use and regulation of the Danish Newborn-Screening Biobank and his setup has been a model worldwide. In July 2010, he was awarded the Guthrie Price 2009. He retired in 2008, but he is still part-time employed at Statens Serum Institute and actively involved in several national and international studies. Donna Petersen, MHS, ScD is Dean of the College of Public Health and Professor of Global Health at the University of South Florida. She earned her master’s and doctoral degrees in maternal and child health from the Johns Hopkins School of Public Health. She has held faculty and senior leadership positions at the University of Alabama at Birmingham School of Public Health, at the University of Minnesota, School of Public Health and was Director of the Division of Family Health at the Minnesota Department of Health. She is the author of numerous publications, book chapters and a textbook on needs assessment in public health. She is a frequent lecturer on topics related to maternal and child health, health care reform, and systems

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change and leadership, and has provided extensive technical assistance and training to more than 25 state health departments in the areas of needs assessment, data system development, systems-level accountability and the development of population-based indicators. She has served on numerous boards, commissions and task forces and is currently Editor-in-Chief of the Maternal and Child Health Journal, immediate Past-President of the National Board of Public Health Examiners and Chair of the Education Committee for the Association of Schools of Public Health. She is also leading the undergraduate public health learning outcomes project for ASPH and serves on the Council on Education for Public Health. Locally, she is a member of the Tampa Bay Partnership’s Health Task Force and the Hillsborough County Health Care Advisory Board. She has been honored for her work by the American Public Health Association, the Association of Teachers of Maternal and Child Health, the National Healthy Mothers, Healthy Babies Coalition, Delta Omega National Public Health Honor Society, and the National Coalition for Excellence in MCH Epidemiology. Patricia D. Quattlebaum, M.S.P., CCC-SLP received her Master of Speech-Language Pathology degree from the University of South Carolina. Her work experience includes teaching at both the undergraduate and graduate levels, direct service provision in community clinics, and supervision of practicum students. She has been a member of the interdisciplinary assessment team at the USC School of Medicine’s Developmental Pediatric Clinic for many years and is a staff member at the South Carolina Assistive Technology Program. Throughout her career, she has actively promoted the use of augmentative communication in children with severe speech and language delays, and she coauthored A Practical Guide to Augmentative and Alternative Communication in 1999. Jugnoo Rahi, MSc, Ph.D., FRCOphth is a practicing ophthalmologist who holds academic and clinical posts at the University College London Institute of Child Health (UCL ICH)/Great Ormond Street Hospital (GOS) and the UCL Institute of Ophthalmology (IO)/Moorfields Eye Hospital (MEH). Professor Rahi has established a multidisciplinary epidemiological research group within UCL which is taking forward research on eye disease and visual impairment in childhood and on chronic complex eye diseases of adult onset which originate in early life, with a research portfolio encompassing classical, life-course and genetic epidemiology, and health services research. She has also contributed to national-level ophthalmic research through her roles as epidemiologist to the British Ophthalmic Surveillance Unit and member of key committees of the Royal College of Ophthalmologists. Chad A. Rose, Ph.D. is an assistant professor of special education in the Department of Language, Literacy and Special Populations at Sam Houston State University. Prior to his employment at Sam Houston State University, Dr. Rose served as a secondary special education teacher in the Fort Wayne Community School System (Indiana) for 5 years. Dr. Rose received a BS in elementary education and MS in special education from the University of Saint Francis (Fort Wayne, IN), and a Ph.D. in special education from the

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University of Illinois at Urbana-Champaign. His research focuses on unique predictive and protective factors associated with the involvement of students with disabilities in the bully dynamic and bully prevention efforts within a multi-tiered framework. He has published book chapters and recent articles in Remedial and Special Education and Educational Psychology exploring the interplay between special education identification and bully perpetration and victimization. Dr. Rose was nominated as the Higher Education Consortium for Special Education Virtual Intern, William Chandler Bagley Scholar, Albin and Young Scholar in 2009, and he was the recipient of the University of Saint Francis Distinguished Young Alumnus award in 2010. Jennifer L. Rowland, Ph.D., PT, MPH is an Assistant Professor in the Department of Disability and Human Development at the University of Illinois at Chicago. Dr. Rowland is a licensed physical therapist, and her research and teaching focuses on secondary condition prevention for people with disabling conditions as well as for those aging into disability. She has received funding from the Christopher and Dana Reeve Foundation, the National Institute on Disability and Rehabilitation Research, and the Midwest Roybal Center for Health Promotion at the University of Illinois at Chicago to investigate the benefits of exercise and health promotion on daily living and independence for people with disabling conditions. Dr. Rowland has held several leadership positions with the Disability Section of the American Public Health Association, and she has been widely recognized for her research into secondary conditions confronting persons with disabilities. M. Teresa Ruiz-Cantero, Ph.D. is Professor of Public Health at the University of Alicante, and Director of the Public Health Research Group at the University of Alicante. She is currently directing several research projects financed by public agencies. Her main research interests at present include disabilities, gender health inequalities, and epidemiology of chronic diseases. Elana Scheiner, OD is in private practice in Apex, NC. She provides lowvision care to the Governor Morehead School for the Blind, Duke Eye Center, North Carolina Division of Services for the Blind and adults and children with visual impairments throughout the state. Dr. Scheiner graduated from the New England College of Optometry in Boston, MA and completed her residency training in visual rehabilitation at the West Haven VA in West Haven, CT. She is a member of the American Optometric Association Low Vision Section as well as the North Carolina State Optometric Society. Her contact email is [email protected]. Cynthia G. Simpson, Ph.D. has more than 18 years of experience in the public and private sector as a preschool teacher, special education teacher, elementary teacher, educational diagnostician, and administrator. She is currently in the higher education sector. She maintains an active role in the education and childcare industry and as an educational consultant in the areas of assessment and inclusive practices. Her professional responsibilities include serving on the National Council for Accreditation of Teacher Education (NCATE)/National Association of Young Children (NAEYC) Review Panel, as well as holding the position of State Advisor to the Texas Educational

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Diagnostician Association. She also represents college teachers as the Vice President of Legislative Affairs for Texas Association of College Teachers. Cynthia has many publications to her credit and is a featured speaker at the international, national, and state level. She is currently an associate professor in the College of Education at Sam Houston State University where she teaches courses in assessment and Special Education. Cynthia has received numerous honors and awards and was recently awarded the 2008 Susan Phillips Gorin Award, the highest honor that can be bestowed on a professional member of the Council for Exceptional Children by its student membership. Her honors also include the 2007 Katheryn Varner Award (awarded by Texas Council for Exceptional Children) and the 2009 Wilma Jo Bush Award. Cynthia received her doctoral degree from Texas A&M University and her undergraduate degree from Texas State University—San Marcos. Lola Solebo, BSc., MRCOphth is a trainee ophthalmologist with an interest in pediatric ophthalmic epidemiology. Her research, based at UCL Institute of Child Health, was on congenital and infantile cataract. As the coordinator for a national prospective epidemiological study of outcomes following cataract surgery in children ≤ 2-years-old, she impacted on local-level clinical policy on the management of these children, and managed a national collaborative research network made up of more than 160 consultant ophthalmic surgeons. She has also been involved in national clinical policy through contributions to the Department of Health National Screening Committee. Judy K. Thibadeau, MN, RN works as a Health Scientist in the National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention. She coordinates the National Spina Bifida Program which encompasses projects and research to improve the lives of individuals affected by spina bifida and their families. Her activities include: research in the areas of transition, care coordination, incontinence, and the natural history of spina bifida in children; the development of a Spina Bifida Electronic Medical Record; the development and implementation of a National Spina Bifida Patient Registry; and the development of a lifecourse logic model for transition with the goals of health, independence, and participation. Renee M. Turchi, MD, MPH, FAAP completed her undergraduate work at Cornell University and medical school at Medical College of Pennsylvania. Dr. Turchi completed residency and chief residency at St. Christopher’s Hospital for Children in Philadelphia. Subsequently, she attended the Robert Wood Johnson Clinical Scholars Program at Johns Hopkins University where she conferred her Master’s in Public Health. Her research and clinical work focus on children and youth with special health care needs (CYSHCN). Renee is faculty at Drexel University School of Public Health and Drexel University College of Medicine. In addition, she is the Director of the Pennsylvania Medical Home Program (EPIC IC), a statewide quality improvement program for pediatric practices across Pennsylvania. Dr. Turchi is Medical Director of Special Programs at St. Christopher’s Hospital for Children, where she oversees grants and program development and practices. Her research and clinical work around care coordination and CSHCN have been presented and published in multiple national forums. Dr. Turchi is a

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fellow of the American Academy of Pediatrics and the AAP Subcommittee on Children with Disabilities, and she serves on the Executive Board, Family Voices, a major advocacy group for CSHCN. Elisabetta Walters, MD is a medical doctor with postgraduate qualifications in pediatrics, and is a Fellow of the College of Pediatricians of South Africa. She works as a researcher at the Desmond Tutu TB Centre at Stellenbosch University, South Africa, a leading institution in the area of tuberculosis research. She conducted and published her MMed research study in the field of pediatric HIV and TB, which remain the focus of her current research ([email protected] (www.sun.ac.za/tb). Diane Beaseley Whitaker, OD is a comprehensive optometrist with a specialization in low-vision rehabilitation and is an Assistant Professor of Ophthalmology and Service Chief for Low Vision Rehabilitation at the Duke University Eye Center, Durham, North Carolina. Dr. Whitaker graduated from the University of Houston College of Optometry and completed externship training at Womack Army Medical Center and Cape Fear Eye Associates, PA. Her experience includes low-vision training at the Lighthouse for the Blind in Houston, Texas, and she provided low-vision services at the University of North Carolina at Chapel Hill Department of Ophthalmology. Dr. Whitaker also has extensive experience with refractive and cataract surgery care. She is a member of the American Optometric Association Low Vision Section and the North Carolina State Optometric Society. Dr. Whitaker is interested in research designed to measure outcomes of low vision intervention and the psychosocial aspects of visual disability. Specifically, she is interested in the impact of early detection and treatment for clinical and subclinical depression on the vision rehabilitation process. Judson W. Workman, MS received his B.A. in Psychology from Wright State University and his MS in Industrial/Organizational Psychology from the University of Akron. He has worked as the research manager for the Team Training and Spatial Orientation Laboratories within the Department of Psychology at WSU. He is currently a Research Associate with WSU’s SARDI Program within the Boonshoft School of Medicine. At SARDI, Mr. Workman has worked as a program evaluator for several community-based projects providing Hepatitis C risk reduction, HIV prevention, and substance abuse treatment. He is also the program coordinator of the PALS program, an alcohol, tobacco and other drug (ATOD) prevention program targeting middle-school youth with alternative learning styles as well as students with disabilities. He is currently a Registered Applicant with the Ohio Chemical Dependency Credentialing Board, pursuing his prevention specialist credential. He has published articles and conducted numerous presentations on topics including leadership emergence in small-group settings; training methods for complex skill development; substance abuse prevention education; and the evaluation of the PALS substance abuse prevention program. His interests include the integration of substance abuse prevention materials with HIV and Hepatitis C risk reduction information. His goal is to meet the prevention and service needs of underserved populations including minorities, women experiencing domestic violence, and youth with disabilities/alternative learning styles.

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Policy: Its History, Intentions, and Consequences for Children with Special Health Care Needs Donna Petersen

Abstract

Children who have special health care needs are a vulnerable population developmentally, socially, and politically. The programs and services they depend on to promote their optimal growth and development are subject to the vagaries of public policy and its often inexplicable development process. At the same time, children with special health care needs stand to benefit greatly from policies that enable the provision of services and supports to them and their families. In this chapter, we will describe policy, the evolution of policies for this population of children over time in a variety of arenas, policy themes, and future avenues for policy direction. Abbreviations

AMA American Medical Association EPSDT Early Periodic Screening, Diagnosis, and Treatment IDEA Individuals with Disabilities Education Act IFSP Individualized Family Service Plan OBRA Omnibus Budget Reconciliation Act PKU Phenylketonuria PL Public Law SCHIP State Children’s Health Insurance Program

1.1 Introduction Policy, in general, is simply the statement of a principle to guide decisions and actions toward a particular objective. Policy represents a decision process where choices and modes of action D. Petersen () University of South Florida, 13210 Bruce B. Downs Boulevard, MDC 56, Tampa, FL 33612, USA e-mail: [email protected]

are made from numerous alternatives (MerriamWebster 2010). This appears straightforward but the development of public policy is typically anything but. In theory, policy is formulated in a rational cycle beginning with the setting of the agenda (or the identification of an issue or problem) followed by the formulation of the policy (development of the strategy or solution), adoption, implementation, and evaluation. In reality, policy development is often haphazard, compelled, or influenced by advancements in scien-

D. Hollar (ed.), Handbook of Children with Special Health Care Needs, DOI 10.1007/978-1-4614-2335-5_1, © Springer Science+Business Media New York 2012

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tific knowledge, advocacy on the part of various constituents, fiscal opportunities or constraints, and political exigencies. Policy may achieve its results and affect important social change, it may fall short of its intentions, or it may create unintended consequences that necessitate further policy development or amendments to existing policy. We see all of this and more in a review of major policy initiatives for the population of children with special health care needs in the United States over the past century. As the overarching responsibility for this population of children rests within the federal-state partnership for maternal and child health services authorized under Title V of the Social Security Act, we approach this review within this context. Many policies and laws exist within the realms of education and child welfare in addition to public health but none has the broad mandate of Title V, “to assure the health of all… children” (U.S. Congress 1981). The following review will consider a chronology over the past century of policy debates and actions for the population of children with special health care needs, addressing myriad health, education, child welfare and related service and system needs, highlighting persistent themes and the varying roles of governmental agencies, providers, advocates, and parents. The chapter will revisit the policy themes revealed through this review and conclude with a discussion of future avenues for policy action.

1.2 Policy Roots The idea that children could constitute a compelling societal interest emerged in the United States in the middle to late-nineteenth century. The first children’s hospital in the nation opened in Philadelphia in 1855 and others soon followed in Boston and New York. In 1860, Dr. Abraham Jacobi, now known as the father of pediatrics, opened the first children’s clinic at the New York Medical College, though it took nearly 20 years, until 1879 for him and others to persuade the American Medical Association (AMA) to establish a Section on the Diseases of Children. Jacobi went on to help develop the American Pediatric So-

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ciety in 1888, serving as its first president and, in 1897, the State of Minnesota became the first state to appropriate funds and organize a program for handicapped children (Alexander et al. 2002). These efforts, perhaps isolated, still represented important movements toward the idea that the health and well-being of children was of public interest and coupled with other movements (the advent of milk stations and settlement houses in large urban areas, and growing concerns over the institutionalization of dependent and neglected children in orphanages) likely encouraged President Theodore Roosevelt to convene the First White House Conference on Dependent Children in 1909. The outcomes of this conference were sweeping and led to a number of important policy initiatives, most notably the creation of the Children’s Bureau in the U.S. Department of Labor in 1912, the first organized effort at the federal level directed at the well-being of children (American Academy of Pediatrics 2002; Sheps and Alexander 2001; Lesser 1985; Miller 1988). Although today we view this policy act as prescient in establishing the foundation for decades of focused attention to the needs of children it was not without controversy. Whether the well-being of the nation’s children was a societal responsibility or strictly the purview of parental discretion was hotly debated. In addition, concerns over the federal government meddling in affairs rightly left to the states further contributed to the 6 year debate over enactment of the Children’s Bureau. In the end, the act was propelled by the social reformers of the progressive era who argued that the health and vigor of children was important for the progress of society (Takanishi 1978). Lillian Wald speaking in support of the act noted “… whereas the Federal Government concerned itself with the conservation of material wealth, mines and forests, hogs and lobsters, and had long since established bureaus to supply information concerning them, citizens who desired instruction and guidance for the conservation and protection of the children of the nation had no responsible governmental body to which to appeal” (Wald 1971, pp. 757–758). In the end, those supporting a societal role and a federal role

1 Policy: Its History, Intentions, and Consequences for Children with Special Health Care Needs

in promoting the interests of children prevailed, but the scope of the Children’s Bureau was limited; neither authorization nor appropriation was given for the direct provision of services. Instead, the Children’s Bureau was charged to investigate and report upon all matters pertaining to the welfare of children and child life among all classes of our people, which they did with great gusto, investigating infant mortality, child labor, desertion, juvenile delinquency, illegal transportation of children, and sex offenses against children (U.S. Statutes 1911–1912). The systematic collection and reporting of data through a series of rigorous studies enabled the leaders of the Children’s Bureau to advocate for a series of policies, enacted by Congress, around each of these issues (Magee 1985). In doing so, these leaders established the idea of data-based decision making in matters of child health and welfare, what we see continued today in the statutory requirements under Title V for states to conduct periodic needs assessments and establish programs and policies based on these data for the promotion and protection of the health of children and families (U.S. Congress 1989).

1.3 Policy Takes Shape 1.3.1 The Sheppard Towner Act of 1921 The investigative work of the Children’s Bureau supported the passage of the Sheppard-Towner Act in 1921, which provided the first federal grants-in-aid to states to support health and related services for mothers and infants (U.S. Congress 1921; Margolis et al. 1997). Like the initial creation of the Children’s Bureau, this act was fraught with controversy, again over the same issues (parental rights and state’s rights) but heightened by the clear intent of the law to support the establishment of offices within each state for the organization of services to families. Roundly denounced as socialistic, yet it was passed, likely due to the fact that it was the first piece of national legislation to be proposed following the passage of the nineteenth amendment which gave

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women the right to vote and members feared that this new voting bloc would not treat kindly congressional representatives who did not support issues of clear interest to women (Brosco 2010). Sheppard-Towner was important in that it established the principle of public responsibility for the nation’s children, even going so far as to require that services be made available to all residents of the state, and further accelerated the establishment of offices of maternal and child health in state health departments (in some cases even leading to the creation of state health departments in which to house such an office). A concerted lobbying effort on the parts of the AMA (against governmental interference in the private practice of medicine), the Catholic Church (concerned about competition with Catholic Charities) and the Public Health Service (against medical services organized by the Department of Labor) ultimately brought down the Sheppard-Towner Act. In fact, the AMA’s opposition to the act despite strong support from its pediatric section led the pediatricians to split off and form the American Academy of Pediatrics which today remains one of the strongest advocacy organizations for children’s health issues in the nation. Though ultimately repealed in 1929, the idea that the federal government could support states through a grants-in-aid program was firmly rooted and the Children’s Bureau continued to investigate and report on… providing data that enabled the Bureau to continue to advocate around conditions of children, particularly following the stock market crash of 1929 and the Great Depression. The U.S. Secretary of Labor, Frances Perkins, sent the then-director of the Children’s Bureau, Katharine Lenroot, to assure that language specific to the needs of children was included in the Social Security Act being drafted by the Committee on Economic Security convened by President Franklin Roosevelt (Witte 1963). Though the authorizing language was simple and concise, Title V firmly established what had been put in motion by the Children’s Bureau and later through the Sheppard-Towner Act: grants-in-aid to states to support maternal and child health services.

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1.3.2 Maternal and Child Health Services, Title V of the Social Security Act of 1935 While children with special health care needs benefit from any policy directed at children, they did not emerge as a particular policy focus until the enactment of the Social Security Act in 1935, within which Title V explicitly created Crippled Children’s Services programs and instructed states to insure services for locating crippled children as well as providing services and facilities for diagnosis, hospitalization and aftercare (Hitchcock and Mulvihill 2010; U.S. Congress 1935). The funding formula for the Crippled Children’s Services component of Title V included an equal share to each state as well as an allotment based on the number of children served, providing an incentive to reach more children. In addition, states were to provide for cooperation with medical, health, nursing and welfare groups and organizations, and with the state vocational agency (Lesser 1985). Two policy principles are worth highlighting here, the first being the initial directive to, in essence, locate and treat what were then referred to as crippled children, suggesting that the initial focus was on those conditions that were easily identifiable, e.g., orthopedic conditions, cleft lip, and palate, etc. The second is the recognition, even at this early date, that children with special health care needs would of necessity encounter various organizations, professionals and programs in their attempts to receive needed services and supports, and that it would be this particular agency that would serve the necessary coordinating role among them all. While the debate over societal responsibility for children may have continued to rage, the suffering brought about by the Great Depression could not be ignored, nor could the needs of what were widely recognized as particularly vulnerable and dependent children, those with handicapping conditions. The societal safety net for children with special health care needs was thus born with the enactment of Title V of the Social Security Act in 1935. It is further worth noting that Title V also included a provision for direct funding to the Children’s Bureau, beyond that provided di-

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rectly to states, for demonstration projects to be conducted in cooperation with the states. This very important provision, together with the required state match, helped cement the idea of a federal-state partnership in continuing to advance knowledge around the effectiveness of various interventions. These “Part B” funds not only supported demonstration projects, but over time enabled the development of training programs and research efforts, both important to programs for children with special health care needs. Title V funding greatly accelerated the development of state programs for crippled children, the development of child health clinics, and training programs for specialists needed to serve these populations. Having a focus within each state on these children coupled with ongoing data collection by the Children’s Bureau led to the recognition that there were other conditions, less overtly obvious than orthopedic impairments that deserved similar attention. In 1937, Martha May Eliot, the then-director of the Crippled Children’s program within the Children’s Bureau argued specifically for children with rheumatic fever, rheumatic heart disease, and vision and hearing impairments as part of an attempt to create a national health program for mothers and children. Though any national health program was vigorously opposed by the AMA, the Children’s Bureau still managed to secure an increased appropriation through Title V to care for children with rheumatic heart disease. This policy act marked an important advancement in programs for crippled children that now included attention to chronic illnesses as well as physical handicaps (Hitchcock and Mulvihill 2010).

1.3.3 Aid to Dependent Children, Title IV of the Social Security Act of 1935 In helping to craft the Social Security Act in 1935, the leaders of the Children’s Bureau also sought, in addition to organizing maternal and child health services, to provide income assistance to children impoverished in the Great Depression. Title IV of the Social Security Act, Aid to De-


pendent Children, was designed to provide cash payments to mothers who needed support for their dependent children (Schmidt and Wallace 1994). The Social Security Act also served as the vehicle for the first federal legislation designed to promote welfare services for children needing special care, i.e., “homeless, dependent and neglected children and children in danger of becoming delinquent” (Oglesby 1988). The ChildWelfare Services language appeared in Part 3 of Title V (Parts 1 and 2 containing language around maternal and child health and crippled children’s services, respectively). Part 4 of Title V provided support to states to enhance programs of vocational rehabilitation for the physically disabled. Unlike the fierce debates that marked the enactment of the Children’s Bureau in 1912 and the Sheppard-Towner Act in 1921, there was strong and broad-based support for Title IV and V as indeed there was for the entire Social Security Act. The confluence of economic, social, and political realities associated with the Great Depression necessitated that the federal government take action. Issues of state’s rights were less prominent as were issues of individual freedoms and parental rights. Even the AMA acquiesced, as they were likely more concerned about fending off continuing attempts to create a national health insurance program (Witte 1963). The Social Security Act provided needed supports to a variety of constituent groups in the areas of income maintenance, social services and health but did not include a true national health insurance program. Despite various efforts over the years to establish such a program, advocates succeeded only in piecemeal approaches, like that described above. Title V was amended during the Second World War to provide emergency maternity and infancy services to the wives of enlisted servicemen, which had the unintended consequences of greatly improving hospital maternity care and establishing the principle of payment to hospitals for the actual costs of services delivered. Though the program was terminated at the end of the war, it successfully engaged the federal government, state health departments, hospitals, and providers in a national effort to provide publicly funded medical care to a large

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population of women and children (Alexander et al. 2002).

1.3.4 Mental Retardation The White House Conference on Children in 1950 (following the first successful conference in 1909, similar conferences were held every decade) focused on mental retardation and like earlier White House Conferences, the deliberations eventually led to new policy. The Children’s Bureau began to award funds for community mental health programs in the early-1950s (Schmidt and Wallace 1994) and in 1957, Congress again increased the appropriation to Title V, this time earmarking funds for clinical demonstration programs to serve children with mental retardation (Alexander et al. 2002). By 1963, Congress had created the first categorical program for the mentally retarded in PL 88-164, the Mental Retardation Facilities and Community Mental Health Centers Construction Act with an emphasis on community facilities for the care and treatment of this population (Oglesby 1988). These actions marked the second advancement in the population of children served by state programs for crippled children as they now attended to issues relating to developmental disorders, in this case, mental retardation. Attention to children with mental retardation was further facilitated by the development of a test for phenylketonuria, or PKU, the identification and subsequent treatment of which could prevent mental retardation. This scientific breakthrough led eventually to newborn screening programs for a variety of inborn errors of metabolism and other detectable genetic disorders toward the prevention of their negative sequela. Today, state health departments can screen for up to 30 core disorders and an additional 26 secondary conditions (American College of Medical Genetics 2006). The ability to detect PKU in blood drawn from a newborn further expanded the role of state Title V programs for crippled children both by encouraging a broadening of the program’s focus to all newborns and by requiring follow-up for all those screened positive in order to optimize the benefit of the screening test.

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Follow-up included referrals for further diagnostic testing and if positive, links to nutritional supplementation products, preventive care, and anticipatory guidance.

1.3.5 Developmental Disabilities Councils The idea that some “crippling” conditions could be prevented was heralded as a significant scientific advance but also raised some discomforting questions about persons whose conditions were not prevented and whether as a society, the safety net was providing sufficient support to them. Resource limitations often force sometimes painful policy discussions about the relative merits of investing in treatment for persons with existing conditions versus preventive approaches for future generations. Perhaps as a result of these discussions, the Developmental Disabilities Service and Facilities Construction Act was passed in 1970, creating Developmental Disabilities Councils in each state designed to advocate for and organize supports on behalf of persons with developmental disabilities. At that time, the definition was broadened from mental retardation to include other neurologic conditions that require long-term care. In related amendments to the Social Security Act, funds were appropriated to create University Affiliated Programs to provide community-based care and a locus for training specialty providers in the interdisciplinary care of children and adults with developmental disabilities and complex medical conditions (Oglesby 1988).

1.3.6 Medicare, Medicaid, and Amendments to the Social Security Act of 1965 Later amendments to Title V to establish Maternal and Infant Care and Children and Youth projects (PL 89-87) further established the principle of comprehensive service provision to defined populations. Interestingly, these amendments

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were made at the same time as the laws creating Medicare and Medicaid (Title XVIII and XIX, respectively) were added to the Social Security Act in 1965 as part of President Lyndon Johnson’s War on Poverty and the Great Society movement. Though Medicaid provided the greatest opportunity for improving access to health care for lowincome and disabled children by providing health care coverage, the law did not speak to the need for comprehensive care as did the amendments to Title V creating the Children and Youth Projects; Medicaid benefits were in fact limited primarily to acute medical care services and did not include preventive care. In addition, Medicaid eligibility was initially linked to eligibility for Aid to Families with Dependent Children, an often stricter eligibility standard than that observed by many state Title V programs. Here we see policy action creating opportunities for, but also challenges to, state Title V programs which now had to find the means to coordinate with a large and important new program but with a rather narrow focus, given the complexity of children’s health issues and the variety of their needs.

1.3.7 Head Start In addition to providing health care coverage to the elderly and low-income women and children through Medicare and Medicaid, the War on Poverty and the Great Society movement also focused generally on eliminating poverty. The Economic Opportunity Act of 1964 included a single line authorizing a new program focused on early childhood. Project Head Start was launched in 1965 as a summer program for low-income children between the ages of 3 and 5 years and quickly grew due to its wide popularity. Head Start was legislated in 1967 as Title V-A of the Economic Opportunity and Community Partnership Act. In addition to its focus on intellectual stimulation, Head Start programs included a focus on health and provided mechanisms for referrals to medical and dental services, nutritional evaluations, speech and developmental assessments, and vision and hearing screenings (Administration of


Children and Families 2010; Stubbs 1994). In addition to providing some of the earliest forms of early intervention for children at risk of developmental delays, as of 1974 Head Start sites were mandated to enroll and integrate at least 10% of children with handicaps in their service populations, meeting to some extent the needs of this population directly (Stubbs 1994). Also important as a policy innovation, Head Start encouraged parental involvement in every aspect of the program’s child development activities, health services, program planning, and operations.

1.3.8 Early Periodic Screening, Diagnosis, and Treatment (EPSDT) In response to concerns over Medicaid’s limited impact on children, in 1967, the Johnson administration submitted amendments to both Titles XIX (Medicaid) and V (Crippled Children’s Services) of the Social Security Act to create the Early and Periodic Screening, Diagnosis and Treatment Program, better known as EPSDT. EPSDT called for comprehensive physical and developmental exams, vision and hearing screening, laboratory tests, dental referral, immunizations, and payments for services covered by the state to increasing numbers of eligible children according to a periodicity schedule designed to conform to accepted standards of care (Saunders 1988). EPSDT encouraged states to locate and treat children eligible for Medicaid coverage and incentivized providers through enhanced reimbursements to include the full array of screening, diagnosis, and treatment provisions required in the law. At the same time, it is also likely that the enactment of Medicaid and the EPSDT provisions resulted in the expansion of community-based clinics and that the link to the Title V program for crippled children may have led to the growth in publicly organized and financed specialty clinics, fragmenting the overall health care system into pieces, one set for healthy children with private insurance, another set for low-income children with special health care needs.

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1.3.9 Supplemental Security Income, Title XVI of the Social Security Act In 1974, the Supplemental Security Income childhood disability program (Title XVI of the Social Security Act) began providing cash payments to low-income children with chronic and persistent disabilities. In addition, receipt of such cash payments in nearly every state also conferred Medicaid eligibility. In 1976, responsibility for the coordination of services for these children was given to the state Title V programs; each child was to have an Individualized Service Plan or ISP that described the services needed and how they would be coordinated. Though the program covered children only up to the age of 7 years, it provided important coverage for health care through Medicaid, a direct connection to services available through the state Crippled Children’s Services program and cash payments to defray other hidden costs of caring for children with disabilities. In 1981, when this program was folded into the MCH Services Block Grant, coverage was extended to children up to the age of 16 years (Farel 1997).

1.3.10 PL 94-142, Education for All Handicapped Children Act of 1975 Expanding definitions of handicapping conditions in children, greater success at early identification, diagnosis and treatment, efforts to keep children at home whenever possible, and recognition by the courts of the rights of handicapped children led to what has been termed a revolution in educational opportunities for children previously excluded from such opportunities. PL 94-142, the Education for All Handicapped Children Act enacted in 1975 required states to provide a free and appropriate public education to all handicapped children between the ages of 3 and 21 years, without regard to income or the severity of the condition. Such education included individualized instruction

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designed to meet the child’s needs and related services necessary to enable the child to benefit from the specialized instructional program. Eligible children included those children who were mentally retarded, seriously emotionally disturbed, speech, vision or hearing impaired, orthopedically impaired, multihandicapped, or learning disabled. Related services included school health services, physical therapy, occupational therapy, counseling services, medical services for diagnostic and evaluation purposes, and counseling and training for parents (Farel 1997; U.S. Department of Health and Human Services 1981). Each child was to have an Individualized Education Plan or IEP that spelled out the particular instructional and related service needs for that child. As was the case with Head Start the policy provisions linking development and education to health services likely provided access to children who had not previously enjoyed access to health care, yet the law did not require coordination with existing health programs (Ireys and Nelson 1992; Blackman 1994). PL 94-142 launched several important policy initiatives. States were to establish child find systems in order to locate, identify and evaluate every handicapped child in the state; evaluations were to be conducted in a nondiscriminatory manner; parents were given fundamental due process rights over the evaluation, placement and provision of services for their children; training was required for personnel involved in services to this population of children; and, services under the law were to be provided to every child, whether in public or private schools or facilities. The related services provision was also noteworthy in that it required states to establish mechanisms not only for the specialized instructional services required but for those additional services and supports necessary for children to benefit from the instruction. This provided an important impetus for further coordination and collaboration among education, welfare, Medicaid, and state Crippled Children’s Services programs, each of whom had different roles to play with regard to children with special health care needs (Blackman 1994).

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1.3.11 Omnibus Budget Reconciliation Act of 1981 A major policy shift took place in the early years of the Reagan administration, largely fueled by a powerful state’s rights agenda and the desire of the former governor to limit federal involvement in state decision making. With Congressional support, 21 separate federal programs were consolidated into four block grants, one of which was focused on maternal and child health. The Maternal and Child Health Services Block Grant consolidated the original Maternal and Child Health and Crippled Children’s Services components of Title V with separate grants for Supplemental Security Income Disabled Children’s Services, Hemophilia, Sudden Infant Death Syndrome, Prevention of Lead-Based Paint Poisoning, Genetic Diseases, and Adolescent Health Services (Oglesby 1988). Federal regulations around this new collection of programs were minimal, allowing states’ significant latitude in decision making based on the state’s particular needs. In keeping with this spirit, the overall funds were reduced 20% on the assumption that states would be more efficient if they did not have to meet cumbersome federal requirements. One unintended consequence of these two policy directives—one, to reduce federal reporting requirements and the other to reduce funding—was the significant reduction of data and assessment capacity in state programs and the subsequent diminution of the ability to investigate and report…, the very essence of what had allowed the Children’s Bureau to be so successful in its legislative advocacy. In addition, the absence of reporting requirements coupled with the lack of a required state plan led some state administrators to divert funds away from core maternal and child health mission areas. Perhaps as an indirect result, the emphasis of the federal government and states in the 1980s was on infant mortality and prenatal care for women, both of which could be monitored through birth and death records maintained by state offices of vital statistics and therefore used by advocates to hold the government accountable. The chronic lack of population-based data on children with handicapping conditions, however, did not stop advocates


from urging more services, better coordination, and support for children and their families.

1.3.12 Baby Doe US policy around parental rights was put to the test during the Reagan administration as a result of the passage of the Baby Doe amendment to the Child Abuse Act by Congress in 1984 (Moss 1987). Surgeon General C Everett Koop, a pediatric surgeon, argued before Congress that it was inappropriate to withhold life-saving treatment from seriously ill newborns regardless of the parent’s wishes or beliefs. Several highly publicized cases of such withholding of treatment fueled the debate and while parent’s rights advocates argued against the legislation, it ultimately passed. The law amended the definition of child abuse to include the deliberate withholding of fluids, food, and medically indicated treatment from disabled infants and required reporting of such abuse (via telephone hotlines installed in hospitals) and legal action to stop the abuse if necessary (Moss 1987). Organized opposition by hospitals, pediatricians and parents ultimately led to the law being struck down by the United States Supreme Court but in the meantime, parents forced to accept treatment for their seriously ill or handicapped newborns against their wishes questioned where the state was as these children grew and needed continued services and supports? (Alexander et al. 1999) This tension between the interests of parents and the interests of the state has been a common element in policy discourse around this population of children for decades. In addition, the technological advances that allowed seriously ill newborns to survive and the enthusiasm with which sophisticated medical services were provided were typically not followed by concomitant interest in the other services and supports families needed to survive over the lifetime of the child. Beyond the need for related therapies, families also found themselves needing home health care, transportation, home modifications, training, financial assistance, and respite care—services which were not only not covered by private or public insurance programs but were often neither

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available in the community nor easily accessed (U.S. Department of Health and Human Services 1981).

1.3.13 Medicaid Home and Community-Based Waivers Families with children with complex medical conditions who required hospitalization could, in some states, have income eligibility for Medicaid waived in order to obtain coverage for extended hospitalizations. However, at the time of discharge, income guidelines were reapplied and many families lost coverage. The result was that children were left in the hospital, institutionalized if you will, because their parents could not afford to keep them at home. Congress rectified this situation with amendments to Medicaid in the early-1980s allowing states to waive income eligibility for severely ill children if the cost of home-based services would not exceed those projected for a long-term care facility. Named after Katie Beckett, whose mother championed the need for these reforms, home, and community-based waivers allowed thousands of children to remain with their families rather than be institutionalized (Nelson 1994).

1.3.14 From Crippled Children to Children with Special Health Care Needs An important policy shift occurred in the mid1980s beginning with the change in the name of the Title V programs for Crippled Children’s Services to programs for Children with Special Health Care needs in recognition of both the breadth and depth of the population, its characteristics and its needs. Two back-to-back conferences and a report from the U.S. Surgeon General on children with special health care needs highlighted the importance of families, private providers and public programs coming together to comprehensively address the needs of children with special health care needs, and their families at the community level. Concern over increas-

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ing categorization and fragmentation of services led to the call for a national agenda for familycentered care that was community based, coordinated and culturally competent and that would encourage greater cooperation and collaboration between and among various sectors in order to assure children services necessary for their optimal growth and development in the least restrictive environment (Farel 1997; Hutchins 1997). The report further emphasized communication among providers toward more comprehensive care and greater involvement of families in health and education programming (Ireys 1988). In this way, the policy directive shifted importantly from a focus on specific services for a select group of children (those who were crippled or handicapped) to a broader interpretation of responsibility to develop systems and supports for an entire population of children who may need such services at various points in their lives regardless of diagnosis or condition (Nelson 1994).

1.3.15 PL 99-457, Reauthorization of the Education for All Handicapped Children Act Encouraged in part by the apparent success of PL 94-142 and an emerging body of evidence around early brain development, Congress amended the Education for All Handicapped Children Act in 1986 through PL 99-457 to include incentives for states to serve all children with handicapping conditions between the ages of 3 and 5 years through organized preschool programs, known as Part B and encouraged states to apply for funds to develop more extensive early intervention programs with the goal of eventually serving children from birth, known as Part H (Farel 1997). In 1990, consistent with similar changes in related legislation (e.g., Title V) the word handicapped was removed and the act was renamed the Individuals with Disabilities Education Act (IDEA). The early intervention component for infants and toddlers was strengthened and by 1995, every state extended eligibility from birth. States could choose the lead agency for Part H (typically, education, health, or social services) and were also

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required to establish interagency coordinating councils with significant involvement of parents. Each child served through the early intervention program was to have an Individualized Family Service Plan, or IFSP, defining clear goals and services to be provided by the health, education, and social service sectors. Like in PL 94-142, parents had clear due process rights and states were required to create mechanisms to assure prompt resolution of disputes.

1.3.16 Healthy People In 1979, the U.S. Surgeon General issued the report “Healthy People” and the first set of health objectives for the nation, intended to be achieved by 1990 (U.S. Department of Health and Human Services 1979, 1980). Healthy People advanced the notion of health promotion and disease prevention, largely in response to the epidemiologic shift from a predominantly infectious diseasebased morbidity pattern in the United States to an increasingly dominant chronic-disease pattern. Belief that many chronic illnesses were due to lifestyle factors (i.e., behaviors not conducive to good health such as smoking, poor diet, lack of exercise, and excessive use of alcohol and other substances) led to a new focus on health promotion. This first set of national objectives included several related to maternal and child health but none related to the population of children with special health care needs, not surprising given the focus on improving the health status of the general population. Despite the renewed attention to children with special health care needs during the 1980s, the national health objectives for the year 2000, issued in 1990, “Healthy People 2000” still did not include any specific objectives for this population (U.S. Department of Health and Human Services 1990). Healthy People 2000 was substantially more comprehensive than the original Healthy People, expanding from 5 areas of emphasis to 22 and including new areas around chronic illness, the prevention of birth defects and mental health but the focus remained on disease prevention and health promotion, consistent


with its overall intent. Not until Healthy People 2010 would we see a specific statement around children with special health care needs.

1.3.17 Omnibus Budget Reconciliation Act of 1989 Though children with special health care needs did not appear as a focal population in the national health objectives crafted in the late-1980s, they were prominently featured in several important policy directives in 1989. Calls from the Surgeon General, advocates for children including those with special health care needs and even states seeking greater controls led Congress to make significant changes to Title V in the Omnibus Budget Reconciliation Act of 1989 or OBRA 89 (U.S. Congress 1989). Noteworthy, states were now required to conduct comprehensive statewide assessments of need every 5 years and develop clear priorities and plans for the use of Title V funds; they were required to allocate at least 30% of the appropriation and the associated state match to children with special health care needs; and they were required to focus these funds on developing family-centered, community-based, coordinated systems of care for children with special health care needs and their families. These amendments restored to the legislative base critical investigate and report requirements, a focus on children with special health care needs, and accountability. Congress also amended Medicaid to require all states to cover pregnant women and children up to age of 6 years at 133% of the federal poverty level, providing an important source of health care financing for young children with special health care needs during critical periods of development when early intervention efforts can be most effective. In addition, OBRA 89 required that any medically necessary service required for treating a condition, identified through an EPSDT screen had to be provided, even if the service was not otherwise covered under the state plan (Farel 1997). To facilitate EPSDT enrollment and the provision of such services, Title V programs were mandated to coordinate with Medicaid,

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and the Secretary of the Department of Health and Human Services was directed to develop a simple application for use by multiple programs including Medicaid and Title V, WIC and Head Start among others (Margolis et al. 1997).

1.3.18 Medical Homes The 1980s also saw the rise of a movement toward medical homes for children. Though first mentioned in an American Academy of Pediatrics publication in 1967, it was not until Dr. Calvin Sia fully implemented the concept in Hawai’i that the idea took hold (Sia and Peter 1988; Sia et al. 2004). The medical home model arose out of the frustration families and providers experienced when attempting to organize comprehensive health and related services for their children. Children with special health care needs often had relatively good access to high-quality specialty care but had difficulty obtaining routine primary and preventive care. Children with multiple conditions often needed the services of multiple specialists and assuring relevant communication among them was a task often left to parents, ill equipped to translate highly technical information. Add to this the need to further coordinate among various therapists, school-based services and other supports such as transportation, translation, and respite care and the fact that many of these services were arranged or paid for by different programs, or not at all, and the situation for families often became overwhelming. Consistent with the historical role of pediatric societies in advocating for needed policy reforms, the American Academy of Pediatrics issued its first public policy statement on medical homes in 1992. This policy statement suggested that accessible, continuous, comprehensive, family-centered, coordinated, compassionate and culturally effective care must be provided by a designated physician, further suggesting that such physicians be reimbursed appropriately for assuming this important role in the care of children with special health care needs (American Academy of Pediatrics 1992, 2002). Till date, the lack of adequate reimbursement continues to

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challenge physicians willing to provide medical homes, yet calls for support of medical homes appear in the policy agendas of advocacy groups and governmental agency documents. Indeed, the groundswell of support from the Academy of Pediatrics, the Association of Maternal and Child Health Programs, Family Voices and the federal Maternal and Child Health Bureau likely led to children with special health care needs finally appearing in the decanal health objectives for the nation in 2000.

1.3.19 Healthy People 2010 In recognition of the potential for comprehensive, coordinated services to promote optimal growth, development and health of children and youth with special health care needs, Healthy People 2010, the third iteration of health objectives for the nation, for the first time included an explicit focus on children with special health care needs (U.S. Department of Health and Human Services 2000). Two objectives, 16-22 and 16-23 spoke directly to this population. 16-22, a developmental objective, seeks an “increase in the proportion of children with special health care needs who have access to a medical home” and 16-23 seeks to “increase the proportion of Territories and States that have service systems for children with special health care needs” (U.S. Department of Health and Human Services 2000). A third objective, 6-9, seeks to “increase the proportion of children and youth with disabilities who spend at least 80% of their time in regular education programs” reinforcing the need to link children and youth with disabilities to appropriate educational opportunities in order to promote their optimal development.

1.3.20 Transition Services Improvements in screening, diagnosis, and treatment over several decades dramatically changed the survival patterns of children with chronic illnesses and disabilities many of whom not only lived into adolescence but into adulthood. This

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shift has been noted by the inclusion of the word “youth” or “adolescence” in program eligibility language and has led to expansions in vocational rehabilitation programs and the development of transition programs for youth. Adolescents in general have additional developmental issues, most prominent of which is the need to pursue independence, that are just as true for those with special health care needs as they are for those youth without such needs. In addition, while an array of services and supports have been developed over the years for children with special health care needs in the medical, health, education, and social services arenas, few similar services have been established for adolescents and even fewer for adults. Transition programs designed to promote successful transition from adolescence to adulthood for this population thus have the added burden of assuring transition to adult health care, a transition that is complicated for adults with complex medical conditions that are of pediatric origin and for which adult health care providers have not been trained (Okinow 1994). In addition to the disconnect between pediatric and adult health care, which is a real problem for adolescents and young adults with special health care needs, the lack of continuous health care coverage is an equally serious concern. Finding a source of health insurance to cover the often costly array of specialty care needed is a challenge and there is virtually no support for the related services often required, such as various therapies, transportation, mental health, or home modifications. In addition, the challenge of finding meaningful employment and the need for a comprehensive coordinated system of care for this population becomes acutely apparent (Okinow 1994).

1.3.21 State Children’s Health Insurance Program, Title XXI of the Social Security Act In 1997, following failed attempts at national health care reform, advocates succeeded in persuading Congress to support an expansion of


health care coverage for children. Designed as a federal-state partnership, State Children’s Health Insurance Program (SCHIP) was the largest expansion of publicly funded insurance since the enactment of Medicare and Medicaid in the 1960s and was intended to provide coverage for children from families with incomes too high to allow them to qualify for Medicaid. Like other similar programs, states were given latitude in determining eligibility requirements, benefits packages, and administrative policies within broad federal guidelines and could link the programs to Medicaid or administer them separately. States were allowed to include comprehensive care coverage under SCHIP as a state option, though even with such coverage, benefit gaps remain for children with special health care needs covered under SCHIP programs (Rosenbaum 2008). While SCHIP (now known simply as Children’s Health Insurance Program or CHIP) increased health insurance coverage for children overall, the benefit package was less generous than that of most state Medicaid programs and did not include dental health, mental health, or enabling transportation coverage, often essential to children with special health care needs (Markus et al. 2004). If connected to the state’s Medicaid program, a wider array of services were typically made available and existing agreements between the state Medicaid program and the state Title V program were simply extended to children now covered under SCHIP. If the program were administered separately, state Title V programs had one more agency to deal with in attempting to secure coverage for basic services needed by children with special health care needs. Regardless of the extent of eligibility or the generosity of coverage, Title V programs remained the one source of flexible funding that allowed for investments in support of primary and specialty care systems for children (Markus et al. 2004). This is important in the policy milieu for children with special health care needs because even if universal health care coverage can be achieved in the United States, there remains a need to build systems, coordinated services, train providers, set standards and maintain accountability, all activities within the purview of Title V, the only legislation directed at the entire population of children.

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1.3.22 Patient Protection and Affordable Care Act After decades of attempts to reform the nation’s health care system toward something more accessible, more affordable, and more accountable, the 111th Congress enacted the Patient Protection and Affordable Care Act of 2010 (U.S. Congress 2010). This act contains provisions that should benefit children with special health care needs and their families including denying coverage for preexisting conditions, removing annual and lifetime benefit caps, and extending coverage of children on family policies to the age of 26 years. The Affordable Care Act further requires provision of preventive services with no cost sharing and very importantly for children with special health care needs, requires maintenance of current eligibility criteria and enrollment procedures for Medicaid and CHIP, which remain the major sources of health insurance coverage for children in the United States. The “no wrong door” policy is intended to reduce the administrative burden on families who often must apply separately to various programs to eventually find the one that works for them by allowing a single application for multiple programs which includes the children with special health care needs screener developed for the National Survey of Children with Special Health Care Needs. This added feature should more quickly identify children in need of special services and promote continuity across funders. The act further creates consumer assistance programs to help with enrollment, benefits counseling, education on rights and responsibilities, and help filing complaints and appeals. This feature could also be of benefit to families struggling to get timely, quality services for their children (Association of Maternal and Child Health Programs 2010). What is not yet known is the extent to which the Affordable Care Act can and will address the persistent inadequacies in the nation’s patchwork system for children with special health care needs: the problems of underinsurance, eligibility cutoffs, insufficient benefits, and the lack of coordination among complex system elements (Association of Maternal and Child Health Programs 2010).

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1.4 Policy Themes Though we owe a huge debt of gratitude to the visionary leaders who forged a pathway for a comprehensive system of services for children with special health care needs over 75 years ago, we have not yet realized their vision. The policy development and formulation process is influenced by various factors, some of which compete and are subject to debate and compromise. In the case of children with special health care needs, advancements in science, technology and medical care, evolving notions of the rights of parents and the responsibilities of the state and the nature of public programs designed to address specific issues of concern to policy-makers and the public, all shape the development and implementation of policy. Policy has developed for this population in an often haphazard way, within related but often disconnected sectors, organized through different laws administered through different federal agencies, with differing eligibility requirements, benefits and rights, implemented by individual states with varying degrees of enthusiasm, and with different sometimes competing constituencies. Till date, we do not have the single authority for a comprehensive system called for over the years in numerous scientific, professional and advocacy documents, and instead have to work within disparate policy frameworks to affect some type of local service system that supports children and families. In this section we will examine some of the factors contributing to this state of affairs, from the way the population has been defined and enumerated, to issues of state’s rights, individual rights and the preponderance of categorical (or vertical) policies versus comprehensive (or horizontal) policies.

1.4.1 Defining the Population of Children with Special Health Care Needs Over the past 100 years, the ways in which this population has been defined has shaped policy. Initially concerned with orthopedic conditions like those associated with polio, and in the wake

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of the growth of children’s hospitals and the development of pediatrics as a subspecialty of medicine, programs were designed to locate and treat conditions associated with crippling in children, hence the name Crippled Children’s Services. States were given monetary incentives to find more children. Later, advancements in medicine suggested that children with various diseases that led to chronic conditions, such as rheumatic heart fever, should also be treated and the desire for children to be intellectually stimulated and educated earlier warranted vision and hearing screening programs be added. State Crippled Children’s Services programs typically had lists of covered conditions, those for which clinical, hospital and rehabilitative services would be provided and many state established clinics for the purposes of identifying, screening and diagnosing children in order to render them eligible for services. The enactment of Medicaid and subsequent EPSDT provisions established another mechanism for finding eligible children and providing comprehensive services to meet their needs. Education policy defined handicapped children as those who needed assistance to learn and established a third system to find children eligible for services. As the policy landscape became more complex and families were forced to navigate an ever-complicated labyrinth of programs, children with a greater variety of conditions sought assistance from state Title V programs and case management or care coordination services were expanded in the array of available supports. Technological advances that enabled smaller and earlier babies to survive led to high-risk infant follow-up programs which further fueled the idea that not only were there children with obvious conditions that impaired normal growth and development but that there were also children at risk for such conditions. The initial notion of at risk linked to medical conditions at birth eventually grew to include social and environmental risk, taking into account a growing body of evidence linking adolescent parenthood, inadequate education, poor housing, and other conditions associated with poverty to physical and developmental conditions of children.


By 1981, the Select Panel for the Promotion of Child Health defined chronically impaired children as those who were chronically ill, physically handicapped, mentally retarded, emotionally disturbed, or multihandicapped, reflecting the accepted notion that impairments of children included physical, medical, social, and emotional challenges (U.S. Department of Health and Human Services 1981). Various experts argued that definitions based on diagnosable conditions were too restrictive and that children should be defined by their functional abilities or limitations regardless of diagnosis (Stein and Jessop 1982; Perrin et al. 1993). Today, the definition of children with special health care needs promulgated by the federal Maternal and Child Health Bureau is very broad: those who have or are at increased risk for a chronic physical, developmental, behavioral, or emotional condition and who also require health and related services of a type or amount beyond that required by children generally” (McPherson et al. 1998, p. 138).

1.4.2 The Epidemiology of Children with Special Health Care Needs and the National Survey Varying with the definition in favor at any given moment have been the enumerations of the population of children with special health care needs. The literature suggests that from less than 2% (Palfrey et al. 1994) to more than 30% (Newacheck and Taylor 1992) of the population can be so identified depending on the definition used. States, the federal government and advocacy groups found it challenging to champion the needs of the population without an agreed upon definition or reliable data on the nature and scope of the population. The lack of an overall comprehensive picture of the population of children with or at risk of handicapping conditions may have contributed to the continued categorical approach of advocates and agencies alike. In 1998, the federal Maternal and Child Health Bureau rectified this situation in a dramatic way by launching the National Survey of Children with Special Health Care Needs (van Dyck et al. 2002). The random

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digit dial household survey uses a screener to determine if there are children in the home that meet the inclusion criteria and samples 750–850 families per state: the screener asks parents to report if they have one or more children in the home with a health problem expected to last at least 12 months and requiring prescription medications, more services than most children, special therapies, and limiting the child’s ability to do most things children can do. The survey was first completed in 2001, again in 2005–2006 and again in 2009–2010 and has generated a wealth of information on the prevalence of chronic conditions among the nation’s children and on how families negotiate and utilize complex service systems. Interview questions cover such areas as the extent to which children with special health care needs have medical homes, adequate health insurance, and access to needed services. Other topics include functional difficulties, care coordination, satisfaction with care, and transition services. Prevalence estimates are generated for the nation as a whole and for each state; the 2005–2006 survey indicated that 13.9% of children in the United States have a special health care need and that 21.8% of households with children have at least one child with a special health care need (U.S. Department of Health and Human Services 2008). Having a regular and robust source of data on the population of children with special health care needs has been extremely helpful in developing state and national plans, coordinating across agencies and sectors, and advocating for needed services in health and education reform policy debates.

1.4.3 State’s Rights and the Rights of Individuals Since the founding of our union, issues of state’s rights have arisen in every national social policy discussion. The U.S. Constitution does not give the executive or legislative branches of government the power to regulate public health; that authority is left principally to the states (Teitelbaum and Wilensky 2007). Given this, what is the appropriate role of the federal government in ensur-

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ing basic rights, services or standards given the preeminence of states in most of these matters? The federal government can and does provide incentives for states to carry out policy it deems important. However, states retain the ability to pick and choose what and how they implement in the health, education and social services policy arenas. As such, children with special health care needs and their families will find it relatively easier or more difficult to secure the services they need to function optimally simply depending on the state they reside in. The 1981 report of the Select Panel for the Promotion of Child Health (U.S. Department of Health and Human Services 1981) noted striking inequities in the services provided to handicapped children across states. Covered services tended to follow historical patterns with every state covering orthopedic or plastic surgery but few covering otitis media treatment despite the benefit to children’s educational achievement and development (U.S. Department of Health and Human Services 1981). In addition, the report noted inequities in eligibility for the various programs depended on by children with special health care needs. Even with expansions in Medicaid eligibility and the rules governing EPSDT, some states linked Title V eligibility to Medicaid while others included a broader array of children. Even with generous eligibility and extensive covered services, the availability of providers varies enormously as do attitudes around interagency cooperation or the sharing of information. Despite repeated calls for a central federal authority for services for children with special health care needs, such a policy has yet to be enacted in the United States, likely due to state’s rights concerns. These same issues have arisen in response to the Affordable Care Act of 2010. Several states have sued on constitutional grounds arguing that the law oversteps federal authority in matters constitutionally left to the states. In a similar vein, individual rights activists have argued against the Affordable Care Act provisions mandating individual coverage. Relatedly, these policy debates raise the issue of whether Americans view health care as a right and if so, how far they will go to enable everyone to exercise that right—mandating health care

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coverage and requiring states to regulate insurance markets and cover community-based preventive services are necessary to ensure benefits to all. Mandating coverage as has already been stated infringes on the rights of individuals, an equally powerful policy thread in American history. Where children with special health care needs are considered, the collision between right to life arguments (carried to their logical conclusion with the Baby Doe Amendments of 1984) and the right to health care for those kept alive becomes glaringly apparent. This is an interesting contradiction between what some may see as the rights of individuals to choose life and the same rights of those individuals to reject publicly organized and financed health care. We have yet to resolve this seeming contradiction through there are those who argue that too much is given to vulnerable populations creating dependency that is not productive for the individuals involved nor society as a whole.

1.4.4 Categorical (Vertical) Programs Versus Comprehensive (Horizontal) Programs It is abundantly evident that the way the U.S. Congress is organized, the way lawmakers are elected and the way the U.S. Constitution gives responsibilities to states promotes a tendency to favor narrowly crafted legislation around a single issue or constituency group over comprehensive approaches to addressing broad societal issues. In this review of policy developed for children with special health care needs which is by no means exhaustive, we see policies in health care financing, public education, early intervention, disability rights, case management, home-based care, income maintenance, and specialized health care delivery. With few exceptions these policies are categorical in nature, addressing a single issue or single focus with specific eligibility criteria and benefits and no required coordination with other related programs. This pattern of policy development creates opportunities for children and youth with special health care needs to be sure, but it also creates a virtual nightmare for parents who


must negotiate an overly complex labyrinth of programs to locate and access needed services and supports, only to discover at the end of the search that there is no program to provide what is actually needed by the family. A personal anecdote may be illustrative: as the director of a state’s program for children with special health care needs, I was presented with a case of a child with Prader-Willi syndrome who lived with his family at the intersection of two state highways in a small rural town. The parents had been worn ragged in their efforts to keep their son from running into the road and being hit by a car or tractor-trailer. The family had adequate health insurance; they had a solid team of primary and specialty care providers; they had an IEP that included special transportation to and from school; they had an excellent case manager; they even had access to respite care. What they needed was a fence. Drawing upon the statutory provisions of Title V and our own state law which required me to provide services and supports necessary to assure the optimal growth and development of children with handicapping conditions, I persuaded our budget officer to approve the purchase of fencing material. (The excellent case manager can already negotiate free labor from a local fencing contractor.) While this story has a happy ending, it took too many years, too many phone calls, and too many frantic moments for this family to secure the relief they needed. The passage of the Social Security Act in 1935 created a focus within each state on the population of what were then called “crippled children” and for 30 years, state Crippled Children’s Services programs were the sole source of efforts to organize, deliver, and fund services for children with crippling conditions. Over time, the conditions recognized by these programs evolved with advances in science and greater sophistication in diagnosis, treatment, and rehabilitation but in the context of tension between the federal and state governments, states were given a fair amount of latitude to determine eligibility for services and the nature of services to be provided. In the 1960s and 1970s, a series of policy actions were taken that provided opportunities but also complicated the landscape for children with special health

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care needs. Medicaid provided a source of financing, but to a limited population for a narrow set of medical services; education policies mandated a free and appropriate education in the least restrictive environment for all handicapped children and also mandated provision of related services that would enable children to benefit from the individualized instruction required, most of which were health services. EPSDT amendments to Medicaid legislation directed that eligible children be found, screened and treated for any diagnosis eligible in the state plan. These policies, while clearly of major importance for children with special health care needs were silent on the need to coordinate among them, named no central overriding authority, strained state budgets and created a complex set of categorical programs that were difficult for families to understand and navigate. State Title V programs, as the historic champion for children with special health care needs, were further challenged to find ways to coordinate this complex array of services for children. Where Title V Crippled Children’s Services programs were originally intended to promote, improve and deliver services, these programs found themselves increasingly serving as mediators between agencies with new responsibilities (often categorical), as translators between programs and providers, as referral agents and case managers for families, and as the program of last resort, plugging holes in the evolving, fragile system of care. The lack of a single authority with responsibility for creating a comprehensive horizontal program approach to meeting the needs of children in a holistic manner, has contributed to the fragmentation that exists across the array of vertical, single-focused programs, each of which results in a separate bureaucracy, constituency and funding stream with specific eligibility, and program service components. To illustrate this problem again from the family’s perspective, a child could be receiving health insurance coverage through the state’s Medicaid program and case management and related services from the state Title V program, as intended by statutory language in both laws. The child may have received diagnostic services from the Title V program and should have some type of in-

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dividualized care plan developed with the parents and the case manager. If the child is of preschool age, there is also an IFSP intended to cover all the health and related services, education, and social services needed by the developing child and family. This IFSP is prepared with full involvement of the family and all involved agencies and ideally includes the primary care provider, though the participation of the pediatrician is challenging due to the lack of reimbursement for the medical home part of the care provided. If the child is receiving Supplemental Security Income, which may be providing the link to Medicaid eligibility, the child also has an ISP as required by federal law, also involving Title V. Once the child reaches school age, the IFSP becomes an IEP which is still intended to cover education and related services but does not likely cover social service needs or family needs. In this all too common scenario, families are forced to interact with multiple agencies, comply with multiple administrative requirements and may still not receive all the services and supports necessary. As a case in point, despite repeated calls, families still report a lack of access to needed mental health services, dental care, transportation, respite care, and home modifications. Many children with special health care needs live in families with private insurance and incomes that render them ineligible for many of the public programs described here. These families still face similar challenges, however, because private insurance typically does not cover all services necessary to meet the child’s needs. The recent national survey of children with special health care needs revealed that privately insured children were more likely to be underinsured than those with public coverage (Kogan et al. 2010). According to 12.7% of families surveyed, private insurance did not offer benefits or cover services needed by their children and 9.3% reported that their insurance carrier did not allow the child to see needed providers. An earlier investigation noted that behavioral health, durable medical equipment, and ancillary therapies (physical, occupational, and speech) were the least available through private insurance coverage either because they were not covered services

D. Petersen

or because other exclusions would prevent children from receiving services even if they were covered under the policy (i.e., service needed to attain not restore function, or the condition was developmental and not due to an illness or injury; Fox et al. 2002). The Patient Protection and Affordable Care Act of 2010 includes some important provisions that could ameliorate many of these challenges and create not only more functional systems of care but more efficient ones. Decades of health reform debates have either ignored the issues of children with special health care needs or assumed that provisions for children in general would cover this population as well. Regardless of whether the focus is all children or those with special health care needs, health reform policy proposals have struggled to meet the demands of providing affordable health care coverage to the entire population while also ensuring the depth of benefits necessary to provide comprehensive services to improve health. Even if these two policy imperatives could be met, the equally compelling need to assure that services are organized in a functional system that works for children and families is rarely part of the policy compromise (Halfon and Hochstein 1997). That families need health insurance for their children to avoid catastrophic medical bills and possible bankruptcy is obvious and the necessary part of the quality health care access issue, but it is not sufficient. Health and related services need to be organized and financed in ways that reduce burdens on families and on providers seeking to provide optimal care for the best outcomes. Debates around national and even state-level health reform strategies have not always recognized that the complex needs of vulnerable children require particular attention and that such attention can reveal important facts about the system as a whole. The myriad policy directives that have evolved over the past century speak to the challenges of meeting the humanitarian desire to provide assistance to children with special health care needs and their families within the constraints of various ideologies. Recent discussions preceding and subsequent to passage of the Affordable Care Act have centered on many of these issues: state’s


rights, individual rights to autonomy and medical practice, independence against protection from financial loss, promotion of health, and quality of life for individuals and communities. The role of public sector programs like those created through policy actions to serve specific needs of vulnerable children are also being questioned; within the promise of comprehensive health care extended to everyone, will there still be a need for programs that provide service enhancements, enabling services, family support or care coordination? Many advocates for children with special health care needs still believe such efforts will be necessary to realize the benefits of health care coverage.

1.5 Future Avenues for Policy Development for Children with Special Health Care Needs Thirty years ago, the Select Panel on Better Health for our Children called for high-level system leadership to assure comprehensive collaboration between families and community teams of professionals, providing needed services, coordinated and fully communicated across and among system components (U.S. Department of Health and Human Services 1981). The Select Panel also observed that this would be difficult to achieve if not guided by a single overriding authority. As has been discussed here, they noted the emergence of myriad programs from within the health, education and child welfare sectors with conflicting or overlapping purposes, persistent gaps in coverage (dental care, mental health, nutritional support, transportation costs, loss of work for parents, etc.), disconnected to other elements of the system, and lacking leadership. Dr. Henry Ireys’ writing in the journal Pediatrics after the passage of OBRA 1989 noted that children with special health care needs programs have the potential to create true systems of care but “only if they develop effective working relationships between their agencies and a broad range of groups including community-based pediatricians, parent led advocacy groups, tertiary

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care centers and related public programs” (Ireys and Nelson 1992, p. 321). He further goes on to suggest that, as was the case in 1935, state Title V programs today are “the only available agent for organizing a coherent system of care for children with special health care needs and their families” (Ireys and Nelson 1992, p. 326). Even with the passage of the Affordable Care Act of 2010 (and amid hopes that it will survive the various state, interest group and partisan challenges to it and be implemented as designed), the words of Dr. Debra Klein Walker penned over 15 years ago are still true: children with special health care needs and their families continue to face “conflicting and inadequate financing structures, inconsistent legal mandates in education and health, bureaucratic and organizational barriers at all levels of government, inadequacies in personnel recruitment and training, and minimal public commitment” (Walker 1994, pp. 752–753). The need for continued policy action on behalf of children and youth with special health care needs and their families remains critically important, particularly in times of economic distress, and social change on a grand scale such as we are witnessing at the beginning of the second decade of the twenty-first century. We can look for guidance back to the 1987 Surgeon General’s report on Children with Special Health Care Needs in which then Surgeon General C. Everett Koop stated: “I am asking families to actively participate in caring for their children and to help shape health care policy and programs; states to implement systems of care which support the strengths and needs of families, to assure the input of families at all levels of care, and to assure the adequate preparation of professionals for new collaborative roles; private health care providers to develop systems which meet the needs of families and which encourage their independence, by forging strong linkages between primary, secondary and tertiary levels of care, and; the health care financing sector to assure that all children with special health care needs have access to quality health care, and that support services are adequately funded to enable families to care for their children in their own homes and communities” (Koop 1987).

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Though now nearly 25 years old, this call for a comprehensive, well-functioning and efficient system has not yet been realized. Perhaps it is because the system still lacks a single overriding federal authority with the ability to arrange services and supports based on the expressed needs of the population. Given persistent concerns over state’s rights, absent a central federal authority, related policies should at least point to one another and states should be required through some central organizing authority to create comprehensive, coordinated, efficient, and accountable systems of care. Pediatrician, social reformer, and parent advocates have long argued that if systems were designed for children and youth with special health care needs first, they would work for all children. Instead, decades of attempts to assure coverage for all children continue to fall short for those children who need more than routine care. Children and youth come in and out of systems for those with special health care needs, developmental delays, learning disabilities and, increasingly, neurodevelopmental disorders such as autism, and autism spectrum disorders. Whatever systems emerge, they must be nimble enough to respond to these and other challenges, both those related to the population being served and those related to the providers who serve them. Policy makers and advocates still have much work to do to realize the vision of those early visionary leaders while addressing the challenges that we are facing today.

References Administration of Children and Families, U.S. Department of Health and Human Services Office of Public Affairs Fact Sheet, Head Start Bureau. (2010). http:// www.acf.hhs.gov/programs/ohs/index.html. Accessed 28 Dec 2010. Alexander, G. R., Petersen, D. J., & Allen, M. E. (1999). Life on the edge: preterm births at the limit of viability—committed to their survival, are we equally committed to their prevention and long-term care? The Medicolegal Ob/Gyn Newsletter, 8(4), 1, 18–21 (West Virginia: American Society of Forensic Obstetricians and Gynecologists). Alexander, G. R., Petersen, D. J., Pass, M. A., Slay, M., Chadwick, C., & Shumpert, N. (2002). Maternal and child health/public health milestones, history and

D. Petersen philosophy and the MCH timeline. Birmingham: The MCH Leadership Skills Training Institute, Department of Maternal and Child Health, University of Alabama at Birmingham. www.mchb.hrsa.gov/timeline/. Accessed 13 Dec 2010. American Academy of Pediatrics, Ad Hoc Task Force on Definition of the Medical Home. (1992). The medical home. Pediatrics, 90(5), 774. American Academy of Pediatrics Policy Statement, Medical Home Initiatives for Children with special health care Needs Project Advisory Committee. (2002). The medical home. Pediatrics, 110(1), 184–186. American College of Medical Genetics commissioned by the U.S. Department of Health and Human Services, Health Resources and Services Administration. (2006). Newborn screening: Towards a uniform screening panel and system. Genetics Medical, 8(5 Suppl), S12–S252. Association of Maternal and Child Health Programs Fact Sheet. (2010). Health care reform. What’s in it for children with special health care needs. www.amchp. org. Accessed 14 Dec 2010. Blackman, J. A. (1994). Screening and early identification. In H. M. Wallace, R. P. Nelson, & P. J. Sweeney (Eds), Maternal and child health practices (4th ed.). Oakland: Third Party Publishing. Brosco, J. P. (2010). Locating the future in the past: A history of maternal and child health programs in the US. Washington: Maternal and Child Health Bureau. Farel, A. M. (1997). Children with special health care needs. In J. Kotch (Ed.), Maternal and child health: Programs, problems and policy in public health. Gaithersburg: Aspen. Fox, H. B., McManus, M. A., & Reichmann, M. B. (2002). The strengths and weaknesses of private health insurance coverage for children with special health care needs. Washington: MCH policy research center. www.mchpolicy.org. Accessed 23 Dec 2010. Halfon, N., & Hochstein, M. (1997). Developing a system of care for all: what the needs of vulnerable children tell us. In R. K. Stein (Ed.), Health care for children: What’s right, what’s wrong, what’s next. New York: United Hospital Fund of New York. Hitchcock, L. I., & Mulvihill, B. (2010). The early years of Title V: Extending and improving care for children with special health care needs 1935–1941. Maternal and Child Health Journal, 15, 139–147. Hutchins, V. L. (1997). A history of child health and pediatrics in the United States. In R. K. Stein (Ed.), Health care for children: What’s right, what’s wrong, what’s next. New York: United Hospital Fund of New York. Ireys, H. T. (1988). Description of the population (of children with special health care needs). In H. M. Wallace, G. M. Ryan, & A. C. Oglesby (Eds.), Maternal and child health practices (3rd ed.). Oakland: Third Party Publishing. Ireys, H. T., & Nelson, R. P. (1992). New federal policy for children with special health care needs: Implications for pediatricians. Pediatrics, 90, 321–327.

1 Policy: Its History, Intentions, and Consequences for Children with Special Health Care Needs Kogan, M. D., Newacheck, P. W., Blumberg, S. J., Ghandour, R. M., Singh, G. K., Strickland, B. B., & van Dyck, P. C. (2010). Underinsurance among children in the United States. New England Journal of Medicine, 363(9), 841–851. Koop, C. E. (1987). Surgeon general’s report on children with special health care needs. U.S. Department of Health and Human Services (HRS/D/MC 87–2). Washington: U.S. Government Printing Office. Lesser, A. J. (1985). The origin and development of maternal and child health programs in the United States. American Journal of Public Health, 75(6), 590–598. Magee, E. M., & Pratt, M. W. (1985). 1935–1985: 50 years of US federal support to promote the health of mothers, children and handicapped children in America. Vienna: Information Sciences Research Institute. Margolis, L. H., Cole, G. P., & Kotch, J. B. (1997). Historical foundations of maternal and child health. In J. Kotch (Ed.), Maternal and child health: Programs, problems and policy in public health. Gaithersburg: Aspen. Markus, A. S., Rosenbaum, S., & Cyprien, S. (2004). SCHIP-enrolled children with special health care needs: an assessment of coordination efforts between state SCHIP and Title V programs. Washington: Kaiser Commission on Medicaid and the Uninsured, Kaiser Family Foundation. McPherson, M., Arango, P., Fox, H., Lauver, C., McManus, M., Newacheck, P., Perrin, J., Shonkoff, J., & Strickland, B. (1998). A new definition of children with special health care needs. Pediatrics, 102(1), 137–140. Merriam-Webster. (2010). www.Merriam-Webster.com. Accessed 13 Dec 2010. Miller, C. A. (1988). Development of MCH service and policy in the United States. In H. M. Wallace, G. M. Ryan, & A. C. Oglesby (Eds.), Maternal and child health practices (3rd ed.). Oakland: Third Party Publishing. Moss, K. (1987). The “Baby Doe” legislation: Its rise and fall. Policy Studies Journal, 15(4), 629–651. Nelson, R. P. (1994). The legislative base of programs for children with special health care needs. In H. M. Wallace, R. P. Nelson, & P. J. Sweeney (Eds.), Maternal and child health practices (4th ed.). Oakland: Third Party Publishing. Newacheck, P., & Taylor, W. (1992). Prevalence and impact of childhood chronic conditions. American Journal of Public Health, 82, 364–371. Oglesby, A. C. (1988). Systems for care for children with special health care needs. In H. M. Wallace, G. M. Ryan, & A. C. Oglesby (Eds.), Maternal and child health practices (3rd ed.). Oakland: Third Party Publishing. Okinow, N. A. (1994). Transition of youth with special health care needs. In H. M. Wallace, R. P. Nelson, & P. J. Sweeney (Eds.), Maternal and child health practices (4th ed.). Oakland: Third Party Publishing. Palfrey J. S., Haynie, M., Porter, S., Fenton, T., Cooperman-Vincent, P., Shaw, D., Johnson, B., Bierle, T., &

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Walker, D. K. (1994). Prevalence of medical technology assistance among children in Massachusetts in 1987 and 1990. Public Health Reports, 109(2), 226–233. Perrin, E. C., Newacheck, P., Pless, I. B., Drotar, D., Gortmaker, S. L., Leventhal, J., Perrin, J. M., Stein, R. E., Walker, D. K., & Weitzman, M. (1993). Issues involved in the definition and classification of chronic health conditions. Pediatrics, 91(4), 787–793. Rosenbaum, S. (2008). CMS medicaid regulations: Implications for children with special health care needs. Washington: George Washington University, School of Public Health and Health Care Services. Saunders, S. E. (1988). Medicaid and maternal and child health, and programs for children with special health care needs. In H. M. Wallace, G. M. Ryan, & A. C. Oglesby (Eds.), Maternal and child health practices (3rd ed.). Oakland: Third Party Publishing. Schmidt, W. M., & Wallace, H. M. (1994). The development of health services for mothers and children in the United States. In H. M. Wallace, R. P. Nelson, & P. J. Sweeney (Eds.), Maternal and child health practices (4th ed.). Oakland: Third Party Publishing. Sheps, M. P., & Alexander, G. R. (2001). Landmark federal MCH legislation. Deltaomega classics series. www.deltaomega.com. Accessed 21 Jan 2011. Sia, C. J., & Peter, M. I. (1988). The medical home comes of age. Hawaii Medical Journal, 47(9), 409–410. Sia, C. Tonniges, T. F., Osterhus, E., & Taba, S. (2004). History of the medical home concept. Pediatrics, 113(5 Suppl), 1473–1478. Stein, R., & Jessop, D. (1982). A non-categorical approach to chronic childhood illness. Public Health Reports, 97, 354–362. Stubbs, P. (1994). The head start program. In H. M. Wallace, R. P. Nelson, & P. J. Sweeney (Eds.), Maternal and child health practices (4th ed.). Oakland: Third Party Publishing. Takanishi, R. (1978). Childhood as a social issue: historical roots of contemporary child advocacy movements. Journal of Social Issues, 34, 8–28. Teitelbaum, J. B., & Wilensky, S. E. (2007). Essentials of health policy and law. Sudbury: Jones and Bartlett. U.S. Congress. (1912). The Children’s Bureau Act PL 92-116. U.S. Congress. (1921). The Maternal and Infancy (Sheppard-Towner) Act PL 67-97. U.S. Congress. (1935). The Social Security Act PL 74-271, Title V Grants to States for Maternal and Child Welfare, Part 1—Maternal and Child Health Services, Part 2—Crippled Children’s Services. U.S. Congress. (1981). Omnibus Budget Reconciliation Act of 1981 PL 97-35, Maternal and Child Health Services Block Grant. U.S. Congress. (1989). Omnibus Budget Reconciliation Act of 1989 PL 101-239, Maternal and Child Health Block Grant Program. U.S. Congress. (2010). Patient Protection and Affordable Health Care Act, Public Law 111-148. http://thomas. loc.gov/cgi-.

22 U.S. Department of Health and Human Services. (1990). Healthy people 2000: National health promotion and disease prevention objectives. DHHS (PHS) Publication (No. 91-50212). U.S. Department of Health and Human Services. (2000). Healthy people 2010: Understanding and improving health (2nd ed.). Washington: U.S. Government Printing Office. U.S. Department of Health and Human Services, Health Resources and Services Administration, Maternal and Child Health Bureau. (2008). The national survey of children with special health care needs chartbook 2005–2006. Rockville: U.S. Department of Health and Human Services. U.S. Department of Health and Human Services, Public Health Service. (1979). Healthy people: The surgeon general’s report on health promotion and disease prevention. Washington: U.S. Government Printing Office. U.S. Department of Health and Human Services, Public Health Service. (1980). Promoting health/preventing disease: Objectives for the nation. Washington: U.S. Government Printing Office.

D. Petersen U.S. Department of Health and Human Services, The Select Panel for the Promotion of Child Health. (1981). Better health for our children: A national strategy. Washington: DHHS (PHS) Publication (No. 79-55071). U.S. Statutes 62 Congress 2 Sess. (1911–1912) Pt 1 (Chap. 73, pp. 79–80). van Dyck, P. C., McPherson, M., Strickland, B. B., Nesseler, K., Blumberg, S. J., Cynamon, M. L., & Newacheck, P. W. (2002). The national survey of children with special health care needs. Ambulatory Pediatrics, 2, 29–37. Wald, L. (1971). The house on Henry Street. In R. H. J. Bremner (Ed.), Children and youth in America, a documentary history (Vol. II). Cambridge: Harvard University Press. Walker, D. K. (1994). Children with special health care needs in schools. In H. M. Wallace, R. P. Nelson, & P. J. Sweeney (Eds.), Maternal and child health practices (4th ed.). Oakland: Third Party Publishing. Witte, E. E. (1963). The development of the Social Security Act. Madison: University of Wisconsin Press.

2

Severe Communication Disorders

Carol A. Page and Patricia D. Quattlebaum

Abstract

Communicating confidently is the cornerstone of a positive self-image, and we recognize that severe communication disorder is an example of a phrase that will be interpreted differently in different contexts. Our intent in this chapter is not to diminish the impact of less debilitating communication disorders, but our focus will be on the small but significant minority of children who have such severe difficulties that they either cannot communicate via speech or are at risk to have significant limitations in this area. This area of practice is known as augmentative and alternative communication (AAC). For children with severe communication difficulties, AAC is a powerful outlet for celebrating the fundamental human connection that all children need to thrive. Healthcare providers are in a unique position to help identify and support children with severe communication disorders, and this begins with helping caregivers access AAC services for these children. Research has consistently shown that the use of AAC strategies does not interfere with the development of speech. Further, when the child’s caregivers use AAC strategies to support language development, the outcomes improve. Abbreviations

AAC Augmentative and Alternative Communication AJSLP American Journal of Speech-Language Pathology ASHA American Speech-Language Hearing Association IDEA Individuals with Disabilities Education Act JSLHR Journal of Speech, Language, and Hearing Research C. A. Page () Center for Disability Resources, Department of Pediatrics, University of South Carolina School of Medicine, 8301 Farrow Road, Columbia, SC 29203, USA e-mail: [email protected] P. D. Quattlebaum Center for Disability Resources, Pediatric School of Psychology, 3612 Landmark Drive, Suite A, Columbia, SC 29204, USA e-mail: [email protected] D. Hollar (ed.), Handbook of Children with Special Health Care Needs, DOI 10.1007/978-1-4614-2335-5_2, © Springer Science+Business Media New York 2012

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C. A. Page and P. D. Quattlebaum

PL Public Law SLP Speech-Language Pathologist

2.1 Introduction The traditional articulation therapy may be the first image that comes to mind when the field of speech-language pathology is mentioned, and this role is important. While misarticulation of “r” or “s” sounds might not seem to represent a serious problem, this can negatively affect a child’s self-esteem and thereby limit his potential in life. Communicating confidently is a cornerstone of a positive self-image, and we recognize that severe communication disorder is an example of a phrase that will be interpreted differently in different contexts. In the field of speech-language pathology, severity ratings are based upon clinical judgment rather than an absolute numeric standard or severity rating scale such as those used in ranking the level of intellectual disability. Our intent in this chapter is not to diminish the impact of less debilitating communication disorders, but our focus will be on the small but significant minority of children who have such severe difficulties that they either cannot communicate via speech or are at risk to have significant limitations in this area. This area of practice is known as augmentative and alternative communication (AAC). Severe communication disorders may result from acquired injuries and illness or from developmental conditions. Whether acquired or congenital, the language, phonology/articulation, and voice disorders can each or in combination limit communication to such a degree that AAC is needed. For example, a child might have such severe dysarthria (oral muscle weakness) resulting from a head injury or treatment for cancer that both articulation and voice are profoundly impaired. AAC may be needed for this child throughout his or her life span. In contrast, the child who has apraxia (oral motor planning problems) associated with autism, may be unintelligible and require AAC for several years. Both of these children will have traditional articulation therapy as a component of their intervention plan, and they must also be supported by strategies that address the broader picture of communication.

Except in cases involving a short-term medical intervention (as in a tracheostomy tube), the exact course of speech development and AAC intervention will be unique to the child. Some children will use AAC for a relatively short time, and for others AAC will be the primary mode of communication into adulthood. While the course is uncertain, the consequences of inadequate communication skill intervention are more predictable. Children who are not supported in communication development may misbehave, become depressed and/or socially isolated (Light et al. 2003). The foundation of AAC rests upon the conviction that all individuals can and do communicate (National Joint Commission for the Communication Needs of Persons with Severe Disabilities 1992). Further, successful communication interventions for children are the responsibility of every communication partner, not just the speech-language pathologist (SLP). The reader of this chapter will gain an understanding of: • The definition and scope of AAC • The population of children who benefits from AAC • The difference between AAC and other learning, symbol, and picture tasks • The components of successful AAC assessments • The components of successful AAC interventions

2.1.1 What is AAC? The American Speech-Language-Hearing Association (ASHA) has defined AAC as follows: “AAC involves attempts to study and when necessary compensate for, temporarily or permanently, the impairments, activity limitations, and participation restrictions of individuals with severe disorders of speech-language production and/or comprehension. These may include spoken and written modes of communication” (ASHA 2005). Whether through speech, behaviors, gestures, writing, etc., the human communication is a uniquely complex and dynamic activity. The crucial link is a shared symbol system that allows both partners to construct messages and jointly interpret meaning (Fig. 2.1).

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2 Severe Communication Disorders Sender:

Receiver: Shared Meaning

Expressive

Receptive

Fig. 2.1 Essential elements for human communication. This figure illustrates the three basic components of human communication

Typical or “normal” communicators have a large repertoire of communication options (e.g., facial expressions, body posture, gestures, eye gaze, vocalizations, speech, writing, computers, telephones, etc). Individuals who have severe communication difficulties will also require combinations of communication modalities to promote functional and effective communication in all environments. Therefore, best practice in AAC includes developing a multimodal communication system. A child could be taught to use signs, picture symbols and a voice output device to communicate in various contexts. AAC devices are more available now than ever before. Mainstream technology has streamlined the process of acquiring touch screen tablets and handheld devices with AAC software or apps. This is an exciting development, but these are not for everyone with a severe communication disorder (Gosnell et al. 2011). Sometimes family members question the need for AAC because they feel that they know what their loved ones need even with minimal communicative interaction. For example, children who have supportive caregivers may be able to communicate adequately using basic strategies such as reaching and utilizing facial expressions because family members often report that they know what their loved ones need even with minimal communicative interaction. Individuals outside the family typically have much more trouble interpreting idiosyncratic signals. When unfamiliar communication partners encounter a child who cannot communicate using traditional symbol systems, they may not understand the message. AAC is the bridge that enables children with severe communication difficulties to learn higher-level language skills and to interact with individuals outside the family. AAC should be viewed as an essential component of intervention programs that provide a foundation to support the learning, communica-

tion, social and emotional development of children, and strengthen their relationships with family members and others in the community.

2.1.2 Language Development Spoken language is the natural course of development for most children. In those who do not develop speech, a brain difference or disorder usually exists. Paul (2007, p. 11) summarized the research on brain structure and function related to developmental language impairments: “It is important to realize that no one pattern of brain architecture has been consistently shown in all individuals with language impairment. Instead, these structural differences appear to act as risk factors for language difficulty.” Conversely, a child with an acquired speech and language impairment will have the area of damage identified by various imaging tests. Communication intervention takes a somewhat different form when children are not speaking, but the typical course of spoken language development provides the starting point as AAC planning begins. There are a number of language development models. Some focus more on the child’s innate language capability. The fact that children around the world follow a similar sequence of cooing, to babbling to speech supports these theories. Other theories focus more on the need for interaction with communication partners as the springboard for language development. An appreciation of the contributions of each of these models has gained wide acceptance (Nelson 2010). The following example (Table 2.1) shows the parallels between spoken language development and language development that are supported with AAC. This comparison illustrates that just as language development evolves rapidly when typical children are young, the AAC interventions evolve and change as children’s needs change.

2.1.3 The Impact of AAC on Speech Production The use of AAC is not new to the twentyfirst century. Helen Keller was one of the first and most

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Table 2.1 Spoken language development versus supporting language development using AAC Language Learning Attribute Timing

Spoken Language (Typical Development) AAC Correlate From birth, vocalizations are interpreted as communication

From birth, vocalizations are interpreted as communication. Whenever the child is at risk for significant communication difficulties, AAC is considered Earliest interactions Presymbolic communication is valued Presymbolic communication is valued and and supported supported Example: Parents respond to babbling as Example: Looking toward an object by if the child is saying words. This focused chance is interpreted as communication. This focused reinforcement teaches the reinforcement of word-like utterances child how to use eye gaze as communicagives rise to true words tion of a word Utterance length Language evolves from single words to Symbols are sequenced to produce phrases phrases and then sentences and sentences. Adults model the use of AAC strategies Scope of communication Children cry, point, vocalize, use words, Children are encouraged to use a variety of modalities so that they can communicate in possibilities etc. to communicate. As they get older, many contexts. (Speech, gestures, objects, they phone, write, type, text, and email writing, etc.) Children learn about emotions as their parSocial-emotional Children learn about emotions as their ents teach them these words (happy, bored, maturation parents teach them these words (happy, etc.). They develop emotional regulation bored, etc.). They develop emotional regulation and empathy through observa- and empathy through observations of others tions of others and through conversations and through conversations. Adults continue to model AAC strategies As children learn to use AAC, they are Behavioral presentation As children learn to speak, they are expected to use symbols/signals rather than expected to use words rather than whinwhining, tantrums, etc. to communicate ing, tantrums, etc. to communicate Specific rate-enhancing strategies are Rate of message exchange Younger children process and produce messages more slowly and develop skill taught and these may be different for differin more rapid communication exchanges ent situations. Residual speech is encouraged because this is always more efficient over time than AAC AAC progress can be slower especially Rate of progress In young children, speech and language when children have cognitive impairments. skills advance rapidly in the preschool years and more subtle refinements evolve Systems are modeled, taught, and refined into adulthood to support communication naturally even into adulthood with new partners and in new contexts

famous AAC users. She expressed herself by signing letters of the alphabet against the palm of her communication partner’s hand to begin her entrance as an interacting and contributing member of society. The success story of Helen Keller is often perceived as an isolated incident. In reality, the world of AAC has exploded both theoretically and technologically since then with most of the growth occurring over the past few decades. Along with most things that develop quickly, many misconceptions exist. A common misconception among SLPs, parents, and even some physicians is that giving a child an AAC system

will lead to a disruption or impairment in natural speech production. The research studies have looked at the impact of AAC upon children of different ages and diagnoses. A meta-analysis of these studies by Millar et al. (2006) revealed that AAC does not impede natural speech production. A growing body of research is continuing to provide compelling evidence to share with families when such concerns arise. AAC looks different, but it does not decrease the likelihood of speech production (Table 2.2). Another misconception is that AAC is only for children who have failed to make progress in

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2 Severe Communication Disorders Table 2.2 The impact of AAC interventions on language acquisition Study The impact of augmentative and alternative communication on the speech production of individuals with developmental disabilities: A research review (Millar et al. 2006; JSLHR) Effects of augmentative and alternative communication intervention on speech production in children with autism: A systematic review (Schlosser and Wendt 2008; AJSLP)

Participants Meta-analysis of six studies involving 27 individuals, most of whom had intellectual disabilities and/or autism Nine single-subject designs and two group studies with 98 total participants

traditional speech-language therapy. Parents and clinicians do not need to choose between teaching speech production and teaching AAC strategies. If deemed appropriate, traditional speech therapy may be pursued while a child uses an AAC system. In fact, AAC can stimulate verbal expression for many children. AAC is best viewed as a bridge to optimal communication and thereby an avenue for promoting cognitive, emotional, and social development.

2.2 Early Intervention A child’s preschool years provide an unparalleled opportunity to nurture all aspects of development during this critical period of rapid learning. The results of a study by Binger and Light (2006) revealed that 12% of 8,742 preschoolers who were receiving special education required AAC. Children who had developmental delays, autism spectrum disorders, speech-language impairments, and multiple disabilities were the most likely to need AAC. Clearly, significant numbers of preschoolers around the United States will need this type of communication intervention. Many parents wonder about the old advice that toddlers will grow out of speech and language delays. In fact, there are anecdotal reports of individuals who did not begin talking until they were three years old or older, and then matured into adults with typical speech. Children who seem to have specific language impairment and then respond quickly to intervention are the very ones who lend credibility to the notion that speech

Outcome None of the subjects had decreased speech production, 11% showed no change and 89% showed increased speech production AAC interventions did not impede speech production. Subjects made modest gains in speech

will eventually develop. Yet even when speech develops, many late talkers will continue to have subtle language problems (Rescorla 2009). The biggest concern is that it is not possible to predict with absolute certainty which young children will talk and which will not. This is true both for children who seem typical except for the absence of speech and those who have other developmental issues such as autism. A brief period of watchful waiting would be appropriate when the child is developing normally in all other areas. When there are other developmental concerns or the communication delay appears to be severe, the risks of limiting acceptable communication options to only natural speech are significant and could impact the child’s development in many areas. For example, children who cannot communicate in other ways may tantrum, become withdrawn, fail to establish friendships, and become academic underachievers when they enter school. Children who speak increasingly use words as they mature and children who need AAC may use vocalizations, gestures, and symbols for regulating behavior and to support socialemotional maturation (Table 2.1). The urgency of optimizing the child’s learning potential and social/emotional development requires exploration of AAC options whenever (a) communication delays are evident or (b) the child’s history suggests that he may be at risk for severe speechlanguage impairment. Caregivers need to understand that the choice is NOT between speech and AAC. Rather the choice is whether to work only on speech without knowing how quickly (or even if) this will be a viable expressive option for the child who is at risk of severe communication

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difficulties or to support language development using every means possible. Table 2.1 outlines the difference between spoken language development and language development in children who use AAC. The primary difference is that in children at risk for severe communication difficulties, there is a greater therapeutic focus on reinforcing all vocalizations, watching for subtle signals such as small gestures, modeling the use of AAC systems, and providing many opportunities to practice multiple communication modalities such as signs and picture symbols. The child will progress from single symbols to combinations and will move from a less developed communication system (e.g., crying) to a more symbolic level. The rate of progress varies for both spoken language development and language development of an AAC user; however, progress may be slower for those with cognitive impairments. Given that predictions about speech development are not completely reliable, the most helpful approach healthcare providers can take when discussing a child’s communication difficulties is to guide parents toward an appreciation that intervention programs that combine augmentative communication strategies along with a focus on improved articulation will be the most successful. The child who does begin to talk has not lost anything, and the child with persistent, severe speech production problems has the tremendous advantage of being able to interact with others to access the knowledge that will promote greater academic and social success.

2.3 Diagnoses Associated with Severe Communication Disorders 2.3.1 Medical A number of medical conditions have comorbid severe communication disorders and may lead SLPs toward consideration of an augmentative communication system. While some children have a single risk factor, others will have multiple risk factors that can combine to have a


more profound impact on speech production. An example is a child who has an intellectual disability, hypotonia, and a behavioral presentation that affects learning. This youngster is at greater risk for lasting communication difficulties than the child who has a single risk factor. However, a single risk factor can have a devastating effect such as with the child in our practice who contracted meningitis in infancy. When he was six years old, he had average scores on nonverbal cognitive measures. This child had received several years of speech-language intervention and was able to produce just one speech sound: “uh.” A shift in his therapy goals to include a focus on AAC was urgently needed. In contrast to children such as the one with meningitis who had a definitive medical diagnosis, there are other children with severe speech impairments who present with a normal neurodevelopmental course and without a specific medical etiology to explain the communication disorder. Both groups of children needed high quality, evidence-based interventions including implementation of AAC strategies.

2.3.2 Medical Necessity The potential outcome is the same for children with a medical diagnosis that explains their disability and those without a medical diagnosis: they are not able to participate optimally in their medical care or in any other aspect of the daily routine if they are not able to convey their thoughts, ask questions and answer questions. When speech is defined as the ability to communicate with others, it is clear that individuals who are unable to communicate adequately improve or regain the ability to “speak” when appropriate augmentative communication interventions are in place. This is true both when the etiology of the speech problem is evident and when it is not.

2.3.3 Behavior From an early age, children use behavior to communicate. The infant who cries when he is

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2 Severe Communication Disorders

hungry gets reinforced for this behavior: parents provide sustenance. As children get a little older, parents learn to differentiate their cries and more reliably predict whether the child needs a bottle, a diaper change, or to be held. The expectation for typically developing children is that they will advance from crying to more sophisticated communication strategies. They will learn to reach for objects or vocalize to get their needs met. When their efforts to vocalize receive a lot of attention, they begin to practice this more and then begin to produce word approximations. Children who are not able to progress from crying to words may persist in crying and add other undesirable behaviors to get what they want. For example, the child who screams and hits may learn that this behavior is a way of asking to be removed from situations he does not like. Research has documented that communication disorders and behavior disorders coexist between 33 and 67% of the time (Gidan 1991; Prizant et al. 1990). While the cause-effect relationship is not well established, the treatment for behavior disorders must incorporate communication intervention as a component of a broader intervention plan that may also include counseling, behavior modification techniques, and medication management.

2.3.3.1 Autism and Intellectual Disabilities The behavioral difficulties that can be associated with autism and intellectual disabilities deserve special consideration. Both of these diagnoses encompass a broad spectrum of developmental issues which may or may not include limited speech production. Children with milder forms of these disabilities may have excellent speech intelligibility and functional language skills. However, there are many who will have significant articulation and language impairments. When limited speech capability coexists with a tendency to be easily upset, the result can be severe behavioral problems that are difficult to treat. Children may resort to aggression, tantrums, self-stimulatory behavior, or excessive whining when they do not have other methods for getting what they want (Mirenda 2005). These behaviors are not unique to children with autism and intellectual disabilities, but when

children have multiple diagnoses it can be more difficult to determine what triggers the maladaptive behavior and equally challenging to plan successful interventions. The research on interventions for children who have autism spectrum disorders, intellectual disabilities, or both shows that using AAC to support language development and social communication in these children has the potential to have a positive effect on both behavior and communication (Romski and Sevcik 2003).

2.3.4 Identification and Assessment A child’s ability to succeed in the classroom, to develop friendships, and ultimately to obtain meaningful employment is directly linked to communication skills. For children with severe communication disorders, reaching these goals begins with a thorough communication skills assessment. This process can be set in motion by the primary healthcare provider who monitors health and development and guides families toward resources and services in the community.

2.3.5 Healthcare Providers’ Roles and Responsibilities Children who have health issues that impact development often have accompanying speech and language disorders. Physicians and other pediatric healthcare providers play a significant role in monitoring a child’s speech and language skills and making recommendations for screenings and, if indicated, full communication assessments. Knowledge of developmental norms and guidelines for making referrals to SLPs is vital. Language development begins within the first few months of life. A newborn baby is exposed to the rhythm or prosody of the speech of others and begins to orient to sounds and then voices in the environment. As early as four to six months, the children attempt to babble, an important precursor to speech. Children speak their first words around 10–12 months of age and begin putting novel two-word phrases together at 18–24 months. Even young infants who are not bab-

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bling when expected and show little interest in social interaction may need speech and language services. Those who have more severe delays are potential candidates for AAC. National and some state programs such as BabyNet, which serves newborns and children up to three years old, may provide speech-language therapy services at no charge. Child Find is the federally mandated public school program that focuses on identifying children three- to sixyear old with disabilities. Public schools provide speech and language therapy services for children who qualify in first grade up to the age of 21 (IDEA P.L. 108–446 2004). Private speech–language therapy services are also available in many communities. Healthcare providers need to be aware of SLPs in their area who are trained to use AAC intervention and strategies to support communication development. In addition, it is helpful to prepare parents for the array of interventions, including AAC, which the SLP may suggest. This focuses the caregivers on the idea of supporting communication development rather than focusing solely on speech production. Further, this alerts the SLP that the expectations for this child include the possibility of AAC interventions so that this is explored early in the relationship with the family. Physicians are sometimes asked to play a unique role when children need AAC to support the idea of communication as interaction: third party payers sometimes require a prescription from the child’s primary care provider when purchase of a voice output device is being considered. The cost of these devices ranges from US$ 100 to as much as US$ 16,000. Therefore, the physician who is writing the prescription needs to have confidence that the SLP who is recommending the voice output device has made an appropriate selection that will meet the child’s needs for several years.

2.3.6 SLPs’ Assessment Roles and Responsibilities When a communication disorder is either suspected or present, a referral to an SLP is indicat-


ed. While SLPs are not the only source of communication stimulation for a child, these professionals have the training to help support both the child and those who interact with the child. This support targets not just how the child sounds and what words he says but also how well he uses his knowledge in the everyday routine. Communication assessment of children who have some speech: Many children who have AAC needs will have at least some residual speech that can and must be nurtured. These children may be able to participate in aspects of a test protocol that includes standardized testing. The testing will encompass the following areas:

2.3.6.1 Language Language assessments typically include components that measure five areas: morphology (grammar), phonology (speech sounds), syntax (word order/sentence length), semantics (vocabulary/meaning), and pragmatics (social language use). Children with autism spectrum disorders (ASD) have the most difficulty with the communication-social component of language (Mirenda and Iacono 2009). Children with very severe communication impairments may have difficulty in all of these areas of language. Pragmatics deserves special attention because the ultimate goal is for children to become independent, socially appropriate, and appealing communicators. This area is the interface of speech and language skills with daily routines and familiar and unfamiliar communication partners. Pragmatics is a key consideration in the development of AAC systems that are effective and contribute to improved quality of life. Even though there are standardized tests for pragmatic skills, these are not normed for children with severe communication disorders. Therefore the SLP will assess pragmatic language through informal observations and caregiver interviews. 2.3.6.2 Articulation This is often the most obvious area of communication impairment. Standardized testing includes administration of tests designed to elicit production of all the speech sounds of English. Children who have a very limited speech sound repertoire

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may be asked to imitate very simple words or single consonant or vowel sounds. An interesting phenomenon that has a profound effect on speech intelligibility is the inconsistency that is evident with apraxia of speech which is a disorder of motor speech programming. Children with this disorder often cannot imitate the sounds that they produce regularly in their spontaneous speech attempts. Those who have motor weakness ( dysarthria) will consistently have difficulty producing sounds clearly. Children may also have a resonance disorder ( hyponasality or hypernasality). Oral structure and function impairments may result in constant or profuse drooling, which may be remediated with positioning techniques, lipstrengthening exercises, heightening increased attention to maintaining a closed-mouth posture, or prescription drugs such as Robinul. Severe oral structural impairments can drastically affect articulation skills and may need to be addressed with surgery. Like many other aspects of communication, children may have combinations of developmental speech sound errors and apraxia, dysarthria, and/or oral structural impairments.

2.3.6.3 Fluency A fluency disorder is characterized by deviations in continuity, smoothness, rhythm, and/or effort with which phonologic, lexical, morphologic, and/or syntactic language units are spoken (ASHA 1999). When children with Down syndrome, Fragile X, Moya Moya disease, and traumatic brain injury have severe communication disorders, stuttering may be a concomitant feature (Van Borsel et al. 2006; Van Borsel and Vanryckeghem 2000). 2.3.6.4 Voice Voice disorders involve complications in one or more aspects of vocal quality (hoarseness, stridency, breathiness), pitch (frequency), loudness, and/or duration (length of time speaking on a single breath), given an individual’s age and/or gender (ASHA 1993). Generalized neuromuscular impairments can have an impact on breath support for residual speech in children with severe communication disorders. Maximizing postural integrity through improved seating systems may

increase breath support for longer utterances. Amplification of residual speech in children who speak softly may decrease breathiness that arises from the child’s efforts to “shout” to be heard.

2.3.6.5 Vision and Hearing Determining if there are sensory deficits that could impact the use of an AAC system is essential. Referrals for vision and hearing assessment may be suggested before determining the best AAC device for the child. 2.3.6.6 Motor Skills Optimal positioning is paramount to gesture and sign language or accessing a communication device and an SLP may refer the child for a seating and positioning assessment prior to beginning AAC device trials to ensure a child’s optimal access to an AAC device.

2.4 AAC Assessment In contrast to the relative objectivity of standardized testing, AAC assessment has many more informal, subjective components. A number of resources have excellent information on planning and conducting this type of assessment (Beukelman and Mirenda 2005; Hegde and Pomaville 2008). Unlike standardized testing which may be completed more quickly, a comprehensive AAC assessment may not be completed within the first appointment. Assessing the communication skills of children who have limited language is frequently a challenge. These children use little or no speech, and they are often described as prelinguistic. Some of them may show little interest in playful interactions and others may have physical disabilities or sensory deficits that have limited their access to the world around them. With children who are functioning at this level, the merits of standardized testing are debatable when all the test items are too hard for the child. Obviously, there are agencies that require test scores even when standardized testing seems counterproductive. Another concern about standardized testing with children who are prelinguistic is that we are

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often left knowing more about what they cannot do than what they can do. Without some idea of what the child is communicating in less conventional ways, we do not have an appropriate starting point for intervention. Further, the energy expended in charting the absence of skills reinforces the sadness and pessimism that caregivers may already be feeling. Every skill the child demonstrates is a valuable skill, and beginning with a functional assessment of all the ways a child communicates is the most effective way to help caregivers fully appreciate their child’s potential. Donnellan (1984, p. 141) introduced the “Criterion of the Least Dangerous Assumption,” which suggests that it is best to assume all individuals have something to communicate, but have severe difficulty doing so. To err on the side of assuming competence is to set the stage for creating positive outcomes. Notice the difference between focusing on what a child cannot do and what a child can do: • “The child is nonverbal, only answers limited yes/no questions with head movement, and cannot access (point to) pictures of objects indicating wants and needs,” compared to, • “The child can nod/shake his head yes/no to concrete questions about objects to meet wants and needs, uses eye gaze for direct selection of a photo indicating a want/need from a field of eight photos positioned approximately 18 inches away from him.”

2.4.1 History Collaboration with teachers, occupational therapists, physical therapists, teachers of the visually impaired, and input from the parents and the child with the communication disorder are critical for the decision-making process (Angelo 2000; Parette et al. 2001; Kintsch and DePaula 2002; Beukelman and Mirenda 2005). Reports of what has been tried in the past and insights regarding what strategies and equipment did or did not meet the communication needs are valuable. As with any speech–language assessment, the results of medical, educational, vision, and hearing


assessments will be important elements of the assessment plan for these children.

2.4.2 Ecological Inventory When a standardized test must be administered to satisfy an agency’s eligibility requirements, the SLP can still support the development of appropriate goals by supplementing the test results with what is variously called an ecological inventory, a routine-based assessment or a functional assessment. Using an ecological inventory for obtaining subjective, pragmatic information can provide far more information than structured standardized tests for children with severe communication disabilities. The interview component of an ecological inventory often infuses caregivers and interventionists with greater optimism about the child’s potential and that alone is reason enough to focus on this to obtain baseline data for intervention planning. A typical ecological inventory (Nalty and Quattlebaum 1998) will include the following questions: • How does the individual communicate now (gestures, signs, eye gaze, vocalizations, limited verbalizations, object symbols, picture symbols)? • What are the child’s favorite activities, objects, places, people, and foods? • When does the child try to interact with others the most? • Where does the child communicate now? • What environmental barriers exist? Does one communication device or system work better in one environment than another? • Does the child fatigue quickly? Under what conditions, if any, can the fatigue be minimized? • Who does the child interact with (e.g., friends, siblings, teachers, medical personnel, etc.)? • What communication partner barriers exist? Is one communication partner reluctant to a new way of communicating or to learn new technology? Will one partner need more training than another?

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2 Severe Communication Disorders Table 2.3 Example of an ecological inventory for a morning routine

Daily Routine Ms. Smith was interviewed about the typical daily routine to better learn about the types of communication symbols Jarrod is using at home. She described a typical school morning as follows: 7:00 a.m. Ms. Smith walks into Jarrod’s room to wake him up. He will sit up and look around briefly. Then he will look at his mother, make eye contact and smile. Ms. Smith helps him get off of his bed. Then he takes her hand to lead her to the bathroom. Ms. Smith puts him on the toilet. Jarrod wears pull-ups. He does not indicate that he wants a clean pull-up. He takes his pull-up off later in the day, but he does not usually do this first thing in the morning. Ms. Smith washes Jarrod’s face and brushes his teeth. Jarrod can provide some assistance with this 7:15 a.m. Ms. Smith gets Jarrod dressed. His father selects his clothes for him. Jarrod can assist with parts of the dressing routine 7:20 a.m. Jarrod goes downstairs on his own accord. He will get a banana or some grapes for himself. When Ms. Smith comes into the room, she will offer him something to eat. If he does not want what she has offered, he will begin pointing to things. He will push items away until he gets what he wants. If Jarrod wants more, he repeats the same routine of pointing toward the cabinet that has what he wants. Jarrod walks away when he is finished 7:40 a.m. When Jarrod sees everyone going to the door, he gets his jacket and goes to the door. After they arrive at school, he will occasionally wave goodbye Jarrod’s parents provided the following list of activities and objects he likes: bathing/water play, swinging, sliding on the slide, walking around holding objects, fruit, chicken nuggets, and running

• How does the child learn best? Is the child a visual or auditory learner? • What aspects of the child’s current communication system work well? The basic goals of an in-depth interview about the daily routine are to determine what the child is doing to participate in routines and what the child likes to do (Table 2.3). This ecological inventory of the morning routine showed that Jarrod uses eye contact and smiling to interact with family members. He can point to show that he knows where his favorite foods are kept, and he makes selections by pushing away objects/foods that he does not want. The interview also revealed that there are some additional opportunities for increasing Jarrod’s communication skills. For example, pauses could be used to encourage him to signal that he knows what is coming next in a routine, and he could be taught to do more choice making when objects are presented to him. An analysis of Jarrod’s interactions revealed numerous deliberate attempts to communicate. Some children will not show as much evidence of interest in communicating. Ideas for interventions for children who are not yet showing much intentional communication are available in the book by Korsten et al. (2007). The authors outline strat-

egies for objectively identifying a child’s sensory preferences and then using these preferences to develop higher-level communication skills.

2.4.3 Feature Matching Feature matching describes the process of determining what communication system would be best to explore. The major aspects to consider when beginning a feature match are the child’s current level of skills, daily needs, current communication system, and future communication needs. It eliminates the chance of selecting a device based on its popularity or an ambiguous determination of being “the best one.” The website created by AbleData (http://www.abledata. com/abledata.cfm?pageid = 19337) lists many assistive technology products including AAC products and their features. The best communication device or system will always be the one that has the features that meet the needs arising from the child’s disabilities. Determining the optimal feature matches begins with looking at the individual assessment objectives and their associated features. The child’s assessment team uses selection criteria to match the features to the child’s needs based on their abilities (Table 2.4).

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Table 2.4 Feature matching Objective Shared symbol system

Feature Unaided: Signs and gestures Aided: Objects, photographs, graphics, and/or text Development of a Single-meaning pictures: One symbol has language system one meaning representing one word or an entire thought Semantic compaction: Symbols combined to generate vocabulary Spelling: Letters combined to create words Vocabulary: Core vocabulary of common, Construction of messages to interact frequently used words combined with personal vocabulary with others Access to commu- Direct selection: nication symbols Message activated by pushing against the device surface or using eye gaze Keyguard to prevent accidental activation of letter and picture symbols Indirect selection/switch scanning: Step, linear, row/column, block Minimizing visual impairments: High contrast settings Zoom and magnifying options Large display communication devices Auditory scanning

Selection Criteria Choose one or more types of symbols that are consistent with the child’s cognitive and literacy capabilities to nurture multimodal communication Choose one or more language system(s) that are consistent with the child’s cognitive and literacy capabilities

Choose meaningful vocabulary to motivate the child to communicate. A resource is http://aac.unl.edu/vocabulary.html Choose selection method that child can reliably use to efficiently access communication symbols Abbreviation expansion, word prediction, and phrase prediction can minimize fatigue Choose one- or two-switch scanning method that maximizes the child’s reliable movements and is consistent with the child’s cognitive capabilities Choose background and foreground color, text and symbol size that allow the child to see and discriminate between symbols Choose auditory options so child can choose communication symbols based on using hearing

Minimizing hearing impairments: Amplification

Access to communication device

Choose amplification level so the child can hear the voice output Visual activation cues Choose visual activation cues so the child can see what communication messages are selected Carrying case/shoulder strap: For children Choose a carrying system that allows the child to who are ambulatory independently carry the communication device while ambulating Choose a mounting system that provides access Mounting systems: Fasten device to a to the communication device while the child is stand or to a wheelchair or bed for chilseated or lying in bed dren who are non-ambulatory

A final major consideration for a feature match is the child’s future communication needs. While meeting the child’s present communication needs is paramount, addressing the communication needs of the future plays a critical role in determining intervention goals and objectives and in selecting communication devices. For example, a child with a degenerative condition may need to practice eye gaze access to a dy-

namic display communication device if other forms of access are expected to deteriorate.

2.5 AAC Devices Although there is great diversity within specific diagnoses, a specific diagnosis does not indicate the need for a specific device. Device tri-


als are an integral part of the feature matching process. Determining the best communication system includes a trial period for the child to use the device during daily routines and collecting data to support the recommendation for a specific device. Communication devices can be borrowed from most vendors or from State Tech Act programs (http://www.resna.org/content/index. php?pid = 132). Many of these programs offer free AAC device loans and have a device demonstration center. AAC device vendors can often make arrangements such as rent-to-own, rent, or a free loan to an AAC professional. In addition, most vendors will assist the SLP through programming demonstrations or providing information about training webinars or teleconferences. Communication equipment is often referred to by its level of technology using three primary categories: low, mid, and high. The words “low,” or “mid” may appear to indicate that these communication devices lack effectiveness, are easy for all AAC users to learn or require less knowledge on the part of the team working with the child, but this is not the case. Again, the most appropriate device is the one that has the features the child needs. As progress is made, documenting the AAC user’s skill with low- or mid-tech devices supports funding requests for more advanced systems. Regardless of the level of technology, it is important that communication devices are recommended based on the results of a thorough assessment and feature match. “Low-tech” includes communication boards and booklets. Low-tech devices are relatively inexpensive to purchase, or can be quick and easy to construct and are typically easy to modify. Many consider it prudent to introduce low-tech communication devices during the assessment process to kickstart the intervention process, obtain useful information about issues related to feature matching and as a backup for mid- to high-tech devices. “Mid-tech” communication devices require battery power for operation, cost more than lowtech devices and require communication partners to have at least a cursory knowledge of how to program, operate, and maintain the communication device. Human voices are digitally recorded on mid-tech devices.

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“High-tech” communication devices typically provide a larger vocabulary than low- and midtech devices. Many high-tech devices include digitized and/or computer-generated synthesized speech. The training required and the programming and maintenance of the devices can be more involved than low- and mid-tech devices. However, when feature matching shows a need for a high-tech communication device, the impact of these devices in meeting the communication needs of severely multiply-disabled children cannot be overemphasized. Readily available mainstream handheld devices with Apple, Android, or Windows operating systems are increasing in popularity and have AAC software or apps. However the software or apps may not be robust enough to meet all the child’s communication needs. Vendor support and training, device warranties and device durability must be taken into consideration. As with all AAC devices, trial use and careful documentation of effectiveness continues to be important components of an AAC assessment.

2.6 Standardized Tests, Observation, and Reports from Significant Others Standard scores, percentile ranks, and age equivalents are valuable objective data to be reported in a summary. Descriptive data from standardized tests are reported if the child is very young or severely delayed in the area of expressive or receptive communication skills. The importance of subjective information cannot be overstated for children with severe communication disabilities. Informal observations are made before, during, and after the standardized testing process. These descriptions should include comments about the child’s response to new people and objects in their environment, to structured versus nonstructured tasks, and to motivating and nonmotivating items or activities. Spontaneous communication in the form of gestures, facial expressions, body posture, and vocalizations should be documented. Parents, school staff, and significant others can be given

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questionnaires to fill out prior to the assessment. These questionnaires will include space for the child’s medical history, descriptions of the child’s current communication and participation in the daily routine, information about motor skills and reports of behavioral issues that may exist. The feedback from the questionnaires provides great insight regarding the child’s communication skills during a typical week. Parents and other team members will be interviewed further on the day the child is assessed.

2.6.1 Summary of Findings The summary of all the information gathered through formal and informal testing is compiled into a report. This report provides the physician, parents, therapists, school staff, early interventionists, and others with detailed information about the child’s communication skills, communication goals and objectives, strategies that facilitate communication and any recommended AAC devices. Sometimes ongoing therapeutic trials of AAC strategies and equipment are recommended.

2.6.2 Prognosis for Success Successful outcomes in AAC are specific to each user, and the traditional language development paradigm is not always the best model for measuring success. For some children, success might mean increased participation in an activity or in interactions with familiar partners. The prognosis for success is based on many factors, and the child’s health status, motivation and support from others are the foundations for this determination. Strengths in all three areas are not always needed for successful outcomes, but a pattern of strengths leads to more reliable predictions about future outcomes.

2.6.2.1 Extrinsic Indicators Children with severe communication disorders need considerable support from family, school staff, and therapists to learn new communica-


tion skills. Using a team approach to intervention maximizes the benefits to the child, and team members learn from each other. The parents play a powerful role in the team. All the other team members must remember that parents have developed the interaction style they use with their child in response to the child’s communication efforts, and the parent–child interaction style may have been profoundly affected by the child’s health issues. It is not uncommon for family members and other communication partners to reduce the communication demands on a child with severe or multiple disabilities as they focus on the complex process of meeting the child’s basic needs. The communication partners may have developed a pattern of speaking for the child and making decisions for him. The parents’ ability to shift their focus as the child’s health stabilizes so that they can incorporate therapy objectives during everyday routines is an indicator for a positive outcome. Likewise, when teachers, early interventionists, shadows, or aides think creatively about how best to facilitate the child’s communication skills throughout the school day, the prognosis is more positive. If it is possible for the child’s SLP to cotreat with other team members, this has the benefits of modeling communication–stimulation techniques for the other interventionists while reducing any confusion the child may experience when seeing multiple therapists in separate appointments. This empowers all adults who interact regularly with the child to model language using the AAC system.

2.6.2.2 Intrinsic Indicators When a child realizes the power of communication and is motivated to be an active participant in learning language and engage with communication partners, the prognosis for improvement is good. Some children experience the frustration of attempting to communicate through limited vocalizations, unnoticed or misunderstood gestures or body postures or misinterpreted attempts to localize with eyes or head position. This can lead to learned helplessness and being a passive observer rather than active participant. Some of these children focus on pleasing others rather than actively learning a symbol system or how to


use language to meet some of their needs. Unless the child can be engaged regularly and experience the power of being an active participant in the communication exchange, the prognosis remains guarded.

2.6.3 Stable Versus Progressive Medical Condition The child’s diagnosis of a stable medical condition plus positive extrinsic and intrinsic indicators suggests a successful outcome in improving communication skills. However, children who have medical diagnoses that will lead to developmental regression also need AAC interventions. In these circumstances, the child’s ability to learn or maintain communication skills may be impacted by increased fatigue, impaired access to the communication device and pain or sickness associated with a declining medical condition. A multimodality communication system can be implemented to prepare the children for a mode of communication they will need to rely on more heavily in the future. For example, a child may be a proficient communicator with eye gaze, facial expressions, gestures, signs and a communication device today, but it is anticipated that eye gaze, facial expressions, and a communication device will be the best modes of communication as the disease process progresses. The SLP will monitor the child’s changing needs and make changes to his communication system to increase the likelihood of ongoing communication success during the disease progression.

2.7 AAC Intervention Intervention for AAC use is the next critical step after the assessment. This is the culmination of the information collected during the assessment put into practical application. Intervention begins with writing functional communication goals. AAC intervention must be based on evidence that has been established by research and clinical and educational practice (ASHA 2005). Although basic therapeutic concepts have been described

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in the literature, the features of each communication system remain specific to the individual user. Communication goals should be culturally and linguistically appropriate and should include a strong commitment from family members. Research shows that when the users of electronic communication devices have the opportunity to practice frequently with caregivers who show that they value this type of communication, the intervention is much more successful (Dada and Alant 2009; Romski and Sevcik 2003). Modeling the use of the AAC system is known as Aided Language Stimulation or Augmented Input Strategies. In some respects, AAC interventions for severe communication disorders mirror medical models of intervention for chronic medical conditions such as diabetes, high blood pressure, and sickle cell anemia. The patients with these conditions and their health care providers share the goal of optimal management of the symptoms. Plans for treatment are made with the understanding that while the disease cannot be cured, appropriate treatment can (a) help patients live the most normal lives possible and (b) decrease complications and costs in the future. Intervention for severe communication disorders can be viewed within a similar framework. SLPs carefully evaluate the communication abilities and potential of each child, consider the child’s support network and prescribe appropriate interventions. Following this, SLPs work with the child and all of the child’s caregivers to maximize the child’s success with the AAC interventions that are suggested. As the intervention begins, it is crucial to help the team distinguish between AAC and other learning, symbol, and picture tasks. As parents, teachers, and other interventionists work with children who have severe speech impairments, they ask these children to do what all children are expected to do: demonstrate what they know so that adults can measure their knowledge. The child’s responses can take many forms depending upon any motor difficulties or cognitive delays that may be present. Some children will look at the object as it is named to signal that they recognize it. Others may be asked to point to pictures

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or to use an adapted keyboard to type the answer to a question. The difference between AAC and other types of learning activities must be clarified from the outset because this confusion can create significant problems for both the AAC user and those who interact with him. A common misconception is that any activity done with “pictures” is the same thing as AAC. In fact, pictures are used for many different purposes in the classroom and at home to meet cognitive/academic goals such as: • Learning family members’ names • Learning new vocabulary • Reading comprehension • Matching • Sorting • Understanding the daily schedule • Learning the written form of the child’s name from seeing this matched with the photo The key difference in AAC is that accessing the pictures is NOT the goal; real, meaningful interaction in a natural, spontaneous conversational context is the goal. An analogy is that a car is a tool that takes you to the beach, but the car is not the same thing as the vacation. In the same way, AAC is a tool that takes you into social interactions. The focus is on using pictures to engage another human being rather than on using pictures to demonstrate knowledge. In our experience, this confusion between how picture symbols are used in AAC and how pictures can facilitate other types of learning is quite persistent. For example, picture identification is a skill that children are taught from a young age. Parents want their children to recognize pictures of family members and to identify pictures in storybooks. Increased adeptness in this skill is associated with increases in cognitive skills, and so picture identification is a way that parents can celebrate their children’s achievements. When families are asked to use pictures to nurture communication, they often need a lot of support and training as they shift from a focus on eliciting responses in a teaching format to using objects, pictures, etc. to nurture improved social communication skills. Using pictures and other symbols to communicate is a skill that has to be taught, and we


suspect that it is the teaching component of AAC that so quickly gets interventionists off track. The natural tendency is to go back to using pictures to demonstrate receptive skills and knowledge. Using pictures for expressive communication requires creativity and an unwavering focus on the goal: achieving social communication that is meaningful by broadening the scope of interactions beyond simplistic demonstration of knowledge and allowing the AAC user to develop the unique personhood that stems from the ability to express his thoughts. Failure to understand how to use symbols to support communication has major consequences; children who have had to point to pictures over and over again in learning tasks need an entirely different type of experience in order to recognize the value of using pictures to develop connections with the people around them. The focus shifts from demonstration of knowledge to demonstration of a desire to engage other people both in the ideas that are interesting to the AAC user and in discussions of the ideas that interests others.

2.7.1 Vocabulary Selection for an AAC System The goal for vocabulary selection is to provide a means for the child to interact with others to participate fully in home, school, and community environments (ASHA 1993). Selection of motivating vocabulary is crucial if the child is expected to improve his communication skills. This means that the child’s interests are considered first, and the vocabulary should include a variety of word types. While nouns provide the child opportunities to meet basic wants and needs, the vocabulary is not varied enough to allow the child to learn or experience the benefits of using a rich communication system to meet social and emotional needs. Vocabulary development is as closely linked to social and emotional development as it is to language development. As they mature, children are expected to talk about their unhappiness rather than engage in misbehavior. Parents of typically developing children spend a great deal of

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time and energy supporting this aspect of development at least until their children are old enough to live independently. A number of reports indicate that children with delayed language skills show an increased prevalence of problem behaviors. (Chamberlain et al. 1993; Pinborough-Zimmerman et al. 2007; Prizant et al. 1990; Sigafoos 2000). Therefore it is not surprising that even when early intervention has taken place, children with severe communication disorders may have behavior problems that must be addressed. Concerns may include ADHD, frustration, tantrums, aggression, withdrawal, or combinations of these. Careful vocabulary selection can provide acceptable communication to replace these problem or challenging behaviors. The research is compelling, and it shows that improved communication skills can dramatically improve behavior (Sigafoos et al. 2009; Wacker et al. 2002). Vocabulary selection should rely heavily on what is known as core vocabulary. Core vocabulary consists of a few hundred words that make up about 80% of what typical speakers say (Baker et al. 2000). Most of the core vocabulary words are not easy to represent with pictures or objects so the symbols for them may have to be taught. These words include pronouns, verbs, articles, adjectives, and demonstratives. If a child’s beginning AAC system offers a limited amount of messages on the communication device, core vocabulary can maximize available message space by providing a small vocabulary set that generalizes across communication environments. Further, core vocabulary facilitates generative language skills ( Cannon and Edmond 2009). Generative language provides opportunities to express fuller meaning as a result of putting words together. For example: a child using a voice-output communication device can send one prerecorded message “Let’s go to McDonald’s,” or send two prerecorded messages “go” and “eat.” The sentence indicates only one meaning, whereas combining words allows the child to begin an interaction with their communication partner who will then ask, “Where do you want to go to eat?” This allows the child to experience new things by asking for different dining places over time. An additional ben-

efit is that the child learns the rules of syntax by combining words to create different meanings. Careful consideration should be given to storing sentences that address more urgent or frequent needs as single messages. These may include “I need help,” “Please ask yes/no questions,” or “It’s not on my communication board/device.” For other messages, access to the core vocabulary should be the priority.

2.7.2 Routine-Based Interventions Routine-based interventions begin with the information obtained from the ecological inventory. This information is used for introducing many opportunities for the child to communicate throughout the day during typical activities. The vocabulary may be available in one or more types of symbols or devices and is conducive to communication exchanges throughout the day.

2.7.3 Writing Individualized Education Plans (IEPs) for AAC Use in the Classroom The Individuals with Disabilities Education Act (IDEA 2004) states that the need for assistive technology must be considered for every child with a disability. Assistive Technology devices are defined in IDEA 2004 (§ 300.5) as “any item, piece of equipment, or product system, whether acquired commercially off the shelf, modified, or customized, that is used to increase, maintain, or improve functional capabilities of children with disabilities.” One type of assistive technology is AAC devices. IDEA 2004 (§ 300.6) defines an assistive technology service as “any service that directly assists an individual with a disability in the selection, acquisition, or use of an assistive technology device.” The service includes a functional evaluation in the child’s natural environment; providing acquisition to an assistive technology device; customization, maintenance, and repair of the device; coordinating therapies, interventions, and services with current education and rehabilitation plans; and training the

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child who uses the device and the child’s communication partners. IDEA 2004 (§ 300.105) also describes each school’s responsibility to provide assistive technology devices or services if these are required as a part of the child’s special education, related services, or supplementary aids and services. If the IEP team determines that AAC is needed, then the components of this intervention must be described in the child’s IEP. To ensure the use of AAC in the classroom, the team documents the child’s communication, academic and functional needs along with the child’s strengths. A statement is included in the IEP about the child’s academic achievement and functional performance, including how the child’s disability affects participation and progress in the general education curriculum. Based on this information, measurable annual educational and functional goals and objectives are written in the child’s IEP (Downey et al. 2004). An academic goal should be written to include the area of need; the direction of change; the level of attainment (Wright and Laffin 2001); and how the AAC device relates to a functional task. For example, the present level of academic achievement and functional performance may show that the child uses varying vocalizations to get attention, greet others, to protest and to answer simple yes and no questions. The child also uses eye gaze to indicate a desire for things in the immediate environment. With a new focus on AAC, the child has begun to demonstrate some success using eye gaze to select one of four choices for activities and can push a single-message voice output device with the left hand. An example of a short-term objective is: During group singing time, the child will use a single-message, voiceoutput device to participate with peers in the repeated chorus 90% of the time as observed during 10 random trials. Another example could be: Using a portable eye gaze frame, the child will indicate a preference between four choices 80% of the time in five random trials. Notice that the focus of these objectives is on relating the use of the technology to a functional outcome. The equipment should not be viewed as an end in itself, but rather a means to an end.


2.7.4 SLPs’ Intervention Roles and Responsibilities The American Speech-Language Hearing Association has prepared a position statement on the roles and responsibilities of SLPs with respect to AAC. It states that providing AAC services is within an SLP’s scope of practice. SLPs should acquire training and resources to serve those who may benefit from AAC; assess and provide functional treatment with a multi-disciplinary team approach; use a multimodality approach; document outcomes; and recognize and support the way an AAC user prefers to communicate to maintain and promote quality of life (ASHA 2005). SLPs should have knowledge of typical developmental stages and skills, conduct comprehensive assessments, identify strategies and implement a comprehensive intervention plan, and assess effectiveness of the AAC system (ASHA 2002). If the SLP has not had adequate training in AAC practice, he or she must refer to another professional who can provide quality services.

2.7.4.1 Creating/Providing Communication Systems Because AAC is consumer driven, the type of symbols, layout of symbols, language system, and level of technology are determined individually for each child and are components of the communication system. More than one low-tech communication system can be created to meet the communication needs across different environments. Typically, the child’s SLP is responsible for the construction of low-tech communication systems or securing equipment loans for mid- or high-tech system trials. Low-tech communication devices can be constructed and provided immediately so that higher-level communication skills are nurtured in advance of a more sophisticated communication system that may be needed. Sometimes AAC devices are purchased just before students transition into new programs and at other times the parents may purchase devices without the type of assessment or device trial described as best practice. This has occurred with increasing frequency as mainstream devices have become more popular as less expensive alterna-


tives to dedicated AAC devices. As a result, there may be different opinions about what device best meets the child’s needs. At these times, utmost diplomacy and regard for each team member’s contribution is important in determining how existing devices fit into the child’s multimodal communication system.

2.7.4.2 Educating Communication Partners The success of a child’s communication system increases when SLPs teach parents, teachers, teaching assistants, other therapists and aids how to encourage the child’s functional use of the communication system throughout the day. The SLP should also teach these partners to model the use of the communication system and learn programming basics for mid- and high-tech devices. Team participation and feedback are essential as changes and updates to the available vocabulary and symbol layout are necessary as the child learns a new communication system. 2.7.4.3 Therapeutic AAC Device Trials Upon using the AAC device consistently for several days, the child may begin to interact with the device less and less or refuse to use the device. Some children may not be able to express themselves well enough to give an adequate explanation for this rejection. There are many reasons that the device may be neglected or refused. The device may be too heavy, or the symbols may be too small, too complex, too abstract or unmotivating. Perhaps the communication partners are not modeling and encouraging the use of the device during the naturally occurring activities. The SLP will want to contact the team members to discuss their impressions of why the child is resistant to using the communication device and implement changes based on observation and feedback from them. Documenting the level of success the child has using the device provides data to share with funding sources. Providing data on several different AAC device trials informs funding sources that the device is recommended based on evidence of being the optimal fit for a particular child’s communication needs and not because it is the only one tried or the one deemed best in the market.

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2.7.4.4 Funding and Letters of Medical Necessity (LMN) Professionals who support children with communication disorders can reach consensus on the premises that (a) communication is a fundamental element of human existence, (b) without communication, interactions that nurture basic health are not possible, and (c) electronic communication devices are a reasonable response whenever all lower-tech options have been considered and proven inadequate. Usually vigorous efforts are needed to secure funding for these more costly devices. Assisting with funding requests requires dedication and a significant time commitment of the SLP. In addition to the traditional speech and language evaluation and report, Medicaid and other third party payers also require the SLP to write a letter of medical necessity (LMN). The LMN incorporates specific information about the child’s communication skills and how AAC equipment is able to meet those needs and is sent to the physician to request a physician’s order for a particular AAC device. The LMN and the physician’s order are used for applying for funding and justifying the request through a variety of payer sources. If the initial funding request is denied, an appeal letter is written with additional justification. School districts are required to provide communication devices for a child if they are deemed necessary for the child to receive a Free and Appropriate Public Education (FAPE). Schools may purchase an AAC device through their budget or through available federal or state grants. It is not unusual for schools to be reluctant to send electronic AAC devices home with children. If the AAC device is written in the IEP as required tool for the child to complete homework, then the device must be sent home with the child to ensure a FAPE. A limited number of federal or state grants may be available to schools to purchase AAC devices. As a result of funding constraints that agencies face, some may feel compelled to divide communication into components that relate to home, school, medical settings, etc. or to develop specific guidelines that place constraints on funding based on variables such as age and type of

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disability. However, it is not possible for SLPs to ethically restrict communication opportunities to a specific environment. If it is appropriate for the child to use a mid- to high-tech AAC device beyond the school setting (e.g., the home and the community), insurance or Medicaid funding may be investigated. Insurance options must be explored prior to seeking Medicaid funding as Medicaid is the payer of last resort. To receive Medicaid funding, the child must be eligible for Medicaid and the AAC device must be deemed medically necessary. Private avenues of funding include church groups, service clubs such as Lion’s Club, Sertoma Club, and Shriner’s, local charities and private pay. While the value of communication cannot be overstated as it relates to the potential for participation in the daily routine and communicating health concerns, fiscal responsibility is an equally important consideration. The purchase of an electronic AAC device is appropriate only when there is compelling documentation of the other strategies and techniques that have been tried and have proven inadequate. It is reasonable to assume that more expensive communication devices would require extensive documentation that explains why less expensive alternatives are inadequate and that these requests would be scrutinized very carefully.

2.8 Parents’ Roles and Responsibilities Parents whose children have severe communication disorders are thrust into systems and services that can be confusing and overwhelming. For some parents to be successful participants in AAC implementation, they may need an initial period for mourning and acceptance (SeligmanWine 2007). Team members have to respect this journey and support both parents and children as they move through the grief process. It is not possible to predict how quickly parents will move toward acceptance of AAC systems, and research shows that parent involvement varies greatly during AAC assessment and implementation (Bailey et al. 2006). Some basic respon-


sibilities that parents face when their child first receives an AAC device include programming, participating in vocabulary selection, facilitating device use across settings, modeling device use, troubleshooting device problems, and the daily upkeep and cleaning of the device. Parents must also allocate the time and effort required for these activities as they continue to support their child’s development in other areas. They will benefit from referral to support groups or possibly individual counseling as they balance all the demands of raising a child with special needs.

2.8.1 Parent Participation in AAC Training Training is often available from the child’s SLP and device vendors and through workshops, conferences, seminars, and webinars held by specialists in the field. The parents’ goal will be learning how to maximize naturally occurring communication interactions through modeling the use of the device in motivating activities. They also need to learn to program and maintain electronic communication devices, make decisions about appropriate vocabulary, and recognize possible signs of need for small or large changes to a communication system. Acquiring this amount of information and skill may seem overwhelming at first, but it can be learned over time.

2.8.2 Creating Opportunities for AAC Use Across Environments Training the child to use AAC strategies in the home and community requires that parents become familiar with the AAC objectives and how to apply them during naturally occurring activities. Parents also need to educate other family members and significant others in the community about how best to communicate with their child. Including a message on the child’s communication device stating how the child communicates and how others may best communicate with the child may be beneficial. Children always require many opportunities to practice communication

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skills to facilitate communication in and across environments. For example, a child may learn to use his communication system at home to talk with his parents about his experiences in school (Bailey et al. 2006).

2.8.3 Advocating for the Child A parent’s ability to advocate for their child’s right to communicate, obtain an AAC assessment and AAC intervention requires knowledge of federal and state laws and policies and procedures. The onus is often on the parent to become selfeducated about their children’s rights and available services and resources. Schools, state tech act programs, early intervention agencies, and support groups can be valuable resources for this information. A parent may need to remind professionals to include them as part of their child’s assessment team, as participants in device selection, and as participants in vocabulary selection on the communication device. Transition planning Specific transitions during the child’s development may trigger consideration of an AAC reassessment. Examples are moving to a new school or home or when the developmental picture changes significantly. Parents will need to meet with the child’s school team before and after changes take place to ensure that the AAC system travels with the child and continues to meet the communication needs of the child. An excellent resource for supporting older students is Transition Strategies for Adolescents & Young Adults Who Use AAC (McNaughton and Beukelman 2010).

2.8.4 Updating An AAC system should provide a means for allowing a child to meet his communication needs now and in the future. Ongoing monitoring is needed to determine if the AAC system is providing a means for the child to engage meaningfully in social relationships and participate in activities with success (Beukelman and Mirenda 2005). The monitoring

and updating of an AAC system is dynamic in nature and therefore never ends. The AAC systems used by children typically need updating each time a significant school transition occurs or when there is a significant change in development. As the child’s communication and literacy skills improve, the AAC system will again need updating. A successful AAC system is based on the needs identified during the assessment and provides a means to expand and thereby enhance the quality of social interactions and activities commensurate with the child’s typically developing peers.

2.9 Literacy, Language, and AAC It has been suggested that “children with developmental speech/language impairments are at a higher risk for reading disabilities than typical peers with no history of speech/language impairment” (Schuele 2004, p. 176). Factors that may positively influence a child’s literacy skills are plenty of opportunities to practice reading and writing, exposure to topics of interest to the child, regular exposure to peers who read and write, and many experiences of success while reading and writing (Special Education Technology–British Columbia 2008). A child with a severe communication disability may begin communicating with AAC using single word messages only which should be drawn from core vocabulary lists. Often, initial communication focuses on the use of single nouns or verbs. If single-word messages are selected to nurture symbol sequencing, the child has the opportunity to combine single symbols to demonstrate an understanding of semantics, combine symbols to communicate phrases, or sentences that may increase the specificity of meaning, promote generative language and develop knowledge of syntax. Syntax refers to how words are combined and is important for both communication and literacy skills. For example, the child may initially use the communication system to express “juice.” With practice, the child may combine single words to convey specific information about the juice such as “want juice,” “no juice,” or “more juice.” This skill can

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be extended to literacy as the child learns to read and perhaps write or type “juice” and other words that can be combined with “juice.” The increased number of opportunities for communication using high-tech communication devices also facilitates literacy skills through interfaces with other technology. Operating systems in high-tech communication devices often include word processing, phone, and internet with e-mail and instant messaging capabilities. The child can write and communicate with others while using his specific access method to practice literacy skills in these motivating activities using a combination of video, photographs, graphics, whole words, and individual letters for spelling.

2.10 Discharge from Intervention SLPs are prepared to nurture the child’s language skills, both through direct services and through training teachers and families. Planning for discharge from formal intervention should be part of the initial assessment. The IEP team determines the criteria for discharging the child from speech-language pathology intervention through analysis of (a) the communication skills acquired by the child, (b) the level of independence the child has achieved, (c) the adequacy of training and followthrough of teachers, parents, and child for maintaining and updating the communication system as needed, (d) the ability of teachers, parents, and/or the child to determine and request a reassessment if the need is present. Discharge should be a natural evolution of a carefully planned intervention program. In most instances, when children have severe communication disorders, the parents should be prepared for the possibility that the child may need additional services in the future.

2.11 Summary For children with severe communication difficulties, AAC is a powerful outlet for celebrating the fundamental human connection that all children need to thrive. Healthcare providers are in a


unique position to help identify and support children with severe communication disorders, and this begins with helping the caregivers to access AAC services for these children. Research has consistently shown that the use of AAC strategies does not interfere with the development of speech. Further, when the child’s caregivers use AAC strategies to support language development, the outcomes improve. All children who have significant developmental delays and those who may be at risk of severe communication difficulties should have high quality interventions that are proven to enhance communication skills, and AAC strategies are in this category.

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45 ment and intervention strategies. Greenville: Super Duper. National Joint Commission for the Communication Needs of Persons with Severe Disabilities. (1992). Guidelines for meeting the communication needs of persons with severe disabilities (Guidelines). www.asha.org/ njc. Nelson, N. W. (2010). Language and literacy disorders: Infancy through adolescence. Boston: Allyn & Bacon. Parette, H. P., Huer, M. B., Brotherson, M. J. (2001). Related service personnel perceptions of team AAC decision-making across cultures. Education and Training in Mental Retardation and Developmental Disabilities, 36, 69–82. Paul, R. (2007). Language disorders from infancy through adolescence: Assessment and intervention (3rd ed., p. 11). St. Louis: Mosby. Pinborough-Zimmerman, J., Satterfield, R., Miller, J., Hossain, S., McMahon, W. (2007). Communication disorders: Prevalence and comorbid intellectual disability, autism, and emotional/behavioral disorders. American Journal of Speech-Language Pathology, 16, 359–367. Prizant, B. M., Audet, L. R., Burke, G. M., Hummel, L. J., Maher, S. R., Theadore, G. (1990). Communication disorders and emotional/behavioral disorders in children and adolescents. Journal of Speech and Hearing Disorders, 55, 179–182. Rescorla, L. (2009). Age 17 language and reading outcomes in late-talking toddlers: Support for a dimensional perspective on language delay. Journal of Speech, Language, and Hearing Research, 52, 16. Romski, M. & Sevcik, R. A. (2003). Augmented language input: Enhancing communication development. In J. Light, D. Beukelman, & J. Reichle, Communicative competence for children who use AAC: From research to effective practice (pp. 147–162). Baltimore: Brookes. Schlosser, R., & Wendt, O. (2008). Effects of augmentative and alternative communication intervention on speech production in children with autism: A systematic review. American Journal of Speech-Language Pathology, 17(3), 212–30. Schuele, C. M. (2004). The impact of developmental speech and language impairments on the acquisition of literacy skills. Mental Retardation and Developmental Disabilities Research Reviews, 10(3), 176–183. Seligman-Wine, J. (2007). Supporting families of children who use AAC. ASHA Leader, 12(10), 17–19. Sigafoos, J. (2000). Communication development and aberrant behavior in children with developmental disabilities. Education and Training in Mental Retardation and Developmental Disabilities, 35(2), 168–176. Sigafoos, J., O’Reilly, M. F., Lancioni, G. E. (2009). Functional communication training in choice-making interventions for the treatment of problem behavior in individuals with autism spectrum disorders. In P. Mirenda & T. Iacono (Eds.), Autism spectrum disorders and AAC (pp. 333–354). Baltimore: Brookes.

46 Special Education Technology-British Columbia. (2008). Literacy and AAC. Supporting people who use AAC strategies: In the home, school, & community (4th ed., pp. 35–38). Special Education TechnologyBritish Columbia: Vancouver. Van Borsel, J., & Vanryckeghem, M. (2000). Dysfluency and phonic tics in Tourette syndrome: A case report. Journal of Communication Disorders, 33, 227–240. Van Borsel, J., Moeyaert, J., Mostaert, C., Rosseel, R., van Loo, E., van Renterghem, T. (2006). Prevalence of stuttering in regular and special school populations in

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Attention-Deficit/Hyperactivity Disorder (ADHD), Perceived Competence, and Self-Worth: Evidence and Implications for Students and Practitioners Andrew J. Martin

Abstract

Perceived competence and self-worth have received extensive attention in relation to “mainstream” students. Relatively less attention has been given to perceived competence and self-worth in relation to students with special needs. The present chapter does so with specific focus on students with Attention-Deficit/Hyperactivity Disorder (ADHD), their functioning in the academic domain, and extensions of findings to students with learning disabilities more generally. The research focusing on students with ADHD identifies numerous factors underpinning their perceived academic competence and self-worth. These factors hold direct implications for strategies practitioners can use to develop more positive conceptions of self. Through genuinely addressing psycho-educational, interpersonal, and academic factors relevant to perceived competence and self-worth, there are clear intrapsychic and educational benefits to be gained by students with ADHD—and by practitioners seeking to improve their academic functioning. Addressing some, most, or all of these factors places the students with ADHD in a stronger position to achieve to their potential and feel more positive and optimistic about learning and about themselves. Abbreviations

ABA Applied Behavior Analysis ADHD Attention-Deficit/Hyperactivity Disorder BFLPE Big-Fish-Little-Pond Effect BIP Behavior Intervention Plan DSM-IV Diagnostic and Statistical Manual of Mental Disorders, Version 4 LD Learning Disability(ies) PB Personal Best PBI Personal Best Index A. J. Martin () Faculty of Education and Social Work, University of Sydney, A35 Education Building, NSW 2006, Australia e-mail: [email protected] D. Hollar (ed.), Handbook of Children with Special Health Care Needs, DOI 10.1007/978-1-4614-2335-5_3, © Springer Science+Business Media New York 2012

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3.1 Introduction Psycho-educational factors play a significant role in students’ academic, cognitive, social, and personal development (Bandura 1986, 1997; Covington 1992; Deci and Ryan 2000; Eccles 1983; Marsh 2007; Martin 2007; Pintrich 2003; Weiner 1986, 1994; Wigfield 1994). These factors include, inter alia, self-esteem, subjective competence, self-concept, and self-efficacy (Marsh 2007; Martin 2007)—collectively referred to here as “perceived competence and self-worth”. Perceived competence and self-worth have received extensive attention in relation to “mainstream” students (e.g., see Covington 1992; Marsh 2007; Martin 2007). Relatively less attention has been given to perceived competence and self-worth in relation to students with special needs. The present chapter does so with specific focus on students with Attention-Deficit/Hyperactivity Disorder (ADHD) and their functioning in the academic domain. The purposes of the present chapter are fourfold. First, it seeks to define ADHD, its alignment with other learning disabilities (LD), and findings in relation to prevalence, etiology, symptoms, and consequences. Second, it seeks to identify issues relevant to perceived competence and self-worth and implications for the academic development of students with ADHD. Third, it addresses the issues of comorbidity in the context of perceived competence and self-worth concerns. Fourth, it suggests various intervention approaches for addressing ADHD symptoms and for enhancing the perceived competence and self-worth of students with ADHD—and LD more generally. Importantly, these interventions are not only relevant to educational practitioners dealing with students with ADHD and LD, but also to medical and allied health professionals seeking to enhance the educational and other outcomes of students whose learning and achievement are adversely affected by their condition.

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3.2 ADHD, Definitions, Prevalence, Causes, and Consequences To appropriately frame the present discussion of ADHD and perceived competence and selfworth, it is first important to locate the disorder within the broader context of LD, summarize epidemiology and etiology, describe models and frameworks that have been advanced to explain the condition, and recognize various comorbidities that not only intersect ADHD symptoms but also shape various dimensions of students’ perceived competence and self-worth.

3.2.1 Learning Disabilities and ADHD Learning disabilities (LD) encompass cognitive, attentional, and behavioral deficits that hold implications for diverse aspects of children’s development (Coplin and Morgan 1988; Tabassam and Grainger 2002). These deficits considerably overlap deficits typical of ADHD (Cantwell and Baker 1991; Pisecco et al. 1996; Reason 1999; Tabassam and Grainger 2002). It is estimated that approximately one-third of students with LD have ADHD (Hallahan 1989; Robins 1992). Of particular relevance to the present discussion, relative to “mainstream” students, those with LD report significantly lower self-concept. For example, it has been suggested that approximately 81% of LD students report lower self-concepts than typically achieving students (Chapman 1988; see also Durrant et al. 1990). Thus, although the bulk of this discussion focuses on students with ADHD, there is sufficient variance in behavior, cognition, and affect shared across LD and ADHD to tentatively generalize from ADHD to LD. Supporting this proposition, data in Carmichael et al. (1997) showed that coexisting ADHD was found in 41–80% of students diagnosed with LD while McKinney et al. (1993) found co-occurrence up to 63%. Commenting on these figures, Tabassam and Grainger (2002) concluded that many students with LD also experience ADHD (p 142).

3 Attention-Deficit/Hyperactivity Disorder (ADHD), Perceived Competence …

3.2.2 Epidemiology ADHD is defined as a persistent pattern of inattention and/or hyperactivity–impulsivity that is more frequent and severe than typically observed in individuals at a comparable level of development (American Psychiatric Association, Diagnostic and Statistical Manual of Mental Disorders, Version 4 (DSM-IV) 1994, p 48). Three subtypes have been identified: predominantly hyperactive-impulsive type, predominantly inattentive type, and combined type (American Psychiatric Association 1994). There tends to be broad agreement on prevalence statistics of approximately 3–5% amongst children (Purdie et al. 2002), with approximately 50–70% of childhood ADHD cases persisting into adolescence (Barkley 1990; Barkley et al. 1990; MacLeod and Prior 1996; Mannuzza and Klein 2000; Robin 1999; Shaw-Zirt et al. 2005). Amongst adults, it is suggested that approximately 2–5% experience ADHD symptoms at a clinical level (Gaub and Carlson 1997; Sagvolden and Archer 1989; Williams et al. 1999). The factors associated with persistent patterns of ADHD through to adolescence and adulthood are discussed in the following sections.

3.2.3 Etiology Numerous causes of ADHD have been proposed. Biological factors receive the most support, with ADHD a result of biological/genetic predisposition (Barkley 1990; Hynd et al. 1991). There are also genetic/epigenetic/environmental interactions (see below). Other causes cited include parental/home factors, including parental mental health and parenting practices (Williams et al. 1999; but note that poor parenting can result from the challenges of parenting a child with ADHD, Barkley 1985), physical dysfunction, difficult birth, and adverse early life and social experiences (Williams et al. 1999). The social construction of ADHD has been suggested, with the rise in ADHD diagnoses (see Diller 1998)

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said to be due to shifts in socio-cultural values and standards of “acceptable” behavior (Marks 1999). Similarly, educational constructions of ADHD position ADHD behaviors and symptoms as a response to disengaging and unmotivating curriculum and pedagogy (Breggin 1998; Stein 1999). Other factors—though, not receiving substantial or consistent support (Barkley 1990)— include food additives, sugar overload, and nutritional deficits.

3.2.4 Models and Symptoms A widely recognized model of ADHD is the one proposed by Barkley (1997a, b) which posits behavioral inhibition as the central impairment. Barkley links the problems with behavioral inhibition to four executive neuropsychological abilities: working memory (holding information in mind, forethought, sense of time); internalization of speech (reflecting on behavior, self-questioning, self-instruction); self-regulation of affect, motivation, and arousal (self-control, perspective taking, goal-directed action); and reconstitution (accurate and efficient communication of information). Consequently, impairments in these four executive functions lead to difficulties with motor control, task-irrelevant responses, inability to execute goal-directed behavior, and problems re-engaging in tasks after being disrupted (Purdie et al. 2002). Models centering more on biology include those proposed by Hunt and colleagues. Hunt et al. (1994) proposed that ADHD is a function of disturbances in one or more of the following neurotransmitter and neurofunctional systems: Dopamine (cognition), norepinephrine (arousal), and serotonin (inhibition and reward). Other models of ADHD tend to focus more on symptoms encompassing poor attention span, decreased problem solving skills, inaccurate coding of information to working and long-term memory, low frustration tolerance, problems with organization and self-regulation (e.g., Wagner 2000), and interpersonal difficulties (Kendall 2000).

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3.2.5 Comorbidity ADHD is comorbid with other conditions and disorders. For example, relatively high levels of oppositional defiance disorder/conduct disorder are evident among students with ADHD (Ostrander et al. 2006). Higher rates and levels of depression have also been found (Angold et al. 1999; Blackman et al. 2005; Crystal et al. 2001), and the condition has been associated with relatively poorer long-term psychiatric outcomes (Ollendick and King 1994), suicide, aggression, and psychiatric hospitalization (Lewinsohn et al. 1993; Treuting and Hinshaw 2001). Interestingly, however, some research has shown that when “externalizing” items are removed from depression inventories, the depression scores of children with ADHD do not differ significantly from comparison groups (Hoza et al. 1993; see also Norvell and Towle 1986). This suggests that correlations between ADHD and depression may be spurious, at least in part. Moreover, in studies of university/college students with ADHD, there is research that has failed to find disproportionate rates of depression or psychological distress (Bertot 2002; Heiligenstein et al. 1999).

3.2.6 Effects and Consequences ADHD has effects across the spectrum of child and adolescent development (Barkley et al. 1996; Cantwell 1996; Murphy and Barkley 1996). Indeed, Barkley (1997a) points out that the neurobiological bases of ADHD creates major deficits in normal development that create a “cascade” of secondary problems throughout the individual’s executive system. However, it is the intersection with the academic domain that seems to pose most difficulties. The tasks and requirements presented to children and young people at school require the very functions that ADHD seems to most impair. Accordingly, research demonstrates poor performance in mental arithmetic (Mariani and Barkley 1997; Pennington and Ozonoff 1996), elevated rates of dyslexia (Harpin 2005), academic motivation deficits (Oosterlaan and Sergeant 1998),

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underachievement (Heiligenstein and Keeling 1995), misbehavior (Fergusson et al. 1996), and significantly lower grade point average (Heiligenstein et al. 1999). In nonacademic domains and in some cases, across the lifespan, ADHD is associated with poor peer relations (Barkley 1998; Harpin 2005; Hinshaw 1994), poorer quality of life (Greenwald-Mayes 2002), delinquency (Krueger and Kendall 2001), lower occupational rank and psycho-social adjustment (Slomkowski et al. 1995). However, children with ADHD who are free of hyperactivity in adolescence tend to display few academic and social difficulties and do not demonstrate deviant adjustment patterns (Mannuzza et al. 1988).

3.3 ADHD, Perceived Competence, and Self-Worth In the context of these chronic and acute academic and other difficulties, there is a need to consider the psycho-educational factors that intersect ADHD. Across a vast body of literature, psycho-educational factors are shown to play a central role in students’ academic development (e.g., see Marsh 2007; Pintrich 2003; Schunk and Miller 2002). As foreshadowed at the beginning of the chapter, the psycho-educational factors under focus here are self-esteem, subjective competence, self-concept, and self-efficacy (Marsh 2007; Martin 2007)—collectively referred to as perceived competence and self-worth. Indeed, Kewley’s (1999; see also Harpin 2005) model detailing the stages of ADHD has children’s selfconceptions as a foundational stage of development.

3.3.1 Difficulties Assessing Perceived Competence and Self-Worth Before examining perceived competence and self-worth in students with ADHD, it is appropriate to recognize some of the difficulties researchers have reported in collecting data on self-conceptions of children with ADHD. Over the past


two decades, there have been concerns about the reliability and validity of self-report data collected from children and young people with ADHD (Landau et al. 1991). For example, some research has suggested low agreement between self-report and behavior ratings of ADHD symptoms (Loeber et al. 1991; however, other work suggests self-reports are more accurate when children are medicated; Milich et al. 1989). It is also the case that because the overt behavior of ADHD is so readily observable and usually of central interest, there has not been such an interest in self-report data (Hoza et al. 1993). Hence, the following discussion of perceived competence and self-worth must be considered against the relatively limited work into the phenomena.

3.3.2 Models of Perceived Competence and Self-Worth in the Context of ADHD Some researchers have outlined processes and dynamics relevant to perceived competence and ADHD. Pisecco et al. (2001) have described how children’s early school experiences create a foundation for their perceptions of academic competence that then shapes their academic development. Cast in this light, the academic difficulties experienced by students with ADHD adversely affect their academic self-conceptions. In similar vein, Chapman (1988) outlined a self-perpetuating cycle such that students with negative selfconceptions view future academic achievement as unlikely and give up quickly on difficult academic tasks. This sets in train a helpless pattern of perceived competence and academic efficacy. Krueger and Kendell (2001) further suggest that the challenging behaviors and orientations exhibited by students with ADHD render it difficult for even tolerant parents and teachers to respond in positive and accepting ways. This negative interpersonal reciprocity adversely affects the development of the child’s emerging self. Others have articulated developmental perspectives on perceived competence. Vital to these developmental models is the fact that ADHD emerges at a time when conceptions of self are

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crystallizing (Harter 1993). In the early stages of school, the conceptions of self tend to be unidimensional and transient (Cicchetti and Toth 1995; Harter 1982). At about 8 years, the children begin to attribute success and failure to personal characteristics, and their sense of competence begins to be linked more specifically (rather than diffusely) to interactions with their environment (Dweck and Leggett 1988; Harter and Whitesell 1989). It is also at this stage that ADHD symptoms and effects become more salient and with attributions of poor academic outcomes to self, perceived competence begins to suffer. From here, children’s self-conceptions become more stable and global (Harter 1999) and they become increasingly aware of how they compare with others (Dumas and Pelletier 1999; Dweck and Leggett 1988). Also at this stage, children’s self-conceptions become more aligned with how others are oriented to them (Eccles et al. 1993). Taken together, as others become negatively oriented to poor academic performance and problematic behavior and as children with ADHD become increasingly aware of their academic standing relative to others, it is not surprising that they develop negative appraisals of self. Motivational models of ADHD have also been advanced. Douglas (1983, 1985), for example, suggests that students with ADHD experience more task-relevant frustration and do not exert the effort required for completion of difficult tasks (see also Milich and Greenwell 1991; Milich and Okazaki 1991). In abandoning tasks sooner than other students, they solve fewer problems, and thus progressively cut themselves off from possible academic success. Limited access to success provides an insufficient basis for the development of perceived competence and self-worth (Martin 2007). Explanations of perceived competence couched in terms of identity formation and stigmatization offer another perspective on the developing self and ADHD. Research by Krueger and Kendall (2001) found that students with ADHD described themselves in terms of their ADHD symptoms and tended not to hold a sense of identity distinct from the disorder. They did not see ADHD as a disability that was the cause

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of many academic (and other) difficulties. Rather, they saw symptoms and difficulties as part of their core self. Interestingly, Krueger and Kendall found that students would defend their ADHD symptoms as though they were defending aspects of their core being. According to Kruger and Kendell, this underscores the importance of understanding and addressing perceived competence and self-worth in children and adolescents with ADHD.

3.3.3 ADHD and Levels of Perceived Competence and Self-Worth— the “Intuitive” Findings In the context of these models, it might reasonably be predicted that children and young people with ADHD will evince lower levels of perceived competence and self-worth. As intuitive as this prediction may appear, the evidence is somewhat mixed (Edbom et al. 2008). Here, the “intuitive” findings are discussed. Further below, somewhat counter-intuitive findings are discussed, along with a rationale to explain the conflicting results. Tabassam and Grainger (2002) found students with ADHD reported markedly lower academic self-concept and academic self-efficacy compared with peers achieving at typical levels. Similarly, Dumas and Pelletier (1999) found that children with ADHD evinced lower levels of perceived scholastic competence. Further down the track, it has been found that university/college students with ADHD symptoms demonstrate poorer functioning in respect to college adjustment (Shaw-Zirt et al. 2005). Evidence also suggests deficits in perceived competence in nonacademic (e.g., perceived social competence) and general self (e.g., self-esteem) domains. For example, Ostrander and colleagues (Ostrander et al. 2006) found that children with ADHD presented with lower perceived social competence—as has also been found with university/college students with ADHD symptoms (Shaw-Zirt et al. 2005). Edbom and colleagues found that children with high scores on ADHD symptoms also reflected low score profiles on general self-esteem factors (Edbom et al.

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2008). Similarly, lower self-esteem is reported by adolescents who had been diagnosed with ADHD in childhood (Slomkowski et al. 1995)—a finding consistent with Treuting and Hinshaw (2001). Indeed, Dooling-Litfin and Rosen (1997) found that university/college students who had been labeled ADHD in childhood reported lower selfesteem as university/college students (see also Hechtman et al. 1980). However, counter to this, others have found that lower levels of perceived competence tend to be restricted to the academic domain and not the nonacademic domain (Chapman 1988; Harter et al. 1998). In considering these generally negative effects of ADHD on various indicators of perceived competence, Weiss and Hechtman (1986) concluded that the actual symptoms of ADHD are less problematic than the psycho-social problems in childhood and adolescence resulting from the ADHD symptoms.

3.3.4 ADHD, Comorbidity, and Perceived Competence, and Self-worth It is evident that perceived competence and selfworth vary not only as a direct function of ADHD (and its symptoms) but also as a function of comorbidity. Research suggests different patterns of comorbidity are linked with different patterns of self-conceptions (Hoza et al. 2004). Similarly, across various ADHD comorbidity profiles, children with ADHD who also have internalizing symptoms are found to be lower in self-esteem (Bussing et al. 2000). Others have found that approximately half the variance shared between ADHD and depression is mediated by perceived competence (Ostrander et al. 2006). Related to this is work finding a similar mediating role for self-esteem between ADHD and substance abuse and deviant peer choice (Emery et al. 1993; Gordon and Caltabiano 1996; Moore et al. 1996). In fact, Hoza et al. (2004) suggest that one reason ADHD is not directly linked to lowered selfesteem is because depressive symptoms are confounding findings; after controlling for depressive symptoms, self-esteem differences are not


so evident (see also Hoza et al. 1993). Contrary to these general findings, however, is work finding no difference in self-esteem as a function of psychopathology (Slomkowski et al. 1995).

3.3.5 ADHD and Levels of Perceived Competence and Self-worth— the “Counter-Intuitive” Findings As noted above, counter to the somewhat expected connection between ADHD and lower levels of perceived competence are findings suggesting that perceived competence is not significantly different from that found in the nonclinical population—and that in some studies, perceived competence amongst students with ADHD may in fact be elevated. This latter pattern of effects is referred to as “positive illusion”. Hoza et al. (2002; see also Edens 1999; Gresham et al. 2000; Hoza et al. 2004) have suggested that perceived competence is most appropriately determined by assessing against external criteria that index actual competence. In doing so, it is then possible to assess whether students with ADHD are under- or over-rating themselves relative to objective criteria. Simply comparing their absolute levels of perceived competence against nonclinical populations or with no regard for the criteria on which they rate themselves is relatively meaningless. Essentially, then, it is the accuracy of their perceived competence that is, the critical issue. Applying this approach to assessing perceived competence, Hoza et al. (2004) found that children with ADHD were more likely than comparison children to overrate their competence relative to an adult (e.g., teacher, parent) report. More strikingly, these children made the greatest overestimations of competence in their areas of greatest deficit (see also Hoza et al. 1993, 2002). Of pertinence to the present discussion, lowachieving students with ADHD were most likely to inflate their estimates in the academic domain (Hoza et al. 2002). This led Hoza et al. (2002, 2004) to consider “positive illusion” as an explanation for these inflated self-estimates and that this positive illusion

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served a self-protective function to help students with ADHD cope with their deficits. This follows from Taylor and Brown’s (1988) thesis that overly positive self-appraisals are characteristic of normal human thought and can be adaptive under circumstances of adversity. According to Taylor and Brown, positive illusion may assist individuals to persist after failure and setback. In this context, positive illusion may be considered an adaptive defensive mechanism for students with ADHD who are faced with academic setback and failure and must find a way to cope through these events (Hoza et al. 2004; but see Ohan and Johnston 2002, who found no such selfprotection in the academic domain). According to Hoza et al. (1993), accurate self-perceptions may be too distressing and debilitating for these students and overestimations are an effective means of ego-protection. Hoza and colleagues recommended further work investigating the consequences of positive illusion amongst children with ADHD. Also in need of further work is the issue of whether overestimations actually serve an ego-protective function. Indeed, work along these lines is also important because some researchers have not found evidence of positive illusion amongst children with ADHD (Slomkowski et al. 1995), whilst others have argued for the importance of accurate self-perceptions for healthy human development and functioning (Colvin et al. 1995).

3.4 Treatment and Intervention for ADHD Symptoms In this section, the issue of treatment and intervention for ADHD symptoms is addressed. In the more detailed section to follow, the issue of treatment as relevant to perceived competence and self-worth is addressed. Treatment and intervention generally take the following forms: pharmacological, behavioral, cognitive-behavioral, parental, educational and classroom, allied health-related, and combined/multi-modal. In the case of perceived competence and self-worth, the psycho-educational intervention is also emphasized.

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3.4.1 Pharmacological Intervention Pharmacological intervention (typically in the form of stimulants) is the most common form of intervention (Barkley 1990; Purdie et al. 2002) with substantial increases in medication rates over the past three decades (Barkley 1990; Bennett et al. 1999; Hoagwood et al. 2000; Pelham and Hoza 1987; Purdie et al. 2002; Rapport et al. 1993; Swanson et al. 1993). Whilst being an effective frontline approach to symptom management, there are not such direct gains in academic performance—underscoring the need to also intervene on other fronts (e.g., educational, see Sect. 3.4.3). Indeed, there is concern that an overreliance on pharmacological intervention delays the implementation of needed nonpharmacological intervention (Purdie et al. 2002; Swanson et al. 1993) and the issue of medication continues to be debated (Breggin 1999; DeGrandpre 2000; Diller 1998; Mayes et al. 2009; Purdie et al. 2002). More recently, research has focused on intervention that can take place alongside pharmacological approaches. For example, work into cognitive training and ADHD seeking to improve executive functioning (e.g., working memory) has suggested that cognitive training can augment pharmacological intervention and that both intervention approaches do better than either one alone (Holmes et al. 2009); specifically, medication was found to improve visual-spatial memory while cognitive training evinced gains in working memory (but neither assisted IQ). More recent research has explored “organic” or “natural” supplements, with recent interest in the merits of fatty acids. Early findings have been somewhat encouraging (Richardson and Montgomery 2005; Sinn and Bryan 2007), but further research is warranted to establish the consistency of these and other potentially beneficial effects.

3.4.2 Behavioral, Cognitive, and Cognitive-Behavioral Intervention Behavioral, cognitive, and cognitive-behavioral interventions are also common. Behavioral inter-

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vention emphasizes positive reinforcement and negative reinforcement to promote and reduce desirable and undesirable behavior respectively (Damico and Armstrong 1996). Reviews of behavioral treatments suggest they can be effective in promoting behavior important for classroom learning (Fiore et al. 1993). Cognitive intervention includes approaches such as cognitive and brain training exercises that target aspects of executive functioning. As indicated above, research suggests that cognitive training can augment pharmacological intervention and that both intervention approaches do better than either one alone (Holmes et al. 2009). Cognitive-behavioral intervention addresses self-talk, self-instruction, and self-monitoring in the course of learning and problem solving. These are developed with a view to enhancing self-control and control over impulsive behavior. Cognitive-behavioral intervention has been found to yield short-term benefits but there has been some difficulty generalizing the efficacy of acquired cognitive-behavioral strategies across different settings (Ervin et al. 1996; Purdie et al. 2002).

3.4.3 Educational and Classroom Intervention Educational and classroom intervention addresses deficient academic skills (e.g., literacy, numeracy), classroom structure (e.g., seating, noise levels, visual distractions), and effective use of time (e.g., breaks between tasks, extending the time allowed on tasks and tests). Other educational accommodations include decreased academic workload, individualized/differentiated instruction, daily planners, reading tests aloud, and using scribes during tests—all aimed at cultivating more facilitating academic conditions that optimize opportunities to achieve to potential (Frame et al. 2003). At a classroom level, intervention involves consistent and predictable daily and lesson routines, a classroom relatively uncluttered and orderly, clear and concise instructions and requirements that do not tax working memory, monitoring progress and comprehension rather than waiting for requests


for assistance, proactive discipline (anticipating problems) rather than reactive discipline (reacting to problems), and logical and measured consequences (Charles 2005; Lougy et al. 2007). Although educational and classroom intervention is effective, relatively few studies include academic outcome measures (DuPaul and Eckert 1997) and so more research is needed here.

3.4.4 Parental (Home-based) Intervention Parental intervention typically involves promoting or enhancing parenting skills, often through parent training programs. Skills under focus predominantly involve those that can bring about behavior change in the child. Findings suggest parent training programs can be effective in improving parenting skills and child compliance (Anastopoulos et al. 1991; Pisterman et al. 1989; Purdie et al. 2002). Other work has found that stable psychological status of the family and a nurturing and supportive family environment can lead to more positive adolescent outcomes following ADHD in childhood (Barkley 1990; Cantwell and Baker 1988; Krueger and Kendall 2001).

3.4.5 Allied Health Intervention Allied health interventions focus on promoting healthy lifestyles and habits that individually and cumulatively seek to assist in managing ADHD symptoms. These include fostering healthy sleep routines, nutrition, achieving optimal weight, adherence to medication plans, and exercise and physical activity (Brunette 1995; Frame et al. 2003). There tends to be less research into these factors (Frame et al. 2003) and what research has been conducted tends to yield mixed results (Purdie et al. 2002). Notwithstanding this, it is reasonable to posit that health-related intervention can establish facilitative conditions that enhance the efficacy of other interventions that have a broader evidence base.

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3.4.6 Combined/Multi-Modal Intervention Combined/multi-modal intervention involves more than one of the aforementioned intervention approaches—typically comprising stimulant medication plus one or more of behavioral, cognitive-behavioral, parental, educational, and allied health-related intervention. Ervin et al. (1996) report that combined intervention is likely to lead to better outcomes—however, others report that combined treatment is not markedly better than stimulant intervention alone (Abikoff and Gittelman 1985).

3.4.7 Summary of Interventions and Treatments for ADHD Symptoms A useful summary of ADHD interventions is that provided by the meta-analytic work of Purdie et al. (2002) who considered all forms of intervention against ADHD symptoms and various academic and nonacademic outcomes. In terms of ADHD symptoms (hyperactivity, inattention, impulsivity), and in rank order, pharmacological intervention was generally the most effective, followed by nonacademic intervention (e.g., behavioral, social skills training) for hyperactivity. In terms of domain-specific outcomes (behavioral, social, cognitive, personal/ emotional), and in rank order, pharmacological (followed by combined/multimodal) intervention was the most effective for behavioral outcomes; combined/multi-modal (followed by pharmacological) intervention was the most effective for social outcomes; academic (followed by pharmacological) intervention was the most effective for cognitive outcomes; and, all five (pharmacological, academic, nonacademic, parental, and combined/multi-modal) interventions were generally equally effective for personal/emotional (e.g., self-esteem) outcomes. Table 3.1 also presents a summary of major findings and synthesizes key points in the above discussion.

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Table 3.1 Summary of intervention for ADHD symptoms and self-worth Target Intervention Examples ADHD Symptoms Pharmacological Stimulant medication; “organic” substances; for example, fatty acids Allied health Diet; exercise; sleep Behavioral Consequences; behavior plans Cognitive Cognitive or “brain” training Cognitive-behavioral Self-talk; self-control; self-monitoring Educational Tutoring in school subjects; literacy and numeracy instruction; extra time for tasks, decreased workload Classroom Seating; organized environment; clear and consistent rules and instructions; proactive discipline Parental (home) Parenting skills training; supportive home and family Combined/ Various combinations of two or more of above Multi-modal Self-worth and PerConstructive Adjusting rules; logistic accommodations; fair more than equal; ceived Competence philosophy importance of interpersonal relationships; respect Fear of failure Mistakes as diagnostic feedback to improve; self-worth not tied to academic performance Constructive orienta- Effort leads to improvement (does not reflect on ability); quality of tion to effort effort may need priority at times Competition Focus on task at hand more than on comparative performance Personal Bests (PBs) Strive toward own standard of excellence; Personal Best Index (PBI) Implicit theories Competence and skill can be developed Balance between Set work that is, a touch ahead of where student is at (do not “dumb challenge and skill down” work; do not assign work excessively advanced for student’s current level) Attribution retraining Emphasize effort (how hard student tries), strategy (the way student and control tries), and attitude (how student thinks about school, schoolwork, and self) in academic life Behavioral principles Applied behavior analysis (ABA); behavior intervention plans (BIP) Academic resilience Skills and resources needed to deal with everyday academic and buoyancy challenges (buoyancy) and more significant academic adversity (resilience) Adaptability Regulating behavior, cognition, and affect in response to new, changing, or uncertain circumstances Connective Interpersonal (teacher-student relationship), substantive (student conInstruction nection to subject matter), and pedagogical (student connection to how subject matter taught) connections in class

3.5 Treatment of ADHD as Relevant to Perceived Competence and Self-Worth Of particular interest in this discussion is the role of intervention in enhancing perceived competence and self-worth for children and young people with ADHD. As with intervention and treatment for ADHD symptoms, the interventions targeting perceived competence and self-worth range from pharmacological through to cognitive-behavioral and educational. Additionally,

as indicated earlier, intervention for perceived competence and self-worth also involves psychoeducational approaches. In this discussion, the focus is on two intervention approaches: pharmacological (because this is the most common form of intervention for ADHD) and psychoeducational (because this is the domain in which perceived competence and self-worth are directly located). Alongside efforts to address perceived competence and self-worth, Bussing et al. (2000) recommended that intervention also be aimed at raising a child’s level of functioning. In line with


this advice, the interventions described below are aimed at addressing, developing, and sustaining children’s perceived competence and self-worth directly or by way of enhanced academic functioning.

3.5.1 Pharmacological Intervention and Perceived Competence and Self-worth To the extent that ADHD symptoms create academic difficulties that negatively impact perceived competence and self-worth, it follows that pharmacology shown to minimize these symptoms (Greenhill and Osman 1999; Klein and Wander 1995; Swanson et al. 1995) may also assist perceived competence and self-worth. Indeed, there is research to support this contention. Medication of children and young people with ADHD has been associated with positive shifts in self-acceptance (Cohen and Thompson 1982). Other work comparing medicated and nonmedicated children with ADHD demonstrated higher levels of self-esteem in the former group (Alston and Romney 1992; Frankel et al. 1996; Hechtman et al. 1984). Similar work found children on stimulants reported feeling more intelligent and more popular than children not receiving medication (Frankel et al. 1999). More nuanced research has found moderating factors differentially affect the link between medication and perceived competence. For example, improvements in selfesteem have been found for long-term treatment compared to short-term treatment (Kelly et al. 1989). Additionally, Frankel et al. (1999) found a positive correlation between dosage and selfesteem. Frankel et al. (1999) discussed two possible explanations for the significant effects of medication on perceived competence and self-worth. The first is that domain-relevant behavior is under greater control (Whalen et al. 1981); this control leads to improved functioning and improved interactions with others (Whalen et al. 1991). Together, these have the effect of elevating a child’s perceived competence and self-

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worth. The second explanation is that medication allows for improved internal control and internal sensation. Because measures of self-esteem assess how one feels, higher levels of self-esteem would be expected in medicated samples compared to unmedicated samples. In some support of this notion is the positive correlation between dosage and self-esteem (Frankel et al. 1999). Notably, however, other research into the effects of medication is more equivocal. For example, although Bussing et al. (2000) did not find reduced self-esteem associated with medication—at the same time, they did not find elevated levels. Also, whereas DuPaul and colleagues found low medication doses associated with improved behavioral self-concept, most children showed no overall change in self-concept (DuPaul et al. 1996).

3.5.2 Psycho-Educational Intervention for Perceived Competence and Self-Worth Researchers and theorists centrally locate perceived competence and self-worth within the psycho-educational domain (Covington 1992; Marsh 2007; Pintrich 2003; Schunk and Miller 2002). It follows, then, that efforts aimed at addressing students’ perceived competence and self-worth must appropriately emphasize psychoeducational intervention approaches (Martin 2005, 2008a, b; O’Mara et al. 2006). Here, the intervention relevant to psycho-educational processes and constructs encompasses: constructive philosophy towards and about ADHD; effectively dealing with fear of failure and competition; constructive orientations toward effort; harnessing personal bests (PBs); developing adaptive implicit theories; attaining an appropriate balance between task challenge and student skill; attribution retraining; effective application of behavioral principles; academic resilience and academic buoyancy; academic adaptability; and quality interpersonal relationships. Each of these is discussed in turn.

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3.5.2.1 A Constructive Philosophy Towards and About ADHD It has been suggested that the success (or otherwise) of strategies aimed at assisting students with ADHD is underpinned by one’s philosophy toward and about ADHD and students with ADHD. For this reason, a constructive philosophy is the first of the intervention strategies raised here. The reality is that students with ADHD are not always easy to manage and without a core constructive orientation toward the condition and students with it, the intervention is unlikely to be optimally effective and coercive cycles of relationships may well arise (Lougy et al. 2007; see also Charles 2005). According to Lougy and colleagues, a constructive philosophy toward ADHD encompasses the following: (a) for some students, there is a need to modify rules and make logistic adjustments, (b) different situations may need different rules and expectations for different students, (c) making things fair is more important than making things equal, because different students have different needs, (d) the squeaky wheel does need the oil, (e) an early intervention and action approach is more effective than a wait-to-fail approach, (f) this condition does not define the student or his/her worth, nor does it need to be predictive of future life effectiveness, (g) through some common sense and minor accommodations (e.g., more desk space, more time, more structure and clarity, and front-and-center seating), classroom life can be much improved, (h) the condition will not get in the way of a good interpersonal relationship between teacher and student, and (i) respect for the teacher is earned through the teacher showing respect for the student. 3.5.2.2 Effectively Dealing with Fear of Failure In many academic settings, students’ self-worth is very much a function of their ability to achieve (Covington 1992). Accordingly, as the likelihood of poor performance increases (as is often the case for students with ADHD in their passage through school; Harpin 2005; Heiligenstein et al. 1999; Heiligenstein and Keeling 1995; Mariani and Barkley 1997; Pennington and Ozonoff

A. J. Martin

1996), so too does the potential threat to the student’s self-worth (Covington 1992; Martin and Marsh 2003). Such conditions lay a foundation for a fear of failure (Martin and Marsh 2003) and in response to this fear, the students come to maneuver in maladaptive ways to protect their selfworth (Martin et al. 2001a, b, 2003). Martin (2005) proposes two ways to address students’ fear of failure. The first relates to how mistakes, poor performance, and failure are dealt with in the classroom. Fear of failure tends to be low or nonexistent in contexts where students view mistakes as important diagnostic information about how to improve next time (Covington 1998). In being oriented to mistakes in this way, they tend not to see mistakes as reflecting on them as a person (Martin 2001, 2002a, b, 2003; Martin and Marsh 2003). Fear of failure can also be tackled by reducing the link between students’ achievement and their worth as a person (Covington 1992, 1997; Martin 2001, 2002a, b, 2003; Martin et al. 2001a, b, 2003; Thompson 1994). One way to do this is to emphasize effort, strategy, and attitude in students’ academic lives whilst reducing the emphasis on performance outcomes themselves. Ongoing interactions regarding academic performance can emphasize effort, strategy, and attitude as the key elements and not so much levels of ability. Thus, positive performance outcomes are interpreted in terms of sufficient effort, attitude, and strategy—and negative performance outcomes are seen in terms of insufficient effort, strategy, and attitude. In this way, the link between ability and performance outcomes is diminished—and by implication, so too is the threat to self-worth. Hence, the more educators’ reactions to student achievement are confined to student behavior, strategy, and effort (and not their ability or their person), the less the students will feel their worth is under threat.

3.5.2.3 Constructive Orientations to Effort Related to this, research and theory have suggested that how hard a student tries can hold implications for their sense of intelligence. Hence, the application of effort can be seen by


some students as a dangerous practice because it can imply (in their minds) that they lack ability. Research has shown that students who fail with relatively less effort are viewed by other students as more competent than failing students who invest relatively more effort (Covington 1992, 1998). This raises a difficult bind because the teachers value expenditure of effort but students see it as a potential threat to their ability and consequent worth (Covington and Omelich 1979). This double-edged dimension of effort holds implications for intervention. Simply asking a student to try harder may be threatening and lead them to conclude that they lack ability. Moreover, if the student performs poorly after expending effort, it can further erode their perceived competence and self-worth. Instead, focusing intervention on the quality of effort more than the quantity of effort can be a way of assisting students who view effort expenditure as an ego-threatening practice (Covington 1998; McNabb 1991); students are less inclined to see that the quality of their effort reflects on their ability (McNabb 1991). Thus, in the early stages of reengaging underachieving students, focusing on the quality of effort may be preferable—with a view to elevating both quality and quantity of effort as perceived competence and self-worth find surer footing.

3.5.2.4 Dealing More Effectively with Competition Competition is another factor that can exacerbate problematic constructions of effort and motivation. Competition, particularly for underachieving students (such as those with ADHD), is often feared (Martin and Marsh 2003). Covington (1992) described competition as a zerosum game: for some students to “win”, the others must “lose”. As discussed above, “losing” can reflect poorly on a student’s core identity and sense of worth (Covington 1992). This touches on a phenomenon referred to as the Big-FishLittle-Pond Effect (BFLPE) in which lower performing students in environments reflecting higher aggregate performance levels (e.g., a low performing student in a high performing class or school) can experience a decline in academic

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self-concept (Marsh et al. 2008). Through a social comparison process, they deem themselves inadequate compared to higher performing students in the same class or school (Marsh et al. 2006). By implication, the students with ADHD performing at a lower level than other students in the class may experience declines in academic self-concept (importantly, high performing students in academically-selective schools/classes can also experience a decline in self-concept). However, because competition is a major pillar of most schools and school systems, it is essential that students learn to effectively cope under competitive regimes that will inevitably comprise some students of a higher level of academic performance. Research suggests that students can cope better in competitive systems through a greater focus on the task and activity at hand (and not on how one is competing on the task or activity), reducing students’ tendency to compare themselves with others, and more personalized standards and benchmarks for excellence. Collectively, these bring into consideration recent promising work into PBs.

3.5.2.5 Harnessing Personal Bests (PBs) A PB approach to learning involves a student aiming to do as well or better than their previous best. This can be in terms of a mark or it may be a PB in the way they do things, such as being more organized for a major assignment. Martin (2006b) identified academic PBs as a potentially effective means of enhancing students’ academic trajectories and longer term outcomes—and subsequent work has confirmed this for students with ADHD (Martin 2012b). A four-factor PB model—comprising goals that are specific, challenging, competitively self-referenced, and selfimprovement focused—has been empirically validated (Martin 2006b). Martin also recommended use of a PB Index (PBI) when reporting to students and parents. Typically, the primary quantification of students’ performance at school in a given term or year is through their relative grading and/or ranking. That is, their grade in Math, for example, often is determined relative to other students’ performance in that subject. A sole focus on relative grading

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immediately confines “success” to a handful and relegates relatively lower performances or “failure” to many, and it is through this process that school becomes a constant sifting of “winners” and “losers”—and when a student decides that he or she is one of the “losers”, numerous problematic motivation dynamics can take hold. Students with ADHD are considered part of this problematic motivational terrain (Martin 2012b). The PBI is a personalized measure and because of this, it is possible for a student who had never scored high in relative terms to receive a high PBI if he or she performed better, was more engaged in the subject, or more skillful than previously. In sum, not everyone can be given an “A” in a relative grading system, but everyone can strive for an “A” in their PBI. Particularly for underachieving students such as those with ADHD and other LD, this is vital for a sense of academic hope and optimism (Martin 2012b). In Appendix is a sample PBI score sheet the educators can use to quantify a student’s personal progress on a number of key dimensions relevant to academic outcomes.

3.5.2.6 Adjusting Students’ Implicit Theories Implicit theories refer to the beliefs the students hold about the nature of intelligence. These implicit theories can impact perceived competence and self-worth. Students can see intelligence as something that is fixed or something that is incremental (Dweck 1991). To the extent that students with ADHD see their intelligence as something that is fixed they will feel incompetent in the face of academic challenge and relative to their peers. To the extent that they see intelligence as something that can be improved upon, they will engage more meaningfully with academic challenge and persist in the face of difficulty (Dweck 1991). Intervention, then, is directed at promoting an incremental view of intelligence. To foster incremental views of intelligence, it is important to communicate to students that intelligence can be developed further. This proposition is best tested when students are encouraged to seek out tasks and activities that are challenging but achievable—through this, they develop the skills

A. J. Martin

needed to meet these challenges. When they meet these challenges successfully and there is evidence of skill development, it is then important for them to reflect on the lesson learnt—namely, that intelligence can be developed (McNabb 1991). In the process, their level of perceived competence is also facilitated (Martin 2005).

3.5.2.7 Attaining an Appropriate Balance Between Challenge and Skill Careful calibration of task challenge and student skill is another way to reduce the frequency of poor performance, maximize opportunities for success, and foster adaptive levels of perceived competence and self-worth. It has been found that students are optimally engaged in tasks when their level of skill appropriately matches the task challenge. In early work, Vygotsky (1978) defined this as the “zone of proximal development”. More recently, Csikszentmihalyi (1982, 1985, 1990; Jackson and Csikszentmihalyi 1999) described this as “flow”. Where students’ skill level exceeds the task challenge, they feel relaxed at first but soon become bored and disengaged. When the level of challenge markedly exceeds students’ skill, they feel anxious. When students’ skill is low and the challenge is low, they are apathetic. It is the latter two that are particularly relevant to students with ADHD in that (a) tasks overly exceeding the level of skill create fear and anxiety and (b) tasks “dumbed-down” that ultimately drive down a student’s skill, result in meaningless academic engagement, disempowerment, and apathy. As the framework suggests, it is fundamental that these students are presented with challenges that are appropriately matched to their skill—ideally, a touch beyond their current level of skill (Jackson and Csikszentmihalyi 1999). As described above, PBs are an effective way of directly doing this. Essentially, PBs attain the optimal balance between challenge and skill needed to extend the student whilst also maximizing their potential for academic success. Under these conditions, perceived competence, based on genuine advancement, is potentiated.


3.5.2.8 Attribution Retraining and Enhancing Control Attribution retraining is another means of effectively addressing perceived competence and selfworth. Attributions refer to the causes to which individuals attribute success and failure (Weiner 1994). Of relevance to the present discussion, causes of success and failure can be seen as internal (e.g., effort) or external (e.g., luck). Thus, students may attribute poor performance to a lack of effort or bad luck. Research suggests that the attributions students make to success and failure holds implications for their motivation and perceived competence (Weiner 1994). Interestingly, attribution research amongst students with ADHD has assessed not only “traditional” academic factors such as effort, but also these students’ attributions to medication. Each of these is briefly discussed. Attribution research focusing on medication has explored the extent to which children with ADHD attribute academic outcomes to their medication. Some results suggest that children with ADHD choose medication least often (from the available options suggested to them) as an explanation of general success on tasks (Milich et al. 1989; Pelham et al. 1992). In similar vein, Ialongo et al. (1994) found little evidence that medication resulted in a change in children’s general attributional style (Ialongo et al. 1994). However, other results from Treuting and Hinshaw (2001) suggest that children tend to attribute positive ADHD-related outcomes to medication and poor ADHD-related outcomes to a lack of medication. Based on mixed findings such as these, it has been recommended that children be informed that medication will help functioning but is not the only factor determining success— just as a lack of medication does not guarantee a negative outcome (Levine 1990; Treuting and Hinshaw 2001). Importantly, of potentially greater importance in Treuting and Hinshaw’s (2001) study was the fact that the attributions to effort were associated with greater self-esteem. This supports seminal theorizing by Diener and Dweck (1978) who emphasized personal control as a vital aspect of

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healthy human functioning. According to Diener and Dweck, when individuals attribute outcomes to, for example, a lack of effort (rather than a lack of ability), they are likely to be persistent and motivated in the face of poor performance and setback (see also Dweck and Leggett 1988). Based on the Treuting and Hinshaw findings, the interventions for ADHD that encourage students to focus on the controllable elements of their academic life are likely to lead to greater perceived competence and self-worth. Similarly, Stein (1999; see also Frame et al. 2003) suggests that assisting preadolescents to a sense of greater personal empowerment can decrease negative outcomes such as poor self-esteem. Also, it has been suggested that framing ADHD as (at least in part) a developmental disorder may have implications for personal empowerment; specifically, implying that personal control and adaptive functioning will occur, but at a later stage relative to age peers, may provide a sense of hope and optimism that would otherwise be absent (Krueger and Kendell 2001).

3.5.2.9 Effective Application of Behavioral Principles Particularly for students with ADHD, applied behavior analysis (ABA) principles and positive behavior interventions are relevant (Conroy et al. 2005). Predominantly based on the principles of operant conditioning (Skinner 1974), the aim of ABA is to influence current and future behavior through systematic application of consequences. The implementation of positive consequences (positive reinforcement) renders target behavior more likely and the withholding or removal of positive consequences (negative reinforcement) renders target behavior less likely. According to ABA, the future likelihood of a behavior is determined by its past consequences. Behavior intervention plans (BIPs; Gable et al. 1998) can be established that clearly define the behavior targeted for change, a description of the short-term behavior change goal, a description of the longterm behavior change goal, a description of how the behavior is to be assessed and monitored, a clear listing of consequences tied to specific as-

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pects of behavior, and an explanation of the roles that relevant parties (e.g., student, teacher, school psychologist, parents) will play in the BIP. In many cases, this plan will be very specific and immediate, addressing and shaping behaviors and responses at a relatively micro level (e.g., on a daily, hourly, or half-hourly basis). Behavioral approaches and consequences such as these can be particularly effective for children with ADHD in enhancing their persistence on effortful tasks (Carlson et al. 2000; Milich and Okazaki 1991).

3.5.2.10 Promoting Academic Resilience and Academic Buoyancy In the face of chronic academic adversity over the course of many school years, a good degree of resilience will be required to remain engaged and maintain a sense of worth and competence. Resilience is typically defined as the capacity to overcome acute and chronic adversities that are seen as major assaults on the developmental processes (e.g., see Garmezy 1981; Lindstroem 2001; Luthar 2003; Luthar and Cicchetti 2000; Masten 2001; Werner 2000)—concepts that quite readily apply to the challenges and difficulties facing students with ADHD in the academic domain and the need to effectively cope with these challenges in the academic domain (referred to as “academic resilience”). Consistent with Martin and Marsh (2006, 2008a, b, 2009), it is proposed that in addition to dealing with chronic and acute adversities (via academic resilience), it is also important to deal with setbacks, challenges, and pressures that are part of everyday academic life. These everyday challenges, Martin and Marsh contend, reflect a need for “academic buoyancy” that is, relevant to the many ups and downs of everyday school life. Indeed, work just completed has found academic buoyancy to yield positive engagement effects for students with ADHD (Martin 2012a). Work by Martin and Marsh (2006) examined the links between academic buoyancy and a diverse range of motivation dimensions. A number of motivational factors were identified as being significantly associated with students’ academic buoyancy. These were referred to as the “5Cs” of

A. J. Martin

academic buoyancy: confidence (operationalized by way of academic self-efficacy), coordination (academic planning), commitment (academic persistence), composure (low academic anxiety), and control (perceived control in the academic domain). In identifying these factors as predictive of academic buoyancy, Martin and Marsh suggested them as potentially effective points for intervention. In a subsequent study, Martin and Marsh (2008a) also found quality interpersonal relationships to be a factor in students’ academic buoyancy—indicating teacher–student and parent–child relationships as another point of intervention for academic buoyancy and resilience (discussed in Sect. 3.5.2.12).

3.5.2.11 Developing Academic Adaptability Academic buoyancy and resilience are important for successfully coping with academic adversity. Importantly, however, there has been recent interest in positive trajectories (Bandura 2006) that extend the resilience narrative beyond simply coping with adversity (i.e., academic resilience and buoyancy) to developing adaptive responses to change and uncertainty. In the context of the present discussion, this has the potential to take students further by actually increasing perceived competence and self-worth. Academic adaptability is proposed by Martin (2010) as students’ adaptive regulation in the face of uncertainty, change, or novelty. It posits that students’ regulation efforts take place across three core domains of functioning: cognition, affect, and behavior. Thus, “academic adaptability” is defined as students’ capacity to adaptively regulate cognition, emotion, and behavior in response to new, changing, and/or uncertain conditions and circumstances (Martin 2010). Students equipped with academic adaptability are proposed to be capable of purposefully and successfully adjusting and/or changing their thoughts (cognition), emotion (affect), and behavioral repertoire to evince a positive trajectory on target phenomena such as academic achievement, motivation, and engagement (Martin 2010). Recent research has empirically investigated academic adaptability and found it

3 Attention-Deficit/Hyperactivity Disorder (ADHD), Perceived Competence … Fig. 3.1 “Connective Instruction” Model. (Adapted with permission from A. J. Martin (2010). Building Classroom Success. London: Continuum)

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The extent to which pedagogy impacts achievement, motivation, and engagement is a function of the student’s personal CONNECTION to the: 1. Teacher—Interpersonal Relationship (‘WHO’) 2. Message/Content/Assessment—Substantive Relationship (‘WHAT’) 3. Teaching—Pedagogical Relationship (‘HOW’)

STUDENT’S PERSONAL CONNECTION TO: PEDAGOGY

1. TEACHER (‘WHO’) 2. MESSAGE/TASK (‘WHAT’) 3. TEACHING (‘HOW’)

significantly related to achievement, motivation and engagement (Martin et al. in press).

3.5.2.12 Quality Interpersonal Relationships—and “Connective Instruction” Edbom et al. (2008) report that because there is not a straightforward link between ADHD and self-esteem, there is a need for individualized person-centered intervention. Recent work by Martin and colleagues (Martin and Dowson 2009; Martin et al. 2009, 2007) found interpersonal relationships as one key element significantly correlated with students’ academic self-efficacy and general self-esteem. In their research, they traversed teacher, parent, and peer relationships and found that each significantly mapped onto perceived competence and self-worth. Of particular relevance to the present discussion of perceived competence and self-worth in the academic domain, the teacher-student relationships were the strongest correlate with academic self-efficacy. This indicates its importance in intervention efforts aimed at enhancing perceived academic competence and self-worth. However, a major challenge for educators in building good interpersonal relationships with students is that they typically deal with students in groups. Group settings make it difficult to connect individually to students, get to know them to the extent needed for optimal achievement, and make the necessary accommodations for students with special needs (e.g., ADHD). Martin (2006a, 2010; see also Martin and Dowson 2009) recognized this challenge and proposed connective

ACHIEVEMENT ENGAGEMENT MOTIVATION

instruction as a means by which educators can facilitate each individual student’s connection to teaching and learning even though he or she is educated in a group setting. According to Martin, the more an individual student can personally connect to the teacher and the teaching and learning, the more motivated and engaged he or she is likely to be—see Fig. 3.1. Martin further detailed connective instruction as that which connects to the individual student on three levels (a) the level of substance and subject matter (“what” the teacher teaches), the pedagogical level (“how” the teacher teaches), and the interpersonal level (“who” the teacher seeks to personally connect with). Proposed indicators for each of these three dimensions are presented in Table 3.2. Hence, although originally developed to accommodate the need for all students to meaningfully connect with the teacher in individualized ways, connective instruction may also be an effective framework for considering the academic development, perceived competence, and self-worth of students with ADHD.

3.6 Conclusion Research focusing on students with ADHD identifies numerous factors underpinning their perceived academic competence and self-worth. These factors hold direct implications for strategies practitioners can use to enhance academic achievement, motivation, engagement, and more positive conceptions of self (see Table 3.1 for a summary). Through genuinely addressing psy-

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A. J. Martin

Table 3.2 “Connective instruction” indicators. (Adapted with permission from A. J. Martin (2010). Building classroom success. London: Continuum) Interpersonal Relationship (Relationship between student and teacher) “WHO”

Substantive Relationship (Relationship between student and subject matter) “WHAT”

I make an effort to listen to my students’ views

I set work that is challenging but not I get students to do something well as too difficult much as possible and provide support needed to do this Where possible I set work that is I have multiple indicators of success important and significant in schoolwork (marks, effort, group work, reaching goals, improve) I inject variety into my teaching I provide clear feedback to students content focusing on how they can improve I inject variety into my assessment I make an effort to explain things tasks clearly and carefully I provide students with interesting I inject variety into my teaching work methods and reduce repetition or monotony I use broad and authentic (relevant I encourage my students to learn from and meaningful) assessment their mistakes I try to ensure that my teaching con- I aim for mastery by all students tent is not boring to young people In class and assigned work, I reduce I show students how schoolwork is monotony as much as possible relevant and/or meaningful Where possible I draw on material I make sure all students keep up with that is fun to learn work and give opportunities to catch up or go over difficult work Where possible I use material that I don’t rush my lessons or my arouses my students’ curiosity explanations

A good teacher-student relationship is one of my priorities I give my students input into things and decisions that affect them I enjoy working with young people Where appropriate or when necessary, I try to have a sense of humor with my students I get to know my students I explain the reasons for rules that are made and enforced I show no favoritism I accept my students’ individuality I have positive but attainable expectations for students

cho-educational, interpersonal, and academic factors relevant to perceived competence and self-worth, there are clear intrapsychic and educational benefits to be gained by students with ADHD—and by implication, the practitioners seeking to improve their academic functioning. Addressing some, most, or all of these factors places students with ADHD in a stronger posi-

Pedagogical Relationship (Relationship between student and teaching) “HOW”

tion to achieve to their potential and feel more positive and optimistic about learning and about themselves. Acknowledgments The author would like to thank Harry Nejad for his assistance in the logistics of finalizing the manuscript.


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Appendix PERSONAL BEST (PB) INDEX (Reproduced with permission from A.J. Martin (2010). Building Classroom Success. London: Continuum)

Name

Year

Class

Date

This Term’s Mark (circle one) 3 Points

Around or above previous best

2 Points

Slightly below previous best

1 Point

Well below previous best but put in reasonable effort to get this mark

0 Points

Well below previous best and put in little or no effort to get this mark

This Term’s Enthusiasm/Engagement/Attitude (circle one) 3 Points


2 Points


1 Point

Well below previous best but put in reasonable effort to get involved

0 Points

Well below previous best and put in little or no effort to get involved

Skills/Competencies Developed This Term (circle one) 3 Points


2 Points


1 Point

Well below previous best but put in reasonable effort to develop skills

0 Points

Well below previous best and put in little or no effort to develop skills

Golden Point (circle if applicable to this student) 1 Point

This term this student was committed to personal excellence

TOTAL PB INDEX

/ 10

(Previous PB Index

/ 10)

This student can get closer to his/her PB by: 0-3 Points Overall, well below Personal Best 1. 4-6 Points 2. Overall, below Personal Best

7-9 Points

This student can sustain his/her PB by:

Overall, around or above Personal Best 1. 10 Points Achieved personal excellence

2.

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3 Attention-Deficit/Hyperactivity Disorder (ADHD), Perceived Competence … tective? Journal of Clinical Child Psychology, 31, 230–241. Ollendick, T. H., & King, N. J. (1994). Diagnosis, assessment, and treatment of internalizing problems in children: The role of longitudinal data. Journal of Consulting and Clinical Psychology, 62, 918–927. O’Mara, A. J., Marsh, H. W., Craven, R. G., Debus, R. L. (2006). Do self-concept interventions make a difference? A synergistic blend of construct validation and Meta-Analysis. Educational Psychology, 41, 181–206. Oosterlaan, J., & Sergeant, J. A. (1998). Effects of reward and response cost on response inhibition in AD/HD, disruptive, anxious, and normal children. Journal of Abnormal Child Psychology, 26, 161–174. Ostrander, R., Crystal, D. S., August, G. (2006). Attention deficit-hyperactivity disorder, depression, and self- and other-assessments of social competence: A developmental study. Journal of Abnormal Child Psychology, 34, 773–787. Pelham, W. E., & Hoza, J. (1987). Behavioral assessment of psychostimulant effects on ADHD children in a summer day treatment program. In R. Prinz (Ed.), Advances in behavioral assessment of children and families (Vol. 3, pp. 3–33). Greenwich: JAI Press. Pelham, W. E., Murphy, D. A., Vannatta, K., Milich, R., Licht, B. G., Gnagy, E. M., Greenslade, K. E., Greiner, A. R., Vodde-Hamilton, M. (1992). Methylphenidate and attributions in boys with attention-deficit hyperactivity disorder. Journal of Consulting and Clinical Psychology, 60, 282–292. Pennington, B. F., & Ozonoff, S. (1996). Executive functions and developmental psychopathology. Journal of Child Psychology and Psychiatry, 37, 51–87. Pintrich, P. R. (2003). A motivational science perspective on the role of student motivation in learning and teaching contexts. Journal of Educational Psychology, 95, 667–686. Pisecco, S., Baker, D. B., Silva, P. A., Brooke, M. (1996). Behavioral distinctions in children with reading disabilities and/or ADHD. Journal of the American Academy of Child and Adolescent Psychiatry, 35, 1477–1484. Pisecco, S., Wristers, K., Swank, P., Silva, P. A., Baker, D. B. (2001). The effect of academic self-Concept on ADHD and antisocial behaviors in early adolescence. Journal of Learning Disabilities, 34, 450–461. Pisterman, S., McGrath, P., Firestone, P., Goodman, J. T. (1989). Outcome of parent mediated treatment of preschoolers with attention deficit disorder with hyperactivity. Journal of Consulting and Clinical Psychology, 57, 628–635. Purdie, N., Hattie, J., Carroll, A. (2002). A review of the research on interventions for Attention Deficit Hyperactivity Disorder: What works best? Review of Educational Research, 72, 61–99. Rapport, M. D., Carlson, G. A., Kelly, K. L., Pataki, C. (1993). Methylphenidate and desipramine in hospitalized children: I. Separate and combined effects on cognitive function. Journal of the American Academy of Child and Adolescent Psychiatry, 32, 333–342.

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4

Quality of Life in Children Diagnosed with Specific Learning Disability or AttentionDeficit/Hyperactivity Disorder Sunil Karande

Abstract

Specific learning disability (SpLD) and attention-deficit hyperactivity disorder (ADHD) are the most common neurodevelopmental disorders in children which impair their academic and social functioning. Almost 20% of children with SpLD have co-occurring ADHD and vice versa. Both SpLD and ADHD significantly affect the quality of life (QoL), especially the psychosocial domains, of an afflicted child’s life. Both disorders also impact the QoL of parents and siblings, causing disturbances to family functioning. SpLD even with optimum management often is a lifelong disorder. ADHD too may persist into adulthood causing disruptions to both professional and personal life. This chapter describes the QoL of Indian children with SpLD or ADHD, the factors which affect their QoL and steps that need to be taken to improve their QoL. Abbreviations

ADHD Attention-Deficit/Hyperactivity Disorder DSM-IV-R Diagnostic and Statistical Manual of Mental Disorders, version 4 revised HRQoL Health-Related Quality of Life SpLD Specific Learning Disability QoL Quality of Life

4.1 Introduction During the last decade and half, India has made significant progress as a nation and is now considered to be one of the most upcoming economic S. Karande () Learning Disability Clinic, Department of Pediatrics, Seth Gordhandas Sunderdas Medical College and King Edward VII Memorial Hospital, Parel, 400012, Mumbai, India e-mail: [email protected]

giants in the world. This economic progress has led to a large majority of Indian parents, including those who are themselves not well educated, having aspirations that their children get access to good education and achieve academic excellence (Karande 2008). Although awareness about specific learning disability (SpLD) and attention-deficit/hyperactivity disorder (ADHD) has begun to grow amongst pediatricians and school authorities, especially in the mega cities of India (Mumbai, New Delhi, Kolkata, Chennai, Ban-


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galore, Hyderabad), it is still less than optimum (Karande 2008). Specific learning disability and attentiondeficit/hyperactivity disorder are the most common neurodevelopmental disorders in children which impair their academic and social functioning (Shaywitz 1998; Shaywitz et al. 1995). Almost 20% of children with SpLD have cooccurring ADHD and vice versa which may further impair their academic and social functioning (Shaywitz 1998; Shaywitz et al. 1995). A child or adolescent with SpLD or ADHD or both has to cope with its psychological, social, and physical consequences. In general, there have been few studies in the world, not just in India, which have analyzed the quality of life (QoL) of children having SpLD or ADHD (Karande et al. 2009a). This chapter describes the QoL of Indian children with SpLD or ADHD, the factors which affect their QoL and steps that need to be taken to further improve their QoL. This chapter includes the author’s own perspectives derived from his 12 years of experiences in managing these children and their parents.

4.2 Definitions 4.2.1 Definition of QoL Quality of Life (QoL) is defined by the World Health Organization (WHO) as an individual’s perception of his/her position in life in the context of the culture and value systems in which he/she lives, and in relation to his/her goals, expectations, standards, and concerns (World Health Organization 1995). It is a broad-ranging concept, incorporating in a complex way, the person’s physical health, psychological state, level of independence, social relationships, personal beliefs, and relationship to salient features of the environment (World Health Organization 1995). It is very important that children with chronic conditions such as SpLD or ADHD not only get optimum management for their condition but their QoL also needs to be kept as good as possible.

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4.2.2 Definition of SpLD Specific learning disability (SpLD) is a group of neurodevelopmental disorders which manifest in childhood as persistent difficulties in learning to efficiently read (“dyslexia”), write (“dysgraphia”), or do simple mathematical calculations (“dyscalculia”) despite normal intelligence, conventional schooling, intact hearing and vision, and adequate motivation and socio-cultural opportunity (American Psychiatric Association 1994; World Health Organization 1993). Specific learning disability is intrinsic to the individual, presumed to be due to central nervous system dysfunction, and is chronic life-long condition (Karande and Kulkarni 2005; Shaywitz 1998). Recent genetic linkage studies have implicated loci on chromosomes 6 and 15 in dyslexia (Grigorenko et al. 1997).

4.2.3 Definition of ADHD Attention-deficit/hyperactivity disorder is a chronic behavioral disorder characterized by persistent hyperactivity, impulsivity, and inattention that result in clinically significant impairment in academic or social functioning, or in both (American Psychiatric Association 2000). The diagnosis of ADHD is based on clinical findings and is made by ascertaining whether the child’s specific behaviors meet the Diagnostic and Statistical Manual of Mental Disorders, version 4 revised (DSM-IV-R) criteria (American Psychiatric Association 2000). These criteria define three subtypes of ADHD (1) ADHD primarily of the inattentive type (ADHD/I); (2) ADHD primarily of the hyperactive-impulsive type (ADHD/HI); and (3) ADHD, combined type (ADHD/C). ADHD is intrinsic to the individual and is presumed to be due to central nervous system dysfunction (Karande 2005). Its etiology is still unclear but recent studies suggest that genetics plays a major role in conferring susceptibility (Ogdie et al. 2004).

4 Quality of Life in Children Diagnosed with Specific Learning Disability …

4.3 Clinical Features of These Disorders 4.3.1 Clinical Features of SpLD Up to 5–15% of “seemingly normal” school children have this hidden disability (Karande and Kulkarni 2005; Shaywitz 1998). These children present with “academic problems” such as reading slowly and incorrectly, skipping lines while reading aloud, repeatedly making spelling mistakes, illegible handwriting with poor sequencing, and inability to perform even simple mathematics (Karande and Kulkarni 2005; Shaywitz 1998). Dyslexia afflicts 80% of all children identified as having SpLD (Karande and Kulkarni 2005; Shaywitz 1998). Children with SpLD invariably fail to achieve school grades at a level that is appropriate for their intelligence (Karande and Kulkarni 2005; Shaywitz 1998). Their “academic problems” also have an adverse impact on their self-image, peer and family relationships, and social interactions (Karande et al. 2009a; Shaywitz 1998). It is important to identify SpLD early rather than when chronic poor school performance and its attendant emotional sequelae such as low selfesteem and behavioral problems ensue (Karande and Kulkarni 2005; Shaywitz 1998). Children with SpLD are often rejected by their peers and may fall into substance abuse addiction and become delinquents (Karande and Kulkarni 2005; Shaywitz 1998). Currently, SpLD cannot be conclusively diagnosed until the child is about 8 years old (Karande and Kulkarni 2005; Shaywitz 1998).

4.3.2 Clinical Features of ADHD The prevalence of ADHD among school-aged children in USA is estimated to be between 8 and 12% (Brown et al. 2001). These children present with academic underachievement and failure, disruptive classroom behavior, inattentiveness, poor self-esteem, or problems with establishing or maintaining social relationships (Karande 2005). Their “behavior problems” also have an adverse

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impact on their self-image, peer and family relationships, and social interactions (Mannuzza and Klein 2000). Even parents of preschool children with ADHD may be under huge stress when their child does not respond to ordinary parental requests and behavioral advice (DuPaul et al. 2001). It is now well recognized that the presence of a child with ADHD results in increased likelihood of disturbances to family and marital functioning, disrupted parent-child relationships, and increased levels of parent stress (Deault 2010). Whereas it was previously thought that all children eventually outgrow ADHD, recent studies suggest that 30–60% of affected children continue to show symptoms of the disorder into adolescence and young adulthood (Faraone et al. 2006). Adolescence may bring about a reduction in the overactivity but inattention, impulsiveness, and inner restlessness remain resulting in academic, behavioral, and social impairment (Faraone et al. 2006). Among individuals whose symptoms abate during adolescence, the outcome may be similar to that of normal subjects in terms of social functioning, and drug and alcohol use, although not academic achievement (Mannuzza and Klein 2000; Nijmeijer et al. 2008). Adults with persistent symptoms complete less formal schooling, have lower-status jobs and have higher rates of antisocial personality (Mannuzza and Klein 2000; Nijmeijer et al. 2008).

4.4 Management of These Disorders 4.4.1 Management of SpLD The cornerstone of treatment of SpLD is remedial (“special”) education (Karande and Kulkarni 2005; Shaywitz 1998).Because of the central nervous system’s higher plasticity in early years, this should ideally begin early, when the child is in primary school viz., before the age of 10 years—to achieve maximal benefit (Karande and Kulkarni 2005; Shaywitz 1998). Using specific teaching strategies and teaching materials, the special educator formulates an Individual Educational Program to reduce or eliminate the child’s deficiencies in specific learning areas of

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reading, writing, and mathematics identified during the child’s educational assessment (Karande and Kulkarni 2005; Shaywitz 1998). The child has to undergo remedial education sessions twice or thrice weekly for a few years to achieve academic competence (Karande and Kulkarni 2005; Shaywitz 1998). During these sessions the child with dyslexia undergoes systematic and highly structured training exercises to learn that words can be segmented into smaller units of sound (“phoneme awareness”), and that these sounds are linked with specific letters and letter patterns (“phonics”, Karande and Kulkarni 2005; Shaywitz 1998).The child also requires practice in reading stories; both to apply newly acquired decoding skills to reading words in context and to experience reading for meaning (Karande and Kulkarni 2005; Shaywitz 1998). For dyscalculia, remediation involves rote learning of arithmetic facts, developing strategies for solving arithmetic exercises, and developing “number sense” or its access via symbolic information (Shalev 2004).However, even after adequate remedial education, subtle deficiencies in reading, writing, and mathematical abilities persist (Karande and Kulkarni 2005; Shaywitz 1998). The management of SpLD in the more timedemanding setting of secondary school is based more on providing provisions or accommodations rather than remediation (Karande and Kulkarni 2005; Shaywitz 1998). These provisions, for example, exemption from spelling mistakes, availing extra time for all written tests, dropping a language and substituting it with work experience, dropping algebra and geometry and substituting them with lower grade of mathematics and work experience, are meant to help the child cope up in a regular mainstream school (Karande and Kulkarni 2005; Kulkarni et al. 2006; Shaywitz 1998).

4.4.2 Management of ADHD It is important to identify ADHD early and begin its management. Parent training is the sole treatment for children with ADHD who are below 6 years of age (Sonuga-Barke et al. 2001). Par-

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ents are taught by psychologists or social workers to achieve consistent and positive interactions with their affected child. They are taught how to reinforce positive behaviors by praise or by using daily contingency charts (star or ‘happy face’ charts), how to extinguish negative behaviors by active ignoring, and how to effectively punish for intolerable behaviors (Pelham and Fabiano 2000). Even for mild cases of ADHD who are above 6 years of age, medications may not be necessary. In children with moderate or severe ADHD who are above 6 years of age, methylphenidate and atomoxetine are the two drugs being currently prescribed in India and their efficacy in decreasing the symptoms of ADHD is well documented (Karande 2005). Although medication works well in most cases of ADHD, optimal treatment requires integrated medical and behavioral treatment (Karande 2005). Simple pyschoeducational interventions at school such as seating the child near the teacher to minimize classroom distractions or assigning a specific teacher to review daily assignments with the child have been shown to be effective in improving the behavior and academic performance of affected children (Hoffman and DuPaul 2000). If not managed properly, by adolescence, in up to 20–25% development of comorbid psychiatric disorders such as anxiety disorder, depression, oppositional defiant disorder (ODD), and conduct disorder (CD) is known to occur (Waxmonsky 2003). If ADHD with coexisting psychiatric conditions remains undetected, the prognosis is poorer. Adolescents with ADHD and coexisting depression are at increased risk for suicide attempts (Mannuzza and Klein 2000; Nijmeijer et al. 2008). Frequently, children and adolescents with ADHD with persisting ODD later develop symptoms of sufficient severity to qualify for a diagnosis of CD (Waxmonsky 2003). The frequency of substance-use disorder, mostly not involving alcoholism, is higher among adolescents and young adults with ADHD predominantly among those with coexisting CD (Mannuzza and Klein 2000; Nijmeijer et al. 2008; Waxmonsky 2003).


4.5 Research Studies Done in India 4.5.1 Studies Done on Indian Children with SpLD In the last few years, a few research studies which are related to the QoL of children with SpLD have been done by me and my colleagues. The main findings of these studies are summarized below.

4.5.1.1 Health-Related Quality of Life (HRQoL) of Children with SpLD The health-related quality of life (HRQoL) is a multidimensional measure of the overall condition of a human life, namely, physical, psychological, and social environment (World Health Organization 1995). In the year 2005, a study was conducted in my institute’s learning disability clinic with the aim to (i) measure and analyze the parent-reported HRQoL of children with newly diagnosed SpLD and (ii) to evaluate the impact of clinical and socio-demographic characteristics on their HRQoL (Karande et al. 2009a). To the best of my knowledge, this is the first study done anywhere in the world to document and analyze the HRQoL of children with SpLD. The HRQoL of the study children (n = 150, of which 38 children that is 25% had co-occurring ADHD) was measured using the Child Health Questionnaire–Parent Form 50 (CHQ–PF50) which has been devised and validated (Landgraf et al. 1999). This generic instrument is designed to be completed by a parent to measure the HRQoL of a child aged 5–18 years. This study relied on information obtained from parents, rather than from the children themselves, since most children with newly diagnosed SpLD have limited reading ability to complete an HRQoL questionnaire properly. It is possible that the health perceptions of these children might have differed from those of their parents. However, for the pediatric population, parent-proxy tools are generally accepted as being reliable measures of child health status (Eiser and Jenney 2007). This study confirmed that the HRQoL of Indian children with newly diagnosed SpLD (mean age 12.2 years, SD 2.2, range 7.01–17.03) is sig-

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nificantly compromised in several psychosocial and physical domains of health (Karande et al. 2009a). This study documented that children with newly diagnosed SpLD very often exhibit aggressive, immature, delinquent behavior; often have feelings of anxiety and depression; and have severe limitations in school work or activities with their friends as a result of their emotional and/or behavioral problems. These children also have poor physical health; which leads to their having lots of limitations in their physical activities, including self-care; and in doing school work or activities with their friends. Their psychosocial and physical problems not only have a significant impact on their parent’s emotional health and personal time, but also very often limit and interrupt activities or generate tension for the entire family. The present study also documents that the ‘overall’ health of these children is significantly compromised; with their psychosocial health being adversely affected more than their physical health. Also, in the present study, multivariate analysis demonstrated that having one or more associated nonacademic problem(s) (such as behavioral problems, speech problems, anxiety problems, chronic allergies, depressive thoughts, sleep disturbances, nocturnal enuresis, etc.), co-occurring ADHD, or first-born status were independent predictors of a poor ‘overall’ psychosocial health outcome; and having one or more associated nonacademic problem(s) or firstborn status were independent predictors of a poor ‘overall’ physical health outcome. Also, class detention (or grade retention) had been experienced by 38 (25%) study children. Class detention is known to cause severe emotional stress and lead to behavioral problems (Pagani et al. 2001). This study clearly showed that children with newly diagnosed SpLD and their families have problems in their everyday lives that go far beyond the symptoms of the disorder. We proposed that the HRQoL should be documented in every child with newly diagnosed SpLD to gather information about the child’s and family’s actual life situation. This information would be useful to counselors to help improve the child’s and family’s QoL. The study also revealed that the firstborn status was an independent predictor of

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poor ‘overall’ psychosocial and physical health outcome. In Indian society, parents often have high expectations from their first-born child. We postulated that a first-born child with SpLD may therefore be experiencing a lot more stress at home due to parental expectations for good school grades (Karande et al. 2009a). Further detailed analysis of our results confirmed that the HRQoL of children with newly diagnosed SpLD and co-occurring ADHD (SpLD/ADHD) was significantly poorer than the HRQoL of “SpLD only” children (Karande and Bhosrekar 2009). Our data clearly showed that “SpLD/ADHD” children more often exhibit aggressive, immature, and delinquent behavior; they are more dissatisfied with their abilities, family and peer relationships, and their overall life; and their problems have a significant impact on their parent’s emotional health and personal time. Also they have significantly lower psychosocial summary scores, indicating clinically and socially relevant decreased psychosocial wellbeing (Karande and Bhosrekar 2009). Our results highlighted the importance of treating co-occurring ADHD to improve the psychosocial health of children with SpLD/ADHD.

4.5.1.2 Recollections of LearningDisabled Adolescents of Their Schooling Experiences Little is known about the actual impact of the schooling experience on adolescents with SpLD, as they recall it. Hence we undertook this qualitative study (June to August 2007) to analyze the recollections of adolescents with SpLD who had been diagnosed in our clinic and were undergoing their education in regular mainstream schools (Karande et al. 2009b). The interview instrument, designed for this study by the investigators, had both open- and close-ended questions to guide the interview. Before the study commenced, the interview instrument had been critiqued for content validity and clarity. Each semi-structured interview was conducted over 20–30 min in a quiet, secluded room by a single investigator, audio-recorded, and then transcribed verbatim and interpreted by content analysis. The adolescent was interviewed without the parent(s) being present. The number of participants was determined by

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‘saturation sampling,’ that is, when the participants repeated the same information and no new data was forthcoming, resulting in a total of 30 adolescents (mean age 15.7 years, SD 1.1; range 13.7–17.9 years). In this study, adolescents with SpLD who had comorbid ADHD had been excluded as these conditions themselves can influence their recollections of their schooling years. The results of this study revealed that 12 (40%) adolescents had ‘overall’ neutral recollections, 9 (30%) had ‘overall’ positive recollections, and 9 (30%) had ‘overall’ negative recollections about having SpLD during their schooling (Karande et al. 2009b). Fourteen (47%) adolescents stated ‘getting provisions’ as good features, whereas 7 (23%) stated ‘feeling different from classmates’ and 6 (20%) stated ‘being teased by classmates about their disability’ as bad features of having SpLD. Nineteen (63%) adolescents remembered classroom teachers being supportive, while 7 (23%) remembered being insulted by them. Of the 21 adolescents who had undergone remedial education, only 10 (47%) acknowledged that it had benefited them. Twenty-one (70%) adolescents stated that availing provisions helped in getting better marks in examinations. Ten (33%) adolescents had negative recollections about their parents’ behavior in relation to their disability. Of the 23 adolescents who had sibling(s), 4 (17.4%) adolescents recalled at least 1 bad experience with their sibling(s) in relation to their disability (Karande et al. 2009b). This study revealed that poor knowledge of classroom teachers, classmates, and family members about SpLD and about the rationale of provisions results in unpleasant experiences for students with SpLD during their schooling years and thus adversely affects their QoL (Karande et al. 2009b).

4.5.2 Studies Done on Indian Parents of Children with SpLD 4.5.2.1 Anxiety Levels in Mothers of Children with SpLD It is known that parents of children with SpLD are not aware of this hidden disability and undergo stress in coping with the child’s condition (Karande and Kulkarni 2005). However, no study


had documented the anxiety levels and causes of the anxiety in parents having a child with this hidden disability. Keeping this in mind we conducted a study whose objectives were to measure the levels of anxiety in mothers of children with SpLD at the time of diagnosis and to find out the cause of their anxiety (Karande et al. 2009c). In this study (done from September 2006 to May 2007), we interviewed 100 mothers (mean age 40.14 years, SD 4.94, range 25.07–54.0). Each interview was conducted over about 45 min in a quiet room with only the mother present and after reassuring her of confidentiality of all personal information. Firstly, the Hamilton Anxiety Scale (HAM-A), a widely used and validated clinicianrated symptom scale designed to quantify the severity of anxiety symptoms over the past one week, was used to measure the levels of anxiety in each mother (Hamilton 1959; Sajatovic and Ramirez 2003). Subsequently, each mother was interviewed using a semistructured questionnaire to find out what was worrying her over the last one week in all areas of her life and her worries were noted ad verbatim. The interview instrument, designed for this study by the investigators, had both open- and close-ended questions to guide the interview. Before the study commenced, the interview instrument had been critiqued for content validity and clarity. This study documented that in the city of Mumbai, most mothers (75%) have already developed mild levels of anxiety by the time SpLD is diagnosed in their child. Their common worries were related to child’s poor school performance (95%); child’s future prospects in life (90%); child’s behavior namely, aggressive behavior, temper tantrums, stubbornness, hyperactivity, or inattentiveness (51%); and making visits to our clinic for their child’s assessment (31%; Karande et al. 2009c). This study highlighted the acute need to address maternal anxieties about SpLD right at the time of diagnosis of the disability in the child (Karande et al. 2009c).

4.5.2.2 Quality of Life of Parents of Children with SpLD Until recently no study had documented the QoL of parents having a child with SpLD. Keeping this in mind, we conducted a study whose ob-

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jectives were to measure and analyze the QoL of parents having a child with newly diagnosed SpLD and to evaluate the impact of clinical and socio-demographic characteristics on their QoL (Karande and Kulkarni 2009). The QoL of the study parents (n = 150) was measured using the ‘International World Health Organization Quality of Life-100 instrument (WHOQoL-100)’ (World Health Organization 1998). This generic instrument is designed for cross-cultural subjective assessment and whose validity and reliability is well documented (Power et al. 1999). This study revealed that Indian parents having children with newly diagnosed SpLD (mean age 42.6 years, SD 5.5; mother to father ratio 1.3:1) regard four domains (psychological > environment > social relationships > spiritual) as significant contributors to their “overall” QoL (Karande and Kulkarni 2009). Multivariate analysis revealed that being a mother was an independent predictor of “poor” psychological and social relationships domain scores; and being currently ill was an independent predictor of a “poor” social relationships domain score. Our study also showed that these parents regard five facets (participation in and opportunities for leisure activities > positive feelings > energy and fatigue > self-esteem > sexual activity) as important contributors to their overall QoL. Multivariate analysis revealed that being currently ill was an independent predictor of “poor” ‘participation in and opportunities for leisure activities’ and ‘energy and fatigue’ facet scores; being in paid work was another independent predictor of a “poor” ‘participation in and opportunities for leisure activities’ facet score; being a mother was an independent predictor of “poor” ‘positive feelings’ and ‘energy and fatigue’ facet scores; and child being male was an independent predictor of “poor” ‘energy and fatigue’ facet score (Karande and Kulkarni 2009). This study identified the significant clinical and socio-demographic variables which impact the QoL of these parents and which need to be addressed by counselors right at the time SpLD is diagnosed in their child (Karande and Kulkarni 2009). Improving the QoL of parents would eventually improve the home environment and help rehabilitation of children with SpLD.

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4.5.3 Studies Done on Indian Children with ADHD To date and to the best of my knowledge, no research study has been done on QoL of Indian children with ADHD.

4.6 Research Studies Done on QoL of Children with ADHD 4.6.1 Health-Related Quality of Life (HRQoL) of Children with ADHD Escobar et al. (Spain) have documented and analyzed the HRQoL of “untreated” children with newly diagnosed ADHD using the CHQPF50 (Escobar et al. 2005). Diagnostic delay for children with ADHD was 2–12 years (mean 5.8 years, SD 2.3). Their results revealed that both children with ADHD and their families had already developed problems in their everyday lives because of the disorder. Although interference with their daily lives was mainly in areas related to psychosocial functioning, impaired physical functioning was also apparent. Children with ADHD had developed behavioral problems (aggressive, immature, delinquent behavior), limitations in schoolwork or activities with friends as a result of physical problems, worse family relationships, lower self-esteem, and more feelings of anxiety or depression than controls (namely asthmatic or healthy children). Children in this study had also shown significantly more comorbid disorders, namely ODD and anxiety disorders than controls. Parents worried a great deal as a result of their child’s condition and had more limitations on their personal time. Also, there were severe limitations in family activities (Escobar et al. 2005).

4.6.2 Health-related Quality of Life (HRQoL) of Children with ADHD Klassen et al. (Canada) have documented and analyzed the HRQoL of children with ADHD using the CHQ-PF50 (Klassen et al. 2004). About 45%

S. Karande

of children in their study sample (mean age 10 years, SD 2.8) had received stimulant medication for ADHD in the past and 28% were currently on medication. Ninety (69%) children had at least one comorbid psychiatric diagnosis. Fifty-one (39%) children had a comorbid SpLD, 45 (34%) had ODD/CD, and 27 (21%) had some other comorbid diagnosis (e.g., Tourette syndrome, sleep disorder, depression, anxiety disorder, communication disorder). Their results revealed that ADHD had a significant impact on multiple domains of HRQoL in children and adolescents. Compared with normative data, children with ADHD had more parentreported problems. These children were limited in a lot of school work or activities with friends as a result of emotional or behavioral problems; they very often exhibited aggressive, immature, delinquent behavior; they very often had feelings of anxiety and depression; and were dissatisfied with their abilities, family/peer relationships, and life overall. In addition, the problems of children with ADHD had a significant impact on the parents’ emotional health and parents’ time to meet their own needs, and they interfered with family activities and family cohesion. Also, children with more symptoms of ADHD had worse psychosocial HRQoL. Children with multiple comorbid disorders had poorer psychosocial HRQL across a range of domains compared with children with none and one comorbid disorder. In addition, compared with children with no comorbidity, psychosocial HRQL was significantly lower in children with ODD/CD, and children in the other comorbidity group (namely, Tourette syndrome, sleep disorder, depression, anxiety disorder, and communication disorder) but not in children with SpLD. In this study, the comorbid SpLD did not worsen the already poor psychosocial HRQoL in children with ADHD (Klassen et al. 2004).

4.6.3 Recent Systematic Review on QoL of Children with ADHD A recent review of literature on QoL of children with ADHD has reviewed data from 36 relevant


articles to confirm that ADHD seriously compromises QoL especially when seen from the parents’ perspective (Danckaerts et al. 2010). However, children with ADHD rate their own QoL less negatively than their parents and do not always see themselves as functioning less well than healthy controls. These discrepant findings between child and parent reports of QoL may be the result of their young age, namely, children due to their innate innocence, are less judgmental and more accepting of their situation. Other reasons may be that children may be overestimating their own abilities and performance in order to protect a positive self-image; or they may want to conceal their problems; or they may be making systematic mistakes in rushing through the questionnaires because of their impulsive cognitive style (Danckaerts et al. 2010).

4.7 Improving QoL of Children with These Disorders Every child diagnosed with SpLD or ADHD or both offers a unique challenge to the pediatrician, child psychiatrist, special educator, medical social worker, and school teachers. This is true because each child’s situation in the family and school and the community at large can vary widely. Both parents and school teachers need to be empathetic and well-informed to enable the child to achieve not only his or her academic potential, but to grow up to be a stable, well-adjusted adult who can contribute positively to the society at large.

4.7.1 Improving QoL of Indian Children with SpLD A Hindi movie Taare Zameen Par (“Stars on the Earth”) released in the year 2007 has sensitively and accurately depicted the plight of an 8-yearold boy battling SpLD (Karande 2008). The commercial success and critical acclaim of this movie has created a tremendous impact and has helped sensitize viewers about this hidden disability. However, a lot needs to be done to ensure that

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every child with SpLD is detected and receives remedial education in India. At present, even in the mega cities such as Mumbai, Chennai, Bangalore, New Delhi, Hyderabad, and Kolkata, there are very few learning disability clinics for doing the psychoeducational testing for diagnosing SpLD; and there is a dearth of qualified special educators and remedial teachers. In smaller towns and rural areas, such clinics are nonexistent (Karande 2008). Firstly, awareness of this hidden disability has to be increased. For this, the topic of SpLD should be compulsorily taught to doctors, school teachers, counselors, and general public (who are the future parents) during their undergraduate studies. Parents of a child with newly-diagnosed SpLD have very poor understanding of the disorder (Karande et al. 2007). Even a one-time educational intervention can help these parents improve their knowledge; namely, (i) of the meaning of the term ‘SpLD,’ (ii) that remedial education is to be given by a special educator (and not by a regular school teacher) and it is the recommended treatment of SpLD, (iii) the meaning of the term ‘remedial education,’ (iv) that remedial sessions are necessary twice or thrice weekly for a period of 1–3 years to achieve academic competence, (v) the meaning and purpose of provisions or accommodations, and (vi) the fact that SpLD is a lifelong disorder (Karande et al. 2007). A recent study done in our clinic has documented that children with SpLD who availed the benefit of provisions showed a significant improvement in their academic performance at the standard X board examinations (Kulkarni et al. 2006). Secondly, an evaluation for SpLD should be considered for all children presenting with learning problems in preschool/school (Karande 2008). This would help diagnose SpLD at a young age when remedial education can be initiated to help the child largely overcome the disability. At present, many children with SpLD studying in non-English (vernacular) medium schools, and especially in rural areas, are going undetected for nonavailability of standardized psychological and educational tests. This lacunae needs to be corrected by developing standardized psychological and educational tests in all Indian languages.

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Also, few special educators are available to do the educational testing necessary for diagnosing SpLD. Many more universities in our country should start the undergraduate degree course, namely, B.Ed. (Special Education) and the postgraduate degree course, namely, M.Ed. (Special Education) for people wanting to become remedial teachers and special educators, respectively. Regular school teachers should be encouraged to take up the additional responsibility of becoming remedial teachers (Karande 2008). Thirdly, SpLD should be recognized as a disability by the union government of India (Karande 2008). For this, the advocacy groups will have to convince the policy makers to amend the Persons with Disabilities (Equal Opportunities, Protection of Rights and Full Participation) Act, 1995 which is guided by the philosophy of promoting equality and participation of persons with disabilities and eliminating discriminations of all kinds (Ministry of Social Justice and Empowerment 1996). At present, the Act recognizes visual impairment, hearing impairment, locomotor disability, mental retardation, leprosy-cured, and mental illness to be disabilities (Ministry of Social Justice and Empowerment 1996). The government of India, since 2001, has launched the Sarva Shiksha Abhiyan (“Education for All Movement”) which is a comprehensive and integrated flagship program to attain universal elementary education in the country in a mission mode (Department of School Education and Literacy 2001). Launched in partnership with the state governments, the program aims to provide useful and relevant education to all children, including children with disabilities (Department of School Education and Literacy 2001). Once SpLD is recognized as a disability by the government of India, children with SpLD would be able to benefit significantly. Funds from the Sarva Shiksha Abhiyan would be available to set up detection centers in every city/town/district headquarters and remediation centers in each school all over the country. At present, the facility of remedial education is still not available in many schools even in a megacity such as Mumbai and many parents cannot afford the services of special educators working in the private sector (one session costs about rupees 250–500; Karande 2008).

S. Karande

The children with SpLD should have regular counseling sessions in their schools to prevent feelings of alienation, self-loathing, and despair (Karande et al. 2009b). The children with SpLD/ ADHD need special care as they and their parents have far more problems in their everyday life than children with SpLD only (Karande and Bhosrekar 2009). To improve QoL of children with SpLD/ADHD, it is important to treat co-occurring ADHD effectively (by behavioral therapy and if necessary with medications) to improve the psychosocial health of such children. Also, without the symptoms of ADHD being controlled, it is often difficult for the remedial teacher to do the remedial education effectively.

4.7.1.1 Improving QoL of Indian Parents with Children with SpLD or SpLD/ADHD Quality of life of the parents (and therefore siblings) needs to be simultaneously improved (see Sects. 4.5.2.1 and 4.5.2.2). Parents, especially mothers as they usually do the day-to-day rearing in Indian society, should be counseled in depth over a few sessions, about what is SpLD and why it results in poor school performance (Karande et al. 2009c). Their anxieties about the child’s future should be allayed by informing them that school performance improves after the child undergoes remedial education and avails the benefits of provisions or accommodations in his or her school curriculum. The parents should also be advised about good parenting techniques to lessen the behavioral problems (Karande et al. 2009c). Counselors should spend more time and have follow up visits especially for all mothers in general and for parents who are ill and those who are working parents (Karande and Kulkarni 2009). The parents who are stressed can be advised to keep aside time for recreation and leisure activities and do regular ‘yoga’ exercises or other relaxation techniques (Karande and Kulkarni 2009).

4.7.2 Improving QoL of Indian Children with ADHD QoL of Indian children with ADHD can be improved by improving the knowledge about this


disorder amongst doctors, school teachers, counselors, and the general public. Increase in ADHD awareness would help shorten the time to diagnose it. Early recognition, assessment, and management of this condition would redirect the educational and psychosocial development of most children with ADHD. It is important to teach these parents good parenting techniques to help preclude development of comorbidities such as anxiety disorder, depression, ODD, and even CD (Deault 2010). Both school teachers and parents should be knowledgeable of the psychoeducational interventions (see Sect. 4.4.2) needed by these children to improve their academic and social functioning in the school and in society. There is emerging evidence that QoL improves with effective medical treatment (Danckaerts et al. 2010). In my clinic, the main targets of ADHD treatment have focused on reducing the severity of symptoms during the school days and improving academic performance. Both methylphenidate and atomoxetine are used to effectively reduce the ADHD symptoms. In my experience, few parents (approximately 30%) are willing to start any drug to control their child’s ADHD symptoms. They are apprehensive of any drug which would be “acting on their child’s brain”. They also download information from the internet about potential side-effects such as weight loss, insomnia, abdominal pain, growth retardation. Many parents prefer to start their children on homeopathic or ayurvedic (alternative) medications. Of the parents who are willing to start medications, very few continue them for long term. In developed countries, the parents seem to be much more willing to start their child on medications. Recent research has shown that both methylphenidate and atomoxetine when used to control the core symptoms during school hours have led to a modest increase in QoL of these children (Bastiaens 2008; Wehmeier et al. 2007; Yang et al. 2007). The latest trend in the treatment of ADHD is to address the issues of social competencies for these children by achieving symptom control, not just during school hours but extending into late afternoon and evening (Buitelaar and Medori 2010). For this, a routine

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use of oral extended-release methylphenidate formulation for benefits of active full day coverage (12 h) with a single daily dose has been recommended as a treatment option (Buitelaar and Medori 2010). Also, switching to methylphenidate transdermal system from a stable dose of routinely prescribed oral extended-release methylphenidate (after a short treatment period) has been recently proposed as a treatment option as majority of parents were highly satisfied with its use (Manos et al. 2009).

4.8 Concluding Remarks Quality of Life of children diagnosed with SpLD or ADHD or both is an extremely important topic in any progressive society. Several research studies still need to be done to unravel lacunae in this vast topic across culturally diverse societies both in the developing and developed world. Some examples for future research include (i) the QoL of adults with SpLD or ADHD or both; (ii) optimum parenting techniques to prevent development of comorbidities such as ODD/CD in children with ADHD; (iii) methods to address the concerns of parents of children with ADHD about the longterm effects of methylphenidate and atomoxetine. Acknowledgments The author would like to thank Dr. S.N. Oak, Director (Medical Education & Major Hospitals, Municipal Corporation of Greater Mumbai) and Dean of Seth G.S. Medical College and K.E.M. Hospital for granting him permission to publish this manuscript. Funding: The Learning Disability Clinic at our Institute is partially funded by a charitable grant from Tata Interactive Systems, Mumbai.

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84 Brown, R. T., Freeman, W. S., Perrin, J. M., et al. (2001). Prevalence and assessment of attention-deficit/hyperactivity disorder in primary care settings. Pediatrics, 107, e43. Buitelaar J., & Medori, R. (2010). Treating attentiondeficit/hyperactivity disorder beyond symptom control alone in children and adolescents: a review of the potential benefits of long-acting stimulants. European Child and Adolescent Psychiatry, 19, 325–340. Danckaerts, M., Sonuga-Barke, E. J., Banaschewski, T., et al. (2010). The quality of life of children with attention deficit/hyperactivity disorder: a systematic review. European Child and Adolescent Psychiatry, 19, 83–105. Deault, L. C. (2010). A systematic review of parenting in relation to the development of comorbidities and functional impairments in children with attention-deficit/ hyperactivity disorder (ADHD). Child Psychiatry and Human Development, 41, 168–192. Department of School Education and Literacy. (2001). Sarva shiksha abhiyan: A program for the universalization of elementary education. Ministry of Human Resource Development. http://www.ssa.nic.in. Accessed 8 Jan 2011. DuPaul, G. J., McGoey, K. E., Eckert, T. L., et al. (2001). Preschool children with attention-deficit/hyperactivity disorder: impairments in behavioral, social, and school functioning. Journal of the American Academy Child and Adolescent Psychiatry, 40, 508–515. Eiser, C., & Jenney, M. (2007). Measuring quality of life. Archives of Disease in Childhood, 92, 348–350. Escobar, R., Soutullo, C. A., Hervas, A., et al. (2005). Worse quality of life for children with newly diagnosed attention-deficit/hyperactivity disorder, compared with asthmatic and healthy children. Pediatrics, 116, e364–e369. Faraone, S. V., Biederman, J., Mick, E. (2006). The agedependent decline of attention deficit hyperactivity disorder: a meta-analysis of follow-up studies. Psychological Medicine, 36, 159–165. Grigorenko, E. L., Wood, F. B., Meyer, M. S., et al. (1997). Susceptibility loci for distinct components of developmental dyslexia on chromosomes 6 and 15. American Journal of Human Genetics, 60, 27–39. Hamilton, M. (1959). The assessment of anxiety states by rating. British Journal of Medical Psychology, 32, 50–55. Hoffman, J. B., & DuPaul, G. J. (2000). Psychoeducational interventions for children and adolescents with attention-deficit/hyperactivity disorder. Child Adolescent Psychiatric Clinics of North America, 9, 647–661. Karande, S. (2005). Attention deficit hyperactivity disorder: A review for family physicians. Indian Journal of Medical Sciences, 59, 546–555. Karande, S. (2008). Current challenges in managing specific learning disability in Indian children. Journal of Postgraduate Medicine, 54, 75–77. Karande, S., & Bhosrekar, K. (2009). Impact of attention-deficit/hyperactivity disorder on health-related

S. Karande quality-of-life of specific learning disability children. Indian Journal of Pediatrics, 76, 1119–1124. Karande, S., & Kulkarni, M. (2005). Specific learning disability: the invisible handicap. Indian Pediatrics, 42, 315–319. Karande, S., & Kulkarni, S. (2009). Quality of life of parents of children with newly diagnosed specific learning disability. Journal of Postgraduate Medicine, 55, 97–103. Karande, S., Mehta, V., Kulkarni, M. (2007). Impact of an education program on parental knowledge of specific learning disability. Indian Journal of Medical Sciences, 61, 398–406. Karande, S., Bhosrekar, K., Kulkarni, M., et al. (2009a). Health-related quality of life of children with newly diagnosed specific learning disability. Journal of Tropical Pediatrics, 55, 160–169. Karande, S., Mahajan, V., Kulkarni, M. (2009b). Recollections of learning-disabled adolescents of their schooling experiences: A qualitative study. Indian Journal of Medical Sciences, 63, 382–391. Karande, S., Kumbhare, N., Kulkarni, M., et al. (2009c). Anxiety levels in mothers of children with specific learning disability. Journal of Postgraduate Medicine, 55, 165–170. Klassen, A. F., Miller, A., Fine, S. (2004). Health-related quality of life in children and adolescents who have a diagnosis of attention-deficit/hyperactivity disorder. Pediatrics, 114, e541–e547. Kulkarni, M., Karande, S., Thadhani, A., et al. (2006). Educational provisions and learning disability. Indian Journal of Pediatrics, 73, 789–793. Landgraf, J. M., Abetz, L., Ware, J. E. (1999). Child health questionnaire (CHQ): A user’s manual. Boston: Health Act. Mannuzza, S., & Klein, R. G. (2000). Long-term prognosis in attention-deficit/hyperactivity disorder. Child Adolescent Psychiatric Clinics of North America, 9, 711–726. Manos, M., Frazier, T. W., Landgraf, J. M., et al. (2009). HRQL and medication satisfaction in children with ADHD treated with the methylphenidate transdermal system. Current Medical Research and Opinion, 25, 3001–3010. Ministry of Social Justice and Empowerment. (1996). The persons with disabilities (equal opportunities, protection of rights and full participation) act, 1995. Ministry of Social Justice and Empowerment. http:// www.socialjustice.nic.in/pwdact1995.php. Accessed 8 Jan 2011. Nijmeijer, J. S., Minderaa, R. B., Buitelaar, J. K., et al. (2008). Attention-deficit/hyperactivity disorder and social dysfunctioning. Clinical Psychology Review, 28, 692–708. Ogdie, M. N., Fisher, S. E., Yang, M., et al. (2004). Attention deficit hyperactivity disorder: fine mapping supports linkage to 5p13, 6q12, 16p13, and 17p11. American Journal of Human Genetics, 75, 661–668. Pagani, L., Tremblay, R. E., Vitaro, F., et al. (2001). Effects of grade retention on academic performance

4 Quality of Life in Children Diagnosed with Specific Learning Disability … and behavioral development. Development and Psychopathology, 13, 297–315. Pelham, W. E., Jr., & Fabiano, G. A. (2000) Behavior modification. Child Adolescent Psychiatric Clinics of North America, 9, 671–688. Power, M., Harper, A., Bullinger, M., et al. (1999). WHOQOL-100: tests of the universality of quality of life in 15 different cultural groups worldwide. Health Psychology, 18, 495–505. Sajatovic, M., & Ramirez, L. F. (2003). Rating scales in mental health. Hudson: Lexi-Comp. Shalev, R. S. (2004). Developmental dyscalculia. Journal of Child Neurology, 19, 765–771. Shaywitz, S. E. (1998). Dyslexia. New England Journal of Medicine, 338, 307–312. Shaywitz, B. A., Fletcher, J. M., Shaywitz, S. E. (1995). Defining and classifying learning disabilities and attention-deficit/hyperactivity disorder. Journal of Child Neurology, 10, S50–S57. Sonuga-Barke, E. J., Daley, D., Thompson, M., et al. (2001). Parent-based therapies for preschool attention-deficit/hyperactivity disorder: a randomized, controlled trial with a community sample. Journal of the American Academy of Child and Adolescent Psychiatry, 40, 402–408. Waxmonsky, J. (2003). Assessment and treatment of attention deficit hyperactivity disorder in children

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with comorbid psychiatric illness. Current Opinion in Pediatrics, 15, 476–482. Wehmeier, P. M., Dittmann, R. W., Schacht, A., et al. (2007). Effectiveness of atomoxetine and quality of life in children with attention-deficit/hyperactivity disorder as perceived by patients, parents, and physicians in an open-label study. Journal of Child Adolescent Psychopharmacology, 17, 813–830. World Health Organization (1993). The international classification of diseases, (Vol. 10): classification of mental and behavioral disorders. Geneva: World Health Organization. World Health Organization (1995) The World Health Organization Quality of Life assessment (WHOQOL): position paper from the World Health Organization. Social Science and Medicine, 41, 1403–1409. World Health Organization (1998). WHOQOL user manual (WHO/MNH/MHP/98.4.Rev.1). Geneva: World Health Organization. Yang, P., Hsu, H. Y., Chiou, S. S., et al. (2007) Healthrelated quality of life in methylphenidate-treated children with attention-deficit-hyperactivity disorder: results from a Taiwanese sample. Australian and New Zealand Journal of Psychiatry, 41, 998–1004.

5

Children and Adolescents with Mobility Limitations Ann I. Alriksson-Schmidt and Judy K. Thibadeau

Abstract

A group of children with special health care needs, those with mobility limitations, is the focus of this chapter. We discuss the impact of mobility limitation in childhood and adolescence among those who were either born with a mobility limiting condition or those who acquired a mobility limitation at a very young age. The purpose of this chapter is to provide an overview of common important concerns and issues in the lives of children growing up with a mobility limitation. Included are related medical issues; potential treatment approaches; developmental transitioning; quality of life, pain, and depression; and finally abuse and the importance of advocacy as it relates to mobility limitation and participation in childhood and adolescence. Throughout the chapter, the normalization of the developmental experience of the child with a mobility limitation is considered and explored. Abbreviations

CDC U.S. Centers for Disease Control and Prevention ICF-CY International Classification of Functioning, Disability and Health, Children and Youth versions WHO World Health Organization WHOQoL World Health Organization Quality of Life measures

A. I. Alriksson-Schmidt () National Center on Birth Defects and Developmental Disability, Division of Human Development and Disability, Centers for Disease Control and Prevention, 1600 Clifton Rd, NE MS E-88, Atlanta, GA 30333, USA e-mail: [email protected] J. K. Thibadeau National Center on Birth Defects and Developmental Disability, Division of Human Development and Disability, Centers for Disease Control and Prevention, 1825 Century Boulevard, Atlanta, GA 30345, USA e-mail: [email protected], [email protected] D. Hollar (ed.), Handbook of Children with Special Health Care Needs, DOI 10.1007/978-1-4614-2335-5_5, © Springer Science+Business Media New York 2012

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5.1 Introduction Children with special health care needs are described as those who have or are at an increased risk for a chronic physical, developmental, behavioral, or emotional condition and who also require health and related services of a type or amount beyond that required by children generally (U.S. Department of Health and Human Services, Health Resources and Services Administration, and Maternal and Child Health Bureau 2004). Among children with special health care needs, some live with mobility limitations. Depending on the cause of the mobility limitation, other functions may also be compromised. For the purpose of this chapter, we focus on the impact or correlates of mobility limitation in children and adolescents with congenital or child-onset conditions, including trauma, and exclude those with diagnosed intellectual disability. The intention of the chapter is to provide an introduction and overview of common important concerns and issues in the lives of children growing up with a mobility limitation. We begin by defining mobility limitation and provide a brief background and rationale for considering children who experience this specific type of functional limitation as a group. We then discuss some related medical issues; potential treatment approaches; developmental transitioning; quality of life, pain, and depression; and end with a brief section on abuse and the importance of advocacy as it relates to mobility limitation and participation in childhood and adolescence. Throughout the chapter, the normalization of the developmental experience of the child with a mobility limitation is considered and explored.

5.2 Definition and Prevalence There is no single, universally accepted definition of what constitutes a mobility limitation. The impact of a mobility limitation may vary throughout the life course; however, by definition, mobility is compromised to some extent. In the 1980s, the World Health Organization (WHO) defined a mobility disability as one which stemmed from

A. I. Alriksson-Schmidt and J. K. Thibadeau

impairments in the muscular or skeletal system resulting in the impediment of locomotion, body disposition, or dexterity (World Health Organization (WHO) 1980). Since then, WHO’s International Classification of Functioning, Disability, and Health Children and Youth Version (ICFCY) has been developed and offers an important and relevant conceptual framework. The ICF-CY allows for a systematic way to document characteristics of health and functioning in children and youth and provides a shared terminology for tracking problems and progress which are relevant early in life, such as functions and structures of the body, activities, participation, and environmental factors (WHO 2007). Mobility, specifically, is defined in the ICF-CY as “moving by changing body positions or location or by transferring from one place to another, by carrying, moving, or manipulating objects, by walking, running, or climbing, and by using various forms of transportation” (WHO 2007, p. 150). Oftentimes a mobility limitation is thought of as a functional limitation that affects older persons, not children and adolescents. However, an important distinction needs to be made between aging into disability and aging with disability (Krahn et al. 2009), and functional and activity limitations in general are relatively common among youth. Seven percent of US children under the age of 12 years, and 9% of US adolescents between the ages 12–17 years, have been reported to experience limitations in usual activities due to one or more chronic conditions (National Center for Health Statistics 2009), and 12.4 in 1,000 school-age children have reported functional limitations in the mobility domain specifically (Msall et al. 2003). Data from the 2000 US Census indicated that one percent of 5–15-year-old noninstitutionalized civilians were reported as having “a condition that substantially limits one or more basic physical activities such as walking, climbing stairs, reaching, lifting, or carrying” (Waldrop and Stern 2003, pp. 1). This percentage is in accordance with other population based survey data measuring “serious difficulty walking or climbing stairs” among children aged 5–17 years in the United States (U.S. Census Bureau 2008). These brief survey items

5 Children and Adolescents with Mobility Limitations

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provide useful yet limited information and likely give an underestimation of how many youth in the United States truly live with a chronic mobility limitation. For example, additional information such as causes and duration of the mobility limitation can generally not be determined. Reliable international estimates of how many children live with disability are difficult to obtain and estimates of how many children live with mobility limitations specifically are even more complicated to calculate. Naturally, many countries have excellent surveillance systems and progressive research agendas, and can and do compute these types of estimates. Other countries lack the resources, infrastructure, or will to do so. Therefore, comparisons across countries on prevalence of disability or certain types of functional limitations are generally very difficult to calculate because of such fundamental differences in concept and methodology.

a specific condition or disorder. A noncategorical research study, in contrast, would include children with different medical diagnoses based on the premise that these children would experience, for instance, similar functional outcomes and psychosocial stressors (Pless and Pinkerton 1975; Wallander and Varni 1998; Wallander et al. 2003). This recognition of individual variability within a medical diagnosis and the potential individual invariability among medical diagnoses is not new (Pless and Pinkerton 1975). Although it should be acknowledged that medical conditions certainly have a central “biomedical uniqueness”, similarities, such as intrusiveness, pain, visibility, frequent doctor appointments and missed days of school, social stigma, and the need of extra family involvement are just some examples of shared experiences that may shape the long-term life experiences of children affected by conditions of different etiologies (Wallander and Varni 1998). Thus, certain overall characteristics associated with having a chronic condition or disability may matter more to a person’s psychosocial adjustment and long-term outcome than specific condition-related variables per se (Lavigne and Faier-Routman 1993). To think of children with certain functional limitations as a group, such as children with mobility limitations for example, is more consistent with the noncategorical framework in that the focus is not on a specific medical condition but on the impact of the limitation in mobility. At the same time, certain constraints and “inclusion criteria” have been imposed such that only those with a certain kind of limitation are included instead of, for example, all children with special health care needs. The debate about which approach is the more theoretically sound and “correct” is beyond the scope of this chapter. Both approaches have demonstrated scientific merits and whom to include or not largely depends on the goals of the research. There is a place and a need for both approaches (Stein 1996). It is fair to say that although a substantial research literature is available on older persons acquiring mobility limitations, there is a lack of research on children and adolescents with mobility limitations specifically (Jemtå et al. 2005; Alriks-

5.3 Theoretical Perspectives— Condition or Function? The causes of early-onset mobility limitations are many and varied: Congenital conditions, conditions diagnosed in early childhood, and trauma encompass the most common types. Spina bifida, cerebral palsy, juvenile rheumatoid arthritis, neuromuscular disease, different types of skeletal/ joint diagnoses, and peripheral nerve disease represent some of the most common conditions. Traumatic injuries such as spinal cord injury may also result in chronic mobility limitations. Consequently, children with mobility limitations are quite heterogeneous as a group in terms of etiology. From a research perspective, a definition of the study population is important so that subsequent study findings can be interpreted appropriately. Broadly simplified, two methodological approaches can be discerned in the research of youth affected by certain types of functional limitations. These approaches are referred to as categorical (list-based or condition specific; Perrin et al. 1993) and noncategorical (functional or generic; Ireys 2001). In this context, a categorical research study would include children with

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son-Schmidt et al. 2007). Clearly, the ramifications of growing up with a mobility limitation are quite different from acquiring them at an older age. For example, having a child with a chronic condition can result in unremitting stress on the entire family which is frequently compounded by multiple surgeries (Vermaes et al. 2008). Collectively, however, children with a mobility limitation tend to have experiences that are even more similar in nature than the more broadly defined category of children with special health care needs because they all live with some level of impeded locomotion. Most parents can vividly remember when their child first started crawling, standing, and walking. Such gross motor developmental milestones may not occur in the same manner, at the same rate, or at all, in children with early-onset mobility limitations. Furthermore, mobility limitations, as opposed to, for example, the respiratory restrictions experienced by a child with asthma, are usually visible and distinguish the child from her peers because of a gait that may be different from the norm or because of the use of assistive devices, such as braces or a wheelchair, which may be required. To not be able or allowed to participate in activities or events because of restricted accessibility or attitudes by others likely affects a child with cerebral palsy in a similar manner as it would a child with spina bifida or spinal cord injury. Differential treatment from others whether it is intended or not, well-meant or not, may affect children with mobility limitations in a similar manner irrespective of the etiology of their conditions. We believe that the commonalities among children living with a mobility limitation warrant the consideration of them as a group while at the same time realizing that there are important condition-specific variables that, at times, cannot be overlooked. This chapter draws on both categorical and noncategorical empirical research. We distinguish the source of the information whether from a study focusing on one specific mobility limiting condition or not. Many and varied factors contribute to a child’s response and adjustment to living with a mobility limitation. To predict how any individual child with a mobility limitation will adapt is compli-


cated and complex to say the least. As an example, psychologically, the child with an acquired mobility limitation may respond differently from the child with the mobility limitation from birth in that there may be a sense of loss, grief, and a feeling of lost identity (Jemtå et al. 2005) that is, applicable (to the child) with the acquired mobility limitation. Wallander and Varni (1998) outlined in their “Conceptual Model of Adjustment to Pediatric Chronic Physical Disorders” pertinent categories of risk or resistance factors that also have relevance when considering children with a mobility limitation specifically. These factors include Disease/Disability (e.g., severity, visibility, diagnosis); Functional Independence (e.g., ambulation, communication); Psychosocial Stress (e.g., major life events, daily hassles); Personal Factors (e.g., temperament, competence, problem-solving ability); Stress Processing (e.g., coping strategies); and Social-Ecological Factors (e.g., family environment, social support). These factors are not dissimilar to those in the ICF framework and are of interest in terms of how an individual transitions in life to become a participating and content person in her society.

5.4 Associated Medical Conditions While the life expectancy of children with conditions such as spina bifida, cerebral palsy, and other neurological diagnoses has increased dramatically, their lives are often fraught with secondary conditions or comorbidities, the effects of which may be more severe than the primary condition (Simeonsson et al. 2002). Secondary conditions have been defined using four criteria. First, a secondary condition is a direct consequence of a primary condition. Second, the secondary condition reflects the effects of the interaction of the person with her environment, the primary condition serving as a risk factor but not sufficient to account singly for the occurrence of the secondary condition. For example, having a mobility limitation puts a child at risk for obesity that may be realized due to the environmental inaccessibility of physical activities at school and in the community. The third criterion to describe secondary


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conditions is that the variation in the nature and extent of the expression of secondary conditions is related to several factors including the age or developmental stage of the individual: Some secondary conditions are observed in childhood and others will be more likely observed in adulthood. The fourth and final criterion is the role that individual traits and characteristics play in mediating the impact of the secondary condition such as motivation and behavioral style (Simeonsson et al. 2002). In terms of spina bifida and cerebral palsy, the majority of children with spina bifida experience, in addition to orthopedic concerns, urinary tract infections, and differing levels of bowel and bladder incontinence. Children with cerebral palsy often live with spasticity and pain. Children with a mobility limitation who use a wheelchair or other assistive device as their form of mobility or who are not fully weight-bearing are at increased risk for certain other medical concerns such as pressure sores, joint overuse, osteoporosis, contractures, and possibly obesity. The necessary use of assistive devices for the development of independence and social participation for those with a mobility limitation necessitates a look at the potential secondary conditions that may occur so that the impact may be minimized.

approach is applauded for the maintenance of physical strength and for the benefits of energy expenditure. An approach that considers the values of mobility appropriate for a particular situation, that is, keeping up with peers, navigating rough terrain, maintenance of joint health, and the long term social and physical effects should also be considered for children with a mobility limitation. Wheel chair propulsion is mechanically inefficient and may result in the overuse injury of joints (Rodgers et al. 2001). Quality of life, physical performance, and independence may be limited by the pain of joint injuries. Wheel chair use training and a strengthening program specific to the muscles for wheelchair propulsion may improve strength and endurance while protecting the shoulder and elbow joints (Rodgers et al. 2001). There are a number of different recommendations in terms of how to accomplish ambulation and at times, these recommendations differ. Based on research of children with spina bifida, Liptak et al. (1992) recommend a combined approach that includes wheeled mobility and the use of devices that facilitate upright positioning. Overall, the consideration of the desires of the family and a thorough evaluation of the child’s mobility status within the family setting and the community speaks to the value of a multidisciplinary team of health care professionals to guide the decisions regarding the manner of mobility.

5.4.1 Joint Overuse or Misuse As a general rule, children with a mobility limitation should progress through the expected motor milestones that include sitting, pulling to stand, and walking at the expected ages (Szalay 1987). The goal for the young child may be to ambulate while ambulation is effective, and, for the older child, to be mobile, which may entail the use of a wheelchair. The introduction of the use of the upper body to provide the thrust for mobility includes the necessity to consider the impact on the shoulders and elbows of this repeated motion and the potential for joint overuse. Individuals with mobility limitations will frequently experience symptoms of joint overuse and/or misuse. A therapeutic tenet for mobility is upright and manual movement for as long as possible. This

5.4.2 Insensate Skin and Pressure Sores Pressure sores (i.e., decubitus ulcers) are a serious and costly secondary condition that must be brought to the attention of families early in the lives of their children who have insensate skin and mobility limitations. There is a compulsory need for the lifelong and vigilant management of the skin among those affected by insensate skin. Skin breakdown from pressure, hot liquids, and sun exposure is a frequent and costly occurrence for children who spend a significant amount of their days in wheelchairs or for those with insensate skin (Okamoto et al. 1983). In a

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study of individuals with spina bifida ranging in age from 2–31 years, Harris and Banta (1990) reported on the incidence of skin breakdown and room and board hospital costs. The 75 patients in the study group accumulated 6,237 hospital days for skin care alone during the 13 years of the study and the average length of hospitalization was 31 days. The average length of hospitalization decreased over time for the study group while the number of admissions and the number of operative procedures per year increased. Okamoto et al. (1983) reported on an analysis of 524 patients with spina bifida seen between the years of 1960 and 1980. Forty-three percent of the patients had skin breakdown recorded in their medical record at least once on annual evaluation. The observations included breakdown from pressure; abrasions due to casts, orthoses, or shoes; lacerations, burns, infection; and severe dermatitis. The prevalence of skin breakdown increased steadily from infancy to age 10 years. After 10 years, the rate of skin breakdown documented in this analysis ranged from 20 to 25% (Okamoto et al. 1983). The avoidance of the development of pressure sores must be a priority and parents should be instructed early in their child’s life regarding the details of skin inspection including all areas where constant pressure or friction may occur. Children should be included in this effort at an early age as the care of the skin is a lifetime affair for persons with skin insensitivity and who use devices that may result in constant pressure or friction on certain areas of the body.

5.4.3 Osteoporosis and Fractures Osteoporosis is defined by the WHO as a condition that includes low bone mass and the microarchitectural deterioration of bone with a consequent increase in bone fragility and a susceptibility to fracture (World Health Organization 1994). Osteoporosis in children may be primary or secondary depending on the condition with which the bone density loss is associated. Primary osteoporosis is typically due to an intrinsic bone abnormality, usually genetic in origin. Secondary osteoporosis is due to an underlying medical


condition or its treatment (Shaw 2008). Reduced mobility is one of the factors that may adversely affect the bone development of a child and increase the risks of the development of osteoporotic fractures (Shaw 2008). In various studies (Apkon et al. 2008; Quan et al. 1998; Wilmshurst et al. 1996), children with spina bifida and cerebral palsy have been reported to be at increased risk of a decreased bone mineral density level and at increased risk for fractures. In adults, osteoporosis is usually defined based on bone density assessment; however it is not possible to define osteoporosis in children on the basis of bone density measurements alone (Shaw 2008). The International Society for Clinical Densitometry recommends that the diagnosis of osteoporosis in children should not be made on the basis of bone density criteria alone but associated with the presence of a clinically significant fracture history (The International Society for Clinical Densitometry 2007). Osteoporosis exists in children with mobility limitations to varying degrees. Future research is needed to define more accurately preventive steps to be taken to minimize bone mineral density loss when there is a reduction in muscle use and active weight bearing, and treatment when the bone is weakened.

5.4.4 Contractures Contractures limit the mobility of joints and therefore affect the life of the individual (Farmer and James 2001). In neuromuscular conditions, immobilization, muscle weakness or paralysis, and spasticity are the main factors that result in contractures (Farmer and James 2001). Treatment modalities include stretching, serial plastering, splinting, botulinum toxin injections, electrical stimulation, and surgery. The treatment must be individualized to the situation and the positive and negative effects considered (Farmer and James 2001). Youth who do not ambulate or who ambulate minimally are at greatest risk for contractures (Agre et al. 1987). Habitual sitting results in flexion contractures and those who do sit habitually can benefit from stretching exercises (Agre et al. 1987).


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Contractures experienced by children with cerebral palsy affect posture and function, cause pain and affect different and important aspects of life. Sitting for long periods can result in tight hamstrings which affect the back and thus the sitting posture of the individual. Adequate hamstring length is necessary for people with cerebral palsy to stand upright which is the position usually assumed when transferring from the wheelchair to other surfaces. The inability to stand upright creates challenges for the individual and for the person assisting in activities of daily living. An abnormal sitting posture may affect one’s independence in the performance of activities of daily living as well as social participation. Avoiding immobility may contribute to the prevention of contractures. Participating in programs that include stretching and flexibility such as yoga and tai chi, swimming, or formal stretching therapy is believed to help to maintain joint range of motion and thus minimize the development of contractures (Ayyangar 2002). Secondary orthopedic conditions, such as contractures, occur in children with spina bifida because of abnormal muscle function around joints and decreased mobility particularly. Joint contractures and deformities of the lower extremities occur commonly and include club foot, calcaneus, and other deformities of the ankle, and foot, hip, and knee. These joint deformities may be present at birth or may occur with age. They may occur in joints with uneven muscle pull or in joints where all the muscles are paralyzed and the mode of mobility is the wheel chair (Liptak 2003). Regardless of the specific location of a contracture or deformity the goals of management for children with spina bifida include: the maintenance of alignment of the extremities and joints, the maximization of range of motion, the stabilization of the spine and extremities, maximized function, freedom from pain and discomfort, and protection of the skin (Liptak 2003).

obesity, utilizing a height/weight ratio is frequently criticized (Ayyangar 2002). Some use an arm span measure instead of “height”. Health habits of diet and physical activity must be introduced at an early age for persons with mobility limiting conditions as for all the population. A reduction of caloric intake is highly recommended before the need for a weight loss program has been realized. In a study of 110 individuals with spina bifida, those greater than 4 years of age had a body mass comprised of more fat than lean mass (Roberts et al. 1991). Furthermore, the percentage of body fat in children affected by spina bifida increases with age and with decreasing ambulatory activity. As a way of monitoring for the development of obesity, it is recommended that regular measures of body composition be taken to include: weight, supine length, arm span, and skin folds (biceps, triceps, subscapular, and suprailliac; Roberts et al. 1991). Grogan and Ekvall (1999) recruited children with spina bifida and a control group to participate in a small study on obesity. Body composition of the subjects was measured including potassium content, urinary creatinine, and anthropometry measurements at the beginning of the study period and again at 6 months. Dietary and physical activity goals were taken from the patients after discussion of the goals with the family. Lean body mass in children with spina bifida was ~50% that of the control group. Thorax and abdominal skinfolds and waist measurement correlated with the body fat percentage. Subscapular skinfold measurements correlated poorly with the percentage of fat. The caloric intake requirement to maintain adequate growth of a child with spina bifida was found to be ~50% of the daily recommended allowance for a child without spina bifida of the same age. Changes in lean body mass were observed in children with spina bifida who increased physical activity over the 6-month period, more than in those who reduced caloric intake alone, though not significantly. Therefore, beginning at infancy, since physical activity increases lean body mass or active muscle tissue and thus caloric requirements, exercise such as swimming and self movement may be a contributing factor in the avoidance of childhood obesity. As a child

5.4.5 Obesity Any condition that is associated with reduced physical activity is associated with a risk of obesity (Ayyangar 2002). The method to calculate

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ages and activity oriented developmental milestones are anticipated such as crawling and walking, activity levels for the child with mobility limitations should be increased. Waist measurements may be taken at home and serve as a self measure of weight monitoring and maintenance (Grogan and Ekvall 1999). In a study of 62 adults with spinal cord injury of at least 12-month duration, (Stevens et al. 2008), the level of physical activity significantly predicted quality of life when injury level, time since injury, and completeness of injury were controlled. Encouragement by parents and health care professionals for significant levels of physical activity in children with physical disabilities is important both from the perspective of quality of life and the relationship of physical activity to the management of obesity (Dosa et al. 2009).

5.5 Treatment Philosophies and Approaches In addition to potential surgery, most children with a mobility limitation undergo some type of treatment to improve their function and mobility. This treatment is often supervised by a physical or occupational therapist either working as part of a larger multidisciplinary team or independently with the family. Many clinics have or are in the process of adopting a family-centered service which is based on the premise that parents know their children best. The principles underlying a family-centered philosophy acknowledge that families are different and unique and that the functioning of the child is best achieved within the context of a supportive family and community (Law et al. 2007). A therapist in this context is considered to be one of many valuable collaborators in the child’s care and not necessarily the authority when it comes to knowing what is best and appropriate for the child. Focusing on the goals of the child as expressed by the family in conjunction with the professionals involved with the child’s care can result in an environment that can identify functional goals at the level of activity and participation rather than exclusively at the level of impairment. This approach facilitates


an exploration of all treatment options including changes in the task and in the environment so that the best results can be achieved. This approach differs from, for example, a more traditional neurodevelopmental treatment approach which is an often used treatment technique in the United States to treat children with mobilitylimiting conditions, such as cerebral palsy. In simple words, the therapists working from a neurodevelopmental point of view focus on inhibiting abnormal posture and movement to improve the child’s quality and efficiency of movement by encouraging typical patterns of movement. The underlying assumption being that typical patterns of movement will lead to functional improvements and reduce activity limitations and increase participation. It has been suggested that by using this approach, the therapist may not explore all options for functional and long-term success (Law et al. 2007) and that compensatory movements and environmental adaptations may be more efficient solutions for motor challenges faced by children with mobility limitations. An important issue for children with a mobility limitation is that of walking versus use of another compensatory means for mobility. The question of whether, when, for how long to ambulate, and for whom ambulation is an appropriate goal is an issue evoking many varying views (e.g., Shurtleff 1986; Mazur et al. 1989). Conventionally in childhood, ambulation, whatever the time cost and strain involved, has been the ultimate goal. Along those lines, there has traditionally been some resistance to the use of assistive technology among children (Henderson et al. 2008). Among parents and clinicians alike there are differing views about the pros and cons of using powered, manual, or no wheelchair at all. In adolescence, mobility and keeping pace with peers is central to participation in life, and minimizing differences, and integrating therapies with the social needs, and interests of the adolescent. Overall, remediation techniques target a problem at the level of impairment; adaptation involves modifications to the environment to facilitate access; and compensation involves the use of assistive devices to circumvent the functional impairment (Henderson et al. 2008). A change has been noted among


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therapists and other professionals straying from a focus of using remediation techniques toward the newer approach of making use of adaptations or compensations. No one solution will fit every child or family. Thus, many variables need to be taken into account when a decision is made whether and when a child is encouraged to use a wheelchair. The wish of the child also needs to be considered.

realize participation through involvement in age appropriate situations. However, as a mobility limitation may challenge certain aspects of typical development, the timely consideration and monitoring of developmental milestones from infancy and throughout adolescence is particularly important. Domains that may warrant extra attention when a key life function such as mobility is impaired include: health and condition self management (if applicable); physical activity and nutrition; relationships with family and friends; learning and the school experience; and eventually, preparation for employment (e.g., Thibadeau et al. 2010). These specific domains were considered to be of particular importance for children with spina bifida as determined by the National Spina Bifida Program at Centers for Disease Control and Prevention (CDC) in close collaboration with a group of recognized national experts on spina bifida. In general, these domains are also relevant to children who are affected by other childhood onset complex disabling conditions with or without motor impairment. Health, self management, relationships with family and friends, learning and the active engagement in a productive adult role all contribute to the ability of a person to participate successfully in living as an adult (Lollar 2010). The presence of a mobility limitation, however, can result in less focus on or a changed expectation of usual development. For example, if the mobility limitation is brought on by a complex underlying condition, competing medical issues may supersede the basics of child development and care. Consequently, the healthcare professionals may be occupied with the immediate and at times critical medical needs of the child. Families, in turn, may be preoccupied with the additional issues that demand immediate attention and require a continuous and sometimes draining effort on their parts. Therefore, the close support and continuous monitoring by a developmentally trained primary care health care professional (or other appropriate discipline) whose main role is to attend to the usual child development issues can be very valuable. Explicitly addressing the developmental issues that are impacted early on and working with families and support systems to

5.6 Developmental Transition All children benefit from growing up in safe, stable, and loving conditions with—at a minimum—their basic developmental needs fulfilled. This is also the case, of course, for the child who has a chronic mobility limitation. Further, the essentials and importance of a child’s development that facilitates the achievement of independence, self sufficiency, and a satisfactory quality of living throughout life cannot be overemphasized. When a child is growing up with a compromised mobility, the focus needs to be on the child as a child first and as a child with a mobility limitation (and possibly a complex medical condition) second. Every child should have the opportunity to experience life in ways that are respectful of the individual, promote self reliance, and facilitate active participation in the community (Office of the United Nations High Commissioner for Human Rights 1990). The UN Convention on Rights of Persons with Disabilities (United Nations Enable 2006) underscores the importance for children with disabilities to play, participate in sports activities and cultural events, including those in the school system. Furthermore, the child must be viewed in the context of the family system, especially in the developmental phases of childhood when family interactions have the greatest influence.

5.6.1 Development The attainment of the usual developmental milestones should be considered from birth and consistently throughout the life course in order to

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facilitate typical development related to mobility will set the stage for a timely gradual transfer of responsibility for self from parent to the adolescent and later young adult. This process must be ongoing, beginning early in the life of the child with the appropriate support and guidance of professionals. Using the ICF as a framework can be helpful in this process. A milestone that is affected by a mobility limitation is the development of motor skills in early childhood (with the exception of an acquired mobility limitation later in childhood). Self-produced locomotion in the young child is the primary vehicle for exploration, learning, socialization, and contributes to independence and feelings of self-confidence (Butler et al. 1983). The first several years of life constitute the time when the urge to move becomes dominant and when rapid movement becomes an important vehicle for learning and coping with the outside world (McDermott and Akina 1972). This is also the time when children want to do things for themselves, and when physical ability is essential for the development of independence and autonomy. Mobility is associated with the development of cognitive and perceptual skills related to the independent movement of a child in her environment and the need to negotiate obstacles and find her way. In a small longitudinal study regarding the role that active self-produced movement plays in infants’ spatial orientation, it was concluded that at 12 months, the infants who moved on their own were more likely to orient spatially. The study authors suggested that children who moved on their own seemed to be more attentive to their environment (Acredolo et al. 1984). The point has been made, however, that what is important is mobility and not necessarily ambulation (Shurtleff 1986). Shurtleff (1986) defined effective mobility as the effective and efficient moving about that allows a person to go easily from one place to another, explore the environment, and independently pursue interests and work throughout life. Movement with the goal of independently managing one’s life responsibilities and exploring one’s environment is more important than walking in an upright position (Shurtleff 1980).


It is also important for the growing child to develop self-esteem. Self-esteem, in simple term, refers to a person’s belief of his or her worth or value as a person (Shields et al. 2007). Researchers have been interested in understanding whether youth with a disability have lower levels of self-esteem compared to their peers. In a small study on youth (ages 9–18 years) with cerebral palsy, scores of self-esteem measures were comparable to norm samples of adolescents without a disability. Overall, girls, and those perceiving a greater impact of the disability, reported lower scores on self-esteem (Manuel et al. 2003). Canadian adolescents with a variety of mobility limiting physical conditions (e.g., spina bifida, adolescents with amputation, cerebral palsy, muscular dystrophy, juvenile rheumatoid arthritis, arthrogryposis) reported good self-esteem, strong family relationships, and as many close friends as adolescents in the national sample (Stevens et al. 1996). However, the adolescents with a physical disability reported that they participated in significantly fewer social activities and had less intimate relationships with their friends. Having an acquired mobility limitation and the presence of pain were related to lower levels of self-esteem in a Swedish study of children and adolescents with mobility impairment (Jemtå et al. 2009). Another area of development that warrants special mention is sexual development. Disabilities acquired early may affect sexual development in terms of gender roles, sexual language, privacy, and self-exploration and may possibly be related to whether or not sex education is received. A child with a disability or limitation may experience limitation in opportunities to explore their bodies in naturally occurring private moments (Cole and Cole 1993). It has been suggested that such a lack of privacy “can affect a child’s perception of his or her body, its function, and personal boundaries regarding appropriate or inappropriate touch” (Cole and Cole 1993, p. 191). Learning about sex generally occurs both formally and informally. The informal learning comes in part from young people interacting together, opportunities that may be limited for children with physical disabilities. Limited social interaction may place a child’s sexual development at


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risk (Neufeld et al. 2002). Furthermore, touch is a major element in human development, a sensory experience that is complicated for children with disabilities because of the potential need for assistance with movement or positioning. Children with chronic childhood conditions may experience more “handling” for assistance than that for cuddling and tenderness. Health care professionals also frequently display insensitivity to the personal boundaries of children for whom they are caring by not negotiating the privacy of the child and demonstrating respect and consideration for her. Furthermore, the ways in which children learn about their bodies may be different for those with a disability due to sensory limitations, lack of privacy, the need for assistance, and possibly by the discouragement of these activities by others. Sexual education must be very intentional in providing the means for the healthy sexual development of children with early onset physical disabilities. The lack of basic sex education and information makes a sexually active young person vulnerable to sexually transmitted diseases and unwanted pregnancy. The availability of pregnancy prevention information and recommendations regarding the avoidance of sexually transmitted diseases should be made available for all persons including those with disabilities (Cole and Cole 1993). Some researchers have indicated that there is a disparity between adolescents with physical disabilities and their peers without physical disabilities in terms of receiving sexual education. For example, based on a nationally representative survey in Canada, the majority of adolescents with physical disabilities reported that they had not received information on parenthood, birth control, and sexually transmitted diseases (Stevens et al. 1996). This finding, however, stands in contrast with other research findings on sexual behaviors among US adolescents. Investigating sexual behaviors using a nationally representative survey sample, adolescents with a physical disability (primarily limb deficiency) experienced pubertal development later and were more socially isolated than those adolescents who did not report a physical disability. Nevertheless, it was also found that

the adolescents with a physical disability were as sexually experienced and had received as much sexual education as their counterparts without a physical disability (Cheng and Udry 2002).

5.6.2 Environment The section on development places a strong emphasis on “person” factors. Functional performance and participation in society is, of course, the result of the dynamic interaction of many factors, certainly not just those associated with the impairment of the child. The social model of disability (as opposed to the medical model) suggests that it is the social, attitudinal, and physical environments that create problems and prevent people with disabilities from participating in society (e.g., Lawlor et al. 2006; Oliver 1996). In a British qualitative study addressing physical, social, and attitudinal environmental barriers and facilitators of participation in children with cerebral palsy, certain overarching themes emerged (Lawlor et al. 2006). Barriers were reported in regards to mobility (e.g., steps, lack of lifts, poor path surfacing), transport (e.g., lack of suitable parking spaces, lack of physical access to public transportation), support by (or lack of) and to parents, attitudes of individuals (e.g., staring and patronizing attitudes of strangers) and services (e.g., poor institutional attitudes; Lawlor et al. 2006). Emerging themes in terms of facilitators included an adapted home environment, respite care for parents, equipment and structural adaptations, and parental promotion of the child’s independence (Lawlor et al. 2006). Lack of accessibility can result in social isolation, participation in passive activities such as computer games, and watching other children play (Prellwitz and Skär 2006) as opposed to actively participating. In a Swedish study of children and adolescents with mobility limiting conditions, the majority perceived that they had relatively good accessibility in their homes but worse accessibility outside of the home. An important distinction between accessibility and usability was made (Prellwitz and Skär 2006). Although a child may be able to enter the kitchen in a wheelchair with little problem

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(i.e., accessibility), she may not be able to reach or use the equipment in the kitchen and therefore would still be limited in performing the activities by herself (i.e., usability). Both accessibility and usability need to be addressed in order to facilitate participation.

5.6.3 Family and Parenting Being a parent comes with challenges, yet at most times raising a child is extremely rewarding. Raising a child with a mobility limitation will require additional efforts on the part of the parents not only in terms of attention to be paid to extra medical care and interventions but also in the planning for the child to be involved in age-appropriate activities and the fostering of age-appropriate independence. How parents (and siblings) react to having a child with a mobility limitation varies widely. Although at face value it would seem to be more stressful to raise a child with a chronic condition, whether it affects mobility function or not, this is not always what families report. In a Dutch study of children with spina bifida and their parents, mothers, in particular, reported higher levels of stress than did parents of children without spina bifida (Vermaes et al. 2008). In addition, mothers reported feeling less competent. Certain traits, such as extraversion (mother) and emotional stability and agreeableness (father) were associated with lower levels of parenting stress (Vermaes et al. 2008). Overall, parental personality traits were more predictive of parenting stress than were the child’s physical dysfunctions. It is important for parents of children with a mobility limitation to expect, plan, and prepare from an early start for their child to have an adult life with independence, social relationships, participation, and a meaningful way to participate in adult life. At times, such extra planning may not be indicated and the child with a mobility limitation may prosper without receiving special consideration. However, more often than not, such intentional early planning will benefit the child. Part of this planning includes finding activities that are appealing and challenging, yet achiev-


able, in order to set the child up for success. Like any child, a child with a mobility limitation needs to be exposed to different types of activities with realistic expectations of the child’s ability to participate. Many times, adaptation of the surroundings may facilitate the accomplishment of a desired activity. Open communication, goal setting, tracking progress, and modifying the environment as needed may be helpful to any person trying to accomplish what they set out to do. It can be challenging for parents to strike a balance between providing support that is truly needed while at the same time not impeding the child’s development towards age-appropriate independence. If the mobility limitation is caused by a serious underlying condition such as spina bifida, the parents’ close monitoring, advocacy, and care coordination will be vital. It may then be difficult to know when and how to let go of some of the responsibilities. Independence and self sufficiency may not occur however for a child with a mobility limitation without expectation, planning, and taking the necessary steps to facilitate progress in these areas. The parents and the child will need support in the transfer of appropriate amounts and kinds of responsibilities with the realization that although progress will occur, at times temporary setbacks are also likely to happen. When asking a group of adolescents and young adults with spina bifida and cerebral palsy about their parents, roughly a quarter of the adolescents with spina bifida and one-third of the adolescents with cerebral palsy perceived their parents to be what was labeled as “overprotective”. This “over protectiveness” was described as excessive assistance, the recommendation of the avoidance of activities, constant vigilance, and constant reminders to complete the self-care activities (Blum et al. 1991). In addition, virtually no adolescent-parent conflict was noted and the vast majority of adolescents reported parental closeness (Blum et al. 1991). This finding of low levels of parent-adolescent conflict has been replicated in more recent studies on children with spina bifida (e.g., Jandasek et al. 2009) and strong family relationships have been noted in studies of children with different types of physical disabilities (e.g., Stevens et al. 1996). Parents


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of adolescents with spina bifida acknowledged, in a separate study, the difficult balancing act of wanting to protect and keep their adolescents safe with the perceived need to “push” or guide the adolescent towards independence (Sawin et al. 2003). Other research reports also suggest that children with spina bifida were more likely to be “over protected” than the children in a control group who did not have spina bifida. The child’s cognitive ability served as a mediator. Across groups, mothers were more likely to be considered overprotective than the fathers (Holmbeck et al. 2002). This likely has to do with the fact that the mother in the majority of families still is the person in charge of care and child rearing. In a Canadian study of adolescents with physical disabilities, 68% reported that they felt overprotected (Stevens et al. 1996). Clearly, not all parents with children and adolescents with a mobility limitation struggle with the balancing act of providing appropriate and needed amounts of support. However, parents themselves may benefit from ongoing support to foster these changes in parenting that allow for the achievement of typical developmental goals of adolescence on the heels of a child that has required extraordinary care since birth or early childhood.

outcome—if not the ultimate goal. It should be noted however that data do not necessarily support a direct relationship between objective measures of participation and subjective well-being (van Campen and Iedema 2007). Although most would agree that quality of life is important, fewer agree on what quality of life actually is. Some version of WHO’s definition of quality of life is frequently used and it pinpoints the importance of individual perception, context of culture and value system, and goals, expectations, and concerns (WHOQoL Group 1993). Overall, there are two schools of thought in terms of quality of life; health-related and overall/generic quality of life (e.g., Wallander and Varni 1998; Waters et al. 2009). Many measures of quality of life include both subjective and objective components. Subjective factors may measure, for example, satisfaction with life as opposed to objective factors which pertain to more factual information about one’s life (Alriksson-Schmidt et al. 2007). Common domains in pediatric measures of quality of life are emotions, medical treatments, social interactions, cognition, activities, family, school, pain, independence/autonomy, future, leisure, behavior, and body image (Davis et al. 2006). It has been suggested that function not be included in measures of quality of life as “it is not possible to estimate a patient’s distress by accumulating their range of problems” (Waters et al. 2009, p. 662). There is no consensus of how children with mobility limitations fare in terms of quality of life or well-being which is not surprising in light of the fact that quality of life is a multifaceted construct comprised of many differently measured domains. Researchers, clinicians, and the general public have traditionally assumed that persons with disabilities unquestionably experience poor quality of life. However, such an assumption cannot be taken for granted. Many individuals living with disabilities do not share this opinion and results from research often reflect this. This phenomenon is sometimes referred to as the disability paradox (Albrecht and Devlieger 1999). In a Taiwanese study of adolescents with a physical disability which primarily impeded motor or locomotion skills, no significant differences were found on objective measures of qual-

5.7 Quality of Life, Pain and Depression In addition to the medical conditions that are more likely to occur among children with a mobility limitation, it is important to also consider other nonphysical domains that may possibly be affected. It needs to be reiterated that though, on average, children with a mobility limitation are at increased risk of experiencing certain secondary conditions, having a disability does not equal having poor health (e.g., Krahn et al. 2009). As an example, research with adults with spinal cord injury indicated that being able to walk and climb did not predict self-rated health and “what appears important is the ability to carry out one’s roles regardless of how that is, accomplished” (Krahn et al. 2009, p. 582). Furthermore, participation in society is often viewed as a desirable

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ity of life. In fact, the adolescents with a physical disability reported higher scores on subjective measures of quality of life compared to the control group of adolescents without a physical disability (Jau-Hong et al. 2009). An age effect was noted however, and there was a drop in quality of life scores among older adolescents in the group of adolescents with a physical disability, a drop that was not noted in the control group (Jau-Hong et al. 2009). Researchers found that the majority of a group of Swedish adolescents with primarily congenital mobility limitations reported relatively high scores on a measure of well-being. On average, the adolescents who reported lower scores were more likely to be older, live with a single parent, be a first-generation immigrant, experience pain, and have acquired mobility limitations. Type of medical diagnosis, the presence of additional conditions or disabilities, level of motor capacity, or independence in activities of daily living were not significantly related to reported level of well-being (Jemtå et al. 2005). Among children and adolescents with ambulatory cerebral palsy, physical function or age of the child were not significantly related to psychosocial well-being as reported by parents. Nevertheless, when the study scores were compared to normative data, the children and adolescents with cerebral palsy scored significantly lower on psychosocial well-being (Pirpiris et al. 2006). A high level of variability was found in scores of quality of life in a group of school-aged children with cerebral palsy in a separate study (Majnemer et al. 2007). Activity limitations, including motor, activities of daily living, communication, and socialization were associated with physical but not psychosocial well-being, whereas behavioral difficulties were associated with psychosocial well-being. Demographic variables such as age, gender, and family income were not associated with quality of life and high parental stress and poor family coping were negatively associated with child quality of life (Majnemer et al. 2007). Among adults with spinal cord injury, level of physical activity has been more strongly associated with quality of life than anatomical level of the injury, the completeness of the injury, and time since injury (Stevens et al. 2008).


Another important domain to consider when considering quality of life is pain. Pain is often reported among youth overall (Gold et al. 2009), however, those with mobility limitations appear to be at an increased risk of experiencing pain (Berrin et al. 2007; Jemtå et al. 2005). The lack of research on youth with mobility limitations in general is apparent in terms of studies on pain as well—by far, most pain research has been conducted with adults. Although the pain experience in youth is likely different from that of adults, valuable information can still be gleaned from research on pain in the adult population. Among Norwegian adults with cerebral palsy, one-third reported experiencing chronic pain compared to about 15% of the general Norwegian population (Jahnsen et al. 2004). Pain is also a significant predicament for children with cerebral palsy (Roscigno 2002; Russo et al. 2008) and in children with other mobility-limiting conditions. The majority of the adolescents in Jemtå et al. (2005) study on well-being among Swedish adolescents with mobility limitations reported pain. These results are in concurrence with those from a study on youth with spina bifida, of whom 56% reported experiencing pain at least once a week (Clancy et al. 2005). Unresolved pain has many direct or indirect negative consequences and has been correlated with, for instance, a lag in school progress and independence, and less school and peer group involvement (Eccleston et al. 2008) and it has been found to increase the risk of depression (Bair et al. 2003) and lower levels of quality of life and self-perception (Russo et al. 2008). Pain can produce feelings of vulnerability and fear and has been described as a “lonely experience” (Albrecht and Devlieger 1999). Fatigue, often highly correlated with pain, may result in the child needing to rest and being less willing or interested in participating in activities (Gold et al. 2009). Pain being indirectly related to less participation is a finding of significance. Mobility limitations already pose a threat to participation because of other factors such as inaccessibility (Prellwitz and Skär 2006) and possibly stigma. Pain may present one additional barrier in terms of participation among adolescents with a mobility limitation.


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That youth with a mobility limitations should be at higher risk of depression has not been consistently validated. Additional factors in a child’s life may be more predictive of depression than the presence of a mobility limitation per se. It is known, for example, that females are at a higher risk of depression than are males. Populationbased studies have shown that starting at about age 15, females experience rates of depressive symptomatology and clinical depression that are about twice as high as males (Galambos et al. 2004; Hankin et al. 1998; Poulin et al. 2005). Higher levels of depressive symptomatology are often reported by adults with physical disabilities however (Coyle et al. 2000; Hughes et al. 2005). Similarly, a metaanalysis showed an increased risk of internalizing and other psychological adjustment problems in adolescents with different physical conditions (Lavigne and Faier-Routman 1993). British researchers found no difference on self-reported depression, anxiety, and behavior scores between 7 and 18-year-old youth with juvenile idiopathic arthritis and the norm group (Ding et al. 2008). More severe physical disability was associated with poor psychological outcome (Ding et al. 2008).

toileting and bathing may result in confusion in what is appropriate touching and care and what may be considered abusive. Parents need to be made aware of this potential threat. This may enhance efforts to prevent/educate about sexual abuse and possibly decrease the likelihood that abuse will occur. No one grows up in a vacuum and the importance of the physical surroundings and societal attitudes to which a person is exposed are second to none. Throughout the life of a child with a mobility limitation, the vigilant watchfulness by parents regarding their child’s participation in usual childhood opportunities such as play; access to places and events; school experiences (learning, sports, relationships, field trips); out of school relationships and exploration of interests; independence in adolescence: mobility, relationships, and career explorations must be encouraged and an effective approach to advocacy developed. It is unfortunately the rule rather than the exception that children with a mobility limitation will at some time in their lives experience barriers to participation in a desired or necessary activity. As the child becomes older, what was originally a role for parental advocacy will shift and become self-advocacy on the part of the person with a mobility limitation. To know one’s own condition, capabilities, and not the least one’s legal rights, facilitates when to ask for assistance and when to graciously reject it, and when to request needed accommodation so as to experience life with minimal limitations and barriers.

5.8 Abuse and Advocacy The possibility of sexual abuse (and other types of abuse) also needs to be mentioned. Sexual abuse affects all children, yet children and adolescents with disabilities appear to be at increased risk due to the complexities of disability, and additional dependence on others for care. Cole (1986) found that children were more likely to be victimized if they were at a disadvantage in physical, mental, and social skills compared to their peers. It has been reported that adolescent girls with physical disabilities (primarily affecting mobility) are at increased risk of experiencing forced sex (Cheng and Udry 2002; Alriksson-Schmidt et al. 2010). If this holds true also for boys with physical disabilities, further investigation is needed as most surveys on sexual violence and abuse exclude males. The need for assistance in activities of daily living and personal care activities such as

5.9 Conclusion and Summary Raising a child with a mobility limitation—often associated with the sequelae of a chronic childhood condition—provides challenges and opportunities for the parents, the family, and the health care providers. This chapter has attempted to highlight the importance of a life course approach to addressing these challenges and taking advantage of the opportunities afforded one in raising a child. The challenges named herein are not inclusive of all that a child with a mobility limitation may experience and consideration

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of those explored will assist the family and the health care professionals in supporting the child to realize a life of greater health and participation. Along the same lines, not all children with a mobility limitation will be experiencing problems. The opportunities that come to parents in assisting and advocating that their child develop fully and successfully are the same for a child with and without a mobility limitation. A child is a child first and attention to this concept is key in the development of an adult who has the freedom and capacity to live life as he or she desires.

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Wallander, J. L., & Varni, J. W. (1998). Effects of pediatric chronic physical disorders on child and family adjustment. Journal of Child Psychology and Psychiatry, 39, 29–46. Wallander, J. L., Thompson, R. J., & Alriksson-Schmidt, A. I. (2003). Psychosocial adjustment of children with chronic physical conditions. In M. C. Roberts (Ed.), Handbook of pediatric psychology (3rd ed., pp. 141– 158). New York: Guilford Publication. Waters, E., Davis, E., Ronen, G. M., Rosenbaum, P., Livingston, M., & Saigal, S. (2009). Quality of life instruments for children and adolescents with neurodisabilities: How to choose the appropriate instrument. Developmental Medicine and Child Neurology, 51, 660–669. WHOQoL Group. (1993). Study protocol for the World Health Organization project to develop a quality of life assessment instrument (the WHOQoL). Quality of Life Research, 2, 153–159.

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Rethinking Deaf Learners’ Education: A Human Rights Issue Irma M. Munoz-Baell, Carlos Alvarez-Dardet, M. Teresa Ruiz-Cantero, and Emilio Ferreiro-Lago

Abstract

How can deaf children’s health be promoted through education in schools? To what extent does deaf children’s education benefit their state of health? Why is a broad-based approach bringing together Health for All, Education for All and Millennium Development Goals preferable to a single intervention strategy? Health and basic education are fundamental human rights. Though they are essential in sustainable human and social development, a majority—perhaps as many as 90%—of the 70 million deaf people in the world have never attended school and are therefore functionally illiterate. Only a few countries provide bilingual education in sign language(s) and oral language(s) for deaf children, and only in some schools. Why is this so? These excluded persons can only be reached through innovative approaches in which society as a whole and deaf community members in particular can fully and effectively participate and a wide range of different sectors can work together. Unless there is a radical change of perspective, the health and education will not be available to ALL, and therefore social inequalities will increase rather than decrease. This chapter is concerned with this and other topics related to health, education, bilingualism, sign languages, and the cultural identity of deaf communities.

I. M. Munoz-Baell () · C. Alvarez-Dardet M. T. Ruiz-Cantero University of Alicante, Carretera San Vicente del Raspeig s/n, San Vicente del Raspeig, Alicante 03690, Spain e-mail: [email protected] E. Ferreiro-Lago CNSE Foundation for the Suppression of Communication Barriers, Calle Islas Aleutianas 28, Madrid 28035, Spain e-mail: [email protected] C. Alvarez-Dardet e-mail: [email protected] M. T. Ruiz-Cantero e-mail: [email protected] D. Hollar (ed.), Handbook of Children with Special Health Care Needs, DOI 10.1007/978-1-4614-2335-5_6, © Springer Science+Business Media New York 2012

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Abbreviations

CRPD

onvention on the Rights of PerC sons with Disabilities EFA Education for All HFA Health for All HPS Health Promoting School MDGs Millennium Development Goals PAR Participatory Action Research WHO World Health Organization WFD World Federation of the Deaf

6.1 Introduction Although deafness does not necessarily imply communicative disability, in today’s societies one of the most immediate consequences is a breakdown in communication. In addition, the social image of deaf people is surrounded by stigma, negative stereotypes, and prejudices (Cumming and Rodda 1989; Hetu 1996; Van den Brink et al. 1996; Cambra 1996), the result of which is that deaf people are more disabled by their transactions with the hearing world than by the pathology of their hearing impairment; priority must therefore be given to the elimination of the stigma attached to deafness as a pathology (Munoz-Baell and Ruiz 2000). Scientific works have traditionally associated deaf people with a long list of negative attributes, some of which are incongruent among themselves. Deaf people have been said, for instance, to be aggressive, distrustful, obstinate…and at the same time submissive, credulous, or easy to manipulate (Lane 1992). To make things worse, many institutions and workers in the fields of health and education have strongly opposed the use of sign language (Lane 1992; Plann 1997). Hearing professionals’ negative categorization of deaf people has been given many labels, of which the most widely used is that of audism (Humphries 1977; Lane 1992); that is, “the notion that one is superior based on one’s ability to hear or behave in the manner of one who hears” (Humphries 1977:12). The view of deafness as a medically remediable pathology and the educational policies based on this view are now two

I. M. Munoz-Baell et al.

of the main obstacles in the world that hinder advancement in the inclusion and health of members of deaf communities (Munoz-Baell et al. 2008a).

6.2 Human Rights and Deaf People In January 2009, the World Federation of the Deaf (WFD) published a survey which reveals considerable inequalities among countries and regions with regard to deaf people’s exercise of human rights (Hauland and Allen 2009). For example, in 31 of the 93 countries that participated in the survey, deaf people are not allowed to hold a driver’s license, which puts severe limitations on their work opportunities and freedom of movement. Educational systems and/or levels of literacy among deaf children were also deficient in all the participating countries, with a high proportion of illiteracy being observed all over the world, while in nearly half the countries studied the deaf people are faced with obstacles hindering their access to the university system. The survey furthermore reveals that in 52 countries no information is available on the subject of the incidence of HIV/AIDS and deaf people. It is therefore understandable that 60 years after the proclamation of the Universal Declaration of Human Rights, the United Nations has recognized that persons with disabilities still form one of the most socially excluded groups in all societies. The fact that persons with disabilities have been historically deprived of human rights and fundamental freedoms led the United Nations to prepare and approve a convention to safeguard the most frequently violated rights, known as the Convention on the Rights of Persons with Disabilities-CRPD (UN 2006). The CRPD does not concern itself with each individual right expressed in the Universal Declaration, but concentrates on those which have been most frequently violated. Exclusion and discrimination have also been present in the lives of deaf people, and the CRPD is aware of this fact. The main question facing us is precisely the mapping out of the path leading to advancement for deaf people in the exercise of human rights ev-

6 Rethinking Deaf Learners’ Education: A Human Rights Issue

erywhere in the world: a hugely complex problem if we consider that the WFD survey mentioned earlier makes clear that factors other than the condition of deafness—mainly political and economic—affect the question. Nevertheless, and in spite of this complexity, one of the first factors to consider should be the way in which deafness is regarded. Two different and opposed perspectives on the conceptualization of deafness have dominated the scene, and have been exhaustively studied and debated in the scientific literature (Jacobson 1995; Torres 1995; Reagan 1995; Rose 1995; Hoffmeister 1996): on the one hand, a pathology-orientated perspective according to which deafness is defined as a medical condition requiring the restoration of hearing and speaking capacities; and on the other hand a socio-cultural perspective centering on sign language, and which defines deafness in the cultural context implicit in the language itself. Bearing in mind that the CRPD defines disability in terms of the relation between society and the individual,1 preferentially focusing on access to education and health from the pathology perspective rather than that of the environment, and that this direction does not lead to full participation and equality, we can only conclude that this “disabling” condition is simply being perpetuated. On the other hand, deaf sign language users consider that their language enables them to participate in completely functional communication—just like any other language—with the implication that they do not consider themselves disabled (Kravitz and Selekman 1992), but simply members of a deaf community with cultural and linguistic characteristics based on the visual nature of the language, which in turn generates its own cultural practices (Padden 1980; Lane 1984). This perspective means that the deaf community defines itself as a linguistic and cultural minority which aspires to bilingual and bicultural development: The acquisition and use of sign language(s) and oral language(s) pertaining to its social set1 “The drafters of this Convention were clear that disability should be seen as the result of the interaction between a person and his/her environment, that disability is not something that resides in the individual as the result of some impairment” (UN 2007:4).

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ting, together with its associated cultures. This approach is also based on a considerable amount of research work which has confirmed that each and every sign language studied worldwide fulfils the same functions as any oral language and shows the same levels of linguistic structure including complex grammatical rule systems, which are however different from those of oral languages in the way they are produced and perceived. A related question is one which for centuries has affected the image of deaf people among members of society and institutions: The confusion between langue (the language as a linguistic entity) and parole (the actual spoken utterances of that language), the assumption having always been that there can be no langue without parole. In recent decades, however, research into sign languages has helped in the confirmation of the fact that all human beings are born with the same language ability, irrespective of whether it be spoken or signed (Bauman 2004). The first modern linguistic analysis of a sign language was carried out in Holland by Bernard Tervoort in 1956 (Leeson 2000), and William C. Stokoe produced the first rigorous descriptive study of a sign language (American Sign Language, ASL) as the natural language of deaf people in 1960. Other research studies immediately followed all over the world (Friedman 1975, 1976; Klima and Bellugi 1979; among others). It must be remembered that sign languages are different in different countries, and even within the same country several sign languages or linguistic varieties of the same language can coexist (Canadian sign language and Quebec sign language in Canada, or Spanish and Catalan sign languages in Spain, just to mention a couple of examples). The CRPD aims to help in the eradication of this confusion from the outset, and therefore defines language in Article 2 of the Convention as referring to both spoken and signed languages. Furthermore, the Convention expressly refers to sign language no fewer than seven times, with particular regard to education, participation in cultural life, freedom of expression and opinion, access to information, and accessibility in itself. The CRPD, as we have pointed out earlier, proposes to reinforce these previously-recognized

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Table 6.1 Elements extracted from WHO health-promotion conferences which are useful in health-promotion programs among deaf communities, for application to individuals Conference Ottawa

Adelaide

Sundsvall

Jakarta

Bangkok

Individuals Prerequisites for health The fundamental conditions and resources for health are: peace, shelter, education, food, income, a stable ecosystem, sustainable resources, social justice & equity Equity, access, and development Inequalities in health are rooted in inequities in society. Closing the health gap between socially and educationally disadvantaged people and more advantaged people requires a policy that will improve access to health-enhancing goods and services, and create supportive environments In a health context, the term supportive environments refers to both the physical and the social aspects of our surroundings. It encompasses where people live, their local community, their home, where they work and play. It also embraces the framework which determines access to resources for living, and opportunities for empowerment Health promotion is a key investment Health is a basic human right, essential for socioeconomic development. Increasingly, health promotion is being recognized as an essential element of health development. It is a process of enabling people to increase control over, and to improve their health Progress towards a healthier world requires strong political action, broad participation and sustained advocacy. Health promotion has an established repertoire of proven effective strategies which need to be fully utilized

rights precisely because they have been repeatedly violated, which means that the manifest requirement of the recognition of these rights in education involves a greater emphasis on them in this field. Indeed, although the Convention does not recognize any new rights, it has developed as an instrument capable of promoting the application of human rights as established in the Universal Declaration, and supports a change from the medical to the social paradigm (UN 2006). Bearing in mind that deaf sign language users are especially vulnerable in the areas of education and health, in subsequent sections we shall deal with health-promoting settings as a strategy of the World Health Organization (WHO), and in particular with schools as one of the fundamental settings for the promotion of health in deaf girls and boys.

6.3 Health Promotion in Practice. Healthy Settings 6.3.1 Health Promotion. Empowerment and Networks The modern idea and concept of health promotion as “processes which favor control by individual and groups over the variables which affect their own health” (Eriksson and Lindström 2008, p 190) sprang from the Conference of Ot-

tawa 1986, the first worldwide health promotion conference organized by the WHO. Following the success of this first meeting and of its conclusions (the Ottawa Charter), other conferences were held in Adelaide (1988), Sundsvall (1991), Jakarta (1997), Mexico (2000), Bangkok (2005) and most recently Nairobi in 2009 (WHO: http:// www.who.int/healthpromotion/conferences/ en/). The Jakarta conference gave the concept of healthy settings its definitive importance, together with the idea that it is better to work with physical and social settings than just with individuals as targets for health promoting programs. In none of these conferences was explicit mention made of persons with disabilities or of deaf communities; but Tables 6.1–6.3 indicate passages from the texts of all the health-promoting conferences which can be used as arguments in favor of programs among deaf communities and their applications to individuals, environments, and policies. Differential elements in health promotion, when compared with other models of intervention in public health and in the health sciences in general can be identified as being: (1) based on a holistic, not strictly medical, approach (i.e., biopsychosocial model); and (2) nonpaternalistic, aimed at favoring personal and group options. The global Health for All (HFA) strategy—a proper application of sociodemocratic ideology


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Table 6.2 Elements extracted from WHO health-promotion conferences which are useful in health-promotion programs among deaf communities, for application to environments Conference Ottawa

Adelaide

Sundsvall

Jakarta

Bangkok

Environments Create supportive environments Our societies are complex and interrelated. Health cannot be separated from other goals. The inextricable links between people and their environment constitutes the basis for a socioecological approach to health. The overall guiding principle for the world, nations, regions and communities alike, is the need to encourage reciprocal maintenance—to take care of each other, our communities and our natural environment. The conservation of natural resources throughout the world should be emphasized as a global responsibility The value of health Health is both a fundamental human right and a sound social investment. Governments need to invest resources in healthy public policy and health promotion in order to raise the health status of all their citizens. A basic principle of social justice is to ensure that people have access to the essentials for a healthy and satisfying life The Conference highlighted four aspects of supportive environments: 1. The social dimension, which includes the ways in which norms, customs and social processes affect health. In many societies traditional social relationships are changing in ways that threaten health, for example, by increasing social isolation, by depriving life of a meaningful coherence and purpose, or by challenging traditional values and cultural heritage 2. The political dimension, which requires governments to guarantee democratic participation in decision-making and the decentralization of responsibilities and resources. It also requires a commitment to human rights, peace, and a shifting of resources from the arms race 3. The economic dimension, which requires a re-channelling of resources for the achievement of HFA and sustainable development, including the transfer of safe and reliable technology 4. The need to recognize and use women’s skills and knowledge in all sectors—including policy-making, and the economy—in order to develop a more positive infrastructure for supportive environments. The burden of the workload of women should be recognized and shared between men and women. Women’s community-based organizations must have a stronger voice in the development of health promotion policies and structures Priorities for health promotion in the twentyfirst century 1. Promote social responsibility for health 2. Increase investments for health development 3. Consolidate and expand partnerships for health 4. Increase community capacity and empower the individual 5. Secure an infrastructure for health promotion Advocate for health based on human rights and solidarity Invest in sustainable policies, actions and infrastructure to address the determinants of health Build capacity for policy development, leadership, health promotion practice, knowledge transfer and research, and health literacy Regulate and legislate to ensure a high level of protection from harm and enable equal opportunity for health and well-being for all people Partner and build alliances with public, private, nongovernmental and international organizations and civil society to create sustainable actions

to health policies—in political terms meant support for equity and national health systems, and a real technical revolution in regarding medical therapeutic approaches as being insufficient and consequently in proposing a reform of the emphasis given to primary care in the health services, a promise to further democratization with community participation, intersectorial action and, above all, a health-based rather than a diseases-based approach.

6.3.2 Advocacy for Health, Enablement, and Mediation The WHO’s Ottawa Charter not only saw the birth of Health Promotion in its widest sense, but also the beginning of a new way of working in Public Health, involving operational unity of information and action, the incorporation of traditional epidemiological surveillance, and public health surveillance as a function of advocacy for health.

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Table 6.3 Elements extracted from WHO health-promotion conferences which are useful in health-promotion programs among deaf communities, for application to policies Conference Ottawa

Adelaide

Sundsvall

Jakarta Bangkok

Policies Build Healthy Public Policy Health promotion goes beyond health care. It puts health on the agenda of policy makers in all sectors and at all levels, directing them to be aware of the health consequences of their decisions and to accept their responsibilities for health Equity, access, and development Inequalities in health are rooted in inequities in society. Closing the health gap between socially and educationally disadvantaged people and more advantaged people requires a policy that will improve access to health-enhancing goods and services, and create supportive environments. Such a policy would assign high priority to underprivileged and vulnerable groups Participants in the Conference recognized, in particular, that education is a basic human right and a key element in bringing about the political, economic and social changes needed to make health a possibility for all. Education should be accessible throughout life and be built on the principle of equity, particularly with respect to culture, social class and gender The prerequisites for health are peace, shelter, education, social security, social relations, food, income, the empowerment of women, a stable ecosystem, sustainable resource use, social justice, respect for human rights, and equity. Above all, poverty is the greatest threat to health Four key commitments are to make the promotion of health: 1. central to the global development agenda 2. a core responsibility for all of government 3. a key focus of communities and civil society 4. a requirement for good corporate practice

In response to paternalistic excesses in health education and their secondary effect of victims blaming, and to reaffirm individuals’ and groups’ right to exercise control over their health, the notion of enablement first saw the light of day in Ottawa. It was no longer a question of telling people what they should or should not do, but rather to enable them to manage their own health affairs and the loss of good health, including a more autonomous use of health services and medical technology. The Ottawa conference also expressed its support for self-help, self-care, social networking, and community reinforcement, all clearly linked to the concept of empowerment. To sum up, the objective of health promotion is to mediate in the setting up of healthy public policies, using tools which are democratically acceptable and appropriate to a society of information, such as the advocacy for health and work for increased autonomy of groups and individuals.

6.3.3 Disabilities and Health Services At any meeting of a group of persons with disabilities, a frequent topic of conversation is the medical profession and experiences within the health ser-

vice. This is because these people are concerned about the quality and the quantity of services offered, and questions relating to the social control of medicine, the definition of normality and of behaviors considered to be acceptable or otherwise. In our society, we frequently find certain discriminatory attitudes and premises supporting the idea that persons with disabilities automatically have a poorer quality of life. We have every reason to believe that doctors interiorize these predominant attitudes and consequently respond accordingly to the needs of persons with disabilities. The negative attitudes of some doctors not only affect a person with disabilities’ self-esteem, but are also the cause of limitations on access to information and health care. These persons with disabilities therefore often refute the medical profession’s interventionist nature. Nevertheless, persons with disabilities are clients of the health services by virtue either of their impairment or of ordinary diseases. The difficulties most often experienced by persons with disabilities as regards the health sector are problems of access to the sector itself and difficulties related to healthcare workers’ negative attitudes. The principal cause of dissatisfaction with doctors lies in their tendency to center only on the functional impairment and to


draw conclusions about the person’s capabilities and competence without paying much attention to environmental, economic, or attitudinal obstacles, which might be more important. They also point out that doctors usually relate all illnesses to the disability—as an extension of it—that there are difficulties in getting referred to specialists by basic healthcare services; that information is withheld and the person’s intimacy is violated when confidential information is revealed to family members and personal caregivers. Deaf sign language women often mention problems relating to intimacy and access to information (National Disability Authority 2006; Ubido et al. 2002; Thomas and Curtis 1997). It often occurs that the lack of professional sign language interpreters in healthcare centers leads to greater reliance on members of the family, friends, or offspring in communication with the doctor. Although deaf women might find this situation unacceptable, they often have no option and are therefore unable to gain access to health care and treatment without involving third parties. Worries about their intimacy and confidentiality may lead women to fail to consult their doctor unless it is absolutely necessary; it can easily occur, for example, that a young deaf sign language woman who would like to obtain birthcontrol products would be unwilling to mention this to her doctor unless it were through a professional sign language interpreter subject to a strict deontological code of conduct. A health promoting setting for persons with disabilities within a healthcare system must make them feel that interest is being taken and that their situation is properly understood; it must give a sense of security when they are worried, and reinforce the effort they themselves make so that they do not feel dependent. It should also provide a high-quality service and comprehend people’s needs independently of their medical problems. It should furthermore, guarantee that health workers will make an effort to establish proper person-to-person relations by the use of questions relating to the person with disabilities’ opinions and feelings, and to demonstrate an attitude of personal attention and empathy, a preference for teamwork to find optimal solutions, and the normal therapeutic process.

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In addition, deaf people do not belong to a homogeneous group; deaf women are those who feel most discriminated against, and people with preverbal (or prelinguistic) deafness generally feel at a greater disadvantage than those with postverbal (or postlinguistic) deafness. More information is therefore required regarding the reasons for a low level of satisfaction with the health service in both these groups (Morris 1996).

6.3.4 The Settings Approach The settings approach has proved to be a useful strategy in the process of clarification of objectives when planning health-promoting action (Dooris 2006), and thus forms the nucleus of the majority of WHO projects currently under way all over the world, such as Healthy Cities (Duhl 1986), Healthy Schools (St. Leger 1999), Healthy Hospitals, Healthy Prisons, Healthy Universities, or Healthy Workplaces. In all these projects the setting is defined not only as a physical place in which health is to be promoted, but also as a social entity subject to change and which can be health promoting if we consider the influence of the relationship between the social environment and personal factors on the setting itself and on the creation of health problems within it. In this sense, a setting is a social system, and therefore the action should be directed not only at individual persons but also at the social patterns and structures which shape the social system. Today the settings approach can be considered to have proved that it can (1) mobilize political support and put health topics on the public agenda; (2) create pathways for participation and models of empowerment; (3) extend far-reaching, even worldwide, networks for collaboration, innovation, and exchange of experiences; (4) reveal positive changes in the health of people in the target setting, although without experimental design phases; and (5) gather, as it has done over the past few years with the application of multilevel analysis techniques, a wealth of empirical evidence which in practice justifies the importance attached to the settings approach. As members of society, the members of deaf communities in general benefit from advances

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made via the settings approach, but we can probably expect greater health benefits for this social group from the healthy schools program, the conceptualization of the domestic environment as a setting for health improvement, and the removal of discrimination in the health services.

6.3.5 The Family as a Healthy Setting The world is suffering from high levels of violence against women and children. Gender violence has been linked to social and political determinants. Although the world has moved in the last 50 years towards more democracy governments, it seems the process of democratization is ocurring mainly in the public sphere and not at the same pace in domestic environments (PalmaSolis et al. 2008). It is as if the area most in need of democratization were not countries under dictatorships, but domestic family life, even in developed countries with a long democratic tradition in the public domain. One of our worries is that this mixture of paternalism and authoritarianism is expressed even in associations created for and by deaf people. In some countries, public attitudes and objectives in associations of parents of deaf people are different from those of associations of deaf people themselves. By limiting the power of individuals to control the variables affecting their own health, the democratization of the domestic environment is not only a political or human-rights issue, but is also a matter of public health.

6.4 The School as a Setting for Health Promotion and Equality from an Early Age for Deaf Girls and Boys 6.4.1 Health, Education and Sustainable Human Development: Aspects in Common How can the health of deaf girls and boys be improved in schools through their education?


To what extent is the education of deaf learners beneficial to their health? Health and education are fundamental rights of all human beings with no possible distinctions whatsoever, and they support and amplify each other, so that neither is possible without the other (WHO 1998). Health and education are, furthermore, prerequisites for sustainable human and social development. From this broad, all-encompassing perspective, the relationships between health, education and sustainable human development are both numerous and inseparable from each other, so that the declared objectives in world policies for HFA, Education for All ( EFA), and Millennium Development Goals ( MDGs) are intimately interrelated and share common lines of feedback. The HFA global strategy, set in motion by the WHO in 1979 and based on principles of equity and intersectorial action, was a global appeal for the protection and health promotion of all the people of the world, with the aim of reducing serious inequalities in the states of health among the inhabitants of different countries and even within a single country. A twofold objective was set up: to reinforce everyone’s ability to choose and maintain a healthy lifestyle and to enable people to participate in whatever community actions might be necessary in order to achieve the goal of a healthy life. This objective is still present in the review of this policy carried out in the 1990s under the title of HFA in the 21st Century. The EFA movement, launched in Jomtien, Thailand in 1990, was a worldwide appeal to ensure that all children should enjoy the same opportunities for access to proper education and full participation in society. The objective of Education for all before the Year 2000, based on the principle that education is not only a right but is also the key to all development, stated that achieving full inclusive education meant paying attention not only to the school and classroom structure, but also to environmental conditions negatively or positively affecting the learning process for all pupils (attitudinal, physical, political, practical, or resource barriers). The Framework for Action adopted in Dakar in 2000 reiterated this collective aim, demanded urgent, effective action for the achievement of six objectives, and insisted


that governments should promote greater interaction with society as a whole in order to ensure proper basic EFA before 2015 the latest. More recently, the MGDs, adopted in 2000 at the 55th General Assembly of the United Nations, created a framework within which the action-strategies can be articulated and developed, and insisting on a collective commitment on the part of the international community to take action on matters of poverty, education, gender, child mortality, maternal health, disease epidemics, environmental sustainability, and finance for development. The deadline for the fulfillment of this commitment was likewise set at the year 2015. The three goals of HFA, EFA, and MDGs face the great challenge, which is also a great opportunity, of helping to achieve quality education, a healthy start in life and sustainable human and social development for all the boys and girls in the world, and all three are interrelated in such a way that any improvement achieved by one of them automatically brings about significant advances in the others. Nevertheless, while considerable progress has been made in some countries to guarantee these fundamental rights, there is practically no evidence to show a reduction in social inequities affecting children with disabilities as a result of these strategies. The persons with disabilities represent 10% of the world’s population; therefore, a considerable proportion of the population, in which women and children especially are subjected to numerous forms of discrimination (Quinn and Degener 2002). When faced with this situation, the Convention on the Rights of Persons with Disabilities, with the support of other international measures such as the Declaration on the Rights of Disabled Persons (UN 1975) or the Standard Rules on the Equalization of Opportunities for Persons with Disabilities (UN 1993), has placed even greater emphasis on the goals of HFA and EFA and sustainable human development. The CRPD is thus both a human rights treaty and an instrument for human development, and as such aims to promote, protect, and ensure the full and equal enjoyment of all human rights and fundamental freedoms by all persons with disabilities. It also establishes special measures in actual

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cases of persons with disabilities. Five articles in the CRPD make direct reference to the linguistic and cultural rights of members of deaf communities worldwide, specifically recognizing their right to receive an education of quality including the acquisition and use of sign language, to have access to information in sign language and in accessible environments, and to have professional sign language interpreting. The states that are signatories to the CRPD undertake a commitment to recognize, accept, facilitate, and promote the use of sign language and to respect the linguistic and cultural identity of deaf communities. As we have seen earlier, along with these linguistic and cultural rights, the CRPD also protects other fundamental rights and freedoms of deaf communities, with special attention to attitudinal, physical, political, practical, and resource obstacles which hinder deaf people’s full and effective participation in society on an equal basis with other people. In spite of this and other advances, however, there is still a gap between policy and practice as regards the incorporation of persons with disabilities’ points of view in the achievement of HFA, EFA, and MDGs goals, which cannot be fulfilled unless their initiatives give priority to persons with disabilities (UN 2009).

6.4.2 General Overview and Present Situation of Health and Education in Deaf Communities Worldwide There are no official figures relating to the number of members of deaf communities in the world. This is so because national surveys and census forms do not include questions on the use of the different sign languages. The WFD, however, estimates that there are about 70 million deaf people, of whom 80% live in developing countries (WFD: http://www.wfdeaf.org). In the age of Internet and globalization, the potential contribution of deaf communities to social, cultural, and economic development in the world is unlimited; but if countries fail to satisfy their needs in the areas of health, quality education and sustainable human and social de-

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velopment and their hopes and expectations, the HFA, EFA, and MDGs objectives will be devoid of meaning, while inequalities between countries and within countries themselves will increase rather than decrease. During the final decades of the twentieth century and the first decade of the twentyfirst century, considerable advances have been made in the reduction or elimination of the obstacles that deaf sign language users have traditionally had to face. The greatest achievements have been in the field of social rights, largely because of the international stimulus provided in the sixties and seventies by what has come to be known as the social model of disability or of human rights. This movement implied a reversal of the tendency to regard a deaf person as a problem—as the dominating pathological/medical model of previous years had done—and instead to see that person in the context of his or her rights, and in particular the right to equal opportunities, full participation and access to the fundamental human rights of health and education, among others (Oliver 1990; Quinn and Degener 2002; Albert 2004). The adoption of the Standard Rules on the Equalization of Opportunities for Persons with Disabilities (UN 1993) and the recent Convention on the Rights of Persons with Disabilities as we saw earlier gave rise to the publication of two reports on the progress achieved at an international level regarding the recommendations and objectives expressed in both of the measures. Thanks to these reports, the information we possess on the present situation and the future of the rights of deaf sign language users in the world is somewhat better. Both reports coincide in their conclusions when they point out that while advances have been made in most countries, these advances have been unbalanced and too slow. The first report, Government Action on Disability Policy. A Global Survey (Michailakis 1997a), prompted by the United Nations Commission for Social Development in 1994 with the aim of promoting the putting into practice of The Standard Rules and of measuring progress in the development of national policies and programs based on the Rules, reveals the serious limitations still imposed on deaf communities in matters of their right to ac-


cess information and communication, which constitutes a fundamental right for all people according to the Standard Rules. The report maintains that deaf people’s linguistic rights include the legal recognition of sign language as their first language in education and as the natural language of communication among deaf people and also between deaf and hearing people. Unfortunately, only 30% of the countries that participated in the survey recognize sign language as deaf people’s most natural language, while in 32.5% of countries sign language is not recognized at all, is not used in education or as the main means of communication between deaf persons and others. The availability of interpreting services in sign language is also a basic requisite for access to information and communication for deaf people; but in 59.3% of the countries surveyed these services were not available or were only available for major events. For example, in such countries the deaf people have no right to a proper defense in a court of law because the judicial system does not have a permanent sign language interpreting facility, which is essential in such cases. The figures are even worse if we look at the replies given to the same questions when they were addressed to deaf persons’ associations which also participated in the survey (Michailakis 1997b). The second report, the Deaf People and Human Rights Report mentioned above, published in 2009 and based on CRPD data, clearly reveals that deaf people’s human rights are constantly violated all over the world. Consequently, the report stresses that in order to limit violations of human rights among deaf people it is clearly essential that each country direct its policies toward the principles of full participation and equality in all aspects of life (Hauland and Allen 2009). We find similar results in less far-reaching studies such as the Sign on Europe Report (Kyle and Allsop 1998) financed by the European Parliament and the European Commission and carried out to measure the advances achieved by member states in 1997 following the motion passed by the European Parliament in 1988 recognizing European sign languages and requiring member states to adopt appropriate measures.


The report reveals yet another depressing picture and clearly shows how there were serious imbalances in the way advances had been made in different countries with huge inequalities still remaining within each country, and the same problems and challenges threatening the existence of healthy development for the world’s deaf children. At the same time, the literature on opportunities for deaf communities’ access to information in health and healthcare systems once again shows that advances in this direction have been very slow and that members of these communities are still faced with numerous barriers. One such barrier is a lack of opportunities for more deaf communities’ members to enter the health professions, a lack of hearing health workers trained in the use of sign language, the continued application of the medical–pathological model of deafness, a lack of educational programs designed in the appropriate format and language to meet the needs of members of the deaf communities, deaf people’s unawareness of their legal rights, and the lack of qualified interpreters with experience in matters of health, among others (Barnett 1999; Clowes 2000; Sadler et al. 2001; Ubido et al. 2002; Iezzoni et al. 2004; Folkins et al. 2005; Jones et al. 2005; Steinberg et al. 2006; Pollard et al. 2009). This panorama is an affront to human dignity and as such is unacceptable. For changes to be possible, a radical change of attitude is required, the adoption of a view of disability based on human rights and therefore recognizing deaf sign language users as a cultural minority with their own language—sign language. For this reason, it is essential to place deaf communities at the center of the process of change and to ensure that they have at their disposal the rights, resources, and opportunities which will enable them to lead the process and continue to contribute to it. In spite of important, though rare, advances made in some countries, many members of deaf communities—like many other vulnerable and threatened populations in the world—are still faced with social isolation, poverty, discrimination and exclusion, with all the concomitant consequences for their physical, mental, and social wellbeing. This situation, as we have already

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seen, is the result of numerous barriers hindering access to the physical, social, economic, and cultural environment, as well as to health, education, employment, information, and communication. These barriers, furthermore, severely limit deaf persons’ participation in social life on equal terms with other people. Many of the barriers begin in infancy, as when the use of sign language in deaf learners’ education is forbidden or restricted, which is in itself a clear violation of these children’s fundamental human rights (Hauland and Allen 2009). Deaf sign language users’ experiences in the workforce, including barriers to employment and popular job types have also been documented over the last few years; as well as barriers to work as perceived by deaf and hard of hearing young adults (Roots and Kerr 1998; Doe 2000; Mills 2002; Marsden 2003; RNID 2006; Thabo Mbeki Development Trust for Disabled People et al 2007). Several studies have pointed out not only the high rate of unemployment and underemployment of deaf sign language users as compared to their hearing counterparts. Factors such as communication barriers, employer attitudes and perceptions of the capabilities of deaf people, or low levels of literacy and education have been identified among the reasons behind this discouraging and unequal situation. Barriers to employment, however, have not only been identified in entering the workforce. The study Reaching Deaf Minds—In the Workplace (Grant 2005) illustrates the many barriers and critical areas to deaf sign language users’ wellbeing within the workplace; discrimination, in the form of being ignored for promotion, offered inferior work compared to one’s hearing colleagues, being ill-treated and treated unfavorably, lacking visual working environments, or inaccessible office information and “small talk” (i.e., “gossip”, unwritten rules, or even birthdays coming up), playing an important part. The obstacles the deaf sign language youth and adults encounter in developing the skills needed to ensure productive employment and entering the workforce have therefore profound effects on their overall health and future prospects, as well as those of their communities. Accordingly, it has been repeatedly highlighted that the dominating pathology-orien-

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Table 6.4 Recommended initial reading about deaf bilingual education worldwide No. 1. 2. 3. 4. 5. 6. 7. 8. 9. 10.

Initial readings World Federation of the Deaf (2007) Education Rights for Deaf Children. A policy statement of the World Federation of the Deaf Grosjean F (2001) The Right of the Deaf Child to Grow Up Bilingual. Sign Language Studies 1(2):110–114 Mahshie SN (1995) Educating Deaf Children Bilingually: With Insights and Applications from Sweden and Denmark. Gallaudet University Pre-College Programs, Washington DC Mason DG (1994) Bilingual/Bicultural Deaf Education Is Appropriate. Occasional Monograph Series, Number 2. York Univ, Association of Canadian Educators of the Hearing Impaired, Toronto (Ontario) Strong M (1995) A review of Bilingual/Bicultural Programs for Deaf Children in North America. American Annals of the Deaf 140(2):84–94 Skliar C, Massone MI, Veinberg S (1995) El acceso de los niños sordos al bilingüismo y biculturalismo. Infancia y Aprendizaje 69-70:85–100 Adoyo PO (2002) Emergent Approaches towards Sign Bilingualism in Deaf Education in Kenya. Stichproben. Wiener Zeitschrift für kritische Afrikastudien (3):83–96 Knight P, Swanwick R (2002) Working with Deaf Pupils: Sign Bilingual Policy into Practice. David Fulton Publishers, London Biggs C (2004) A bilingual and bicultural approach to teaching deaf children in China. UNICEF Zeshan U, Vasishta MM, Sethna M (2005) Implementation of Indian Sign Language in Educational Settings. Asia Pacific Disability Rehabilitation Journal 16(1):16–40

tated conceptualization of deafness mentioned earlier lies at the heart of it: “The roots of Deaf unemployment lie in the medicalization of deafness, which has led to inappropriate educational methodologies, the internalization of low expectations, and a social resistance to the removal of barriers” (Roots and Kerr 1998:5). The elimination of these barriers has therefore become a first priority and the best strategy in order to lay the foundations for equality of opportunities and the disappearance of marginalization. Traditional education policies in many countries have centered exclusively on the development of oral language among deaf children, with minimal or zero attention to sign languages (Kyle and Woll 1983, 1985; Mason 1994; Power and Leigh 2004). These policies have failed, not only in ensuring deaf children’s fundamental human rights but also in equipping a majority of deaf children with the language skills required if they are to enjoy the full exercise, with no discrimination of all their human rights and fundamental freedoms. This failure has had a severe impact on their cognitive, social, and academic development. As a result, many deaf children have grown up in the world deprived of the ability to communicate effectively with their families, friends, and teachers and with little chance of being able to participate

in the economic and social life of their community (Van Cleve 1987; Lane 1992; Power and Leigh 2004). The risk factors affecting the development of deaf children are therefore so great that unless healthier environments and a lower level of risk are achieved during their growth and development stage, these children will be denied many opportunities to develop their personal capacities, live and work with dignity, participate fully in social development and make well-founded decisions. It has been estimated that a large majority—perhaps as many as 90%—of sign language-using adults and children in the world have never attended school and are therefore functionally illiterate (Hauland and Allen 2009). Consequently, deaf sign language users belong to a marginalized social group, especially in developing countries. This conclusion, included in the Deaf People and Human Rights Report, once again reveals how necessary it is to strengthen each country’s capacity to create healthier physical and psychosocial environments if equity and sustainability are to be achieved. The health and education sectors are morally obliged to work together to meet the challenge provided by this situation, by improving the health of the deaf school population, reducing the school dropout


rate and ensuring that deaf learners have access to proper education under the same conditions as their hearing classmates. In order to make these rights effective, it is essential to rethink deaf children’s education through the adoption of measures aimed at guaranteeing these children’s right to learn and use sign language, develop their cultural identity, and have the opportunity to interact with deaf teachers who, as the CRPD proposes, can serve as role models for these children. Several experiences in different parts of the world have proved encouraging and have shown how it is possible to advance in the right direction. A new model of education was initiated in northern European countries in the early 1980s and since then has become a widely-accepted practical option in many countries for the education of deaf children (Tervoort 1983; Luetke-Stahlman 1983; Kyle 1987; Lucas 1987). Table 6.4 contains some basic readings on this model of education and the way it has been put into practice in different parts of the world. Bilingual education programs in sign language(s) and oral language(s) (also known as bilingual-bicultural, sign bilingual, intercultural, or multilingual, among others) view the education of deaf children from a new perspective, and although there are considerable differences from one country to another and even within one country, the programs can basically be defined as follows: • They contemplate the use of one or several sign languages and one or several oral languages as vehicular languages in schools. • They recognize the deaf community as a minority with its own language and culture, a direct consequence of today’s social, political, and educational recognition of the fundamental rights of deaf sign language users. • They fulfill the recommendations of the United Nations’ Convention on the Rights of Persons with Disabilities and other international agreements. These programs benefit deaf children and society in general in many ways. Table 6.5 shows some of these benefits.

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6.4.3 Schools as Daily Life Settings— International Initiatives to Promote Health and Education Through Schools Although the promotion of health and education can occur in practically all walks of life—at work, in schools, at home, or even in hospitals— the school is still the most important of all social settings for the development of the basic human rights of education and health, and also for showing a commitment to equity and to raising the social status of women and girls (WHO 1999). Children spend a large proportion of their time at school, at a stage in their lives when they are creating their own patterns of behavior in relation to education and health. Schools are also an ideal setting for the participation of parents and relatives in the development of those fundamental rights and for ensuring that it is all positively reflected in the neighborhood community surrounding the school (Grant and Monnot 1995). The importance of schools becoming healthy, inclusive, and child-friendly environments is becoming more and more evident. It is deemed important that they should be equipped to educate and protect the children in conditions of equality. The last few decades have seen many international initiatives aimed at protecting and ensuring the enjoyment of these rights through improved learning and health for the population in schools. Some of the characteristics of these initiatives are described in the following sections.

6.4.3.1 Health Promoting Schools Health Promoting Schools ( HPS) are an important health-promoting strategy in school environments, involving several different sectors in a concerted joint plan. The concept of HPS originated in Europe in the early 1980s. The concept has grown since then to become an educational model which is widely accepted and promoted in many parts of the world. HPS is regarded as an investment in education, health and democracy. Although definitions of these schools vary according to the specific needs of each school in its context and of the community in which it operates, a Health Promoting School can be

Bilingual programs in sign language(s) and oral language(s) are in accordance with the Convention on the Rights of Persons with Disabilities in that:

Benefits of bilingual education They advocate for fundamental human rights—Bilingual programs in sign language(s) and oral language(s) do not concentrate on the presumed limitations of deaf people, but on a society which is not accessible to ALL its members. These programs therefore refute the medical/pathological model of disability, and adopt a view of disability based on human rights—in accordance with the Convention on the Rights of Persons with Disabilities—which not only identifies the ways in which institutions and social attitudes impose restrictions on their participation in the surrounding society, but also emphasizes the rights of deaf people and the organizations that represent them to play an active role as co-participants in the process. Since disability is a construct of a social environment and is seen today in terms of discrimination and social exclusion, bilingual programs do not accept a priori that being deaf means also being disabled They guarantee the right of deaf children to learn and use sign languages—Bilingual education programs using both sign and oral language(s) guarantee deaf children’s fundamental right to learn and use their natural languages—sign languages—together with their right to develop their full potential without discrimination, to make healthier, more inclusive and more equitable decisions, and to participate fully and on an equal basis with others both in education and as members of society They guarantee the right of deaf children to receive a quality education in an accessible physical and psycho-social environment—The implementation of these programs ensures that the education of these children is carried out in the most effective language for them and in settings which facilitate their full academic and social development; in effect, these programs are based on deaf children’s right to receive a bilingual education, a right that has been recognized time and again in international initiatives prompted by the United Nations, UNESCO, UNICEF, and the World Federation of the Deaf, among others. Bilingual programs also create an environment in which deaf children can develop their full physical, emotional and social potential, which in the long term is a valuable investment They promote deaf learners’ maximum potential by reflecting reality—Bilingual programs attempt to reflect the way in which deaf sign language users—both youngsters and adults—live in a broad-based society which includes a deaf community. In this way, they favor the creation of a bilingual-bicultural environment in which deaf children can develop bilingual and bicultural skills at an early age by learning or acquiring at least two languages (sign language as their first or natural language, and the local oral language as a second language) as well as simultaneously acquiring two cultures (deaf and hearing) as integrated aspects of the curriculum and the environment. The objective of all this is to maximize deaf children’s capacity to control their own lives, to achieve complete development and to participate fully both in the deaf community and in the broader hearing society They prepare deaf learners for adult life and for their full and effective participation in society on equal terms with others— Through bilingual programs deaf children can benefit from an education which involves acquiring knowledge as well as learning to do, to be and to live with others. This type of education aims to exploit each child’s talents and capabilities and to develop each child’s personality with a view to improving their lives, preparing them for adult life and enabling them to participate fully and effectively in society They improve deaf learners’ academic results, raise their self-esteem and widen their social relations—Bilingual programs contribute to a considerable degree to the way a school fulfills its educational and developmental objectives. Pupils learn better if they are able to participate in the emotional and social environment of the school and to develop their action competence. Several studies of deaf learners’ academic achievements (Heiling 1995; Knight and Swanwick 2002) have shown that they obtain better grades and socialize better if they have had access to sign language before and after starting school

Table 6.5 Some ways in which bilingual education benefits deaf learners

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Table 6.5 (continued)

They make deaf communities more visible and encourage respect for its culture and for sign languages—The application of bilingual education programs is a crucial element in winning the support of educators and politicians, many of whom have little knowledge of the linguistic and cultural rights and needs of deaf sign language users. Support for these programs causes awareness of these rights among a wider spectrum of society and thereby improves the status of deaf sign language users as well as of their culture and their language

Benefits of bilingual education They enable members of the deaf community to work and cooperate closely and on equal terms with their hearing counterparts— Deaf children need to have the opportunity to relate to deaf adults who have been successful in life, as concrete instances on which they can base their lives and their expectations. Deaf teachers not only provide learners with a different view of deaf culture and its characteristics, but also function as models for these children, giving them a natural base for sign language. Bilingual programs also help in guaranteeing that deaf people’s points of view are taken into account in the whole educational process and in deaf teachers’ professional development They encourage participation and community responsibility—The education of deaf children does not take place in isolation, but can only be conceived and put into practice in a community context. This includes not only teachers and the deaf children’s classmates at school, but also parents, the neighborhood in which the school is located, and attitudes of local people towards the local school itself and the presence of deaf children in it. Bilingual sign and oral language programs encourage cooperation between the school, the family and the community by actively advocating for the recognition of the rights and needs of the deaf and hearing communities to which the children belong and with which they identify

6 Rethinking Deaf Learners’ Education: A Human Rights Issue 121

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described as “one that constantly strengthens its capacity as a healthy setting for living, learning and working” (WHO 1998). HPS are based on a social model of health understood as “a state of complete physical, mental and social well-being and not merely the absence of disease or infirmity” (WHO Alma Ata Declaration 1978). This, as we have mentioned earlier, is the way in which health is regarded as a fundamental human right. The basic aim of an HPS is to ensure that health promotion is part of all aspects of life in the school, thereby improving its overall quality. This requires joint action on the part of many sectors of society and the health sector itself. To this end, an HPS embraces three main elements— teaching programs, the school environment, and the wider community—in which each school can choose different options depending on its particular situation, previous experience, and needs. Today, there are agencies and nongovernment organizations with decades of experience in promoting health in schools. Here we can mention two in particular: the European Network of Health Promoting Schools ( ENHPS), set up in 1991 by the Council of Europe, the European Commission, and the WHO Regional Office for Europe, and now known as the Schools for Health in Europe ( SHE) network; and the Global School Health Initiative, launched in 1995 under the auspices of the WHO and whose guidelines are the Ottawa Charter for Health Promotion (1986), the Jakarta Declaration of the Fourth International Conference on Health Promotion (1997), and the WHO’s Expert Committee Recommendation on Comprehensive School Health Education and Promotion (1995; WHO 1998).

6.4.3.2 Inclusive Schools The idea of inclusive schools first arose in the World Conference on Education for All: Meeting Basic Learning Needs (Jomtien, Thailand 1990), and was reinforced in the World Conference on Special Needs Education: Access and Quality (Salamanca, Spain 1994) and in the World Education Forum (Dakar, Senegal 2000). The concept of inclusive education originates in the conviction that the right to education is a fundamental right and as such is a cornerstone of a fair society in which there can be no exclusion or discrimina-


tion in education. To make this right effective, all efforts must be directed toward achieving basic quality EFA children. It is a question of developing ways of enabling schools to satisfy the needs of all the children in the surrounding community, paying special attention to those who in the past have been excluded from educational opportunities, among whom are those with disabilities. Inclusive schools therefore value individual differences, rather than seeing them as a problem. HIV/ AIDS, early childhood education, school health, education of girls and women, adult literacy and education in situations of crisis and emergency were all areas of concern identified in the World Education Forum held in Dakar in the year 2000. Inclusive education may be viewed in many different ways depending on the country and the moment. The term has very often been associated with the integration of children with disabilities in ordinary schools, which has given rise to many debates on whether mainstreaming is the most suitable model for all learners with disabilities and for deaf children in particular (UNESCO 1994; Cohen 1998; Enabling Education Network 1999; Powers 2002; Foster et al. 2003; Hyde and Ohna 2004; World Federation of the Deaf 2007). The concept of inclusive education has gradually evolved over the years, however, and since the Framework for Action adopted at the World Education Forum in Dakar 2000 is now seen as a strategic process of identifying any barriers within and around the school that hinder learning and participation of ALL children, and reducing or removing these barriers as part of the wider strategy to promote an inclusive society (Lynch 2001; McConkey 2001; Booth and Ainscow 2002; UNESCO 2004b). Many countries have proved that a great deal can be done when there is a serious commitment towards inclusive education, and today we have at our disposal a broad theoretical and practical bibliography on how to define, implement, and evaluate inclusive programs for a large number of children who have hitherto been excluded from education. Some of the most creative proposals in this direction have come from poor countries, so it has often been suggested that the developed countries should look southward to find innovative approaches on such matters, especially in re-


lation to persons with disabilities’ access to quality education (UNESCO 1994, 2004a, b).

6.4.3.3 Other Initiatives: Rights-Based, Child-Friendly Schools and FRESH The rights-based, child-friendly school project, initiated by UNICEF, defines its schools as “inclusive, healthy and protective for all children, effective with children, and involved with families and communities—and children” (Shaeffer 1999). Within this framework, rights-based, child-friendly schools reflect and are aware of the rights of every child and adolescent in the community; they comprehensively see and understand the child in his or her context; they take into account the children’s opinions and interests in decisions which affect them; they strengthen teachers’ capacities, morale, commitment, and the conditions in which they exercise their profession; they focus on the family and encourage its members to participate actively in the business of the school; and they are based on the participation of the whole community. There are various options for implementing rights-based, child-friendly school models depending on the specific circumstances of each country. A Global Capacity Development Programme on Child-Friendly Schools has been recently prepared by UNICEF to support countries in designing and implementing these models. This program includes a manual with specific country examples of child-friendly school programs (UNICEF 2009a). Unfortunately, child-friendly school initiatives have produced relatively few examples where output and outcome results have been reported or evaluated. As a result, in 2008 UNICEF contracted a team of evaluators from the American Institutes for Research to investigate if child-friendly school programs have the desired effect of improving education quality and contribute towards system strengthening at the national level. A main challenge and barrier highlighted in the report was a lack of fully inclusion of students with physical and learning disabilities in childfriendly school programs (UNICEF 2009b). In the year 2000, several international agencies (WHO, UNICEF, UNESCO, and the World Bank) agreed to join forces in a joint proposal called FRESH (Focusing Resources on Effective

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School Health). A FRESH Start to Improving the Quality and Equity of Education. The global aim of FRESH is to make use of its collective experience to transform schools into healthier settings for children, to improve learning, and to make EFA easier to achieve through participation and intersectorial action (effective partnerships between teachers and health workers, effective community partnerships, and pupil awareness and participation).

6.5 An Example of Good Practice: The Health-Promoting and Inclusive School for Deaf Girls and Boys Initiative 6.5.1 How Did this Initiative Arise and What are Its Aims? The Health-promoting and Inclusive School for Deaf Girls and Boys Initiative began in 1999 as a research project funded mainly by the Spanish Ministry of Health and Consumption’s Health Research Council (project no. PI021068) and carried out within a Participatory Research Action (PAR) framework. The main objective of the initiative is to generate and disseminate strategic information which might help in improving our understanding of deaf children’s educational needs, thus promoting change toward a healthier, more inclusive, and more equitable education for these children. This Initiative orientates this objective in three directions—ethics, policies, and systems—all within the framework of international policies such as HFA, EFA, and MDGs. The “Health-promoting and Inclusive School for Deaf Girls and Boys Initiative” is the result of a long process of reflection and analysis of experiences and research in this area, stressing the fundamental role played by equity as a determining factor in the development of deaf children’s physical, emotional, and social potential. It stems also from the results of the research on which the Initiative is based. The Initiative provides a broad, holistic conceptual framework which makes it possible to view the strategies of “health-promoting schools”, “inclusive schools”, and “schools with bilingual programs in sign and

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Fig. 6.1 The logo of the initiative, created by a deaf Spanish sign-language using designer working in the CNSE Foundation for the Suppression of Communication Barriers in Spain. ( original logo in Spanish)

oral language for deaf pupils” as complementary strategies at every level. Figure 6.1 shows the logo of the Initiative, which attempts to reflect three of its key components: (1) health, (2) deaf children, and (3) sign language. The logo shows the Spanish sign language representation that encourages or enables deaf children to achieve their maximum health potential through the full development of their physical, emotional, and social capacities.

6.5.2 Why this Initiative? The Use of the Conceptual Framework of the “Health Promoting and Inclusive School for Deaf Girls and Boys Initiative” The promotion of health and of inclusive education in schools pursues the fundamental objective of enabling pupils, people who work in schools, and the community as a whole to carry out actions aimed at making life, the school, and society healthier, more inclusive, and more equitable. In order to achieve this basic goal, it is of vital importance that the pupils, the teachers, the parents, and the community in which the school operates should all participate actively in the entire process. In the case of the pupils, their active participation in the learning process implies the


specific development of empowerment and action competencies in a healthy physical and psychosocial environment to which they have ready access (Grant and Monnot 1995; WHO 2003; Gray et al. 2006). Developing their abilities (skills and attitudes and knowledge) to take action means that the pupils will be provided with the ability to make a difference in real-life situations and to effect change by making their own decisions during their whole lives. For this to happen, pupils must necessarily be able to express their feelings and opinions in their natural language—their first language or the one they naturally prefer—and this basic human right must be put into practice in a setting which promotes their emotional and social wellbeing. Health promoting and inclusive education, and rights-based child-friendly programs in schools often fail, however, to cover the needs of many children in high-risk situations, or do so unsatisfactorily. This failure is particularly evident in the case of deaf children and their deaf communities. The underlying reason behind this problem is that schools are only effective as healthy, inclusive environments for deaf children when they are able to respond in a satisfactory manner to these children’s specific communicative needs; which means, in effect, when they promote the use of these children’s natural languages—sign languages—in a healthy physical and psychosocial environment to which they have ready access. This is why the conceptual framework of the “Health Promoting and Inclusive School for Deaf Girls and Boys Initiative” proposes a combination of the “health-promoting schools” initiative and those of “inclusive schools” and “bilingual sign-language and oral language programs for schools”. This combination aims at integrating the basic complementary elements of all three initiatives in order to make more efficient use of their collective experience in a more effective, equitable, and sustainable manner. This conceptual framework can be used to achieve a dual purpose: first, to identify factors contributing to health problems among deaf learners of school age, taking the term “health” to mean a state of complete physical, mental, and social


wellbeing; and secondly, to consequently design and develop an appropriate, effective, and farreaching program.

6.5.3 Identifying Factors and Designing and Developing an Appropriate, Effective, and Far-Reaching Program The enormous diversity of existing settings means that there are differences between countries and even within the same country regarding the bilingual programs that schools can and must implement in order to guarantee deaf children’s basic rights of health, education, and sustainable human development and in order to achieve the best possible results. However, there are some elements which are common to all bilingual programs. For this reason, the Initiative takes as its starting-point the recommendation that all schools with deaf children should take into account when designing their local programs: that linguistic and cultural issues must not only be explicitly acknowledged but must also play a central role in all future initiatives for promoting health and inclusive education for deaf children all over the world. The Initiative therefore proposes that schools should use the following indicators as benchmarks—all in accordance with the Convention on the Rights of Persons with Disabilities—when evaluating or planning inclusive and HPS initiatives for deaf children: The status of sign language in the school, the stage of development of the bilingual experience (sign/oral languages) in the school, and the participation of deaf signing teachers and members of the deaf community in the educational process (MunozBaell et al. 2008b). In an increasingly globalized world, bilingual sign/oral language programs at local level do not occur in isolation, but are articulated among themselves and are related to other factors. These other factors include the observed tendency towards sociopolitical change involving a higher level of acceptance of diversity in general, together with deaf-related issues, with the medical versus the social view of deaf sign

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language users’ health, which together can either promote or restrict the educational choices for the deaf population much more than any change that takes place within educational systems themselves. Bilingual educational programs for deaf children are likewise very much determined by a wide range of multiple constantly changing interdependent factors involving not only the internal workings of each individual school, but also the environment surrounding the school. The Initiative therefore recommends that more knowledge and understanding should be gained of the internal and external nature of every center which implements bilingual programs, and the need to understand and analyze—taking into account the composition and geographical location—the cross-relationships between the main influences (or macro-tendencies) which hitherto have promoted or discouraged change toward bilingual education for deaf children. For this, a transnational perspective is required when deciding how best to facilitate bilingual education for deaf pupils both at national and local levels (MunozBaell et al. 2008a, 2011).

6.5.4 Disseminating the Health Promoting and Inclusive School for Deaf Girls and Boys Initiative The symposium entitled “Toward global inclusive education: Horizons for the deaf child” and the 3rd National Congress on Spanish Sign Language, both organized by associations of deaf sign language users in collaboration with associations of parents of deaf children and with the university, were held in Madrid, Spain, in 2009 and provided an initial framework within which to disseminate the Initiative at regional and national level. During 2010, the Initiative has been further disseminated in the USA and in Europe, at the National Center for Deaf Health Research, University of Rochester, NY; the Center for Disability Research, Lancaster University, UK; and the International Centre for Sign Languages and Deaf Studies, University of Central Lancashire, UK. In order to make the Initiative widely accessible and to provide assistance to

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education and health policy makers, the organizations of deaf people, schools, NGOs, parents and other people or groups interested in increasing the effectiveness of their efforts to achieve equity and sustainability in initiatives aimed at deaf children in schools, members of the University of Alicante and the CNSE Foundation for the Suppression of Communication Barriers in Spain produced a short dossier to help in disseminating the Initiative. The dossier was prepared with two objectives in mind: first, to encourage the design, implementation, and evaluation of healthy, inclusive programs for deaf children in schools; and secondly, to provide readers, especially teachers and parents, with up-to-date strategic information to help achieve the best results possible. The dossier can also be used, however, as a means of reflection. It is printed in a summarized format and using simple language in the form of questions and answers to make it easier to understand. The dossier provides its readers with basic information so that they can: • make personal reflections: by exploring the vision itself of health and the promotion of it, education, the role of the school, communication and deaf learners’ access to information. • interrelate concepts: by reflecting on and debating how the concepts of health, education, communication and sustainable human development are interrelated and the nature of their relationship with standard practice, cultural norms and environment of the school to which they belong or to which they are linked. • put into practice joint actions: by involving other members of the school—pupils and teachers—and the educational community in the generation of concrete proposals for the practical application of the ideas contained in the dossier. • advocate for an accessible environment: by supporting and advocating for changes of quality in the communicative and psychosocial environment of the school. In the dossier, the reader will find answers to questions such as: What is the relationship between health, education, and children’s development? What is an HPS? Why can schools be ideal settings in which to promote children’s


health and education? Why can a school that has a bilingual sign/oral language quality program be considered to be healthier, more inclusive, and more child-friendly and being more equitable? What does a bilingual sign/oral language quality program consist of? The document also gives information on the origin of the Initiative, explains what its content includes, and summarizes the main results and conclusions of the research study on which it is based. Finally, in order to ensure that the dossier is capable of providing genuine assistance for those responsible for taking public-policy decisions on matters of education and health, for organizations of deaf people, for schools, for NGOs, for parents, and other interested persons or groups, most of whom have little time to spare, the document ends with a basic reading list on health, education, and sustainable development; on bilingual sign/oral language education in Spain; and on scientific publications and press coverage of the preliminary results of the research on which the Initiative is based. The dossier can be downloaded free of charge from the website of the CNSE Foundation for the Suppression of Communication Barriers in Spain: www.fundacioncnse.org/materiales/Iniciativa. htm and complementary information on the project is available for consultation on the Public Policies and Health Observatory’s website: www.ua.es/webs/opps/webs_actividades/actividades_benchmarking_en.htm

6.6 Conclusion Health and education are fundamental human rights, and as such are two key elements in sustainable development, peace, and stability in every country and among the nations of the world. They are therefore indispensable ways of participating in the social and economic systems of the twentyfirst century. Although progress has been made in the protection and effectiveness of these rights in the case of deaf sign language users, there is still much to be done. It is unacceptable that a large majority—perhaps as many as 90%—of deaf sign language using adults and children in the world have never attended school.


It is also unacceptable that deaf sign language users’ right to have access to information and communication, to participate actively in decision-making processes on policies and programs that affect them directly, and to benefit from public health programs without discrimination on grounds of disability are still violated. Deaf children are still denied the right to learn and use sign languages in their education and in accessible physical and psychosocial environments in accordance with the Convention on the Rights of Persons with Disabilities. They are also denied the opportunity to relate to deaf adults who can act as lifelong role models, and full and equitable access to the knowledge, skills, and attitudes necessary in order to start life in good health and to participate fully and effectively in society on an equal basis with others. All the countries that have so far ratified the Convention on the Rights of Persons with Disabilities must fulfill their acquired obligation to make the fundamental rights of members of deaf communities effective, as set out in the Convention, and to make their first priority the recognition of sign language(s), including the recognition of and respect for deaf culture and identity; to guarantee the use of bilingual sign/oral language in education; to ensure accessibility in all areas of society and all aspects of life; and to provide adequate sign language interpreting services. It is urgent to meet the basic needs of deaf girls and boys in the immediate future and to make effective their fundamental rights in order to fulfill the global commitment to achieve the objectives of HFA, EFA, and the MDGs, and therefore reduce inequalities between countries and within each society. We live in a constantly changing society and in a world that is increasingly interconnected and interdependent, in which social inequalities must be urgently addressed if we are to achieve our goals of equity and sustainability. This involves taking immediate energetic measures at international, national, regional, and local levels. These measures, to be more efficient, must be participative in nature, involving the entire society and in particular deaf community members—including deaf children—through their representative organizations. The measures must provide a

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global solution, sharing knowledge and acting coherently, in coordination and in accordance with the international community’s resolutions, recommendations, and examples of good practice. We now have at our disposal a wide range of consolidated strategies which can and should be used thoroughly in the formulation, implementation, and evaluation of the measures taken. These strategies include especially health-promoting schools, inclusive schools, and bilingual sign and oral language education for deaf pupils. The Health Promoting and Inclusive School for Deaf Girls and Boys Initiative brings these three strategies together—as they are based on common values and principles—in order to provide a broad, comprehensive perspective to take advantage of lessons learnt in the past while looking toward the future. The Initiative may serve as an example of how to accelerate the achievement of the objectives expressed in HFA, Education for All, and the MDGs. Acknowledgments We would like to thank the following individuals for their contributions in enhancing the quality of this chapter: Vicente Clemente-Gomez for his help in transcribing part of it and Bryn Moody for the English translation of the original text.

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6 Rethinking Deaf Learners’ Education: A Human Rights Issue Marsden, H. C. (2003). Young deaf adults: Perceptions of career planning, goal setting, and literacy. Goal: Ontario literacy for deaf people (G.O.L.D.). Mississauga (Ontario). Mason, D. G. (1994). Bilingual/bicultural deaf education is appropriate occasional monograph series, number 2. York University, Toronto: Association of Canadian Educators of the Hearing Impaired. McConkey, R. (2001). Understanding and responding to children’s needs in inclusive classrooms. A Guide for Teachers, ED-00/WS/34. UNESCO Division of Basic Education, Paris. (http://unesdoc.unesco.org/ images/0012/001243/124394e.pdf). Michailakis, D. (1997a). Government action on disability policy. A global survey. Fritzes kundtjänst, Stockholm. (http://www.independentliving.org/standardrules/ UN_Answers/UN.pdf). Michailakis, D. (1997b). Government implementation of the standard rules as seen by member organizations of World Federation of the Deaf—WFD. Fritzes kundtjänst, Stockholm. (http://www.independentliving.org/standardrules/WFD_Answers/WFD.pdf). Mills, K. (2002). Employment and employability needs of the deaf community in Peel and Halton regions. Toronto: The Canadian Hearing Society. Morris, J. (1996). Encounters with strangers. Britain: Women’s Press. Munoz-Baell, I., & Ruiz, M. T. (2000). Empowering the deaf. Let the deaf be deaf. Journal of Epidemiology and Community Health, 54(1), 40–44. Munoz-Baell, I. M., Alvarez-Dardet, C., Ruiz, M. T., Ortiz, R., Esteban, M. L., & Ferreiro, E. (2008a). Preventing disability through understanding international megatrends in Deaf bilingual education. Journal of Epidemiology and Community Health, 62(2), 131–137. Munoz-Baell, I. M., Alvarez-Dardet, C., Ruiz, M. T., Ferreiro-Lago, E., & Aroca-Fernandez, E. (2008b). Setting the stage for school health-promoting programs for Deaf children in Spain. Health Promotion International, 23(4), 311–327. Munoz-Baell, I. M., Alvarez-Dardet, C., Ruiz, M. T. et al. (2011). Understanding deaf bilingual education from the inside: A SWOT analysis. International Journal of Inclusive Education, 15(9), 865–889. National Disability Authority. (2006). Exploring the research and policy gaps: A review of literature on women and disability. National Disability Authority, Dublin. (http://www.nda.ie/cntmgmtnew.nsf/0/BF3A 14B644017A648025729D0051DD2B?OpenDocum ent). Oliver, M. (1990). The politics of disablement. London: Macmillan. Padden, C. (1980). The deaf community and the culture of Deaf people. In C. Baker & R. Battison (Eds.) Sign language and the deaf community. Silver Spring: National Association of the Deaf. Palma-Solis, M., Vives-Cases, C., & Alvarez-Dardet, C. (2008). Gender progress and government expenditure

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7

Childhood Eye Disorders and Visual Impairment Jugnoo S. Rahi and A. Lola Solebo

Abstract

Children with visual and ocular disorders form a heterogeneous group with differing ocular and systemic disorders, and visual, other sensory, motor and global developmental impairments which impact the level and type of support they need in order to function to their highest capabilities. Abbreviations

AMC Anophthalmos, Microphthalmos, ocular Colobama—congential visual conditions CSM newborn assessment—Central Steady gaze Maintained ERG Electroretinogram EUS Examination Under Anaesthesia EUS Examination Under Sedation IAPD International Agency for the Prevention of Blindness ICD-10 International Classification of Disease, Version 10 JIA Juvenile Idiopathic Arthritis logMAR Logarithmic Scale of Acuity NSC National Screening Centre of the United Kingdom Department of Health ROP Retinopathy RP Retinitis Pigmentosa UK United Kingdom VEP Visual Evoked Potentials VI/BL Visual Impairment or Blindness WHO World Health Organization

J. S. Rahi () · A. L. Solebo MRC Centre for Paediatric Epidemiology, UCL Institute of Child Health, 30 Guilford Street, London WC1N 1EH, UK e-mail: [email protected] A. L. Solebo e-mail: [email protected] D. Hollar (ed.), Handbook of Children with Special Health Care Needs, DOI 10.1007/978-1-4614-2335-5_7, © Springer Science+Business Media New York 2012

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The issue of amblyopia, or the failure to develop normal vision during the finite window of developmental sensitivity, drives much of the diagnosis and management of vision-related disease in young children, due to the largely irreversible nature of the amblyopia following the age-related closure of the window of sensitivity. The diagnosis often requires a full ophthalmic assessment in a specialised setting, which may not be available to many of the children at risk across the world. A thorough ophthalmic assessment may also form an important part of the eventual diagnosis of a systemic disorder. Along with the ophthalmic care, a multi-disciplinary approach will afford these children the best opportunity of good functional and overall health outcomes.

7.1 Childhood Visual Development Although newborns are visually responsive to their external world, they see a very different world to older children, and the first few years of life involve a rapid and impressive development of visual function.

7.1.1 The Sensitive Period and Visual Maturation In Hubel and Wiesel’s Nobel prize-winning studies, the experimental monocular deprivation of kittens resulted in the non-deprived eye driving almost all the neurons in the adult cats’ visual systems (Wiesel and Hubel 1963).The development of mammalian vision and other sensory modalities involves a crucial sensitive period, a time window during early development when experience has a profound effect on the consequent structure and function of the brain. Within the sensitive period is a critical period, during which experience is absolutely necessary for the creation of neural networks and subsequent normal function (Lewis et al. 1995).In humans, normal development of the visual pathways requires the presentation of a focused image to the higher level systems during a sensitive period. The critical sensitive period starts after birth and lasts

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until the 6th to 8th postnatal week (Birch and Stager 1996; Lambert et al. 2006; Barrett et al. 2004). The system then becomes progressively less sensitive. The window ‘closes’ at about the age of 8 years, although some sensitivity may be retained throughout life (Hooks and Chen 2007). The development and maturation of the visual system is measurable as improving visual function. Vision rapidly improves in the first year of life with the maturation of retinal cells, retinal cell organisation, and higher level processing systems (Salomao and Ventura 1995; Mayer et al. 1995). As the child grows, acuity continues to increase, as do modalities such as colour vision, with adult levels reached at around 8 years of age.

7.1.2 Amblyopia Should the image presented to the retina during the sensitive period be defocused or blurred, the child will fail to develop normal cerebral visual system structure and function. This developmental abnormality is termed amblyopia. Amblyopia can arise secondary to defocus ( refractive amblyopia), a failure to maintain a straight gaze ( strabismic amblyopia) or structural disorders of the eye which obscure incoming images ( form deprivation amblyopia). Amblyopia can be bilateral, but is much more commonly unilateral, with the visual cortex ‘preferring’ the eye which presented the least blurred or defocused image during the sensitive period. Although individuals with unilateral amblyopia have good vision with both eyes open, they have an increased lifetime risk of bilateral visual impairment due to visual loss in their better-seeing eye when compared to individuals with bilaterally normal vision (Rahi et al. 2002a; van Leeuwen et al. 2007). The treatment of unilateral amblyopia requires early management of the cause of reduced vision and visual penalization of the fellow eye. This can be achieved with an adhesive eye patch to occlude the non-amblyopic eye, or chemical penalization of vision in that eye (using topical cycloplegic eyedrops which paralyse the eye’s ability to change focus or accommodate). During the period of treatment, the child is en-

7 Childhood Eye Disorders and Visual Impairment

couraged to interact visually with her environment. This can be difficult, as young children with severe (or dense) unilateral amblyopia are understandably resistant to the occlusion of their better functioning eye. The effectiveness of visual penalization decreases as the child ages, and treatment becomes largely ineffective outside the window of sensitivity (the first 8 or so years of life; Stewart et al. 2004). Thereafter, the visual system is mature and therefore immalleable, although some residual plasticity has been demonstrated in older children and adults with amblyopia (Scheiman et al. 2005; Rahi et al. 2002b).

7.1.3 Summary Children have a finite developmental window during which the visual system must be presented with a clear and focused image to ensure that the active process of ‘learning to see’ can be achieved. Consequently, the management of all young children with eye disorders requires some consideration of amblyopia.

7.2 Visual Impairment Normal visual development and subsequent normal function is an important aspect of child health. Visual impairment has a significant impact on the affected child’s developmental, educational and socioeconomic experiences during childhood and beyond. Impairment of visual function may be due to neurological and or ophthalmic disease, and may be associated with other systemic disorders, sensory impairments or global developmental abnormalities.

7.2.1 Visual Function—Acuity and Beyond 7.2.1.1 Visual Acuity Although normal vision involves more than visual acuity, acuity is the primary basis for the formal definition of visual impairment. Acuity

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is the ability to resolve visual cues—that is, to discriminate the edges of objects in space. The closer together the edges, the finer the detail, and the better the acuity needed to discriminate them. Acuity is measured at a near point of focus (reading acuity) or at a distance, and can be expressed as a fraction (e.g. 20/20 or 6/6 vision), as a numerical score, or in gross terms (e.g. perception of light/PL versus no perception of light/NPL): • LogMAR scale: The LogMAR scale uses a logarithmic conversion of visual resolution to create a linear scale of vision. The scale of ‘lines of vision lost’ can therefore be used in LogMAR visual acuity. Lines progress in steps of 0.1, with larger positive figures meaning poorer vision, and negative numbers meaning better than average vision. Thus LogMAR acuity of 0.0 is ‘normal’ acuity, whilst 1.0 LogMAR is very poor acuity (Table 7.1). As the first few years of life are a time of significant visual functional development, a child’s best achievable visual acuity is dependent on her age: newborns have an average acuity of approximately 1.5 LogMAR, whilst 12 month olds have an average acuity of 0.5 LogMAR, and 24 month olds have an average of 0.35 LogMAR (Fig. 7.1). • Snellen acuity: Previously, acuity was usually measured using Snellen charts. Snellen charts use lines of letters of decreasing sizes to determine acuity, which is expressed as a fraction. For example, the children who can only see and read the top line with the largest letter at a distance of 6 m have a vision of 6/60—their impairment is such that a ‘normally’ sighted child would have been able to see the letter at 60 m distance. The fraction used to represent Snellen acuity can also be expressed as a decimal (i.e. 6/60 vision becomes 0.1 vision). The limitation of the Snellen charts is that the scale uses a geometric (non-linear) sequence of worsening acuity, so that the severity of visual loss associated with the loss of ‘a line of vision’ is dependent on which line has been lost. For children who cannot co-operate with formal acuity testing due to young age or other reasons, the acuity can be measured using preferen-

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Table 7.1 A comparison of the different acuity scales in use: Snellen, LogMAR and grating acuity Geometric Scales Snellen metres Snellen feet Snellen decimal Cycles per degree 6/4.8 20/16 1.25 – 6/6 20/20 1 – 6/7.5 20/25 0.8 – 6/9 20/30 0.67 – 6/12 20/40 0.5 15 6/15 20/50 0.4 13 6/18 20/60 0.33 10 6/24 20/80 0.25 8 6/30 20/100 0.2 6 6/36 20/120 0.17 5 6/48 20/160 0.13 4 6/60 20/200 0.1 3 3/60 20/400 0.05 1.5 Count fingers (CF)—Able to count fingers at a given distance Hand movements (HM)—Able to perceive a hand waved near the face Perception of light (PL)—Able to perceive the presence or absence of light No perception of light (NPL, or absolute blindness)

Linear Scale LogMAR acuity −0.1 0.0 0.1 0.2 0.3 0.4 0.5 0.6 0.7 0.8 0.9 1.0 1.3

Worse vision 1.4 1.2 1 LogMAR Acuity

0.8 0.6 0.4 0.2

Better vision

0

0

5

10

15

20 25 Age in months

30

35

40

Fig. 7.1 Modified from Salomao and Ventura (1995). Visual maturation in childhood showing rapid improvement in the first year of life and the slower rate of improvement

as the child ages. The size of the data point reflects the number of tested children in each age group. (Copyright A. L. Solebo and J. Rahi)

tial looking techniques. Black and white gratings of differing width, where width is measured in cycles per visual degree (cpd), are presented to the children to determine their best achievable vision (Table 7.1). The gross measurement of vision is useful when vision is too poor for such assessment scales. Subjects can be described as having perception up to the level of ‘counting fingers’ ‘hand movements perception’ or ‘perception of light’ (Table 7.1)

discerning black images on a white background requires less contrast sensitivity than discerning grey images on a slightly lighter grey background. Visual function may be very different in differing illumination conditions for children with abnormal contrast sensitivity. Therefore adequate lighting is important for all children with reduced vision.

7.2.1.3 Field of Vision, Stereopsis and Colour Vision

7.2.1.2 Contrast Sensitivity Contrast sensitivity is the ability to discriminate between areas of different luminance, such that

Visual field The field is the total area of space perceived when the eyes and head are stationary. The normal adult visual field extends to

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60 degrees

60 degrees C

BS 100 degrees

75 degrees

Fig. 7.2 The visual field for the right eye. C = central fixation, BS = blind spot. The visual field diminishes in sensitivity the greater the distance from central fixation. (Copyright A. L.Solebo and J. Rahi)

60° nasally and superiorly, 100° temporally and 75° inferiorly from the central point of vision (Fig. 7.2). The area of greatest sensitivity is the central field, and sensitivity drops off towards the periphery. Significant field defects such as homonymous hemianopia (loss of the same half of visual field in both eyes) can leave central visual acuity mildly affected whilst severely impacting normal function. However, a field of vision restricted to 10° or less is defined as severe visual impairment, irrespective of central visual acuity (Table 7.2). Stereopsis Stereopsis, otherwise known as depth perception, requires correspondence between the vision in both eyes (binocular vision) and between the movements of both eyes. Good stereopsis requires reasonably good vision in each eye. It is formally assessed using various testing plates. Colour vision The red, green and blue cones of the retina at the back of the eye are responsible for detecting different wavelengths, with the brain using the differences between received wavelengths rather than absolute received wavelengths to perceive colours. Congenital defects in colour perception are common, non-progressive and untreatable inherited disorders which are

more common in boys (with a prevalence of 7%) than girls (prevalence 1%) due to the normally X-linked inheritance pattern. These defects can restrict a child’s future employment options, but they confer no increased functional disadvantage with regards to educational attainment (Cumberland et al. 2004).

7.2.2 Definition and Classification of Visual Impairment Visual impairment could be considered to be any impairment of any visual function. However, the formal internationally agreed definition of visual impairment uses the level of best achievable binocular (both eyes open) visual acuity (Table 7.2), and the size of the binocular visual field.

7.2.2.1 The World Health Organisation Definitions of Visual Impairment The WHO’s definitions of visual impairment, based on the WHO ICD-10 categorisation of visual impairment, are described in Table 7.2. Individuals are classified as either non-impaired, moderately visually impaired, severely visually impaired or blind using acuity in the better eye. 7.2.2.2 Other Classification Systems for Visual Impairment Although the WHO/ICD taxonomy has been widely adopted, there is some international variation in the definition of visual impairment, partly due to the existence of national registers. For example, in the United Kingdom (UK), eligible individuals are certified using the following definitions: Severely sight impaired (previously termed ‘blind’) is the vision worse than or equal to 6/60 Snellen with both eyes open, or severe peripheral field loss. Sight impaired (previously termed ‘partially sighted’) is the vision worse than 6/18 but better than 6/60 with both eyes open, moderate visual field defects or hemianopia. Within almost all classification systems, individuals with acuity worse than 6/6 or 0.0 LogMAR but better than 6/18 or 0.5 LogMAR are considered visually non-impaired. However, many industrialised nations set the minimum visual

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Table 7.2 The WHO/international classification of disease categorisation of visual impairment (World Health Organization 2006). The International Classification of Disease (ICD-10) differentiates between low vision and blindness in both eyes or in only one eye WHO Level of Visual Function (using vision in better eye) No impairment Moderate visual impairment Severe visual impairment Blindness

Category of Visual Impairment ICD-10 code – 1 (Low vision)

Best Achievable Acuity Worse than: – 6/18 or 0.5 LogMAR

Better or equal to: 6/18 or 0.5 LogMAR 6/60 or 1.0 LogMAR

2 (Low vision)

6/60 or 1.0 LogMAR

3/60 or 1.3 LogMAR

–

3 (Blindness)

3/60 or 1.3 LogMAR

1/60 or 1.8 LogMAR

4 (Blindness) 5 (Blindness)

1/60 or 1.8 LogMAR No light perception

Light perception

Better than 10°, worse than 5° 5° or less –

requirement for driving at somewhere between 6/9 and 6/12 Snellen acuity. There is therefore an increasing argument that individuals with vision worse than or equal to 6/12 Snellen/ 0.3 LogMAR could be considered to have economic or socially significant visual impairment (Rahi et al. 2002a).

7.2.3 Summary Normal vision requires the integration of a number of visual functions. However acuity, arguably the most important modality, forms the basis of the taxonomy for the classification of individuals as non-impaired, impaired, severely impaired or blind.

7.3 Assessment of the Eyes and Vision in Children The objective assessment of ocular structure and health and visual function is necessary to diagnose and monitor visual and eye disorders. This can be challenging in young children, and ageappropriate techniques have been developed to address these challenges, as described below.

7.3.1 The Multi-Disciplinary Paediatric Ophthalmic Team Within the setting of a paediatric ophthalmology clinic, a multi-disciplinary approach is necessar-

Visual Field (around central fixation) – –

ily taken to examine the child. The assessment of the different ocular structures and the different visual functional modalities is undertaken by specialists with differing but overlapping fields of expertise: • Ophthalmologists: Ophthalmologists are doctors and surgeons trained in the diagnosis and management of eye disorders. Practice differs in different countries, but specialists who practice as paediatric ophthalmologists have usually undergone a suitable period of subspecialist training in the management of paediatric eye disorders. • Orthoptists: These non-medical specialists are experts in the measurement of visual function in children and the detection of abnormal eye movements or strabismus (misalignment). • Optometrists: These non-medical specialists are experts in the assessment of the refractive state of the eye and thus the prescription of spectacles or contact lenses. They are also specialists in the prescription of optical visual aids, such as magnifying glasses, for children with visual impairment.

7.3.2 Measuring Vision in Children 7.3.2.1 The First Month of Life A healthy neonate will have a Central, Steady gaze which she can Maintain for brief periods (sometimes abbreviated to CSM fixation), but she will have limited ability to maintain sustained fixation on objects, or to perceive fine


detail or colour. A few hours after birth, a full term baby will be able to perceive and show attention preference for human facial features (Leo and Simion 2009; Goren et al. 1975). She will also display visual interest in high contrast or black and white patterns such as checkerboards/ stripes (Ricci et al. 2008; Fulton et al. 1981), and by 2 days after birth, some infants are also able to horizontally track such stimuli. Faces or patterned objects can be used to determine if neonates as young as 48 h old can fix on and follow visual cues(Ricci et al. 2008). If fixation cannot be assessed, the pupillary reflex to bright light is a useful way to confirm whether a functional afferent sensory pathway is present and responsive.

7.3.2.2 Pre-Verbal Infants The preferential interest which infants display in black and white patterns can be used to test visual function in pre-verbal children (Teller 1997). Boards with a window of gratings on one half and gray background on the other are presented to infants. If, on repeated presentation, the infant’s pattern of gaze corresponds to the half of the board containing the grating window, a level of grating acuity has been determined. Acuity can be tested with both eyes open (binocular acuity), or tested individually for each eye (monocular acuity) using adhesive eye patches to cover the eyes in turn. By 6 months of age, children are normally able to reach for visual stimuli. Objects can be presented to children to assess visual responsiveness, although this test also requires a degree of normal motor function. Preferential looking patterns can also be of use in non-verbal children. Young infants with unilateral or asymmetric visual impairment may preferentially fixate with one eye and object more to occlusion of the better-seeing eye. This can provide a clue to the possible presence of reduced vision. However, as normal ocular movements are needed to show preference, this technique may not be of use in children with neurological disorders, in whom electrodiagnostic assessment of vision may be of use. The optokinetic reflex, where the perception of moving pattern creates a responsive nystagmoid flicking eye movement (as seen in the eye

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movements of train travellers watching the moving landscape) can be used to grossly estimate visual function. A child’s ability to discriminate pattern moved across her visual field (by an operator using a hand-held drum or a tape) results in optokinetic nystagmus. However, this assessment of gross visual response is limited by poor repeatability due to loss of child interest and poor sensitivity and specificity (Hoyt et al. 1982): • Visual field tests: Gross visual field defects can also be determined: The infant’s attention is held centrally whilst a second examiner standing behind the child approaches with a visual stimulus. The child will then turn to the stimulus when it is moved into her field of view.

7.3.2.3 Pre-School Children Verbal children are able to report whether or not they can see and recognise presented stimuli and thus can be tested with shapes, numbers, and letters presented to them at different distances. A matching card can be used as an adjunct for children unable to name letters or pictures. 7.3.2.4 Over Five Years • Visual fields: Monocular and binocular visual fields can be plotted formally for older children. Targets of different sizes or lights of different luminosity are presented to children in different areas of the visual field. This allows the examiner to determine not only if there is vision in different areas of the field but also the level of sensitivity. • Colour vision: Red–green colour vision can be assessed using Ishihara chromaticity plate books, which detect the most common congenital inherited defects of colour perception. There are also more advanced tests of colour vision available for the assessment of children, which are used in specialised settings. 7.3.2.5 Electrodiagnostic Assessment of Vision Electrophysiological tests are used to assess the structural and functional integrity of the visual system in preverbal or non verbal children. Elec-

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Fig. 7.3 The ocular structures. Diagram of the anatomy of the eye, showing the anterior and posterior segments

troretinograms (ERGs) are a record of the activity within the retina and are consequently used to diagnose retinal disorders causing visual impairment. Visual evoked potentials (VEPs) provide a record of the activity through the visual pathways, and consequently can be used to diagnose retinal ganglion cell, optic nerve, visual tract and/ or visual cortex disorders. The level of activity is compared to normative data, and can provide an indication of visual potential. The performance of electrodiagnostic tests and the interpretation of the findings in children are demanding and highly specialised tasks which are undertaken by electrophysiologists with special expertise, and thus are only available in a relatively small number of centres.

7.3.3 Ophthalmological Examination 7.3.3.1 Examination of the Ocular Structures The eye (or globe) can be divided into two sections, the anterior and posterior segments, which are separated by the natural intraocular lens. The cornea, anterior part of the sclera and iris form the anterior segment whilst the vitreous gel, retina, choroid, optic nerve and posterior part of

the sclera form the posterior segment (Fig. 7.3). The globe can also be thought of as a tri-lamellar sphere: the outermost layer is the tough opaque protective sclera, the middle layer is the vascular and pigmented uvea, forming the iris anteriorly and the choroid posteriorly, and the innermost layer is the retina. Although significant ocular anomalies may be obvious without the use of specialised equipment, abnormalities in globe structure are more commonly diagnosed using magnifying instruments which allow visualisation of fine detail. These examinations are usually undertaken by an ophthalmologist: • The anterior segment: The anterior segment is best visualised using a slit lamp, which is a binocular microscope attached to a light source which can be altered in size, luminosity, colour and direction to allow views through the structures. Slit lamps are usually large table mounted structures, although small portable versions capable of more limited magnification and alterations in light source are also of use. The hand-held direct ophthalmoscope, which is small, portable and relatively inexpensive, can also be used to examine the anterior segment by setting the dial to a high ‘plus’ power (e.g. +10). The pressure within

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7 Childhood Eye Disorders and Visual Impairment Table 7.3 The six pairs of extraocular muscles Muscle Superior rectus Inferior rectus Lateral rectus Medial rectus Superior oblique Inferior oblique

Innervation Oculomotor nerve Oculomotor nerve Abducens nerve Oculomotor nerve Trochlear nerve Oculomotor nerve

the eye (intraocular pressure) can be measured using a tonometer • The posterior segment: The posterior segment can be examined using the slit lamp and lenses held up to the child’s eye, or using the indirect ophthalmoscope, a head mounted instrument. The handheld direct ophthalmoscope can also be of use in visualising the optic nerve. Microscopic examinations require a child to be relatively still. Children who are repeatedly uncooperative with examination and who are considered to be at significant risk of an ophthalmic disorder can be examined under sedation (EUS) or under anaesthesia (EUA).

7.3.3.2 The Eye Movements Six pairs of extraocular muscles move the eyes into place in order to allow visual fixation on an object of interest (Table 7.3). When the eyes are unable to maintain a straight binocular gaze on an object on interest, the child has a strabismus (or squint). Misalignments can consist of exotropia, or divergent deviations, esotropia, convergent deviations, and hypotropia and hypertropia, the vertical deviations. They can also consist of more complex deviations or combinations of deviations. Normal ocular alignment depends on normal muscle function and on the muscular feedback from ocular fixation on objects of interest, so strabismus can be due to pathology at the level of the extraocular muscles, the nerves supplying those muscles, or the higher level coordination of eye movement. The eyes are examined by an orthoptist or ophthalmologist to determine whether eye movements are full, but also whether the child is able to maintain straight fixation. Strabismus has a prevalence of between 2 and 5% in industrialised countries (Williams et al.

Primary Action Elevation in abduction Depression in abduction Abduction Adduction Elevation in adduction Depression in adduction

Secondary Action(s) Intorsion, ADduction Extorsion, ADduction – – Intorsion, ABduction Extorsion, ABduction

2008) and it can result in amblyopia, with the non-aligned eye failing to develop its visual potential, or it can be caused by amblyopia, with the weaker eye failing to maintain visual fixation, and subsequently ‘drifting off’. The child presenting with strabismus may therefore have another ocular disorder, and young children with strabismus require early intervention (with either ocular penalisation or surgery) to enable binocular vision to develop normally.

7.3.3.3 The Refractive State (or the Focusing Power of the Eye) A child’s refractive state (and consequent possible need for glasses) is determined by an optometrist or an ophthalmologist using a retinoscope and hand-held lenses. Refraction requires a relatively still child. In young children, a cycloplegic eye drop is instilled to paralyse accommodation and prevent the child from compensating for any refractive error. It may be possible to refract older children without cycloplegic drops, if they are able to relax their accommodation by reliably fixing on a distant object. There are also automated instruments which can give a measurement of a child’s refractive state.

7.3.4 Summary The ophthalmic assessments necessary for the diagnosis and treatment of childhood eye and vision disorders are complex tasks involving a multi-disciplinary approach within a specialised setting. This same approach is taken in the monitoring of visual function in children with eye and vision health care needs.

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Sub-Saharan Africa

1.2%

North Africa

0.08%

West Pacific - Cambodia, Vietman, Myanmar

0.08%

South East Asia

0.08%

Middle East / Eastern Mediterranean

0.08%

South America / Central America

0.06%

China and Mongolia

0.05%

Australia

0.03%

Western Europe

0.03%

North America

0.03% 0

0.02

0.04 0.06 0.08 0.1 Prevalence of blindness (%)

0.12

0.14

Fig. 7.4 Estimated global prevalence of childhood blindness by region data from World Health Organization 2009. There is also significant variation within regions. (Copyright A. L. Solebo and J. Rahi)

7.4 Epidemiology of Childhood Visual Impairment In 2002, the global burden of blindness stood at 36 million persons, and 4% of them were children. In low or middle income countries 93.5% of these children live, where 60% of blind children die within a year of being diagnosed (World Health Organization & International Agency for the Prevention of Blindness (IAPB) 2005). Visual impairment and blindness (VI/BL) impacts the society and the individual due to the cost of medical and social support for the child and the adult she becomes, and the loss of potential employment-related income.

7.4.1 Global Prevalence of Childhood Blindness and Visual Impairment Both the frequency and pattern of causes of VI/BL vary across world regions (Fig. 7.4 and Table 7.4). The prevalence of global childhood blindness is between 0.3 and 1.2 per 1,000. Whilst

1.4 million of the world’s children are blind, an estimated 14 million are visually impaired (World Health Organization 2009). However, obtaining accurate epidemiological information about VI/ BL is a methodological challenge and there are limited available national data on the epidemiology of childhood visual impairment. The global variations in the prevalence of childhood blindness reflect the socio-economic development state of the region but more closely correlate with the childhood mortality rate within the region (Gilbert and Foster 2001). The association between childhood mortality and blindness is complex, as both blindness itself and the causes of blindness are linked to the increased risk of childhood morbidity and death.

7.4.2 Global Causes of Childhood Blindness and Visual Impairment The most significant global causes of blindness are retinal disorders, corneal scarring, cerebral disorders, congenital ocular structural anomalies

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Table 7.4 Most important global preventable, treatable and unavoidable causes of blindness by region. (Gilbert and Foster 2001; Resnikoff et al. 2004; World Health Organization et al. 2005) Regions

Sub-Saharan Africa North America South America Middle East/Eastern Mediterranean North Africa Western Europe South East Asia

West Pacific region

Most Important Causes of Blindness Preventable Treatable

Not Currently Preventable or Treatable In all regions: Inherited Corneal scarring. cataract In all regions: retinal disease, congenital (congenital rubella) Refractive error, ocular structural retinopathy of Optic nerve and cerebral prematurity, cataract, anomalies, optic nerve disease (meningitis) and cerebral disease Uveitis (parasitic infections) glaucoma Corneal scarring Optic nerve and cerebral disease (meningitis) Corneal scarring, optic nerve and cerebral disease (meningitis, TB, malaria), cataract (congenital rubella) Optic nerve and cerebral disease (meningitis)

Table 7.5 The most common or significant ocular disorders associated with visual impairment Refractive Disorders Myopia Hyperopia Astigmatism Anisometropia Retinal Disorders Congenital/genetic Retinal dystrophies Retinoblastoma

Acquired Retinopathy of prematurity

Congenital/genetic Optic nerve hypoplasia Congenital optic neuropathy

Acquired Optic nerve hypoplasia

Optic Nerve Disorders

Lens Related Disorder Cataract Corneal Disorders Corneal scarring Glaucoma Primary Globe anomaly Anophthalmos Coloboma Uveal disorder Uveitis

and cataract (Table 7.5 and Figs. 7.5–7.6). The pattern of causes for VI/BL varies, reflecting the regional balance of the determinants of specific diseases, and the resources and capabilities of the region to execute preventative strategies for these diseases. Thus, whilst corneal disorders (which

Secondary Microphthalmos

Aniridia

largely consist of scarring diseases caused by endemic infections such as measles or nutritional defects such as vitamin A deficiency) account for 1% of blind children in European countries, they account for 36% of Sub-Saharan Africa’s

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J. S. Rahi and A. L. Solebo 17%

dustrialised countries, as the findings are comparable with those from similar populations (e.g. Scandinavia; Blohme and Tornqvist 1997a, b).

27%

16%

4% 5% 12%

7% 12% Cornea Whole globe

Cerebral Glaucoma

Lens

Uvea

Optic nerve

Retina

Fig. 7.5 Global causes of childhood blindness, by anatomical site of cause, as a percentage of total blindness. (Copyright A. L. Solebo and J. Rahi)

blind children (Resnikoff et al. 2004; Gilbert and Muhit 2008; Gilbert and Foster 2001). As stated earlier, there are limited data on the prevalence and causes of childhood visual impairment (as opposed to blindness). However, the WHO has identified uncorrected refractive error as one of the most important preventable and readily treatable causes. The worldwide prevalence of refractive errors is between 2 and 10% (Resnikoff et al. 2004, 2008).

7.4.3 Causes of Childhood Blindness and Visual Impairment in Industrialised Nations In some industrialised higher income countries, it is possible to estimate the prevalence of visual impairment using live registers. However, prior experience in UK has been that these registers can be incomplete or biased with regards to distribution and causes as registration is not compulsory (Evans 1995). Here we describe the epidemiology of visual impairment in the UK as a ‘model’ for other in-

7.4.4 The British Childhood Visual Impairment Study (2000) • Incidence: The annual cumulative incidence of severe VI/BL is approximately 6 per 10,000 for children aged ≤16 years and the majority of children were diagnosed in their first year of life. The cumulative annual incidences for children with and those without additional non-ophthalmic disorders are 4.6 and 1.3 per 10,000 respectively. Children with a low birth weight ( <2,500 g) also had an increased risk of being severely impaired or blind when compared to normal birth weight children, and children from ethnic minority groups and those from the most socio-economically deprived families were also over-represented. • Causes: Neurological or cerebral disorder affecting the visual system was the most significant cause of childhood SVI/BL, accounting for almost 50% of cases. Optic nerve disorder accounted for 28% of childhood SVI/ BL, and retinal disorders 29%.

7.4.5 Summary Childhood VI/BL affects over 14 million children worldwide, and most of these children live in low or middle income countries, where both the prevalence of blindness and the total child population are greater. The most common causes include acquired or inherited retinal disease, corneal scarring, cataract and refractive errors, and disorders of the brain or higher visual structures, which are responsible for up to half of all blind children in higher income countries. In UK, 75% of blind children (and possible other industrialised countries) also have a significant systemic disease or another sensory or motor impairment. The frequency and causes of visual impairment vary significantly across the world, reflecting the global patterns of the overall health and survival

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7 Childhood Eye Disorders and Visual Impairment Fig. 7.6 The different cerebral/visual pathway causes of childhood SVI/ blindness as a percentage of all children with cerebral causes (UK used as a model for developed nations). (Copyright A. L. Solebo and J. Rahi)

Hypoxic or ischaemic encephalopathy 25% 44%

Structural abnormalities - e.g. leukomalacia (white matter lesions Tumour - e.g. astrocytoma, glioma

15% 4%

6%

6%

Infection - e.g. viral Neurodegenerative disorders Unknown disorder

of children and the socio-economic developmental status of the region.

7.5 Prevention of Childhood Visual Impairment Many of the causes of childhood visual impairment (especially in the developing world) are avoidable or potentially preventable. We discuss some of the most important preventative strategies below.

7.5.1 Primary Prevention Programmes aimed at preventing the development of blinding disorders focus on the prenatal causes of disease and on the childhood causes.

7.5.1.1 Immunisation and Control of Infectious Disease Many blinding ocular disorders have an infectious aetiology. Measles is a leading cause of mortality amongst young children, and also causes morbidity such as blinding corneal scarring. The Measles Initiative, an international collaboration including partners such as the WHO and the United Nations, has been successful in reducing the number of measles deaths globally through education, vaccination and treatment programmes (Wolfson et al. 2007). Measles, diarrheal illness and malnutrition can all result in severely dry eyes (xerophthal-

mia) and resultant corneal scarring (Maida et al. 2008). Therefore the control of parasitic and other infections should also play a part in the strategy to reduce global childhood visual impairment. Intrauterine rubella can lead to structural anomalies, retinal disorders and cataract, whereas intrauterine infection can result in congenital corneal scarring. Thus immunisation programmes to prevent this disease have a role to play in the prevention of childhood blindness: Whilst rubella cataract is rare in UK, which has a national scheme for the immunisation of pre-school children, it causes almost a fifth of all cataract in a country such as South Africa which lacks a national programme (O’Sullivan et al. 1996).

7.5.1.2 Vitamin A Supplementation Vitamin A deficiency is the most important factor in the development of xerophthalmia (severe dry eye) and corneal scarring in children with infectious diseases or malnutrition (Barclay et al. 1987). Over 3 million children worldwide are affected by xerophthalmia, and vitamin A supplementation has been shown to reduce the incidence of corneal disorders in countries such as Mali, Bangladesh and Indonesia (Schemann et al. 2007; Ahmed 2007; Barclay et al. 1987). 7.5.1.3 Genetic Counselling At present, many significant causes of childhood VI/BL are inherited and therefore are currently neither treatable nor preventable. Retinal dystrophies (largely inherited retinal disorders) are an important example. Although research on gene

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therapy is underway in this field, prevention of this disorder relies on the counselling of affected families, enabling parents to make informed decisions about future pregnancies (which are appropriate to their personal beliefs).

7.5.2 Secondary Prevention 7.5.2.1 Screening the General Populations • Neonatal and infant eye checks: Congenital ocular defects such as cataract require urgent diagnosis and early treatment to afford the child the best chance of developing functional vision. As the critical sensitive window closes at approximately eight weeks of life, the best time to examine the eye for a congenital defect is just after birth. The WHO has identified congenital cataract as the leading cause of avoidable childhood severe visual impairment or blindness. However some higher income countries, such as the Unites States, do not have a uniform implementation of newborn ocular screening, and lower and middle income countries do not yet have the capacity for formal national screening programmes. In UK, the National Screening Committee (NSC) sets the standards for universal childhood screening and surveillance, of which the ophthalmic component includes an examination of the eyes of all children in the first days following birth, and a second ‘safety net’ examination between the ages of 6 and 8 weeks (Department of Health National Screening Committee 2005). • School entry vision checks: Children with visual disorders often require additional support to enable them to realise their maximal academic ability. The support can only be provided (if the country’s socio-economic status can support it) if the disorder is diagnosed. The UK programme, similar to that in other countries, includes a check of vision at school entry (at 4–5 years of age). • Pre-term infant screening for retinopathy of prematurity: A significant high risk group worldwide is children born prematurely(Maida


et al. 2008). In higher income countries, babies born earlier than 32 weeks gestational age or with birth weights of less than 1,500 g are considered to be at risk, and should be examined and monitored by ophthalmologists until the child reaches their full term age. However in low and middle income countries, the screening criteria and national programmes differ as larger and older babies are also considered to be at risk of developing ROP (Gilbert 2008; Azad et al. 2009). The current international recommendations for ROP screening are that examinations should be carried out by a suitably trained ophthalmologist, that they should begin between the 31st and 36th post menstrual week of age (depending on the child’s gestational age) and that they should occur weekly to 3 weekly depending on the degree of ROP found (American Academy of Paediatrics 2006; Azad et al. 2009).

7.5.2.2 Clinical Surveillance of High Risk Populations It is recommended that high risk groups, such as children with a family history of ocular disorders, those with systemic disorders with known ophthalmic associations, or with neurological disorder and those with sensorineural hearing loss undergo targeted ophthalmic assessment for early diagnosis and intervention. 7.5.2.3 Timely Diagnosis and Treatment of Eye Disorders The secondary prevention of childhood VI/BL comprises prompt specialist clinical intervention to prevent visual impairment arising from eye disease. This requires the resource of paediatric ophthalmologists and other ophthalmic specialists who understand the particular issues regarding childhood vision and eye disorders. Access to ophthalmologists is severely restricted in most low income countries. For example, it has been reported that there are in total five or fewer paediatric ophthalmologists in each of the countries of Nigeria, Ethiopia and South Africa (Maida et al. 2008), whose combined population less than 5 years old is over 43 million children (www.unicef.org/statistics).

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7.5.3 Tertiary Prevention Once a child develops established visual impairment or blindness, management involves continued specialist ophthalmic input to help prevent further visual loss and minimising the limitations imposed on the child, for example with provision of low vision care, special and specific educational support, and habitation and mobility training to assist activities of daily living.

7.5.3.1 Low Vision Aids ‘Low-tech’ (technology) optical tools such as hand-held and stand-supported magnifiers, and ‘high-tech’ aids such as video magnifiers and closed-circuit television relays of printed material can be useful, enabling children with visual impairment to perform educational tasks at home, and eventually, at the workplace. 7.5.3.2 Educational Support for Children Children with visual impairment may simply need to sit nearer to the teacher and teaching materials, or face a certain way to maintain a view of the teacher, or may need more detailed support. In UK, half of primary and secondary school aged children with visual impairment receive their education in mainstream schools with or without specialist visual resources such as teaching assistants or video monitors (Keil 2003). Visual impairment teachers or special educational needs teachers provide either full or part time support depending on the degree of impairment and the resources of the local authority.As a significant proportion of the UK’s visually impaired children have additional significant systemic disorders, 32% of children with severe visual impairment or blindness attend schools for children with physical disabilities or learning difficulties (Keil 2003). 7.5.3.3 Registration of Visual Impairment Several countries have live registers of children with visual impairment which can be linked to service provision (e.g. educational and social support). Within a country capable of creating and maintaining an adequate information systems infrastructure, registering a child as blind or severely visually impaired should allow the fam-

ily easier access to financial and practical support such as financial benefits, aids to daily living and mobility aids. The registration process may also trigger the need for a statutory assessment of the child’s educational needs and possible future vocational needs.

7.5.3.4 Childhood Visual Development and Quality of Life Ideally, children with severe visual impairment should receive support to perform educational tasks, mobility related tasks and personal support to enable them to live their lives to the full. Consideration should also be given to the impact that their visual impairment has on their image of themselves and their place in the world. Currently, there are no robust studies of the impact of visual impairment on a child’s quality of life using a child specific instrument which takes into consideration the multifaceted construct of a child’s self image, or the changes to that self image as the child develops. However, such instruments are presently in development (Rahi et al. 2010). 7.5.3.5 Multi-Disciplinary Management of Visual Impairment Children with VI/BL form a heterogeneous group, consisting of children with a range of ocular or cerebral disorders, and many children with other sensory, motor and global developmental impairments. For example, almost a quarter of children born with congenital bilateral cataract have a systemic disorder, and a fifth of children with rod-cone type retinal dystrophy have neurosensory deafness. Thus, the input of paediatricians and paediatric neurologists, audiologists, and speech and language specialists is of importance, allowing early diagnosis and appropriate intervention and to reduce morbidity.

7.6 Childhood Visual and Ocular Disorders 7.6.1 Neurological Disorders In industrialised countries, the most significant cause of childhood blindness and severe visual impairment is cerebral and visual pathway dis-

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Fig. 7.7 The different refractive states. (Copyright A. L. Solebo and J. S. Rahi)

ease, and more than 2 in 5 of these children the aetiology of the disease is unknown (Fig. 7.6). Table 7.5 shows the most common or significant ocular disorders found in the child with eye or vision related special health care needs, presented in order of global burden.

7.6.2 Refractive Error The refractive or focusing state of the eye undergoes significant change in the first few years of life. The neonatal eye is long sighted or hypermetropic. Over the first 18 months of life, globe elongation, lens thickening, and flattening corneal curvature move the focusing system away from hypermetropia and towards myopia, or short sightedness (Fig. 7.7). Ideally, this ‘myopic shift’ ends with the eye at emmetropia, a neutral mid point refractive state. However, children may instead develop refractive errors. The prevalence of refractive error in childhood varies substantially with the population studied, ranging from 2 (in South Africa) to 70% (in urban China, Resnikoff et al. 2004, 2008; Negrel et al. 2000):

• Hyperopia (far-sightedness): Hyperopia (or hypermetropia) is the condition in which images are focused somewhere behind the focal point. Consequently, although this hyperopia may be due to the refractive power of the eye, it is often a reflection of the shorter axial length of the eye (axial hyperopia). Although it is normal to ‘grow out’ of hyperopia as the eye lengthens, 5% of children remain hyperopic(Williams et al. 2008). Hyperopic children will struggle to see clearly objects near their faces (e.g. reading materials) but may also struggle with objects at a distance from them, dependent on the severity of their hyperopia. • Myopia (short-sightedness): The majority of children with refractive error (between 70 and 90%) have myopia rather than hyperopia. Myopia, the condition in which images are focused somewhere anterior to the focal point at the retina, is common in the Western world, but it is even more common in far-eastern countries (Saw 2009). Children with myopia may struggle to focus clearly any object which is not close to their face. The degree to which

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7 Childhood Eye Disorders and Visual Impairment Table 7.6 The most common childhood retinal dystrophies. (Taylor and Hoyt 2007; Rosenberg et al. 1997)

Dystrophies affecting both central and peripheral vision Cone photoreceptor dystrophy* Cone-rod dystrophy* Retinitis pigmentosa/ Rod-cone dystrophy* (the (includes Leber’s amaurosis/LCA, a stationary most common group of cone-rod dystrophy) dystrophies) X-linked retinoschisis Stargardt’s disease Best vitelliform dystrophy Congenital stationary night blindness *These photoreceptor dystrophies are termed the ‘retinal ciliopathies’ and can be associated with systemic disorders involving neurosensory hearing loss, developmental delay, cardiac, limb and digit development, obesity, kidney disease, liver disease, and respiratory disease. Examples include Usher, Bardet-Biedel, Joubert, Refsum, and Alstrom disorders Retinal dystrophies which are present with visual problems in childhood

Dystrophies primarily affecting central vision

this occurs depends on the severity of the myopia. Severe or high childhood myopia is often associated with other ocular syndromes or pathologies such as dislocation of the lens and retinal detachment. Myopia is seen in other ocular and systemic disorders such as retinopathy of prematurity, congenital connective tissue diseases such as Marfans and Trisomy 21 (Marr et al. 2001). Children with refractive errors may be diagnosed through surveillance of children at high risk or following the diagnosis of another ocular disorder. If bilateral refractive error goes unnoticed, the children may develop amblyopic visual loss. Treatment for refractive errors involves spectacles or contact lenses and treatment of any amblyopia (Taylor and Hoyt 2007; Rosenberg et al. 1997). • Anisometropia is a significant difference between the refractive status of a child’s eyes, which can lead to amblyopia in the eye with the more severe refractive error. It is treated by full refractive correction (and penalisation therapy for the non-amblyopic eye). Anisometropia may also be due to significant astigmatism. Whilst most eyes are spherical with equal surface curvatures in all directions, a proportion of eyes have different degrees of curvature in different directions, like a hen’s egg. Astigmatism can be due to the inherent structure of a child’s eye, but can also (less commonly) be induced by lid or orbital lesions pressing on the eye. Management involves optical correction or removal of the offending lesion.

Dystrophies primarily affecting peripheral vision

7.6.3 Retinal Disorders • Retinal dystrophies: The retinal dystrophies are a collection of uncommon, untreatable, largely inherited disorders which are often found in association with systemic disorders (Rosenberg et al. 1997; Berson 1993; Maida et al. 2008). Although individually uncommon, collectively, retinal dystrophies are the cause of up to 10% of worldwide childhood blindness (Berson 1993). Children with retinal dystrophies may be diagnosed following targeted examination of children at high risk such as those with a family history, or those with neurosensory deafness. Hearing loss affects a fifth of children with visual loss due to rodcone dystrophies or retinitis pigmentosa (RP). RP is the commonest retinal disorder with a prevalence of 1 per 4,000 (Rosenberg et al. 1997) in Europe, and RP related disorders with associated neurosensory hearing loss (including the Usher and Bardet-Biedel sydromes) have a combined European incidence of 5 per 100,000 (Cremers and Collin 2009). Children with retinal disorders (Table 7.6) which primarily affect central vision will present earlier than those with peripheral retinopathy. However, the majority of these disorders are progressive, and some of the peripheral retinopathies go on to affect central vision. Currently, the treatment consists of low visual, educational and family support for affected children. However, there is much active research into genetic therapies to prevent or reverse visual loss (MacCarthy et al. 2009).

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• Retinoblastoma is a potentially fatal, often inherited tumour which may be bilateral (in those with hereditary disease) or unilateral. It is the most common childhood intraocular malignancy, but the annual incidence is low, at less than 0.5 per 10,000 children (MacCarthy et al. 2009). Retinoblastoma tumours may be diagnosed early through targeted retinal examination of children with a family history. Globally, later diagnosis is more common, with absence of a ‘red reflex’ (which is normally seen through the pupil with bright light) due to large retinal tumours, or extra-ocular progression of the destructive tumour, a stage which has a very high mortality rate. Small tumours are treated with laser or cryotherapy ablation, whilst large tumours are treated with removal of the globe (enucleation) and systemic chemotherapy. Whilst the survival rates for retinoblastoma are over 95% in the industrialized world (Kivel 2009), in parts of sub-Saharan Africa they are as low as 20% due to late diagnosis and restricted access to treatment (Marees et al. 2009). All children require specialist oncological input and follow up, as retinoblastoma survivors are at greater risk of dying from other cancers in adulthood (Resnikoff et al. 2004). • Retinopathy of prematurity: With the increased survival of premature infants in middle and lower income countries, retinopathy of prematurity ( ROP) is becoming a significant cause of childhood blindness. Up to 50,000 of the world’s blind children are blind due to ROP. Almost half of these children live in Latin America (Chen and Smith 2007). The retinal vessels begin to develop at 16 weeks gestational age and complete their growth just after full term birth. Preterm infants aged less than 32 gestational weeks or weighing under 1,500 g are at especially high risk of ROP. Excessive oxygen therapy leads to the first phase of ROP which comprises inhibition of the development of retinal vasculature, and the second phase is the hypoxia-driven development of abnormal retinal neovascularisation and inflammation, which can lead to retinal detachment (Haines et al. 2005). Early detec-


tion of retinopathy of prematurity is essential for successful treatment (with laser or cryotherapy). Despite well-established screening and treatment programmes in industrialised countries, 13% of children treated for ROP will still be severely visually impaired by the disorder (Tornqvist et al. 2002). Prematurity is also associated with refractive errors and strabismus.

7.6.4 Optic Nerve Disorders The child with an optic nerve disorder has significant visual loss due to either a congenital disease causing poor vision from birth (optic nerve hypoplasia) or poor vision in childhood (inherited/ primary congenital optic neuropathy) or an acquired disease (secondary optic nerve atrophy). There are no known treatments for these optic nerve disorders; management involves support to the visually impaired child: • Optic nerve hypoplasia: Congenital hypoplasia of the optic nerve, with a reduced number of ganglion cells within both or one of the optic nerves is the result of an intrauterine insult during cerebral development of the visual pathways, and accounts for approximately 10% of blind children in industrialised nations. Identified risk factors for isolated optic nerve hypoplasia include maternal smoking and maternal diabetes (Tornqvist et al. 2002). There are often other associated structural abnormalities, the most common being midline cerebral and pituitary gland defects associated with a septo-optic dysplasia (Taylor and Hoyt 2007). The child with optic nerve hypoplasia may therefore have significant systemic disease and learning difficulties and require formal assessment by a paediatrician. • Optic atrophy: Acquired or secondary optic nerve atrophy is a sequel to an ischemic, infective, inflammatory, tumour related or other insult to the optic nerve. Secondary optic atrophy can be considered a significant worldwide cause of childhood visual impairment due to the multiplicity of disorders leading to atrophy.

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7.6.5 Cataract Cataract is any visually significant opacity of the naturally clear crystalline intraocular lens, and it is the most significant surgically treatable cause of childhood visual impairment in most countries. Cataract, which can be bilateral or unilateral, most commonly affects the child from birth (congenital cataract) or in the first year of life (infantile cataract). Lens opacities in later childhood may also be secondary to trauma, steroid exposure, or intraocular inflammation (Bhattacharjee et al. 2008; Maida et al. 2008). The global pattern of causes of cataract varies by the population studied, reflecting differences in genetic and environmental factors. Whilst idiopathic cataract remains prevalent, in developing countries other significant causes of early childhood cataract include intrauterine infections such as rubella (Rahi and Dezateux 2000). Management of cataract requires early intervention in order to prevent the dense amblyopia that would otherwise occur if left untreated. The child with congenital or infantile cataract may be diagnosed through newborn screening programmes using the ‘red reflex test’, affording the chance of early intervention, or may be diagnosed later due to irreversible amblyopic visual loss. Surgical removal of the lens is followed by replacement of the focusing power using aphakic (literally, ‘without-lens’) spectacles, contact lenses or intraocular lenses. In industrialised countries, up to 1 in 4 children with bilateral cataract will have a systemic disorder and will therefore need other medical care (Maida et al. 2008).

7.6.6 Corneal Disorders Corneal scarring: Several disease pathways, including infectious, nutritional and genetic disease lead to corneal scarring. Worldwide, the majority of these children live in lower and middle income countries and have xerophthalmia related corneal scarring (Hammersmith et al. 2005). In industrialised countries, the corneal opacities in childhood can be congenital or can be secondary to infections (infective keratitis), trauma, elevat-

ed intraocular pressure, or significant conjunctival disease such as vernal conjunctivitis (seen in children with a history of atopy), and blepharitis (inflammation associated with abnormal meibomian gland production of tear film lipid; Taylor and Hoyt 2007). Management of corneal disease involves the identification of risk factors for scarring in order to prevent corneal opacification. However, once the scarring has formed, surgical options such as widening of the pupil diameter (optical iridectomy), rotation of the cornea (rotational keratoplasty) or corneal transplantation are needed to restore some clear vision.

7.6.7 Glaucoma Glaucoma, which is responsible for 5% of the world’s blind children, is an optic neuropathy associated with elevated intraocular pressures. The elevated pressures are in turn secondary to a failure of the aqueous fluid drainage pathways in the iris-corneal angle (Taylor and Hoyt 2007). Aqueous drainage requires an ‘open angle’ with adequate space between the iris and cornea, and also that the insertion of the iris into the angle does not cover the trabecular meshwork draining system. Glaucoma in early childhood results in enlargement of the eye ( buphthalmos), corneal stretch and opacity, and progressive myopia and optic neuropathy. Childhood glaucoma is difficult to treat (Bhola et al. 2006) and the damage to the optic nerve can result in severe VI/BL in up to 50% of affected children (Papadopoulos et al. 2007). The disease can be primary—or secondary to previous cataract surgery—inflammation or trauma (Morrison et al. 2002; Shah et al. 2011). The child with glaucoma will present with a cloudy cornea and a large eye, and will either be diagnosed soon after birth thanks to early life ocular screening or will be already known to ophthalmic services at diagnosis due to treatment for another ocular disorder. Treatment is initially medical, but more commonly surgical procedures are needed to create artificially widened intraocular drainage pathways.

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7.6.8 Globe Anomaly A failure of globe development leads to a small eye, microphthalmos, or to total absence of the eye, anophthalmos. Segmental failure to develop results in keyhole defects termed coloboma. Coloboma can involve ocular isolated sites or a combination of sites. Anophthalmos, microphthalmos and ocular coloboma ( AMC) have an estimated combined annual incidence of 1/10,000 within an industrialized country (Shah et al. 2011). Over half of these children will have an associated systemic disorder (Cassidy et al. 2006). Early diagnosis of the ocular anomalies begins the cascade of investigations towards a timely systemic diagnosis, ensuring that the child’s carers are aware of the severe visual impairment and the subsequent impact on general development, and affording clinicians the opportunity of timely interventions such as amblyopia management.

7.6.9 Uveal Disorders • Uveitis: The uvea, the middle ocular lamella, can be affected by an inflammatory disorder termed uveitis, which is a relatively uncommon cause of childhood visual impairment. The inflammation may be idiopathic, or associated with other systemic inflammatory disorders, or caused by infections such as onchocerciasis, which is endemic in Sub-Saharan Africa, Central Africa and Latin America. The uveitis seen in association with juvenile idiopathic arthritis (JIA) affects the iris (iridocyclitis uveitis) and is often asymptomatic. Consequently, children may not complain of visual problems until the end stage of the disease, with blinding complications such as glaucoma, cataract and corneal opacity. It has been recognised that ophthalmological surveillance is necessary to diagnose and treat asymptomatic intraocular inflammation in children with JIA, although there is limited evidence on the effectiveness of the suggested surveillance programmes. The children at increased risk of developing JIA uveitis are those with poly-articular ANA positive disease which developed in the first 6 years of


life (Jordan et al. 1992; Shah et al. 2011), and treatment involves topical, local and systemic steroids and steroid sparing anti-inflammatory medications or treatment of the associated infection in association with a medical team. • Aniridia: PAX 6 has been described as the ‘master gene’, as its gene product helps to regulate other genetic processes involved in globe development. Mutations in the PAX 6 gene can result in congenital partial or total absence of the iris and corneal disease, cataract and glaucoma. Treatment involves managing the ocular complications and the use of tinted spectacles or contact lenses to manage the glare from unimpeded light entry into the eye. Although this is a rare disorder, it is of note as sporadic cases of aniridia are associated with malignant kidney disorders (including nephroblastoma, Wilm’s tumour), making a referral to paediatric and genetic services necessary.

7.6.10 Summary Children with visual and ocular disorders form a heterogeneous group, with differing ocular and systemic disorders, and visual, other sensory, motor and global developmental impairments which impact the level and type of support they need in order to function to their full capabilities. Diagnosis often requires a full ophthalmic assessment in a specialised setting, which may not be available to many of the children at risk across the world, and a thorough ophthalmic assessment may also form an important part of the eventual diagnosis of a systemic disorder. The ophthalmic care as well as a multi-disciplinary approach will ensure that these children have the best chance at the best functional and overall health outcome.

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8

Evaluating School-Aged Children with Visual Disabilities Diane B. Whitaker and Elana M. Scheiner

Abstract

There is no aspect of a child’s development that is unaffected by vision. Interpreting or localizing targets is much easier for those items visual in nature as compared with other sensory perceptions. This chapter outlines low-vision rehabilitation (LVR) early diagnosis and intervention procedures for children with visual conditions, low vision, and blindness. We place emphasis on a discussion of evaluation and treatments that will be useful for parents and caregivers of children with special health care needs (CSHCN). Early intervention, usually at the time of diagnosis of ocular disease is necessary to prevent needless frustration and anxiety for the child and their parents about their prognosis for continued visual functioning, no matter the level. All of a child’s healthcare providers should play a collaborative and supportive role during a child’s developmental years to insure each one meets their unique and optimal potential so that they may grow into well-rounded, fully functional adults who are able to participate in and contribute to society in a meaningful way. Abbreviations

DMV Department of Motor Vehicles IEP Individualized Education Program LVR Low Vision Rehabilitation MVA Motor Vehicle Accidents NC-APVI North Carolina Association for Parents of Children with Visual Impairments NoIR No Infra-Red light filter

D. B. Whitaker () Duke University Eye Center, PO Box 3802, Durham, NC, USA e-mail: [email protected] E. M. Scheiner Family Eye Care of Apex, 113 Salem Towne Court, Apex, NC 27502, USA e-mail: [email protected] D. Hollar (ed.), Handbook of Children with Special Health Care Needs, DOI 10.1007/978-1-4614-2335-5_8, © Springer Science+Business Media New York 2012

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O&M Orientation and Mobility Specialist OT Occupational Therapist PRL Preferred Retinal Locus TVI Teacher of the Visually Impaired UV Ultraviolet

8.1 Introduction There is no aspect of a child’s development that is unaffected by vision. Interpreting or localizing targets is much easier for those items visual in nature as compared with other sensory perceptions. Therefore, vision is a necessary tool for children to gain a consistent and organized view of the world (Brennan et al. 1992). LVR is the discipline of comprehensive evaluation of visual function, identification of visual goals, and the recommendation and prescribing of assistive and adaptive devices and training for individuals who have experienced irreversible vision loss of any origin. The ultimate goal of vision rehabilitation is to enable the child to be able to participate in a meaningful way in mainstream society. Worldwide, there are an estimated 180 million people who have a visual impairment. Among them, 45 million are blind and 135 million have partial sight. In other words, there are three times as many visually impaired people than those who are legally blind. Moreover, legal blindness is 200 times more frequent in individuals with handicaps than in those without handicaps (Halton 2001). Vitamin A deficiency is the leading cause of childhood blindness, responsible for an estimated 70% of the 500,000 children who become blind each year (Thylefors et al. 1995). The data indicate that the predominant causes of blindness among children in the poorest countries of the world include: corneal scarring due to Vitamin A deficiency, measles infection, ophthalmia neonatorum, and the effects of harmful traditional eye remedies (Gilbert and Foster 2001). A study of children in schools for the blind in the United States revealed that 19% of 2,553 children were cortically blind, and 12% had visual loss from optic atrophy or optic nerve hypoplasia (Steinkuller et al. 1999). Among children

D. B. Whitaker and E. M. Scheiner

of age 5 and younger, prenatal cataract is the leading cause of legal blindness accounting for 16% of all cases, followed by 12% with Optic Nerve Atrophy and 9% with Retinopathy of Prematurity (Kahn et al. 1977). In general, cataracts alone do not cause blindness, but secondary eye conditions such as sensory nystagmus exacerbate blindness. Among students who have disabilities, students with sensory impairments are the most likely to graduate from secondary school with 73% of those with visual impairments doing so (Kaye 2002). Ideally, a child should be referred to a LVR specialist before they start school. Comprehensive vision rehabilitation is performed by an optometrist or ophthalmologist trained in vision rehabilitation. The supervising physician will take into account all aspects of the child’s physical, cognitive, and visual ability. Other allied healthcare professionals may perform various aspects of the evaluation under the supervision of the vision rehabilitation physician. Ultimately, however, it is the physician’s responsibility to develop the comprehensive vision rehabilitation plan that will guide the visually impaired child’s rehabilitation process. The physician also should systematically reevaluate the child’s progress and modify the interventions, as needed. The comprehensive LVR examination is elemental on many levels. The primary intervention is the recommendation of appropriate aids to benefit the child in the classroom and in the community. Of equal importance is the training on the use of these devices since poor training is a major obstacle to compliance with and efficiency of device utilization. Furthermore, the parents are educated on their child’s abilities and limitations and given appropriate expectations for their child’s visual capabilities which can often be underestimated. Often times the parents have already heard the phrase “there is nothing more that can be done” regarding their child’s ocular condition since medical and surgical interventions may have been exhausted or maximized. Subsequently, parents will often limit their expectations for their child’s future success. LVR equips parents of children with disabilities to participate in the process of

8 Evaluating School-Aged Children with Visual Disabilities Table 8.1 Six levels of visual impairment Visual impairment status Minimal Moderate Severe Profound Near total Total

Visual acuity in better eye >20/60 <20/60 ≤20/200 ≤20/400 ≤20/1,000 No Light Perception (NLP)

Visual field in better eye

≤20° ≤10°

their child’s success by providing them with the resources and information they need.

8.1.1 Visual Impairment Classifications Vision loss is not an all or none phenomenon, as many inaccurately presume. In fact, the majority of individuals with vision loss have some level of remaining usable vision. Visual impairment is classified by the level of visual acuity and remaining visual field. There are six levels of visual impairment based on these criteria. The standard definition of “legal blindness” is bestcorrected vision of 20/200 or less in the better eye using standard Snellen chart or less than 20° of remaining visual field with a Goldmann III4e target in the better eye (Table 8.1).

8.1.2 Early Intervention The importance of early intervention cannot be overstated. There are developmental, psychosocial, and physical-motor advantages for children receiving early intervention. Psychosocially it has been shown that the earlier in life a child is exposed to assistive devices, such as magnifiers and telescopes, the more likely they are to accept device usage without fear of being “different” from their peers (Ritchie et al. 1989). For example, a very young child may accept any device that will enable them to perform a desired task, such as spotting a map on the back of a cereal box. However, that same child after the age of 10 years might resist the device’s benefits based on aesthetics and wanting to fit in with their peers.

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It is imperative that a formal low-vision evaluation be performed before device usage is initiated. Ideally, the child will already have a support team in place to implement the vision rehabilitation plan in the child’s home and classroom settings. The support team consists of, at a minimum, a parent, a teacher of the visually impaired (TVI), and an orientation and mobility specialist (O&M) working under an IEP. Occupational or physical therapists, audiologists, and speech therapists may be part of the vision rehabilitation team, making LVR a multidisciplinary intervention.

8.2 LVR Evaluation The LVR examination begins at an initial contact noting if the child initiates and maintains eye contact, demonstrates a head turn or tilt, or has a physical disability. The child’s gait is observed to see if they are able to ambulate independently. For example, if they suffer from central field loss, they may walk quickly and locate the examination chair without difficulty, but if they suffer from a field constriction, they move more slowly and cautiously with the aid of another individual or parent. The visual rehabilitation examination is unlike primary care ocular evaluations in which the focus is on ocular health rather than visual function. There is added emphasis on public safety, optimal development, and achievement of functional goals in the classroom that will translate into success in the external environment.

8.2.1 Comprehensive Medical History A thorough, comprehensive medical history is taken, including a review of the individual’s ability to perform activities of daily living. This initial discussion tends to lessen the child’s anxiety as they realize their goals will be addressed, possibly, for the first time. Information about the onset, duration, and prognosis for progression of the visual condition is useful in predicting the child’s level of adjustment to vision loss. Children born with vision loss

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as the result of a nonprogressive disease process will tend to adapt more easily since they have no previous visual habits to overcome. Conversely, a child born with normal vision that develops a progressive disease in late childhood or early adolescence will tend to have greater difficulty adjusting to loss of visual function throughout the disease process. In addition, an inventory of current optical aides is taken to determine what the child is using and how well it is working. Many times the parents or other members of the support team can provide valuable insight into the child’s level of function with each device. Parents or the TVI may have specific goals for the child with their devices. These goals may be delineated in the TVI’s functional evaluation, which may be performed before the low-vision examination. For example, the child may not see the blackboard seated in the front row of the classroom, which may be 8–10 feet away; or, the child may be experiencing difficulty with near or intermediate tasks, such as writing or computer work. Parents may also have functional goals for the child at home, such as the ability to prepare their own food or perform specific chores. Both the parents and the child may share goals that relate to community participation in social and sporting events, as well.

8.2.2 Visual Acuity Visual acuity is defined as the ability to resolve detail and is assessed by the smallest identifiable object that can be seen at a specific distance, usually 20 feet for distance measurements and 16 inches for near. However, children with visual impairment tend to read with a much closer working distance, even a few inches from their noses, if their acuity is significantly reduced. Therefore, near acuity should be measured at the preferred or optimal viewing distance. Repeated and consistent measurements are necessary since performance at any given time can be affected by numerous issues, such as cooperation and fatigue. Hand helds or charts on a rolling stand provide multiple advantages. These include better van-


tage point for the examiner to observe the child’s eye movements, easier mathematical conversion of visual acuity, and the ability to vary illumination without sacrificing contrast. Distance visual acuity measurements are usually performed at 6–10 feet but can be performed closer when visual impairment is more profound. A plastic or cloth patch is used to occlude the better seeing eye. Some argue that the worse eye should be patched first as to encourage the child with a success-oriented examination. However, by testing the poorer seeing eye first, memorization of chart is not as likely. It should be noted that there are children who may not tolerate a patch. In those cases, the child may sit on the parent’s lap and the parent may use their hand to occlude the appropriate eye during the initial acuity measurement. Visual acuity is measured with and without correction. It is also important to note which type of overhead lighting yields optimal vision for the child during this test, as variations in illumination can affect performance. The acuity assessment also reveals the optimal eccentric viewing position. It is common for ocular pathology to rob the child of either peripheral vision (Glaucoma or Retinitis Pigmentosa) or central vision (Stargardt’s Disease or Ocular Albinism). See Table 8.2 for eye pathologies and associated functional challenges (Brennan et al. 1992). Usually in cases where the central vision is impaired or a scotoma exists, an area of viable retinal tissue near the dysfunctional macula can be used to fixate and becomes known as the preferred retinal locus (PRL). The PRL allows for viewing eccentrically or away from center (Whittaker et al. 1988). It is important for the child’s support team to recognize eccentric viewing since it might appear that the child is not paying attention or being rude or disrespectful when not looking an adult “in the eye”. A child with a central scotoma will need to move their eyes or head when viewing eccentrically, and the parents and support team should recognize this as natural and necessary. For children who do not know the alphabet or who are nonverbal, LEA symbols that have a series of four repeating symbols (see Fig. 8.1)

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8 Evaluating School-Aged Children with Visual Disabilities Table 8.2 Eye pathologies and common functional problems. (Brennan et al. 1992) Pathology Albinism

Secondary conditions Nystagmus

Aniridia

Variable Glaucoma, cataracts, nystagmus, displaced lens, corneal opacification Glaucoma, retinal Nonprogressive detachments

Aphakia

Prognosis Nonprogressive

Cataracts

Glaucoma

Coloboma of Iris or choroid Cortical visual impairment

Microphthalmia

Progressive to total opacification Nonprogressive

Eye is normal upon examination

Some early improvement possible

Nystagmus

Usually is an accompanying condition Glaucoma, retinal detachments, cataracts Corneal edema and scarring, optic atrophy

Diabetic retinopathy Glaucoma Hemianopsia Optic atrophy Optic nerve hypoplasia Pathological myopia Retinitis pigmentosa Retinopathy of prematurity (ROP)

Nystagmus

Peripheral field distortions, loss of accommodation, poor depth perception, glare/photophobia Scotomata, glare/photophobia, constricted pupil Visual acuity loss, visual field loss

Visual abilities fluctuate, poor depth perception, sees best when moving, tunnel vision common Nonprogressive Possible fixation difficulty, reduced acuity Progressive Gradual loss of vision, fluctuating vision Progressive and Constricted visual fields, night blindnonprogressive ness, light adaptation, glare/photophobia, effects of medication Nonprogressive Loss of half of visual field, reading struggles Progressive and nonpro- Scotomata gressive forms Nonprogressive Visual field loss, visual acuity loss

Retinal detachments, cata- Progressive racts, macular hemorrhaging, amblyopia Cataracts, glaucoma Progressive Myopia, cataracts, glaucoma, strabismus, retinal detachments, retinopathy

Common functional problem Glare/photophobia, nystagmus, congenitally poor visual acuity Poor light adaptation, glare/ photophobia

Dependent on severity

house, heart, circle, and square can be used for matching purposes. The child is asked to look at the symbol being presented to them and point to the corresponding symbol placed on their lap.

8.2.3 Contrast Sensitivity The issue of contrast sensitivity is another factor that may be assessed during the low-vision evaluation or it may be referred to the TVI. Contrast sensitivity refers to the ability to see differences in the brightness of objects against their

Peripheral field distortions Constricted visual fields, glare/photophobia, night blindness, poor light adaptation High levels of illumination

background. Ocular pathologies that can affect contrast sensitivity include Optic Atrophy, Cataracts, Glaucoma, Aphakia, Achromatopsia, and any media opacity. If contrast sensitivity is reduced, it can impact facial recognition, reading efficiency, and safe mobility on steps and curbs. Contrast sensitivity will also influence the types of devices that may be used to improve functional ability. High-contrast nonoptical aids like bold-lined paper, writing guides, and computer keyboards are often used to maximize performance.

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Fig. 8.1 Visual acuity assessment scale using nonverbal LEA symbols that have a series of four repeating symbols

Teachers should understand the importance of contrast in the classroom when using dry erase or chalk boards. For example, a red marker on a white board will be more difficult to see than a black one. A black chalk board with white chalk will be much easier to see than a green board and colored chalk. Electronic presentations should also maximize contrast by limiting color on color slides. Black-lined paper and notebooks will be easier to use than blue or green ones. The trim and wall colors in the classroom should also be painted in contrasting colors to allow the child to find doorways, windows, and exits with greater ease. Furniture should be selected that is a contrasting color to floors and walls, as well.

8.2.4 Ocular Motility and Alignment Binocular status is measured and observed to determine if the child uses both eyes together simultaneously or if strabismus (eye turn) is present. In the general population, strabismus is found in about 5% of children. However, certain

populations will have an increased incidence of strabismus. For example, about 50% of cerebral palsy patients will have strabismus—a tenfold increase (Gnadt and Wesson 1992). The child’s ability to follow a moving target with each eye is assessed to determine whether eye movements are smooth and accurate or not since this is critical for reading and tracking moving objects. Smooth pursuits are also necessary for mobility and physical motor coordination.

8.2.5 Visual Field Visual field testing should be performed to localize scotomata (blind spots) or areas of peripheral constriction. Scotomata located in the central 30° around fixation can be evaluated with Face Fields in children able to understand the directions provided by the examiner. The examiner is seated at eye level with the child who has one eye covered. The child is asked to locate the examiner’s nose and describe any areas on the examiner’s face that are missing, blurred, or distorted. The test is performed with the better seeing eye first to

8 Evaluating School-Aged Children with Visual Disabilities

ensure the child understands the test. Amsler grid testing may be performed in older children for the same purpose. Peripheral visual field evaluation can be performed on children by confrontation visual field (CVF) testing. During CVF testing, the child is asked to count the number of fingers presented in each quadrant (superior, inferior, nasal, and temporal) or to identify an object in each quadrant while one eye is occluded and central fixation is maintained. Older children may be able to perform static or kinetic perimetry using an automated or a manual perimeter. This type of testing provides the exact diameter of visual field in degrees and reveals the size and severity of scotomata. Goldmann visual field testing is the preferred method for perimetry since the technician performing the test can make adjustments throughout the evaluation, as needed, to insure more reliable results.

8.2.6 Low-Vision Refraction An objective measurement of refractive error is required before refraction is attempted. This measurement is usually acquired from retinoscopy or from automatic refractors. Infants and very young children cannot be refracted or scoped behind a phoropter, and automatic refractors rarely provide reliable results. Trial frame refraction is the preferred method to determine the subjective refractive endpoint since it provides a more natural feeling to the child like a pair of glasses. It also enables the child to assume his or her best eccentric view with any compensatory head turn or tilt or body posture. Cycloplegic agents are usually required to fully relax accommodation so that a true endpoint can be derived. In many cases, corrective lenses will enhance visual function with and without other low-vision devices. Once the best possible distance visual acuity is determined, near function is evaluated using a series of specially designed reading charts with text varying in size from 10 to 0.4 M. Loose lenses are used to determine whether the child may benefit from a separate pair of reading

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glasses for extended near work or not. Furthermore, if the child is not meeting reading expectations based on their distance acuity, this may indicate problems with tracking or issues related to cognitive insufficiencies (Koenig and Holbrook 1991).

8.2.7 Response to Magnification There are four types of magnification: 1. Relative distance magnification: Relative distance magnification occurs when an object is moved closer to the viewer’s eye increasing the size of the image on the retina. This principle is used when child moves closer to the board at school or to the television to see more easily. It is also the type of magnification used in high-powered reading glasses which simulate a closer viewing distance for the eye. 2. Relative size magnification: Relative size magnification occurs when an object is physically made larger to produce a larger image on the retina. The principle is demonstrated most commonly with the use of large-print books and other large-print items. 3. Angular magnification: Angular magnification is created by high-powered convex lenses which make the object of interest appear larger by altering its angular subtense on the retina. The higher the power of the lens used, the greater the amount of magnification created. However, the greater the magnification, the smaller the field of view of the device; therefore, magnification and field of view must both be considered. Hand-held magnifiers, stand magnifiers, and telescopes utilize this type of magnification. Angular magnification can be especially useful when central blind spots are present because they enlarge the information around the blind area, which effectively makes it smaller and less bothersome. 4. Electronic or projected magnification: Electronic or projected magnification is created by digital cameras. Some examples of electronic magnifiers are closed circuit televisions (CCTV’s) and some types of computer mag-

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Fig. 8.2 Hand-held magnifiers come in different colors and stand magnifiers come in shapes of various animals

nification software. Electronic magnification is the optimal type of magnification because it allows the greatest amount of magnification with the least restricted field of view and allows for contrast to be enhanced, as well. Electronic devices may also be more socially acceptable since many children use personal electronic devices, such as video game players and computers. These devices are available in both desktop and portable versions.

8.2.7.1 Near Magnifiers The hand-held magnification evaluation is performed to determine which type and power of magnifier will best suit the child. This is can be done using numbers on a Feinbloom near card which controls for crowding with a typoscope. Observation of device handling assists in identifying potential near-spotting difficulties the child may encounter which will ultimately determine which type of device is more acceptable. Magnifiers can be hand held above the object of interest or can stand flat against it. For spotting a detail on a cereal box or toy, a hand-held magnifier might work best. However, for classroom purposes, the stand magnifiers enable the child to see something clearly on a worksheet, take notes, and view objects at a distance with minimal interruption. With younger children the goal is to get them excited about using the device to ensure compliance with it. Hand-held magnifiers come in different colors and stand magnifiers come in shapes

of various animals (Fig. 8.2). The younger a child is exposed to low-vision aids, the greater the likelihood of them using those aids as they get older, which is needed to maintain a high level of visual function in school and ultimately in the workplace (Cowan and Shelper 1990). Even preschoolers may be exposed to these devices to begin to mold their psyches and to demonstrate that it is acceptable for them to use an aid since it will enable them to function at a level consistent with their more-sighted peers.

8.2.7.2 Distance Devices Typically, the most exciting part of the examination from a child’s perspective is the demonstration of telescopes (Fig. 8.3). The monocular telescope evaluation is performed using the better seeing eye or dominant eye. The TVI and O&M specialist’s functional assessment may also influence the telescope ultimately recommended. Many factors come into play when selecting a monocular for a child since comorbid conditions, such as poor physical-motor control (Cerebral Palsy), limited cognitive ability (Down syndrome), photosensitivity and glare issues (Ocular Albinism), and reduced peripheral fields (Glaucoma) can compound visual disability. Telescopes provide magnification of distance objects, but like near magnifiers, the field of view decreases with increasing magnification. Therefore, adequate visual field diameter is needed and should be measured prior to telescope demonstration.


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Fig. 8.3 Distance devices—telescopes

Furthermore, different types of telescopes possess different characteristics such as the optical quality, light-gathering ability, focal length, field of view, durability, cost, and availability. Other considerations for telescope type include the physical size of child’s hand versus the size of the telescope, portability, cosmesis, ease of use, and personal preference. Manual and auto-focusing telescopes are available and the type selected is dependent on the previously mentioned characteristics of the individual using the device. It is important to stress to the patient and the parent that the goal is better function and not necessarily to see 20/20 with the device. It is equally important to stress that telescopes are spotting devices that are not used for continuous viewing due to the resultant limited field of view. Monocular telescopes are especially useful when dealing with younger children learning orientation and mobility techniques, such as target localization, scanning, and overall proprioception. Some begin with a “pre-telescope” such as a paper towel tube to emphasize the basic idea of the shape of the device as well as the inevitable limited field of view. Ultimately, the telescopes can be mounted in spectacles depending on either their academic or vocational needs. Spectacle-mounted bioptic (Fig. 8.4) telescopes may be used for spotting a blackboard or signs which requires the telescope to be mounted toward the top of the spectacle lens. This allows

the child to view the majority of the time through the spectacle lens carrier which may include correction of refractive error. To use the telescope the child simply depresses their chin to view through the scope long enough to identify the object of interest. This type of system does not interfere with ambulation. Subsequently, bioptic telescopes can be used in some states for driving. Full diameter telescopes are mounted centrally which is useful for either television viewing or extended computer work. Due to the limited field of view of the scope, the child needs to be stationery to use it. Some full diameter telescopes can be outfitted with a reading lens or cap that allows the device to be used for distance and near tasks. Binocular telescopes can be used in cases when both eyes have fairly equal visual ability. However, this is not always the case.

8.2.8 Lighting and Glare Control 8.2.8.1 Absorptive Filters Filter evaluation addresses glare which is associated with many ocular diseases. Glare and light sensitivity are particularly troublesome with Ocular Albinism and Aniridia. Lighting and glare go hand-in-hand. Illumination has a powerful impact on all other functions. Quantity and wavelength of light can be controlled by many different types of filters, such as in ultraviolet (i.e., UV) shields or No Infrared light

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Fig. 8.4 Spectaclemounted bioptic telescopes

Fig 8.5 NoIR filters

(i.e., NoIR; Fig. 8.5) filters. Colored filters filter out specific wavelengths of light which can be problematic in different disease processes. NoIR filters vary in percent of transmission of light with the lighter shades allowing a higher percent transmission than the darker ones. These are useful in varying light levels, such as indoors and outdoors. Photochromatic lenses darken when exposed to UV-light outdoors and lighten in ambient-light

indoors. Many colors of photochromic lenses are available and provide the convenience of varying levels of transmission in one pair of glasses. Photochromic lenses are available in many different lens materials; however, glass photochromatic spectacles should never be prescribed for children due to safety concerns. It is not uncommon to prescribe different filters to accommodate the child’s lifestyle and daily environment, which is rarely a constant. As


every individual is different, filter recommendations are always dictated by the type of ocular pathology and the child’s expressed symptoms of photophobia or glare.

8.2.8.2 Full-Spectrum Lighting Proper illumination is critical for optimal visual function. The type, direction, and intensity of the light are important to reduce unwanted, bothersome glare, to maximize contrast and allow for truer color perception. In general, full-spectrum or daylight type lights allow for these factors. Unfortunately, many schools rely on fluorescent or other types of low-energy light sources that do not allow for optimal viewing. Whenever possible, adjustments should be made at home or in the classroom to allow for optimal lighting.

8.3 Vision Rehabilitation Plan The ultimate product of the LVR evaluation is formulation of the physician-generated comprehensive vision rehabilitation (VR) plan of care for each child. The LVR plan of care can be reflected in the IEP for the professionals working with the child in the school setting, such as the TVI. Individual physician orders may also be written for orientation and mobility assessment and training, and evaluation and training by OT’s or speech therapists. The comprehensive plan should also cover all aspects of functioning outside of the school setting to insure public safety and maximum community participation.

8.3.1 Role of TVI One of the most valuable referrals a low-vision doctor can make is for the TVI to conduct a learning and reading media assessment that truly measures a child’s fluency with regular print using reading glasses or a magnifier, compared with large print or Braille. Visual efficiency and factors of fatigue must be considered when weighing media options to provide sustained ability to perform required tasks. While the definition and purpose of the learning media assessment are

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well defined by the State Board of Education and Individuals with Disabilities Act, the exact definition of literacy, with regards to visual impairment, is left unclear. The learning media assessment has three areas of focus with the most vital being the efficiency with which the student gathers information from various sensory channels including visual, tactual, and auditory. This leads to the selection of the initial literacy medium, which can begin at infancy and continue through formal literacy instruction. Some students require more than one literary medium to be successful in school. A student might need Braille for taking notes, speech output on the computer, a scanner or audiotapes for reading novels, and large print for math. A child’s personal journey to literacy is subsequently shaped by the recommendations made in the LVR plan of care. The TVI is trained to try nonoptical aides for the child’s benefit when necessary. Examples include external light sources, such as gooseneck lamps with rheostats, colored filters over near work to enhance contrast, line guides, and typoscopes. Typoscopes can be useful to minimize glare from a worksheet and enhance the contrast of the reading material and reduce visual clutter. Slant boards or reading stands help alleviate head and neck strain created by devices that require closer working distances for near tasks. Moreover, the task of addressing all the contributing factors inhibiting or allowing for fluent near function falls under the umbrella of the TVIs. As previously mentioned, visual function is shaped by the child’s adjustment for crowding, clutter, color, contrast, and size of the text. In addition, physical factors, such as subtle fatigue, distracting noises, and even blood sugar, and body temperature fluctuations may also affect function (Bistrian 2003).

8.3.1.1 IEP IEP is a written plan of care for each child and includes levels of performance, annual goals, services to be provided, and procedures for evaluating progress. An IEP conference is held yearly to develop the details of the plan and is attended by

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all personnel providing services to the child, as well as parents, and a school district representative. Key school staff and the child’s parents develop the IEP. Each specialist writes their own portion of the final plan. Typically the IEP’s are updated every 3 years. Therefore, it is recommended to repeat the lowvision examination at least every 3 years to establish new goals and/or to address reduced function from progressive vision loss.

8.3.1.2 Mainstreaming Enabling a child to participate in the least restrictive academic environment possible is referred to as mainstreaming. Mainstreaming is dependent upon the individual child’s abilities and skills acquired through their current age/stage. Consequently, the decision to place a child in a mainstream classroom requires collaboration of the support team and is based on the assessed specialized needs of that child. Since federal law mandates that free appropriate public education is to be made available to all children with handicaps between the ages of 5 and 22 years, open lines of communication are very important. Parents should be counseled regarding what they should expect from the child in the coming years. They must understand that the aides are not a cure or reversal of the ocular pathology and that the child will need them to function. Furthermore, the low-vision doctor disseminates the Plan of Care (POC) to all other care givers so that parents and teachers are properly educated about the child’s condition and the specific components of the LVR plan for the classroom and home settings are outlined. 8.3.1.3 Comorbid Disabilities Of particular importance is comorbid cognitive impairment in the presence of ocular disease. Typically, the parents of such children believe the source of their child’s limited academic success is the ocular disease, when, in fact, the visual impairment is secondary to a cortical impairment. In addition, with a child that has multiple handicaps, visual impairment may not be the most limiting condition for that child. Moreover, when the appropriate assistive devices are available in the


classroom, the child’s visual impairment should never be a reason for a learning disability.

8.3.2 Role of Orientation and Mobility Ocular disease can impose significant restrictions on a child’s ability to move about freely and without hesitation when in an unfamiliar environment. If a child avoids play and motor activities, bumps into objects, stumbles and falls on steps or curbs, their self-image can be profoundly affected. The O&M specialist possesses the skills necessary to train the child to ambulate safely, efficiently, and comfortably in various situations. Children with visual impairment need to be oriented, in a sense, understanding where they are in space with regards to other surrounding objects so that they can realize purposeful and safe mobility. Even if the child has only light perception vision, a sense of orientation is essential. Subsequently, the O&M specialist trains the child to use their remaining senses to maximize their success, such as hearing, proprioception, tactual sensation, and kinesthetic awareness, in addition to any residual vision. They also train the child to improve visual efficiency with and without the monocular telescope for fixating, tracking, scanning, localization, and spotting. This training is critical to develop a foundation of skills that will inevitably serve them for life. Even infants and preschoolers can learn sensory skill development, self-initiated purposeful movement, motor development, and environmental and community awareness.

8.3.3 Role of Occupational Therapy 8.3.3.1 Counseling Young Drivers One of the major milestones in an adolescent’s life is receiving their driver’s license. Driving is a privilege with substantial risk and associated liability; therefore, decisions to allow teenagers with visual impairment to drive should be made by consensus of the parents, the certified driving instructor, the occupational therapist (OT) and the LVR specialist.


The sensory threshold measurements of visual acuity and visual field diameter dictated by each state’s Department of Motor Vehicles (DMV) are not measures of sustained ability, much less driving performance. Therefore, no young driver with a visual limitation should be allowed to participate in mainstream driver’s education until they have a comprehensive LVR evaluation and a referral is made for a behind-the-wheel assessment by a certified driving instructor. Many times, an OT specializing in driver’s training can also be a valuable player in determination of driving ability, as well as serve as a resource for nonconventional driver’s education. Visual acuity and visual field requirements vary from state to state. It is important to have this information available when discussing the possibility of driving with parents and their visually impaired teenager. As previously mentioned, many states allow for the use of bioptic telescopes to enable driver’s to spot signs and other objects more easily. It is critical that drivers be trained on how to use these devices before they use them behind-the-wheel since they create restrictions in field of view and changes in visual perception. Subsequently, many states have strict training protocols for telescope usage. It is important to note that the telescope is to be used for spotting purposes only and that the individual should be viewing through the carrier about 95% of the time while driving. O&M specialists and OTs are instrumental in training the proper use of telescopic devices both while ambulating and behind-the-wheel. Although some states do not have visual field requirements for driving, numerous studies have shown that peripheral visual field constriction is more difficult to compensate for than central vision loss while driving. Furthermore, individuals with inferior visual field deficits and homonymous visual field loss are more likely to be involved in a motor vehicle accident than drivers with central defects (Coeckelbergh et al. 2002; Szlyk et al. 1995, 2005). Many states allow for vehicle modification such as ancillary external mirrors to aid the driver with restricted field of view. In some states, prismatic spectacles may be worn to allow drivers to detect obstacles in their nonseeing visual space, as well.

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Nevertheless, all discussions about driving should include input from all the reviewers involved in each case. It is important to document these discussions in the event that the driver is involved in Motor Vehicle Accident (MVA)-related litigation. Many providers shy away from these discussions because of the associated medicallegal liability, but driving privileges are a critical component to personal independence and have a tremendous impact on future vocational options. Therefore, each individual case should be reviewed carefully to insure the safety of the young driver and the public without needlessly limiting the visually impaired individual.

8.3.3.2 Activities of Daily Living The OT will also be instrumental in teaching the child how to perform activities of daily living in the home setting. OT’s can come to a child’s home and make recommendations for modifications in the home environment to insure safety and efficiency. OTs have experience working with individuals with multiple disabilities and can address total function as well as the visual challenges. Many devices are available through OTs to supplement the visual aids.

8.4 Resources for Parents 8.4.1 Parental Support Groups Each child should be referred to the appropriate agencies for support. Some examples, include, Social Services for the blind and visually impaired, early intervention programs, and mental health services, when applicable. However, it is also important to recognize the frustration and anxiety of parents of children with visual disabilities and recommend support programs for them, as well. The American Foundation for the Blind and the National Association for Parents of Children with Visual Impairments created www. familyconnect.org to offer tips on raising a child with visual impairment throughout every age/ stage and provide a place for parents to support each other and share stories and concerns.

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The North Carolina Association for Parents of Children with Visual Impairments (NC-APVI) is a nonprofit organization of parents for parents that provides parent education, networking, emotional support, initiates outreach programs, and advocates for the blind or visually impaired regarding their educational needs and overall welfare. The local state chapter can be found online at www.napvi.org. Topics of discussion include public awareness, family acceptance, discipline issues, and coping strategies.

8.4.2 Schools for the Blind State-funded schools for the blind provide community-based early intervention services for the visually impaired starting from birth up to 5-yearsold. Their Outreach Programs strive to ensure that no child with visual impairment slips through the cracks of the system. Children with vision loss can learn independent living skills and ADL strategies through these academic-based institutions. Schools focus on teaching living skills needed by the visually impaired, i.e., assistive technology, orientation and mobility, career exploration, independent living skills, low-vision devices, and instruction in Braille/Nemeth codes. They also cover the same academic curricula as the public schools; but in a unique environment. The length of time a student stays at a blind school depends on the vision-specific goals dictated in their IEP and how quickly (or not) the child meets those goals. The IEP is reviewed at least annually to decide if continued placement is necessary. There really is no average length of stay; however, most children usually stay between 2 and 3 years.

8.4.3 Psychosocial Considerations 8.4.3.1 Device Compliance Of particular importance is aesthetics when considering which aides to prescribe, since the child’s peers will inevitably affect acceptance of the aide. In essence, there must be an undeniable need for the recommended aid and the ability


to efficiently manipulate it. The more “mainstream” the device appears, the more likely the child will accept it. Hence, the evolution of smaller, portable electronic magnifiers will offer more acceptable options to children with visual challenges.

8.4.3.2 Adjustment to Loss Grief is the normal response to real or perceived loss. However, when a child or their parents seem to demonstrate persistent difficulty adjusting to the vision loss, professional evaluation and counseling by a social worker or clinical psychologist may be indicated. For children demonstrating signs of clinical depression, a referral to child psychiatrist is warranted. Pediatric depression scales, such as the Children’s Depression Inventory (CDI), can be administered to screen for potential depressive symptoms in children as young as 7 years of age.

8.5 Conclusion Given that more children are now surviving infancy with inherited or congenital visual disorders, and considering the importance of reading in education, the demand for LVR interventions for those children in need is increasing. Early intervention, usually at the time of diagnosis of ocular disease, is necessary to prevent needless frustration and anxiety for the child and their parents about their prognosis for continued visual functioning, no matter the level. As mentioned previously, early intervention usually creates early acceptance of both the disability and the devices that improve function. Healthcare workers may incorrectly assume that the child has already been referred for vision rehabilitation services by the child’s eye-care provider, but this may not always be the case. Therefore, it is important for all healthcare providers who work with children to be aware of LVR resources available in their area. LVR is a multidisciplinary intervention. LVR professionals must rely on the expertise of each support team member to provide the maximum benefit to the child. All of a child’s healthcare


providers should play a collaborative and supportive role during a child’s developmental years to insure each one meets their unique and optimal potential so that they may grow into wellrounded, fully functional adults who are able to participate in and contribute to society in a meaningful way.

References Bistrian, B. R. (2003). Clinical aspects of essential fatty acid metabolism: Jonathan Rhoads Lecture. Journal of Parenteral and Enteral Nutrition, 27(3), 168–175. Brennan, V., Ryu, F., & Lolli, D. (1992). Enhancing the use of functional vision. In: Perkins activity and resource guide: A handbook for teachers and parents of students with visual and multiple disabilities (Vol. 2, Chap. 17, pp. 17–45). Urbana: Perkins School for the Blind, University of Illinois. Coeckelbergh, T. R., Brouwer, W. H., Cornelissen, F. W., Van Wolffelaar, P., & Kooijman, A. C. (2002). The effect of visual field defects on driving performance: A driving simulator study. Archives of Ophthalmology, 120, 1509–1516. Cowan, C., & Shelper, R. (1990). Techniques for teaching young children to use low vision devices. Visual Impairment, 84, 419–421. Gilbert, C. E., & Foster, A. (2001). Childhood blindness in the context of Vision 2020—The right to sight. Bulletin of the World Health Organization, 79, 227–232. Gnadt, G., & Wesson, M. D. (1992). A survey of the vision assessment of the developmentally delayed and multi-handicapped in university affiliated programs (UAPs). Journal of the American Optometric Association, 63, 619–625.

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Halton, D. (2001). Model registry of early childhood visual impairment: First year results. Journal of Visual Impairment & Blindness, 95(7), 418–433. Kahn, H. A., Leibowitz, H. M., Ganley, J. P., Kini, M. M., Colton, T., Nickerson, R. S., & Dawber, T. R. (1977). The Framingham Eye Study. I. Outline and major prevalence findings. American Journal of Epidemiology, 106(1), 17–32. Kaye, H. S. (2002). Activity limitation in the National Health Interview Survey: Effect of the 1997 revision on measuring disability (Disability Statistics Working Paper No. 0201). San Francisco: University of California, San Francisco. Koenig, A. J., & Holbrook, M. C. (1991). Determining the reading medium for visually impaired students via diagnostic teaching. Journal of Visual Impairment & Blindness, 85(2), 61–68. Ritchie, J. P., Sonsken, P. M., & Gould, E. (1989). Low vision aids for preschool children. Developmental Medicine and Child Neurology, 4, 509–519. Steinkuller, P. G., Du, L., Gilbert, C., Foster, A., Collins, M. L., & Coats, D. K. (1999). Childhood blindness. Journal of American Association for Pediatric Ophthalmology and Strabismus, 3, 260–332. Szlyk, J. P., Pizzimenti, C. E., Fishman, G. A., Kelsch, R., Wetzel, L. C., Kagan, S., Ho, K. (1995). A Comparison of driving in older subjects with and without age-related macular degeneration. Archives of Ophthalmology, 113, 1033. Szlyk, J. P., Maher, C. L., Seiple, W., Edward, D. P., & Wilensky, J. T. (2005). Driving performance of glaucoma patients with peripheral visual field loss. Glaucoma, 14(2), 145–150. Thylefors, B., Negrel, A. D., Parajasegaram, R., & Dadzie, K. Y. (1995). Global data on blindness. Bulletin of the World Health Organization, 73(Pt 1), 115–121. Whittaker, S. G., Budd, J., & Cummings, R. W. (1988). Eccentric fixation with macular scotoma. Investigative Ophthalmology & Visual Science, 29, 268–278.

9

Oral Health Access Issues for Children with Special Health Care Needs Nancy J. Murray and Mary Anderson Hartley

Abstract

Maintaining good oral health is crucial for all children; all require consistent age-appropriate daily care. Most children with special health care needs have the same dental routines and can see the same dentists as their typical peers. Untreated dental conditions in children with special health care needs and particularly those with disabilities and significant health conditions can result in very serious behavioral and medical results. Due to higher medication usage, the physical characteristics associated with many disabilities, and the comorbidities that contribute to compromised health status, these children have an increased need for consistent and high quality dental care. This population suffers from reduced capabilities for daily hygiene, reduced number of professionals accepting them or their insurance, and less didactic and clinical training for dental professionals to make them more comfortable and competent with treating individuals with disabilities. Many advocates are working diligently on multiple strategies to solve the access issue for those children with special health care needs who are most at risk. Abbreviations

AADMD American Academy of Developmental Medicine and Dentistry AAPD American Academy of Pediatric Dentistry ACA Affordable Care Act ADA American Dental Association ADA Americans with Disabilities Act AHRQ Agency for Healthcare Research and Quality CDC United States Centers for Disease Control and Prevention

N. J. Murray () · M. A. Hartley ACHIEVA, 711 Bingham Street, Pittsburgh, PA 15203, USA e-mail: [email protected] M. A. Hartley e-mail: [email protected] D. Hollar (ed.), Handbook of Children with Special Health Care Needs, DOI 10.1007/978-1-4614-2335-5_9, © Springer Science+Business Media New York 2012

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CHDIR CDC Child Health Disparities and Inequalities Report CHIP Children’s Health Insurance Program CMS United States Center for Medicaid Services CODA Commission on Dental Accreditation COPD Chronic Obstructive Pulmonary Disease/Disorder CSHCN Children with Special Health Care Needs DDS Doctor of Dental Sciences DHPSA Dental Health Professions Shortage Areas EPSDT Early and Periodic Screening, Diagnosis, and Treatment GAO United States Government Accountability Office HHS United States Department of Health and Human Services HRSA United States Health Resources Services Administration IV Intravenous MD Medical Doctor MPH Master of Public Health academic degree MUP Medically Underserved Population NADP National Association of Dental Plans NIDCR National Institute of Dental and Craniofacial Research NYSOPDD New York State Office on Persons with Developmental Disabilities SCDA Special Care Dentistry Association

9.1 Introduction As we embrace the new century, the leaders, lawmakers, healthcare providers and citizens of this country are wondering and worrying about the future of health. How do we—as a compassionate, caring, great nation—provide access to quality care for all Americans? Not simply those who are the easiest to treat. Everyone.

N. J. Murray and M. A. Hartley It is a sad fact that many dental professionals have shied away from treating patients with special needs. Too often, patients with disabilities have been perceived as someone else’s problem. But ‘someone else’ wasn’t offering solutions either. We want every citizen with special needs to have quality oral healthcare. Every time we help one person gain access to the care he or she needs and deserves, we are saying, ‘you matter—to us and to our country.’ Every time we forge a new partnership, share our ideas, volunteer or educate ourselves, we are making a difference. I believe that if we truly work together, we can achieve our health care goals. —Eunice Kennedy Shriver

Children with Special Health Care Needs (CSHCN) are defined as “…those who have or are at increased risk for a chronic physical, developmental, behavioral, or emotional condition and who also require health and related services of a type or amount beyond that required by children generally” (McPherson et al. 1998, p. 138). Children with asthma fall into this category along with children with disabilities such as Down syndrome, cerebral palsy, spina bifida, autism, seizure disorder and other developmental, physical, and behavioral conditions. These are children who continue to experience challenges into adolescence and adulthood. Certainly, the children with more severe medical conditions or more functional limitations are most at risk for not receiving regular dental care. The majority of these children, however, should be able to see a community dentist with little modification. Surprisingly, many families are still finding it difficult to access a dentist who will see their child. Maintaining good oral health is crucial for all children; all require consistent age-appropriate daily care. Most children with special health care needs have the same dental routines as their typical peers. However, children without disabilities are generally better able to participate in their own dental care as they do not have cognitive, sensory, and/or physical limitations. CSHCN may have greater dental or gum disease due to a chronic medical condition, intellectual delay, physical limitations, or behavioral challenges that limit their ability to care for their teeth and gums and cooperate in the dental office. In addition, some children with disabilities have genetic conditions that specifically and negatively affect

9 Oral Health Access Issues for Children with Special Health Care Needs

the teeth and gums. Many take medications that adversely affect their oral health. For example, some medications are high in sugar and some can reduce the flow of saliva. Untreated dental conditions in children with special health care needs and particularly those with disabilities and significant health conditions can result in very serious behavioral and medical issues. Due to higher medication usage, physical characteristics associated with many disabilities, and comorbidities that contribute to compromised health status, these children have an increased need for consistent and high quality dental care. Professional journals are replete with studies about the connection between oral health and physical health for healthy patients; these connections have far more serious ramifications for children with more limitations. Their barriers to care are extraordinary. This population suffers from reduced capabilities for daily hygiene, reduced number of professionals accepting them or their insurance, and less didactic and clinical training for dental professionals to make them more comfortable and competent with treating individuals with disabilities. While a minority of people with disabilities may require intensive clinical care, dentists who treat this population estimate that approximately 75% of people with disabilities can be seen in a typical dental office with modest physical and behavioral support (Elwyn 2006). We know that even children who could be seen in a typical dentist’s office are often unable to access those community providers because most dentists (varies state to state, generally 75%) are unwilling to accept Medicaid (they do not feel there is sufficient reimbursement); because it may take more time (i.e., cost) to work with a patient with physical, cognitive, or behavioral limitations; because dentists are concerned about liability; or because dentists feel they lack appropriate training (in a 2004 study, 68% of students reported less than 5 h didactic training; Wolff et al. 2004) or are uncomfortable working with these patients. If families who rely on Medicaid are able to find a dentist for their children, they have trouble finding additional support such as IV sedation or specialists (orthodontists, periodontists,

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and endodontists). Families living in rural areas are likely to be traveling long distances for even basic care. For many families who are supporting a child with a disability, there generally isn’t a lot of money for out-of-pocket expenses and medical needs not covered by Medicaid. Several significant events have culminated in a national discussion about oral health care in the last ten years. Oral Health in America: A Report of the Surgeon General was published in 2000 by then Surgeon General David Satcher who noted (p. 2), “You cannot be healthy without oral health. Oral health and general health should not be interpreted as separate entities.” He further stated (Satcher 2000, p. 79): Those with disabilities and complex health conditions have “limitations in individual understanding of and physical ability to perform personal prevention practices or to obtain needed services. There is a wide range of caries rates among people with disabilities, but overall their rates are higher than those of people without disabilities.”

In fact, there is a fast growing body of evidence that links poor oral health with increased risks for systemic conditions such as heart disease, diabetes, and aspiration associated with Chronic Obstructive Pulmonary Disorder (COPD). A September 2005 article in the journal Pediatrics documented that dental care represents a significant unmet health care need of children with special health care needs—that dental care was more difficult to access than any other health services (Lewis et al. 2005). The same Pediatrics study found that more severe levels of disability increased the odds of unmet care. Given that dental services are mandated for children under Medicaid regulations, but classified as “optional” for adults, it is virtually a certainty that these levels of unmet needs persist, and most likely worsen, into adulthood. In a National Council on Disability report to President Obama and Congress in September 2009, it was stated (National Council on Disability 2009; citing Nehring 2005, pp. 159, 167): While most people who live in community-based residential settings or with friends or family had access to dentists, they had poor dental health because of lack of preventive care and inadequate

172 dental hygiene. Access to care can also pose significant problems. Case managers have indicated that dental services are more difficult to find than any other type of service for individuals with intellectual and developmental disabilities who live in the community. Families and support personnel also indicate that quality of care is lower than it should be, because dentists lack the skills required to work or communicate with people with intellectual and developmental disabilities.

Inclusion is the key for people with disabilities. While there have been specific clinics to take care of individuals where no such services exist, these should be stop-gap measures only. The coauthors of this chapter believe that people with disabilities have the right to receive their dental care in the community in which they live.

9.2 Barriers to Dental Care 9.2.1 Insurance Certainly a major barrier to access dental care is lack of dental insurance. However, for children with special health considerations and disabilities, simply having insurance may not be the solution to access. Even for those children with excellent commercial dental plans, the covered services and reimbursements vary greatly. Many of these plans do not cover the added time, expertise, and sometimes extra staff it may take to provide service to CSHCN. Insurance often does not cover the cost of anesthesia for young children. The maximum annual benefit for many dental plans is US$ 1,000–1,200 (National Association of Dental Plans 2010), which will likely not cover anesthesia, operating rooms, and other hospital expenses. Through the Children’s Health Insurance Program (CHIP) Reauthorization Act of 2009 (H.R. 2), the states are now required to cover dental services for children who qualify. States can also elect to provide CHIP for dental care if the family has existing medical insurance with no dental coverage. These programs are intended to ensure that the neediest families will be able to secure dental care for their children. Section 501 of the Act states: “IN GENERAL—The child health assistance provided to a targeted low-in-

N. J. Murray and M. A. Hartley

come child shall include coverage of dental services necessary to prevent disease and promote oral health, restore oral structures to health and function, and treat emergency conditions.” (United States Congress 2009, p. 78) Children with special health care needs may be covered by their parent’s private insurance and/or Medicaid. Depending on the limitations of their disability, some of these children receive both Medicaid and Medicare. For CSHCN, Medicaid is often used as a secondary insurance covering a myriad of services, including dental. As noted above, however, families who meet the criteria based on the poverty model and persons with disabilities who use Medicaid as their primary insurance, have long had problems finding dental providers willing to treat them.

9.2.2 Finding a Medicaid Provider In September 2007, Katherine M. Iritani, Acting Director of Healthcare, United States Government Accountability Office stated (GAO 2009a, p. 1): Children in Medicaid were almost twice as likely to have untreated cavities as children with private insurance and that the percentage of children in Medicaid who received any dental care was far below the Department of Health and Human Service’s (HHS) target for low-income children.

For children seeking dental services, most states reported that finding a provider that accepts Medicaid is a moderate or major barrier. Comparatively fewer states reported that obtaining transportation to and from the provider’s office or the ability of parents to take time off work are moderate or major barriers for children seeking dental care. For providers, most states also reported that beneficiaries not showing up for appointments and a limited capacity to accept new patients (reported by 45 and 30 states, respectively, out of 51 states, including Washington D.C.) are moderate to major barriers. (GAO 2009b) In 2007, The Washington Post, reported on the death of Deamonte Driver, a 12-year-old from Maryland whose family couldn’t find a Medicaid dentist to treat him for an abscess that spread to his brain. The cost for a routine extraction for


Deamonte would have been US$ 80. As it turned out, this untreated dental infection cost the life of a young boy and resulted in US$ 250,000 in medical bills (Otto 2007). Our recent national struggle with economic recession and high unemployment has led to an increase in the number of Medicaid beneficiaries. Medicaid-funded services for children have been strengthened through federally mandated services such as Early and Periodic Screening, Diagnostic and Treatment (EPSDT), yet several states are cutting services to adult Medicaid beneficiaries and most significantly to adults with developmental disabilities. In 2009, the Grand Rapids Press, reported that a Northern Michigan woman with an intellectual disability died as a direct result of cuts to adult Medicaid services (King 2009). At this writing, five states have significantly cut Medicaid dental benefits for adults—including people with disabilities.

9.2.3 Medicaid EPSDT Dental Services from CMS Dental services under the federal Medicaid program cover children with disabilities up to age 21 as part of Early Periodic Screening, Diagnosis, and Treatment (EPSDT; CMS 2010). From this age cutoff point plus the data in Table 9.1 (GAO 2009b), it is apparent why both children and adults with disabilities, especially those who use Medicaid, have difficulty accessing dental services. Dentists cite low reimbursement, lack of education, missed appointments, and liability risk as the primary reasons why they refuse to treat individuals with disabilities. For children under age 21, EPSDT mandates treatment; however, when those same children turn 18 or 21, access to care becomes significantly more difficult. Some pediatric dentists (those who have traditionally treated people with disabilities) may not be willing to continue care for individuals as they become adults. Whereas, the picture is rosier for children, as children with disabilities transition to adulthood, they will overwhelmingly face challenges finding a provider who will provide treatment. In addition, most people with disabilities rely

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Table 9.1 Barriers that hinder state initiatives to improve access to Medicaid Dental Services. (Source: GAO (Survey of state Medicaid directors conducted between December 2008 and January 2009)) Barriers that hinder state initiatives

States Responding (total 51 states) 44 40 38 31 13

Lack of available funding Lack of provider participation Lack of beneficiary participation Administrative burden on providers Difficulty coordinating with other state agencies Lack of CMS approval for state initiatives 5 Other barriersa 6 Note: States could select more than one barrier and may be counted in more than one category a States reported other barriers, including staffing shortages that limit the agencies’ ability to take on additional projects and cultural competency barriers, such as translating oral health information into other languages

on Medicaid as their primary health insurance. Combined with the challenges of accessing care, most adults with disabilities are unemployed or underemployed. In general, it can be very difficult to look outside of Medicaid and pay out-ofpocket for this critical health service. The federal government is starting to collect data which will indicate where the breakdown occurs that limit dental access for people with disabilities (National Center for Health Statistics 2007). There is a significant effort from federal data collection systems to ensure that standard definitions and survey questions are included on disability. The Patient Protection and Affordable Care Act 2010, states that data and quality measures will be collected regarding individuals with disabilities and in December 2010, the US Department of Health and Human Services released the Healthy People 2020 objectives. New to the objectives was DSC HP2020–2014 “Reduce the proportion of people with disabilities reporting delays in receiving primary and periodic preventive care due to specific barriers.” More recently, the CDC released a report which identified only 8 of the 22 topics include health disparities by disability status in its CDC Health Disparities and Inequalities Report (CHDIR). Federal interagency working groups are discussing strategies

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for expanding the collection of data by disability status (CDC 2011). In 2010, the Agency for Healthcare Research and Quality (AHRQ), released their report on national healthcare disparities which included dental data. AHRQ found that persons with basic activity limitations were significantly more likely than persons without disabilities to report being unable to get or delayed in getting needed dental care (11.3% compared with 6.4%; AHRQ 2009) In her article, “Dental Care and Children with Special Health Care Needs: A PopulationBased Perspective,” Charlotte W. Lewis, MD, MPH, found that dental care was the most prevalent unmet health care service for children with special health care needs, that just over 80% of CSHCN reported that they needed preventative dental care and almost 9% of CSHCN were not able to receive any dental care (Lewis 2009). Lewis highlights the fact that children with more significant disabilities are more likely to have difficulty getting care: this includes children with intellectual disabilities such as Down syndrome, children with autism, cerebral palsy and others, even if their families have the financial resources to obtain care. She discusses the possibility of this difference in the availability of hospital-based resources for dentistry and suggests that additional research needs to be done to specifically address the needs of children who are significantly affected (Lewis 2009). Children with Down syndrome may be turned away at the dental office. On its website, the National Institute of Dental and Craniofacial Research (NIDCR, www.nidcr.nih.gov), advises dentists that most children with disabilities can be treated in contemporary dental environments, in some cases requiring minor accessibility and changes in dental treatment techniques. Other studies confirm that children with cerebral palsy have the most difficulty finding practitioners who will see them, with one stating that approximately 70% of dentists rarely or never saw children with cerebral palsy (Casamassimo et al. 2004). Lewis (2009) found that dental accessibility depended upon severity of disability, with the highest unmet needs being reported for children with Down syndrome.


9.2.4 Providers—The Dentist Shortage Other, more global challenges put children with disabilities at risk. There is a looming dental shortage in the United States. There are large disparities in the distribution of dental practices between urban and rural areas, and more than onethird of all practicing dentists were over the age of 55 and edging toward retirement (Pew 2010). Even worse, pediatric dentists (those traditionally trained to serve both children and adults with disabilities) are a small portion of the total dentist population. The projected shortage is not due to the number of willing applicants to dental schools, far more troubling is a lack of faculty to instruct and train them. According to the American Dental Education Association, there are approximately 350 vacant faculty positions in existing dental schools. The problem is created primarily by most dentists’ desire to pursue lucrative careers in private practice (McKinnon et al. 2007).

9.2.5 Rural Areas As mentioned above, a central challenge for patients with special needs is location. Newly trained dentists are not moving into rural areas. They generally choose highly populated urban and suburban regions where they can develop a robust practice. Dentists practicing in rural areas likely have ties to those areas or are attracted to service in these communities by loan repayment programs funded through state and federal programs such as the National Health Service Corps. Many dentists who are seeking more lucrative offers of loan repayment may consider the armed services instead of these programs. Because most dental professionals seek urban centers, the nation has approximately 4,230 Dental Health Professional Shortage areas (DHPSAs). DHPSAs are defined by the federal Health Resources and Services Administration (HRSA) as a population of 3,000 patients to one dentist (HRSA 2009). Although urban areas can also be designated as DHPSAs, generally the higher numbers in each state are in the most remote


areas with few city centers. If you consider that most dentists do not take Medicaid patients and likely will not see children with disabilities, these ratios are likely to be even higher for persons with disabilities trying to access care. For families living in rural areas, this translates into traveling long distances to find a dental provider. Many will travel 6 hours or more roundtrip to find appropriate treatment for their child. Based on anecdotes from parents and caregivers, for a child who is in pain or needs significant treatment, who has difficulty traveling, or who must rely on Medicaid-funded transportation or buses, traveling for treatment can range from difficult to impossible. Developing new avenues of access for individuals with disabilities in rural areas has and can be supported by Federally Qualified Health Centers or Community Health Centers that provide accessible dental services. Mobile units are often discussed as a solution for rural areas—ensuring true accessibility and inclusion should be part of that planning. Loan repayment models that encourage dentists to treat children and adults with disabilities in rural areas could be initiated. New providers: expanded function dental hygienists (EFDH), dental therapists, expanded function dental assistants, and advanced dental hygiene practitioners are being piloted and deployed in rural areas. There needs to be more discussion of how best these providers can or should support persons with disabilities as they work with rural communities.

9.2.6 Other Issues Other reasons often cited as to why dentists refuse to treat Medicaid patients are missed appointments which represent loss of revenue and time. Unfortunately, parents who rely on Medicaid may have significant challenges with public transportation or child care. Adults with disabilities may also have significant transportation barriers; they may also need support to remember appointments and/or manage the sensory experiences of dental treatments. Finally, families of children with disabilities tend to have lower income than other families. Even if they are twoparent households, oftentimes one parent can

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work, while the other parent has the full-job of managing the child’s medical, educational, insurance, coordination, and advocacy needs. Few families have extra money for out-of-pocket expenses and medical needs not covered by Medicaid.

9.3 What the Law Says: The Other ADA The American Dental Association (ADA) is a professional association of dentists. The organization provides advocacy, education, and research regarding oral health. The Americans with Disabilities Act (ADA) , which became law in 1990, established the prohibition of discrimination based on disability. Both use the acronym “ADA”. Dentists, as medical providers, may not recognize their responsibilities under the ADA and families may not understand their rights. Private hospitals or medical offices are covered by Title III of the ADA as places of public accommodation. Public hospitals and clinics and medical offices operated by state and local governments are covered by Title II of the ADA as public programs. Persons with disabilities must receive “full and equal access to their health care services and facilities; and reasonable modifications to policies, practices, and procedures when necessary” (U.S. Department of Justice, Civil Rights Division 2010) In theory, a dentist cannot refuse to treat a patient who has a disability because the examination will take more time. ADA protections also require that staff should be properly trained in wheelchair transfer or the office should provide lift/transfer equipment and/or an accessible lift or chair. The dentist must provide reasonable accommodations at their cost (not the families) for a patient who needs accessible communications support such as an American Sign Language (ASL) interpreter, large print, or recorded information. Dentists are also responsible for ensuring that persons with limited English proficiency are supported with a translator. When these accommodations are offered as a working part of the everyday dental office, often typical patients

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enjoy the universal benefits, making everyone feel more welcome. Some additional protections for patients with disabilities were included in the Patient Protection and Affordable Care Act , familiarly known as the Health Care Reform bill of 2010. The US Access Board, a federal agency charged with working on accessible design, in consultation with the Food and Drug Administration, is developing standards of medical diagnostic equipment for patients with disabilities. Dental equipment is included in the proposed standards which are to be developed by March of 2012.

9.4 Family Perspective 9.4.1 Why Dental Care is Last on the List When one considers the constant vigilance that parents of children devote to their child’s medical, educational, and social needs, is it any wonder that oral health care often is not at the top of their “to do” list? Many families of children with disabilities become too emotionally and/or financially stressed to devote time and attention to oral health. These personal stories describe “a day in the life” of families of children with significant challenges and express why dental care, while important, is often “the last thing on the list.”

9.4.2 Mother’s Perspectives Arlene Title is the mother of Seth who has cerebral palsy, microcephaly, and severe intellectual disability. She states (Title, personal communication): Morning care is in a hospital bed—he sits upright while we’re preparing breakfast. We feed him oatmeal and coffee, he likes his morning coffee. He takes two pills and seizure medications in the morning. We get his diaper changed—sometimes he’s cooperating, sometimes not. Next is brushing teeth: we preferred the battery operated toothbrush until he bit the head off the toothbrush and was choking on it. He usually doesn’t want his teeth brushed, he’s clenching his mouth shut, you have to watch his hands so he doesn’t hit it out and his head is always moving—it’s physical (as his

N. J. Murray and M. A. Hartley dentist used to say when he was little) if he knew Seth was coming in, he wouldn’t have to go to the gym because he got his work out cleaning his teeth—we all do. One person can put him into a wheelchair, usually. Getting him into bed it does take two—always better. He takes two medications in the afternoon, one pill and seizure medication. His aide may come and take him out during the day, amusement park or the pool (when he is at the pool there have to be four adults there). Everything with Seth is physical because he’s not able to help himself in any way—he’s complete care. For lunch, he eats soft textured foods—when he’s out it’s a protein liquid supplement. A lot of times you can’t change diapers until you get him back to the car, because he doesn’t stand and you can’t lay him on the floor. Taking him shopping can be an adventure he can destroy a store in a blink, he can clear an entire rack of clothes, take out a shelf of deodorant, candy aisles, you just don’t know. Now that he’s blind he’s not reaching and grabbing as when he had his vision. After work, we come home at night—there is usually an aide until early evening and then it’s usually just us getting him prepared for bed, snack with meds, brush teeth, changing the diaper, change clothes. Into bed. He sleeps elevated, can’t be laid flat. He can sleep well. You know something’s not right when he’s up. The meds help—because when he was younger he used to not. The first three years of his life, he didn’t sleep—he’d cry 15–18 h out of the day. I never slept. If you slept a night it was five hours and they weren’t consecutive and we had two other kids. His teeth—he still has baby teeth and a lot of overlap, they had to pull layers of teeth. He doesn’t chew and swallow very well and now he aspirates.

Joy McDaniel (2010), mother of JJ, who has severe, non-verbal, highly aggressive autism and Angel, who is higher functioning but who also has a diagnosis of autism, states (McDaniel, personal communication): Depends on what time JJ wakes up, sometimes 3 a.m., sometimes 6, it also depends on mood when he wakes up—if he wakes up tantrumming, I run around and close the windows so he doesn’t disturb the neighbors. Since he is non-verbal, he makes a lot of noises, happy, sad, angry, and always very loud. Both children are independent with toileting, [but] JJ was not independent with this skill until age 11. Immediately, he asks for his array of things—his food he’s always eating (not food at 3 a.m.). Angel wakes herself up with her alarm clock, she comes downstairs, but not a ‘morning’ person. If JJ’s still asleep, she’ll come and cuddle with me and we’ll have ‘our’ time. Then she gets her coffee, her breakfast bar and her daily vitamin. She dresses herself to get ready for school. She brushes her teeth. JJ he’ll eat hotdogs or chicken with applesauce for breakfast and then every-

9 Oral Health Access Issues for Children with Special Health Care Needs thing depends on his mood—sometimes he’ll sit and [watch] PBS children’s programs quietly or if it’s 3 a.m., he’s asking to go somewhere—school, Grandma’s, somewhere in the car (he has no concept of time). Brushing teeth for JJ—he will allow the toothbrush to go into his mouth, but only to his molars, he bites down—there’s no actual brushing. So what I’ve done to supplement brushing. I will give him a wet washcloth to chew on, but while he’s doing that, I’ll use parts of the washcloth to brush his teeth and he bites me a lot. When Angel’s bus picks her up at 6:30 a.m., JJ perseverates over getting ready for school, because he doesn’t know that he’s not getting picked up for another hour and a half, so that can consist of him sitting quietly or repetitively signing, ‘school, please.’ One hour before, I have a visual timer I set for him and 95% of the time, he’ll still sign for school for that hour. At 8 a.m., JJ gets on a school bus and goes to school. In order to get him ready—things have to be done in an order. His book bag can’t come out and his harness, that he needs for safety on the bus, until the school bus honks its horn, because if the bus were to be late, it would be a highly aggressive tantrum. When the bus aide isn’t there, I have to send the bus away, which has resulted in 6 h non-stop tantrums. That’s the morning. We have to hold him down—at the hospital recently, to get his school shots, a male adult and I, using a sneak attack. On a recent trip to the ER at Children’s Hospital, the doctors and nurses were so scared; the attending doctors didn’t know what they could do because of his autism—not his injury, that they had to call in the Chief of the ER.

Given the challenges of caring for their children day after day, week after week, year after year, it is little wonder that even highly engaged and motivated parents such as Arlene and Joy find it difficult to arrange and facilitate appropriate dental care for their children.

9.4.3 Medical Anomalies, Medications, and Sensory Challenges In many respects, children with special health care needs are just like their typical peers. However, there are specific dental and gum conditions for some CSHCN which are not common. In addition to intellectual, behavioral, and/ or mobility disabilities, some children may have neuromuscular reactions that can cause resistance to opening the mouth or keeping the mouth open most of the time. CSHCN may have excessive drooling or “dry mouth.” There may be uncon-

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trolled body movement; problems with gastric reflux and gagging problems or seizures. Problems managing sensory experiences may also play a role, particularly for children on the autism spectrum. Diet is definitely a factor in oral health when children are not fed by mouth, but by Gtube or G-J tube. Some CSHCN may excessively gnash or grind their teeth. They may have a condition known as pica (in which the child eats nonfood items such as wall paste, glue, or dirt). Children with disabilities may also “pocket” their food in their cheeks. Providing daily oral health care to children with these conditions can be especially challenging. When visiting the dentist, it is extremely helpful for the staff to share some tips when working with children with different needs. There are supportive devices such as mouth props, unique toothbrushes, flossing aids, and even home modifications using bicycle handles and tennis balls that can serve as alternative methods to classic tooth brushing. The parents are strongly encouraged to discuss the child’s diet with the dentist, as well as any other unusual concerns on the health of the mouth and teeth. The NIDCR (through the National Institutes of Health, NIH) provides free information to all families, caregivers, and professionals through their website, as well as printed materials that may support these specific needs and answer questions. Parents may find it helpful to identify some of these materials and work with a dentist to identify the supports that work best for their child. Most children with disabilities will likely be able to operate their own toothbrush. Children will develop more ability with repetition. For children with more significant disabilities, it is recommended that they try, or at least participate, in their own care in some way. Once the child has started, then it is important for caregivers to finish oral care to ensure thoroughness. For those with the most complex care needs, dentists recommend doing at least a quadrant to one half of the mouth at a time, alternating sections daily. Daily oral care is the most important aspect of care overall. Even if a child visits a dentist for cleanings twice a year, home care represents 363 days of the year. Especially if children have a compromised health status, making sure that

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the teeth and gums have had two adequate cleanings a day is essential to their overall health. For children, getting accustomed to the sensation of the toothbrush and floss, or feeling the buzz of an electric toothbrush, may also prepare them for visits to the dentist.

9.4.4 A Word About Desensitization Most pediatric dentists’ offices are well aware of the desensitization needs of children and particularly children with disabilities. It is good to remember we all feel some trepidation, in even the most comforting dentist’s hands. For children and adults with disabilities, fear may be paramount. In order to assure successful treatment, there may need to be several trips to the dentist office in advance so that children may sit and watch a parent or peer experience a dental visit, or perhaps try out sitting in the dental chair. Some children may only be able to sit in the chair and then next visit graduate to having sunglasses on with the bright light. Best practice for pediatric dental offices is to use “tell, show, do” and never surprise their patients. Skilled practitioners are also positive in their approach and create opportunities for the child or adult to stop when possible. With some control over stopping and starting, the child can be partly in charge of the visit and the dentist can reward the child for his or her ability to successfully complete some part of the exam. While this process can seem repetitive and frustrating for some dentists and caregivers, the trust built is paramount to the future success of this child’s lifetime experience with the dentist. Ultimately, a child’s success in tolerating routine dental care will lower the likelihood of more extensive care and limit the risks presented by sedation and “medical immobilization” or restraint.

9.4.5 A Word About Restraint To provide appropriate care, dentists must work near a patient’s airway and use sharp implements. Because there are physical risks to this and they


are concerned about safety or because the person may not be able to be sedated due to the use of current medications or fragile health status, a dentist may propose restraining a patient. Other terms for restraint include “medical immobilization” and/or “protective stabilization.” Parents should be aware that medical immobilization protective stabilization may be recommended by their dentist and that they should advocate for their children and work with the dentist to find the best solution for their child. Dentists, particularly pediatric dentists, are often trained in this methodology for patients who need to be safely treated in the dental chair. Parents should be aware that there are alternatives to restraint and that the “least restrictive environment” must be supported at all times. Both the dentist and family share the goal of avoiding trauma for the child so that he or she will be able to successfully visit a dentist again. The New York State Office for People with Developmental Disabilities Task Force on Special Dentistry has produced a series of excellent training modules on special care dentistry, including one on legal and ethical issues. It stresses the critical need for informed consent and particularly “specific consent,” especially for restraint and exceptions in the case of emergency treatment (Romer and NYSOPWDD 2009). This online training resource also stresses that while there is much literature on this topic in the behavioral health field, law enforcement, and in long-term care facilities, there is not comparable information regarding persons with developmental disabilities. Informed consent and a proper protocol are paramount to ensuring that the rights and dignity of the individual are not compromised and the person does not resist future treatment. Several methods of behavior support are discussed in the American Academy of Pediatric Dentistry’s 2008 revision of their “Guidelines on Behavior Guidance for the Pediatric Dental Patient”, which establishes thorough assessment of the dental patient and explicitly warns of consequences, stressing that the dentist involve parents in the discussion, obtain informed consent, and evaluate each case, so the dentist uses the least


restrictive version of this methodology (AAPD 2008). Families of children with extreme aversion to dental care, or those who have never been to the dentist, can work toward successful visits using supports advocated by “Practice Without Pressure™,” a Delaware organization. Practice Without Pressure works with patients to experience the dental visit before it happens (practicing, not de-sensitization). This can help the patient participate in the visit for a more successful experience. Children with significant involuntary movement or those who may not be able to receive anesthesia due to medicine usage should work with a highly qualified dentist to ensure that if some “immobilization” is to be used, it is done in the most positive way. Ideally, this includes opportunities for communication from the patient at any time. In effect, the goal for the patient is to agree to the care. Additionally, family members should be aware that they can and should be able to stay with their child during the dental visit. Most dentists should permit this. If this is not allowed, the parents should consider seeking another dentist.

9.4.6 Transition to Adulthood The transition from pediatric medical care and pediatric dentistry to adult health care and adult dentistry is a significant issue for all adolescents, but especially for adolescents with chronic medical conditions and disabilities. For parents and young people with disabilities, the transition to adult health care from pediatric health care can be especially difficult when a child with complex, chronic needs has been cared for by the same pediatric team for many years, especially when the team may have been credited with saving the child’s life and supporting the family through very difficult moments. The transition from pediatric to adult medical and dental services occurs at the same time that young adults and their families are planning and preparing for the young person to graduate from high school, begin vocational supports or

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competitive employment, access government benefits the young person is entitled to, and plan for living outside of the family home. Given all these changes, the transition to adult services can be a difficult time for both the young person and the family. For parents, it is when they tend to confront the need for long-term planning and the likelihood that they will not retire from caring for the child. The following questions often arise: (1) How long will we be on the waiting list for services? (2) Who will care for my adult child as I age and can no longer care for her? (3) How can I retire if I still need to provide daily care? (4) How do I find physicians and dentists who will accept my adult child’s Medical Assistance? For oral health care specifically, the transition to adult care is not always clear. Some pediatric dentists may be willing to see patients into adulthood; others will not. As the person matures to adulthood, however, a child-like office setting will become increasingly inappropriate. Either the young adult or his or her family member may wish to find a general dentist for their needs. Unfortunately, dental professionals (both pediatric and general dentists) may lack the training and experience to provide a “dental home” for children or adults with disabilities/special health care needs. A dental home is a place of accessible and consistent dental care, and represents a best practice for ensuring quality care. Many dentists are not prepared to treat patients with complex medical needs and/or disabilities that began in childhood. Due to recent changes with the Affordable Care Act, a family can now provide health insurance for their child until age 26, which may help some young adults to receive dental care. However, most young adults with disabilities will ultimately rely solely on Medicaid, which in most states provides minimal, if nonexistent adult dental benefits. The “high risk pools” now being created as a result of recent reforms are not expected to include a dental benefit. Basic Medicare currently does not provide for dental services and preventive care. Clearly, oral health care represents a major gap in our nation’s overall health care system and the young adults with disabilities are among the populations most severely affected by it.

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9.4.7 Recommendations for Families Avoidance of the dentist is not the solution for any child, and certainly not for CSHCN. The cost, complications and discomfort arising from delayed treatment are great. Recommendations by the American Academy of Pediatric Dentistry recommend a visit to the dentist by age one or the eruption of the first tooth. Issues can begin early, but probably more importantly for CSHCN, developing a relationship with a dentist’s office that promotes a positive experience can ensure a good daily maintenance plan and a secure, consistent dental home for the child.

9.5 Dentists’ Perspectives 9.5.1 The Business Model of Dentistry To understand why dental practices make the decisions they do, it is important to understand the differences between dental and medical practices and training. The majority of dentists operate using a business model that makes working with Medicaid highly disadvantageous. Most dentists are independent owners of their offices, whereas medical doctors tend to work in larger practices or at hospital centers with multiple colleagues. It is expensive to run a dental practice, and time is money. In order to make it profitable, dentists manage multiple “operatories.” They also handle all of the management of the practice: hiring and supervising staff, purchasing and maintaining equipment, billing, and facilities maintenance. The dentist runs not only case management of patients but often the business management as well. In order to optimize revenues, most patients will spend little time with the dentist by design. This business model is paying well. According to the ADA’s website, “The average net income for an independent private practitioner who owned all or part of his or her practice in 2008 was US$ 207,210 for a general practitioner and US$ 342,270 for a specialist” (American Dental Association 2009). Because dentists are typically using multiple staff to treat their patients, coordination is es-


pecially difficult to manage for patients whose needs are greater, as the dental team size may need to fluctuate. As a result, some dentists will schedule ‘specific’ days in their offices, so they can provide patients with specially trained staff and/or more staff to treat those with greater needs. “No-shows” or persons who are perpetually late will also create difficulties for the business as the coordination of staff time is so critical. People who use medical assistance transportation, public transportation, or rely on others for rides to the dentist often create frustration for the dental office management. Likewise, persons who are extremely fearful or have cognitive delays which make it difficult for them to remember appointments are challenging for dental practices to serve. Both transportation and cognitive delays are therefore highly likely to exacerbate problems accessing care for people with disabilities. To address this, dental professionals need greater awareness about the realities of relying on public transportation; the patients need to understand why keeping their scheduled appointments is critical.

9.5.2 Reimbursement Rates Another obstacle affecting people with disabilities is Medicaid reimbursement rates are considered well below market by dental professionals. In effect, from the dentist’s point of view, treating a Medicaid patient actually costs the practice money. Pew (2010) found that for 5 common procedures, 26 states pay less than the national average (60.5%) of Medicaid rates as a percentage of dentists’ median retail fees. In other words, their Medicaid programs reimburse less than 60.5 cents of every US$ 1 billed by a dentist. Even private dental insurance may be only a partial solution. There may not be enough coverage to spend the extra time a child with special health care needs may require. Other required costs such as providing an ASL interpreter or Brailed materials, also add to the costs to be covered out of the dentist’s pocket. Fortunately, some dentists are extremely generous, identifying a group home and serving all of its residents on a biannual basis. Many dentists


and dental students also participate in a number of charitable events offering free care such as Donated Dental Services and Special Smiles dental screenings through Special Olympics. Dentists can become more familiar with persons with disabilities and may be more willing to accept them in their practices once they have had encounters with a variety of individuals. Also, dentists may be able to refer individuals to targeted care at these events, which is helpful. The ultimate goal would be for every person with a disability to identify a dental home where he or she can receive semiannual or quarterly care. Mark S. Goldstein (2010), a Pennsylvania dentist, recently reflected on his 30 years of experience treating patients with special needs (Goddard, personal communication): Treating patients with special needs can vary from being as easy as allowing a little extra time for a procedure to scheduling a whole morning in an operating room to properly managing a case and everything in between. Depending on where in the spectrum you feel capable and choose to treat, there are many practical considerations for the dentist. As a given, the dentist and his staff need the basic dental/medical knowledge of their particular patient to manage the dental procedure. The vast majority of SN patients require little changes in our normal routine to help guide them thru the dental experience. One critical area is obtaining a level of cooperation so that the procedures can be accomplished safely and competently. I have often discussed that what we do is analogous to asking someone to utilize a drill that turns at approximately 300,000 rpm, carve their initials onto a match head that might occasionally move without any notice. Support to complete the dentistry may be obtained by many methods: ‘tell, show, do,’ nitrous oxide analgesia, conscious sedation, deep sedation, general anesthesia, and medical immobilization. Many of these techniques require additional training and licensure. Another consideration is the dentist having a list of specialists that she or he can refer to who will accept SN patients. There are of course financial considerations: additional time and staff result in higher overhead. Our field is typically reimbursed per procedure, not per time unit.

9.5.3 Training and Education Traditionally, pediatric dentists have received training in working with patients with special

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needs and behavior guidance/management. After they complete dental school, pediatric residents receive further specialized training to learn about children’s development and psychology. They also are trained and often have some clinical experience working with children and adults with special healthcare needs and disabilities. Unfortunately, there are not enough pediatric dentists to meet the demand. Dennis Ranalli, DDS, MDS, Senior Associate Dean and Professor of Pediatric Dentistry at the University of Pittsburgh School of Dental Medicine, notes (Ranalli, personal communication): The specialty of pediatric dentistry traditionally has encompassed providing oral health care for children with special health care needs. However, it should be noted that the total number of pediatric dentists is quite low when compared to the dental needs of children with disabilities. Pediatric dentists alone cannot address the access to care demands of all children, including those with special needs. It has been estimated that the majority of dentistry performed on children is provided by general practitioners. Enhanced education and training of specialists as well as general dentists is paramount to addressing present and future access to dental care for children with special health care needs.

The recent good news is that there have been some positive changes in training general dentists. The Commission on Dental Accreditation (CODA) of the ADA now requires that, “Graduates must be competent in assessing the treatment needs of patients with special needs” (CODA 2007). While this is a step in the right direction, assessing treatment needs and clinical experience are two different things. A student may be competent in assessing the treatment needs simply from case studies. However, it is possible for a dental student to go through his or her entire training without having had experience assessing and treating a real person who has a disability. Dental schools are using this guideline for didactic and clinical training, but depending on the school, the students may have extremely limited clinical experience. In addition, the CODA definition of “special needs” here can be very broadly interpreted. Since most dental students do not regularly encounter people with (in particular) devel-

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opmental disabilities such as mental retardation, autism, Down syndrome and cerebral palsy, even newly-trained dentists may be very uncomfortable with providing dental care to them. Medical doctors typically train in large hospital settings where they treat a myriad of patients. In contrast, dental students receive a majority of their training in the clinic of their dental school which may or may not regularly treat people with disabilities. Generally, pediatric dentists do receive training in working with people with disabilities. In a 2004 survey of several hundred third and fourth year health professions students, 68% of dental students reported they had less than 5 hours of instruction for care involving CSHCN, and roughly fifty percent of students had no clinical training involving CSHCN. Little wonder, then, that 60% of the students reported they had little or no confidence in their ability to provide appropriate care to people with developmental disabilities (Wolff et al., 2004, p. 353). With the new CODA guidelines, it is hoped that dental schools will embrace the more robust ideals and more students will have the opportunity to see and treat people with disabilities they could encounter in their private practice. For appropriate care to be rendered to children with special healthcare needs and their adult counterparts, all dentists should be well trained in techniques that can help their practices run more smoothly and their patients receive the highest quality of care. Not only should dental students be receiving this training, the practicing licensed dentists need it too. If the goal is to build a system prepared to treat patients with disabilities, the goal should be not just “de-sensitizing” patients to the dental care experience, but also “de-sensitizing” dentists who have not many encounters with individuals with differences. Dental students should also gain experience on how to work with patients with disabilities as part of preparing them for a practice that includes everyone. This includes using person-first language, and teaching dentists to speak to the patient directly. The dentist should always assume competence from the person and ask the patient if it is acceptable to share their


personal medical information with someone else unless that has been predetermined by documentation in advance of the visit. If a caregiver is to be included, the dentists should make sure the patient is informed first—even when they don’t think the person can understand. The dental experience works best when CSHCN, their families, and dentists work together. An excellent resource is the New York State Developmental Disabilities Planning Council checklists shown in Table 9.2.

9.5.4 Resources for Dentists Dental professionals can rely on several professional academies and online resources for continuing education resources and information on the care and treatment of CSHCN: • The American Academy of Pediatric Dentistry (AAPD). http://www.aapd.org/ • The American Academy of Developmental Medicine and Dentistry (AADMD). http:// www.aadmd.org/ • American Dental Association (ADA). http:// www.ada.org/ • Special Care Dentistry Association (SCDA). http://www.scdonline.org/ (Includes: Academy of Dentistry for Persons with Disabilities (ADPD)) • NIDCR (NIH) (On-Line Curriculum) Practical Oral Care for People with Developmental Disabilities Series. http://www.nidcr.nih.gov/ OralHealth/Topics/DevelopmentalDisabilities/ContinuingEducation.htm • National Maternal and Child Oral Health Resource Center (On-Line Curriculum) Special Care: An Oral Health Professional’s Guide to Serving Young Children with Special Health Care Needs. http://141.161.111.132/ OHRC_main/SpecialCare/index.htm • NYOPDD (2009) now New York State Office for People with Developmental Disabilities “Special Care Dentistry for the General Practice Resident: Practical Training Modules”. http://www.omr.state.ny.us/hp_dentistry_ training.jsp


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Table 9.2 New York State Developmental Disabilities Planning Council checklists. (Used with permission from Chapin and Worobey 2008) What we need from doctors, dentists, and other office staff:

What we can do for ourselves:

Doctors, dentists, and staff have an understanding of disabilities and the anxiety that individuals may have about medical/dental visits Treat individuals and caregivers with the same respect and dignity as others receive and recognize unique family strengths Have short wait times and a low stress, quiet environment, with special or separate waiting rooms Speak directly to the individual Allow extra time for the appointment Listen to caregivers’ and individuals’ expressed needs Share complete and unbiased information with families Allow caregivers to be present during visit and ask them questions when needed See the individual as a person with unique needs, not as a “disabled person” Make appropriate referrals and timely follow through with paperwork Prepare the individual for doctor/dental visit through role-play, books, and pictures, etc. Bring distractions for waiting and exam rooms (books, music, video games, snacks, etc.) and offer rewards (prizes, outings, edibles, etc.) Ask for a “get acquainted” visit Schedule appointment at a time that is best for the individual, such as the first or last appointment of the day Keep a medical/dental journal of copayments, medications, treatments, prior visits, and referrals Make sure the parking lot, building, and office are accessible Talk to the doctor/dentist before the visit, preparing staff ahead of time, and reminding them of the individual’s needs; mail or fax a summary letter if needed Bring a support person to listen to doctor, write things down, and help with other children Research medical/dental issues in books, journals, and online, and ask lots of questions Ask for the same doctor/staff each time

9.6 Some Solutions Many advocates are working diligently to solve the access issue for those children with special health care needs who are most at risk. The state advocates are strategizing, employing the support of individuals, families, dental professionals, insurance companies, and state agencies. Anecdotally, self- and family-advocates say finding the right dentist is the hardest part of the process. Their frustration is often that when they are provided a list by their insurance company and call all of them to find out a) that their panel (or number of Medicaid patients they can take, for example) is full or b) that they do not have the required skills, that is behavior management or the capacity to provide specialty care such as nitrous oxide, analgesia sedation, or IV sedation. While

no dentist should deny seeing a patient because of their disability and should be adequately trained for all that may not be realistic in the near term. To avoid frustration for both parties, it would seem that the Centers for Medicaid and Medicare could require states to list the names and levels of care those dentists can adequately provide and their available panel numbers on public websites and in their publications. This would provide individuals with real-time answers, and it would also provide states direction on its service gaps. Most advocates agree to these key components when discussing how to fix the access issues for CSHCN: educate dental professionals and families on specific care needs of CSHCN; improve reimbursement rates for dentists; improve collaboration between dentists and doctors through medical homes or medical/dental homes; provide

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a social service component to support those individuals who would benefit from help with specific dental care needs—that is making and keeping appointments, home care; institute levels of care initiatives; provide resources and databases for families to find appropriate dentists and also to serve dentists who are looking to refer; refine loan repayment programs; and train and license additional providers of oral health care for specific services not requiring a dental degree.

9.6.1 Education for Consumers and Families This should be an easy fix. Unfortunately, it’s not. Finding information is difficult. If the individual or family member is resourceful with the internet, they should be able to search for support. The best educators for CSHCN and their families are in the dental office—but often times, the staff is not equipped with what they need to translate care support to the family. Some excellent resources are available, but each child has unique needs and time and care should be given to provide specific information for that person. Once a family has identified a dentist office they like, it is critical to go over some specific questions that may help the family to better support the child to brush and floss themselves or to find out the best way to safely brush their child’s teeth for them. Encouragement of self care is ideal, but not always possible. Again, some of these key resources for families could be linked to the dentist’s website as well as state health sites and advocacy groups.

9.6.2 Education and Clinical Training for All Dental Professionals A handful of dental schools have made huge strides to ensure education and clinical experience for dentists and hygienists. It may be helpful to “introduce” dental professionals to individuals with disabilities early in their training, perhaps as simple as a visit to a group home or a school with a larger group of CSHCN. Dental students (including hygienists and dental assistants) could be asked to teach about proper oral health care or


just visit students or adults to deliver toothbrushes and floss and information. Personal experience is likely the best deterrent of fear from both sides. Why are some dentists more inclined to care for this population? Some dentists with an inclusive practice will tell you, “Why wouldn’t you? Do they live in the community that you serve?” Others will say they love working with individuals with special needs and derive a great sense of success supporting those who others feel are “too difficult.” Others say they enjoy working with these individuals and their families who are especially grateful for their support.

9.6.3 Improve Reimbursement Rates for Dentists Aside from general increases in reimbursement rates, it is clearly more equitable to pay dentists for the added time it takes to work with an individual with specific challenges. Medicaid credentialing and paperwork for providers could be also simplified and standardized in each state, making the ability to participate more available and easier to access. Many states now have relatively simple online systems for billing, a step in the right direction. Pennsylvania has instituted a “behavior management fee” which pays dentists for the increased time it may take to work with children and adults with disabilities: another helpful support for dentists treating certain patients.

9.6.4 Dental Homes The American Academy of Pediatric Dentistry supports the use of “dental homes” for children of all ages and persons with special health care needs. This model of patient-centered care could potentially reduce oral health risks and emergency room visits.“The dental home is the ongoing relationship between the dentist and the patient, inclusive of all aspects of oral health care delivered in a comprehensive, continuously accessible, coordinated, and family-centered way. Establishment of a dental home begins no later than 12 months of age and includes referral to dental specialists when appropriate” (AAPD 2010).


9.6.5 Levels of Care Initiative Another approach is for families and advocates to work with State Medical Assistance Programs to develop a plan for articulating levels of care. Such a plan provides individuals and caregivers tools to appropriately assess what level of care they may need, and then identifies dental providers with the appropriate capacity. Some states have available previsit/preassessment surveys which help the caregiver to discover what level of care the person with disabilities needs. It is important that the systems be designed so that patients can move fluidly between different levels of care. Over time, for any individual, there may be changes in what treatments he or she can tolerate. The goal should be community care in the least restrictive safe environment—not an immediate leap to IV sedation or medical immobilization/restraint for anyone who has a disability.

9.6.6 Resource/Database United States Center for Medicaid Services has developed a searchable online database with the Insure Kids Now campaign. As part of that listing, dentists can select “can accommodate special needs.” Perhaps this website could detail more information for families of CSHCN. States and other agencies should be encouraged to include a resource database service on the internet and a call center by zip code. Dentists can self-describe what level of care they can provide and individuals and caregivers should have access to that information: This would supplement the typical list of dentists listed on a website by their insurance company. These websites could also serve to support dentists who are unable to treat certain patients by providing them with valuable resource information for referrals. An excellent resource example is the “Dental Care for Persons with Disabilities in New Jersey” (Matheny Institute of Research in Developmental Disabilities 2008) website, which allows New Jersey dentists/specialists to input their own availability and interest. Dentists have long said they are unwilling to put their name on a list—for fear of a deluge of clients with special needs. This model gives the dentist more control over their inclusion caseload.

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9.6.7 Loan Repayment for Dentists That Serve Individuals with Disabilities States and the federal government should increase the incentives to new or existing dentists with enhanced training to work with children and adults with disabilities wherever they live. Many state programs have changed their loan repayment structure to encourage increases in Medicaid providers. At times, a few states, such as New Mexico and Massachusetts, have specifically tailored their incentives to dentists who treat patients with special needs. Whatever a state decides, dentists could be encouraged to work with all Medicaid patients with additional structures such as part-time practice options or a percentage of their practice dedicated to public health insurance. This was done in Maryland which provides US$ 99,000 in loan repayment over a three-year period for dentists who practice in a location of their choice but who have a minimum of 30% of Medicaid-eligible patients per year.

9.6.8 Increase Access to Oral Healthcare by Increasing Opportunities for New Providers With the number of dentists projected to fall short of what we need to treat the general population, states are exploring the following strategies: • Train, license, and deploy EFDH (like nurse practitioners), who can provide services in a community (state licensed) facility with or without direct supervision of a dentist. These hygienists often work directly with a dentist but can go out in the field and perform a number of functions. For the disability community, and especially in rural areas or where people cannot travel, access to EFDHs would be a tremendous improvement in access to care. While it is critical to see a licensed dentist, this service would certainly help those, especially, who cannot care for their own teeth on a daily basis or with specific anomalies. • Train, license, and deploy dental therapists Alaska is currently using Dental Therapists to reach patients in very rural areas. Developed in New Zealand in the 1920s, this model has

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been used in more than 50 countries. These professionals are increasingly being considered for isolated areas and grossly underserved populations. • Train, license, and deploy Expanded Function Dental Assistants It follows as the Dental Assistant can handle more functions and procedures, the hygienist can do more and the dentist can potentially see more patients. • Train, license, and deploy Advanced Dental Hygiene Practitioners This new practitioner model is currently being piloted by the ADA. While the model would support children and adults with disabilities, at this time there is no specific training in their curriculum to work with patients with special healthcare needs. The current training will teach the practitioner to assess risk, educate, provide preventive services and provide referrals. Once established, the advocates in individual states will have to create awareness about this idea and develop a similar model inclusive of people with disabilities.

9.6.9 The Patient Protection and Affordable Care Act Also known as the health care reform of 2010, this bill was signed into law on 23 March 2010. If continued, several sections of this act (aside from insurance reforms) can directly impact people with disabilities: First, it plans to establish standards for accessible medical/dental equipment; data and quality measures will be collected on/ by individuals with disabilities; research and demonstration projects in training the workforce for working with this population; grants to educate students and professionals who work with this population; a five-year national, public oral health campaign—one target population of which is individuals with disabilities; school based sealant programs; expansion of Medicaid to 133% of the Federal Poverty Level—and, if appropriated, additional funds to states to support these efforts. All of these provisions bode well for CSHCN. (One exception might be the Medicaid expansion, which in the short term, could in fact stress the system as there are currently not enough Med-


icaid dentists/specialists to serve all Medicaid beneficiaries.) None of these measures, however, represent a direct fix for all the challenges presented by dentists’ training and business model.

9.6.10 Medically Underserved Population (MUP) Another strategy is to formally designate people with disabilities as “medically underserved.” For years, groups such as the AADMD have been advocating for “medically underserved” status. Recently, a large group of high profile advocacy groups wrote the US Health and Human Services Secretary Sebelius, asking for designation as a MUP, which could provide additional federal dollars to help serve all areas of health including dental care. (Joint Letter on Cross-Disability Representation in Designating MUPs 2010) With the recession and potential loss of federal Medicaid dollars, states are looking to drop adult coverage from Medicaid and those who can’t properly take care of themselves or cannot access the funds necessary to obtain quality care are at even greater risk. Future funding resources from the federal government would be well spent ensuring that individuals with disabilities are treated to appropriate diagnostic and restorative dental care, avoiding greater health risks, emergency room visits, and death.

9.6.11 Additional Resources for Individuals, Caregivers, and Professionals • The American Academy of Pediatric Dentistry Website, Frequently asked questions. http:// www.aapd.org/publications/brochures/specialcare.asp. Accessed 1 Nov 2010 • NICDR Dental Care Everyday: A Caregivers Guide, NIH, NICDR available on line and free publications, http://www.nidcr.nih.gov/OralHealth/Topics/DevelopmentalDisabilities/ DentalCareEveryDay.htm. Accessed 8 Aug 2010 • Perlman, S et al. (2008). Special Olympics, Special Smiles: A Caregivers Guide to Good


Oral Health for Persons with Special Needs. http://media.specialolympics.org/soi/files/ healthy-athletes/Special%20_Smiles_Good_ Oral_Health_Guide.pdf. Cited 10 Oct 2010 • NIDCR Research (NIH). (On-Line Curriculum) Practical Oral Care for People with Developmental Disabilities Series http://www.nidcr. nih.gov/OralHealth/Topics/DevelopmentalDisabilities/ContinuingEducation.htm • National Maternal and Child Oral Health Resource Center (On-Line Curriculum) Special Care: An Oral Health Professional’s Guide to Serving Young Children with Special Health Care Needs. http://141.161.111.132/ OHRC_main/SpecialCare/index.htm • NYOPDD (2009) now New York State Office for People with Developmental Disabilities “Special Care Dentistry for the General Practice Resident: Practical Training Modules”, http://www.omr.state.ny.us/hp_dentistry_ training.jsp. Cited 29 Oct 2010

References Agency for Healthcare Research and Quality. (2009). National healthcare disparities report (AHRQ Publication No. 10–0004, pp. 277–292). Rockville: U.S. Department of Health and Human Services. American Academy of Pediatric Dentistry. (2010). Policy on the medical home. AAPD Reference Manual, 32(6,10/11), 25–26. American Academy of Pediatrics. (2008). Guidelines on behavior guidance for the pediatric dental patient. AAPD Reference Manual, 32(6, 10/11), 147–155. American Dental Association. (2007). Survey of dental fees. http://www.pewcenteronthestates.org/uploadedFiles/Cost_of_Delay_web.pdf. Accessed 1 June 2010. American Dental Association. (2008) State innovations to improve access to oral health: A compendium update. http://www.ada.org/prof/advocacy/medicaid/medicaid-surveys.asp. Accessed 29 May 2009. American Dental Association. (2009). 2009 Survey of Dental Practice. Washington, DC: American Dental Association. (Reprinted with permission. All rights reserved. Any form of reproduction is strictly prohibited without prior written permission of American Dental Association). American Dental Education Association. (2004). Dental education at a glance. www.adea.org. Casamassimo, P., Seale, S., & Ruehs, K. (2004). General dentists’ perceptions of educational and treatment issues affecting access to care for children with special health care needs. Journal of Dental Education, 68(1), 23–28. (Reprinted by permission of Journal of Dental

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Education, (Vol. 68), No. 1, January 2004. Copyright 2004 by the American Dental Education Association. www.adea.org). Centers for Disease Control and Prevention (CDC). 2011. CDC health disparities and inequalities report. 2011. Morbidity and Mortality Weekly Report, 60 (Suppl), 1–114. Chapin, D., Worobey, R., New York State Developmental Disabilities Planning Council. (2008). Strategies for successful medical and dental office visits. Albany: New York State Developmental Disabilities Planning Council (used with permission). Commission on Dental Accreditation. (2007). American dental association accreditation standards for dental education programs. Washington, DC: American Dental Association. http://www.ada.org/sections/educationAndCareers/pdfs/current_predoc.pdf. Elwyn, Inc. (2006). People with developmental disabilities and oral health in the commonwealth of Pennsylvania: A report to the Pennsylvania developmental disabilities council (pp. 71, 78). Pittsburgh: ACHIEVA (www.achieva.info). GAO. (2009a). Statement of Katherine M. Iritani; Testimony before the Subcommittee on Domestic Policy, Committee on Oversight and Government Reform, House of Representatives: MEDICAID—State and federal actions have been taken to improve children’s access to dental services, but more can be done (GAO10–112 T, pp. 1–12). http://www.gao.gov/new.items/ d10112tpdf. Accessed 5 May 2010. GAO. (2009b). Report to Congressional requesters: MEDICAID—State and federal actions have been taken to improve children’s access to dental services, but gaps remain (GAO-09–723, pp. 1–48). http://www.gao. gov/new.items/d09723.pdf. Accessed 27 July 2011. Goldstein DDS, M. S. (2010). Dentist’s perspectives on working with individuals with special needs. Personal correspondence. Haden, N. K., Weaver, R. G., Valachovic, R. W. (2002). Meeting the demand for future dental school faculty: Trends, challenges, and responses. Journal of Dental Education, 66(9), 1102–1113. Health Resources and Services Administration Health Professions. (2009). Health professional shortage areas as of September 30, 2009. http://bhpr.hrsa.gov/ shortagedesignation/index.html. Accessed 30 Sept 2009. Isman, B., Newton, R., Bujold, C., Baer, M. T. (2000). Planning guide for dental professionals serving children with special health care needs. University of Southern California University Affiliated Program, Children’s Hospital Los Angeles, CA. http://www. mchoralhealth.org/pdfs/ohguide.pdf. Accessed 1 Nov 2010. Joint Letter on Cross-Disability Representation in Designating Medically Underserved Populations. (2010). http://www.autisticadvocacy.org/modules/smartsection/item.php?itemid = 116. King, K. (2009). Northern Michigan woman’s death raises calls to restore adult Medicaid dental benefits. The Grand Rapids Press. http://www.mlive.com/news/

188 grand-rapids/index.ssf/2009/10/northern_michigan_ womans_death.html. Accessed 2 July 2010. Lewis, C. W. (2009). Dental care and children with special health care needs: A population-based perspective. Academic Pediatrics, 9(6), 420–426. Lewis, C., Robertson, A., Phelps, S. (2005). Unmet dental care needs among children with special health care needs: Implications for the medical home. Pediatrics, 116, e426--e431. McDaniel, J. (2010). Mother’s perspective, personal communication/interview. Accessed 10 Aug 2010. McKinnon, M., Luke, G., Bresch, J., Moss, M., & Valachovic, R. (2007). Emerging allied dental workforce models: Considerations for academic dental institutions. Journal of Dental Education, 71(11), 1476–1491. McPherson, M., Arango, P., Fox, H., Lauver, C., McManus, M., Newacheck, P. W., Perrin, J. M., Shonkoff, J. P., & Strickland, B. (1998). A new definition of children with special health care needs. Pediatrics, 102, 137–140. National Association of Dental Plans. (2010). Memorandum: Answers to Institute of Medicine questions— IOM & essential benefits. http://www.nadp.org/ Libraries/HCR_Documents/NADP_Memo-NADP_ Answers_IOM_re_EHBP12_6.sflb.ashx. Accessed 15 Dec 2010. National Center for Health Statistics. (2007), Health United States, 2008, Disability Data page iii. http:// www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book = healt hus07&part = A1. Accessed 5 Aug 2010. National Council on Disability. (2009). The current state of health care for people with disabilities (p. 87). In W. M. Nehring (Ed.), Health promotion for persons with intellectual and developmental disabilities: The state of scientific evidence (pp. 159, 167). Washington, DC: American Association on Mental Retardation. Nehring, W. M. (Ed.). (2005). Health promotion for persons with intellectual and developmental disabilities: The state of scientific evidence. Washington: American Association on Mental Retardation, p. 101. NYOPDD. (2009). New York state office for people with developmental disabilities. www.opwdd.ny.gov. Otto, M. (2007). For want of a dentist: Pr. George’s Boy dies after bacteria from tooth spread to brain. Washington Post. http://www.washingtonpost.com/wp-dyn/ content/article/2007/02/27/AR2007022702116.html. Accessed 3 Aug 2010. Perlman, S., Friedman, C., & Fenton, S. (2008). http:// www.nidcr.nih.gov/OralHealthtopics.DevelopmentalDisabilities/DentalCareEveryDay.htm. Special Olympics Inc., Healthy athletes, special smiles, a caregivers guide to good oral health for persons with special needs. http://media.specialolympics.org/soi/files/ healthy-athletes/Special%20_Smiles_Good_Oral_ Health_Guide.pdf. Accessed 10 Oct 2010. Pew. (2010). The cost of delay: State dental policies fail one in five children. http://www.pewcenteronthestates.org/uploadedFiles/Cost_of_Delay_web.pdf. Ranalli, D. N. (DDS, MDS, Senior Associate Dean, University of Pittsburgh School of Dental Medicine). (2010). Personal correspondence.

N. J. Murray and M. A. Hartley Romer, M., & New York State Office for People with Developmental Disabilities. (2009). Special care dentistry for the general practice resident: Practical training modules. Special care dentistry: Legal and ethical issues. http://www.omr.state.ny.us/hp_dentistry_training.jsp. Accessed 29 Oct 2010. Satcher, D. (2000). US department of health and human services, oral health in America: A report of the surgeon general. Rockville: US Department of HHS, National Institute of Dental and Craniofacial Research, National Institutes of Health. The Matheny Institute of Research in Developmental Disabilities. (2008). Dental care for persons with disabilities in New Jersey. http://www.disabilityhealth.org/ dental/. Accessed 26 Oct 2010. Title, A. (2010). Mother’s perspectives. Personal communication/interview. U.S. Department of Health and Human Services. (2010). Press Release, “HHS Awards ARRA Funds to Establish a Center of Excellence in Research on Disability Services, Care Coordination and Integration.” http:// www.hhs.gov/news/press/2010pres/05/20100506a. html. Accessed 5 Aug 2010. U.S. Department of Health and Human Services Centers for Medicare and Medicaid Services. (2010). CHIP dental coverage. https://www.cms.gov/CHIPDentalCoverage/. Accessed 29 Sep 2010. U.S. Department of Health and Human Services Centers for Medicare and Medicaid Services Website. (2010). Medicaid dental services. http://www.cms.gov/MedicaidDentalCoverage/. Accessed 28 Oct 2010. U.S. Department of Justice Civil Rights Division. (2010). Access to medical care for individuals with mobility disabilities. http://www.ada.gov/medcare_mobility_ ta/medcare_ta.htm. Accessed 9 Sep 2010. U.S. Government Accountability Office. (2009a). Figure 1: Barriers to children seeking Medicaid dental services and barriers to dental providers serving Medicaid beneficiaries, as Reported by State Medicaid Programs (pp. 1–4). http://www.gao.gov/new.items/ d10112t.pdf. Accessed 5 May 2010. U.S. Government Accountability Office. (2009b). Extent of dental disease in children has not decreased and millions are estimated to have untreated tooth decay, report to congressional requesters. http://www.gao. gov/new.items/d081121.pdf. Accessed 5 May 2010. United States Congress. (2009). One Hundred and Eleventh Congress H.R. 2: CHIP Reauthorization. To amend Title XXI of the Social Security Act to extend and improve the Children’s Health Insurance Program, and for other purposes. Washington, DC: United States Government Printing Office. http://frwebgate. access.gpo.gov/cgi-bin/getdoc.cgi?dbname = 111_ cong_bills&docid = f:h2enr.txt.pdf. Accessed 21 July 2010. Wolff, A., Waldman, B., Milano, M., Perlman, S. (2004). Dental students’ experiences with and attitudes toward people with mental retardation. Journal of American Dental Association, 135, 353–357.

Tuberculosis: The Special Needs of Children

10

Elisabetta Walters, Elizabeth Lutge, and Robert P. Gie

Abstract

Mycobacterium tuberculosis infects one-third of the world’s population and is a leading cause of morbidity and mortality, particularly in poorer countries and underresourced communities where tuberculosis (TB) is endemic. Although childhood TB is largely preventable, children living in these areas are extremely vulnerable to the development of disease as a result of the interplay of environmental, social, and medical/health systems factors. TB disease is the end result of a progression from exposure to an infectious case, to infection and subsequent development of symptoms. Young and immune-suppressed children progress more rapidly and develop more severe forms of disease. The health care needs of children in TB-endemic areas are being neglected both by the global community and by the local governments. In order to prevent TB, children require adequate nutrition, hygienic living spaces, access to education, and health care. These basic needs are largely unmet in countries where governments are unstable, and where resources are limited or inequitably distributed. In addition, children require strong health systems, where infectious adults are identified and promptly treated, and where child contacts of such adults are administered timely prophylactic therapy. Vertical transmission of HIV needs to be eliminated and

E. Walters () · R. P. Gie Desmond Tutu Tuberculosis Centre, Department of Pediatrics and Child Health, Faculty of Health Sciences, University of Stellenbosch, PO Box 19063, Tygerberg 7505, South Africa e-mail: [email protected] E. Lutge Health Systems Trust, PO Box 808, Durban 4000, South Africa e-mail: [email protected] R. P. Gie e-mail: [email protected] D. Hollar (ed.), Handbook of Children with Special Health Care Needs, DOI 10.1007/978-1-4614-2335-5_10, © Springer Science+Business Media New York 2012

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HIV infection appropriately treated. A safe and effective vaccine should be a global research priority. Children with TB disease need to be diagnosed accurately and treated speedily in order to prevent serious complications. The diagnosis of TB remains elusive in most highburden countries due to the poor performance of the available tools and the lack of adequate laboratory services. It is imperative that novel rapid diagnostics are evaluated for use in the pediatric population. In addition to diagnostics, therapeutic options are also limited in children, especially those suffering from drug-resistant TB. Drug doses are mostly not evidence based, but extrapolated from adult clinical trials, and drug formulations are not tailored for children. This impacts adherence and eventual treatment outcomes. There has been very little research into new anti-TB drugs until recent years, mostly due to the lack of profitability of conducting therapeutic trials in poorer nations. If international and local commitment to improving the situation of children in underprivileged areas is not undertaken, children will continue to suffer unnecessary morbidity and mortality from preventable diseases such as TB. Abbreviations

ART Antiretroviral Therapy BCG Bacille Calmette-Guerin BPD Bronchopulmonary Dysplasia CF Cystic Fibrosis CNS Central Nervous System CXR Chest Radiograph DOTS Directly Observed Therapy Short Course HAART Highly Active Antiretroviral Therapy HIV Human Immune-Deficiency Virus IGRA Interferon Gamma Release Assays INH Isoniazid IPT Isoniazid Preventive Therapy MDR TB Multidrug-Resistant Tuberculosis MTB Mycobacterium tuberculosis

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PCR Polymerase Chain Reaction PMTCT Prevention of Mother-to-Child Transmission of HIV RTHC Road-to-Health Card TB Tuberculosis TNF Tumor Necrosis Factor TST Tuberculin Skin Test WHO World Health Organization XDR Extensively Drug Resistant

10.1 Introduction The health care needs of children living in tuberculosis (TB)-endemic areas have long been neglected. Childhood TB was previously viewed as the “dead-end” of TB disease, an entity of negligible public health importance. However, the past few decades have seen a resurgence of TB, largely fuelled by the Human Immune-deficiency Virus (HIV) epidemic. In 2008, more than 9 million new TB cases were reported; almost a quarter of the more than 2 million TB deaths occurred in HIV-infected individuals (WHO 2009). It is in this setting of an uncontrolled epidemic that pediatric TB has recently gained recognition as a pressing public health issue. It is estimated that in settings of high TB burden up to 15–20% of total TB cases occur in children (Marais 2006c). Although children mostly do not transmit TB to the same degree as adults, they make up a significant proportion of the total case load, are an indicator of poor TB control program, and also contribute to the pool of individuals who may reactivate their TB later in life. Childhood TB, in addition, is associated with considerable individual morbidity and mortality, particularly in the case of infants and HIV-infected children. TB is a disease which illustrates the interplay among many social, economic, medical, and demographic factors that contribute to the exquisite vulnerability to the disease experienced by children in developing countries and underresourced communities. TB can be viewed as a progression from exposure to the causative organism, Mycobacterium tuberculosis (MTB), to infection and to manifestations of disease. Disease can

10 Tuberculosis: The Special Needs of Children

then progress to cure, death, or variable degrees of temporary or permanent disability (Gie et al. 2009). At every stage of this disease continuum, children from underprivileged populations are at risk of progression to the next phase. Conversely, at every stage, interventions can be put in place to reduce the risk of this happening. This “transition framework” (Gie et al. 2009)can be applied to many other communicable and noncommunicable diseases that affect children in resource-limited settings. TB is presented here as an example. The aim of this chapter is to illustrate the special needs of children exposed to and suffering from diseases of poverty and systematically point out how these special needs are largely ignored by national health care programs and international funding bodies at large. Most of the specific needs of children can be addressed by improving the needs of families and improving health care in general.

10.1.1 The Contribution of Poverty and Lack of Access to Resources Many factors contribute to the huge disease burden suffered as a result of TB by children in developing countries. Poverty and lack of access to resources constitute the common string that ties most of these factors together. Poverty may not only contribute to TB (probably due to undernutrition, poor housing, and underutilization of health care), but itself may be exacerbated by the costs incurred due to the illness. The costs incurred by households as a result of TB and HIV may be catastrophic, with households in developing countries spending more than 10% of their incomes of illness-related costs (Russell 2004). Many patients with TB may resort to the selling of assets or take out unaffordable loans to pay for their treatment (Bates et al. 2004). For example, in Malawi, TB treatment costs 248% of monthly expenditure for poor patients and 124% of monthly expenditure for better off patients (Bates et al. 2004). In Tajikistan, the costs incurred during an episode of TB may be two and a half times greater than the per capita GDP, mostly during the early stages

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of TB (Aye et al. 2010). In Swaziland, patients themselves identified two aspects of poverty as highly important in undermining adherence to TB treatment: insufficient funds to attend the clinic for review and lack of food while on TB treatment (Escott and Newell 2007). The mutually reinforcing effects of poverty and TB need to be disentangled, and innovative strategies implemented to reduce poverty in those susceptible to TB, and minimize the economic impact of TB in households affected by the disease. Under these circumstances it is not difficult to imagine that children living in impoverished families are more vulnerable to both TB and HIV coinfection. Access to health care may be limited by a number of factors, from the side of the services themselves (supply-side factors), and from the side of the patients (demand-side factors; Bates et al. 2004). Supply-side factors include accessible clinics, adequately trained and empathetic staff, well-functioning diagnostic systems, and readily available drugs. In the current global economic recession, external funding for HIV in low- and middle-income countries has not increased in proportion with the increased numbers of patients accessing treatment (Chatterjee 2009). This may result in inadequate and poorly motivated staff, poorly available diagnostics, and drug shortages. These shortages will be compounded by administrative problems within individual health systems. Demand for health care may be reduced by the costs, both direct and indirect, of accessing health service (Bates et al. 2004). Even if poor patients manage to access the services once, ongoing contact may be impossible due to the high associated costs (Bates et al. 2004). Similarly, costs of medicines (where these are not free) may make treatment impossible to afford. In the case of HIV, failure to access treatment means an increased risk of TB infection in the individual and transmission of this infection to the community. In the case of TB, poverty has been associated with greater morbidity and mortality due to delays in accessing initial treatment, and undermining adherence to treatment once this has been accessed (Bates et al. 2004). The costs of accessing treatment are particularly burdensome

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Table 10.1 Strategies to prevent exposure to MTB Detection and treatment of adult infectious cases Early detection of cases Individual and community health education programmers Education and collaboration with traditional healers Improve accessibility of primary care health facilities to needy communities Accurate diagnosis Train primary health care staff to actively screen for TB Improve laboratory infrastructure and training of laboratory technicians Allocate resources for implementation of new sensitive and specific diagnostic tests Ensure treatment completion DOTS strategy Involve treatment supporters to oversee administration of medicines Home visits by volunteer or trained community health care worker Effective tracing programs for defaulters Infection control at home, at health facilities and in child care centers Administrative controls Isolation of TB patients in wards/clinics Reduction of hospital stay Limitation of hospital visits by vulnerable individuals Fast track adult TB suspects: diagnosis and treatment Environmental controls Natural and/or mechanical ventilation Ultraviolet germicidal irradiation High efficiency particulate air filtration Personal protection Early education of TB patients regarding “cough etiquette” Particulate respirators (masks) for short term exposure Provision of adequate housing Adequate size Adequate ventilation DOTS directly observed therapy short course

for women and the elderly, and include costs of transport, fees for services, and child care (Bates et al. 2004). In those screening programs where the onus is on the patient to attend the clinic for screening, these obstacles may prevent many children from accessing TB prophylaxis. Yet health care is only one of the resources to which children in poor communities have limited access. Equally important is lack of access to education and information, to safe and hygienic living and playing environments, to adequate nutrition, to a secure parental income.

10.1.2 Special Needs of Children in First Two Phases of TB: Exposure and Infection The initial step in the progression of TB in children and adults is exposure to the MTB bacillus. In children, the risk of becoming infected

following exposure is dependent on the dose of infecting organism, closeness of the contact, the duration of exposure, and the ability of the host’s immune system to fight off infection.

10.2 Prevention of Exposure to TB (Table 10.1) 10.2.1 Detection and Treatment of Infectious Cases Children are exposed to TB through their infected families and communities, and so the first method of preventing exposure to TB in children is to treat the adult and other childhood cases with whom they come into contact. In children younger than 2 years, the source of exposure is most often a household member, but in children older than 2, who are more “socially mobile”, the source of exposure is more often a community

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member (Marais et al. 2004). This implies the need for an effective health system, which is able to detect cases of TB early (before the infectious case spreads the bacillus), is able to diagnose TB accurately, and is able to treat TB completely. Although health systems in developed countries may be able to achieve these goals to a large degree, in many developing countries (where the burden of TB is higher), weaker health systems in many cases may fail to do so. Globally, only 64% of all new smear-positive cases of TB were detected in 2007, and only 57% of all new cases of TB (all forms; WHO 2009). These figures, which fall below the global target of 70%, mask wider interregional variation in case detection rates, with health systems in Europe, the Americas, and the Western Pacific region performing well, but health systems in Africa performing poorly (e.g., only 47% of all smear-positive cases of TB were detected in Africa in 2007; WHO 2009). Thus, although treatment success rates are high both globally (with a global rate of 85% in 2006) and in resource-poor countries (the treatment success rate in Africa in 2006 was 75%; WHO 2009), this represents only a proportion of all TB cases. The detection of TB cases in Africa and other developing countries can only reach the aforementioned targets via a multilevel approach: 1. The global scientific community must be committed to develop accurate point-of-care tests for TB diagnosis (WHO Global Plan to Stop TB 2011–2015), and to render these affordable to the countries with the highest burden of disease. 2. National and local governance must improve the accessibility of health systems to the populations with the greatest need. 3. Primary health care providers in TB-endemic areas should be trained to screen for symptoms of TB in every patient seen at the health facility. 4. Health education around TB should extend from schools to workplaces and community meeting places. Destigmatization of an often culturally abhorred disease needs to take place in order to empower individuals to take responsibility for their own health. In countries

where traditional healers are culturally important, they can be coopted by the health system to assist in the early diagnosis of TB in their clients. Where they are the first point of call in times of sickness, traditional healers can significantly reduce the time to diagnosis and treatment by being aware of the TB diagnosis and speedily referring patients likely to be suffering from TB to the health facility (Colvin et al. 2001). Although it has been argued that finding and treating TB in children is a far more effective way of dealing with the disease in this group than preventing and treating the disease in adults (Starke 2002), it cannot be denied that a decline in the infectious pool of TB in children’s contacts can only reduce the rate of exposure and therefore the incidence of infection in children. It has been demonstrated that as the number of smearpositive adult TB patients increases in a community, the number of children infected and developing disease increases exponentially (Donald 2002). Clearly, decreasing the infectious pool in the community will address the needs of vulnerable children.

10.2.2 Infection Control at Home, at Health Facilities, and in Child Care Centers TB is an airborne disease, spread by the aerosolization of bacteria through coughing and spitting. Inhalation of these bacteria may result in infection in the lung; contiguous, lymphatic, or hematogenous spread from the lung leads to involvement of other organs or to generalized dissemination. The advent of Multi-Drug-Resistant Tuberculosis (MDR TB), which is as infectious as drug-susceptible TB, and much more expensive and difficult to treat, makes infection control practices even more important in both public and private places (WHO 1999b). Prevention of exposure can be achieved though the education of infected patients to observe good “cough etiquette.” “Cough etiquette” is a way of coughing and disposing of sputum that ensures that bacilli are not released into the

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air, to infect others. Coughing behind a hand or other barrier (like a tissue or handkerchief), and disposing of sputum hygienically, such as into a toilet, are important components of infection control. Infected adults should be taught such procedures early in their contact with the TB program, so that the risk to those they live and interact with is diminished. Although MTB remains viable in moist and dried sputum for prolonged periods of time, direct contact is a much less common, and therefore less important, source of MTB infection. It is rather the act of coughing into a barrier such as a tissue that contributes to infection control, as it prevents aerosolization of TB-infected particles into the air. Exposure can also be prevented by removing “infected air” from the indoor environment, either through sophisticated measures such as negative pressure ventilation, which can be used in high-burden institutions such as health facilities, or through natural ventilation, which is appropriate for homes and other institutions, such as child care facilities.

10.2.2.1 Infection Control Measures at Health Care Facilities The ventilation of homes, institutions, and other buildings is another important way of reducing the burden of circulating TB bacilli. In the case of health facilities, it is particularly important to prevent the spread of infection from TB patients to other patients, children, and health staff. Because such facilities by definition house large numbers of infected patients, special measures may be needed to reduce the risk of exposure to infection. Infection control measures are classified into three main types: administrative controls, engineering controls, and personal respiratory protection (Humphreys 2007). Administrative controls (which are the most effective and the least expensive of the three) include: • The early detection and treatment of people with TB, especially those with pulmonary smear-positive TB.

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• Isolation or separation of TB patients from other patients, especially those who are HIVpositive. • Limitation of periods of hospitalization. • Limitation of hospital or health facility visits by vulnerable individuals such as children (WHO 1999b). The lack of provision by health facilities and clinics to ensure isolation of suspected or known infectious cases is potentially an important source of exposure for uninfected children and adults alike. Where space and resources are limited, one structure may be employed for multiple uses. It is not uncommon for infants attending well-baby clinics to share a waiting area with adult TB suspects, and for toilets to frequently double up as expectorating areas for the production of sputum to be examined. The clinics should be organized so that those suspected of having TB be fast tracked into areas where the risk of infecting children and other vulnerable populations, especially HIV-infected patients, be kept to a minimum. Infectivity among children with TB is generally considered to be low due to the paucibacillary nature of their disease: the bacillary load that causes disease in children is much lower than that of adults, and pediatric TB seldom presents with large lung cavities that communicate with the airways. Therefore, TB in children most often results in smear-negative (and frequently also culture-negative) sputum. However, in pediatric wards, children who do have smear-positive TB and those with cavities are infectious and should be isolated. Children with suspected MDR TB are of particular concern and should be isolated even if they have paucibacillary disease as they are of particular danger to their fellow patients, visiting parents, and staff. Environmental (engineering) controls, which should be used together with administrative controls, include: • Natural and/or mechanical ventilation. • Ultraviolet germicidal irradiation (UVGI, which inactivates bacilli and should be used in conjunction with ventilation). • High-efficiency particulate air filtration (WHO 1999b).


Personal protection is used as a final defense against exposure, in the form of particulate respirators (masks that trap minute particles and prevent inhalation of bacilli; WHO 1999b). As masks are not worn continuously, especially not in the presence of unsuspected TB cases, masks are really a last resort and should not replace effective administrative or engineering controls.

10.2.2.2 Infection Control Measures in the Home and Child Care Facilities Infection control measures are also important in the home, where the risk of exposure to TB may be even higher. Exposure, and infection resulting from this exposure, is more likely when children are in close and prolonged contact with an infectious case. If the infectious case is smearpositive, 60–80% of children become infected, and if the infectious case is smear-negative, 30– 40% become infected (Marais et al. 2004). The longer the duration of exposure to an infectious case, and the closer the proximity to the child, the greater the likelihood of the child developing infection (Marais et al. 2004). For a child, the home environment is therefore probably an even more important source of infection than the health facility. UVGI and high-efficiency particulate air filtration are practically very difficult to implement in homes and child care centers. As TB is primarily acquired by inhalation of infected respiratory secretions/droplets, the level of ventilation in the home, its spaciousness and the period of infectiousness of household adult TB cases, are the most important variables in determining the levels of circulating bacilli (Wood et al. 2010), which can remain suspended in the air for 45–80 minutes after expectoration. In addition to these attributes (discussed in more detail under “provision of adequate housing” below), other infection control measures in the home can limit the spread of infection. These include separate living areas for infected household members (if the size of the house permits), the opening of windows (if weather and security concerns permit), and the use of particulate respirator masks

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by uninfected household members and visitors (WHO 1999b). Similar measures to those used in the home could be employed in child care facilities, where children are exposed to many infectious diseases, including TB. More specifically, programs targeting prevention and health promotion in these centers could be set up to provide training in the basic principles of hygiene, as well as to screen carers regularly for TB symptoms and refer rapidly to a health care facility if necessary.

10.2.3 Provision of Adequate Housing Although the relationship between house size and development of TB is contested, it is suggested that overcrowded conditions do facilitate the spread (through airborne droplets) of TB (Bates et al. 2004). In fact, overcrowding is thought to be one of the factors responsible for the long acknowledged but debated associations between poverty and TB (Spence et al. 1993). Thus, in order to limit the spread of infection from cases within the household, children need to live in well-ventilated houses that are of adequate size and not overcrowded. Governments have a responsibility to ensure this, and many take active steps to do so. For example, in South Africa, there has been considerable progress in the provision of adequate housing since 1994. The proportion of households living in formal dwellings has increased from 64% in 1996 to 71% in 2007 (Community Survey 2007, quoted in Day et al. 2009, p. 252). In warm climates, where much of day time is spent outdoors, exposure to infection is less likely. However, at night when doors and windows are often closed for security reasons, and in cold climates where much time is spent inside, the chance of exposure to the TB bacillus is high (WHO 1999b). Simply opening windows and doors, where this is possible, provides more ventilation than mechanical ventilation systems and would contribute significantly toward reducing circulating airborne bacilli (Escombe et al. 2007). In sub-Saharan Africa, where the highest burden of TB and HIV occur (Escombe et al. 2007), the

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Table 10.2 Strategies to prevent infection with MTB Nutrition Governmental and nongovernmental food supplementation programs Micronutrient supplementation Self-sustaining community-based food-generating initiatives Income-support initiatives Income grants for the unemployed Prevention and treatment of HIV infection Prevention of HIV infection in Governmental and nongovernmental initiatives promoting safe sexual practices adults Community education programs Upliftment of women Timely post-exposure prophylaxis in cases of rape Prevention of HIV infection in Effective and well-coordinated PMTCT program children Potent antiretroviral drugs in pregnancy and in the perinatal period for mothers and infants Safe management of labor and delivery Appropriate maternal counseling around safe infant nutrition Early testing of infants by HIV PCR Integration of infant and ARV clinic services so that babies who fail PMTCT are fast-tracked to start HAART urgently Sex education programs for adolescents Treatment of HIV infection in Access to potent and safe HAART regimens adults and children Early treatment of HIV-infected infants Regular monitoring to detect treatment failures early Engagement of treatment supporters to encourage excellent adherence Integration of adult and child HIV clinics for family-centered care Research needs Effective, safe, and affordable TB vaccine Effective, safe, and affordable HIV vaccine New safe, effective, and affordable HIV drugs HAART highly active antiretroviral therapy; PMTCT prevention of mother-to-child transmission; PCR polymerasechain reaction

opening of windows and doors at home should be strongly encouraged by health care workers.

10.3 Prevention of TB Infection (Table 10.2) 10.3.1 Provision of Adequate Nutrition Poverty and lower social class have shown to be directly associated with increased incidence of TB. The decline in incidence of TB in the early part of the twentieth century has been presented as evidence supporting this (McKeown and Record 1962), although others have suggested that natural selection was also instrumental in the

phenomenon (Davies et al. 1999). However, it does seem clear that malnutrition, which is one of the most important consequences of poverty, plays a significant role in the progression from TB exposure to infection (Long 2004). Food shortages, and specifically protein shortages, as well as deficiencies in vitamin D, iron, and zinc, have been implicated in the development of TB infection and disease (Bates et al. 2004), probably through their effects on the immune system. The Academy of Sciences of South Africa (ASSAF 2007) stated that nutritional supplementation of undernourished children could reduce the incidence of TB. Indeed, it has also been suggested that “the maintenance of a replete nutritional status may be the most important treatment

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we can offer…” for latent TB infection (Long 2004, p. 276). Sadly, malnutrition is still widespread globally, with 22% of children over the world classified as undernourished (Blössner and de Onis 2005). Although the number of malnourished children worldwide decreased over the 1990s, in Africa the number continued to rise (from 26 to 32 million) and continues to do so (Blössner and de Onis 2005). Nutritional status of children in South Africa has deteriorated in the past decade (Swart et al. 2008). This has occurred against a backdrop of longstanding undernutrition among deprived children in this country. Stunting (low height for age) is the most common form of malnutrition in South Africa, implying a chronic lack of food over long periods (ASSAF 2007). Although the deterioration in nutritional status can be attributed at least in part to the mutually reinforcing effects of HIV and malnutrition (ASSAF 2007), it is also due to the high prevalence of food insecurity1 in the country. “Between 11 and 17 million South Africans are considered food insecure, with 38% of African households often or sometimes going hungry” (ASSAF 2007). In order to prevent the development of TB infection and disease, children at risk of undernutrition should be provided with a nutrient-rich and balanced diet. Adequate nutrition and housing can be provided directly by governments and nongovernmental organizations. Examples include school feeding programs, soup kitchens, fortification of staple foods, and housing projects. Nutrition (and housing) can also be improved by providing income support for poor families, through the provision of social grants, public work programs, microfinance schemes, and others. Social grants (e.g., old-age pensions and child support grants) have the widest coverage of all of these strategies, and the most significant impact on health. Countries with strong social grant systems have been shown to have better population health (Lundberg 2007 quoted in WHO 2008, 1 Food insecurity can be defined as the lack of “access to food, adequate in quantity and quality, to fulfill all nutritional requirements for all household members throughout the year” (Jonsson and Toole 1991).

pp. 90–92) and the nutritional status of children has shown to be improved in households which receive an old-age pension (WHO 2008, pp. 87– 89). In South Africa, social grant spending has increased massively since the advent of democracy in 1994 (Friedman and Bhengu 2008, p. 108), and although it is debatable as to whether the levels of poverty in the country have decreased since that time (du Toit 2005), it seems that the percentage of children living in poverty in the country has decreased from 43% to 34%, and the percentage of children living in ultra poverty from 13% to 4% (Rispel et al. 2009).

10.3.2 TB Vaccine (Table 10.3) The only vaccine currently in use against TB, the Bacille Calmette-Guerin (BCG) vaccine, was discovered approximately 100 years ago (Hawkridge 2009). This vaccine does not prevent infection with MTB. It is for this reason that new vaccines against TB are currently being researched, with the possibility of the licensing of a new vaccine in 2015 (Hussey et al. 2007). However, even if a new and effective vaccine is produced, it may not be accessible by the very people who need it most. Vaccine coverage in developing countries, and in poor areas of developed countries, may be low, due to large distances from the home to the clinic, inability to meet the costs of travel to the clinic (Ndirangu et al. 2009), and conflict situations in the region (Mashal et al. 2007). It is thus important that, even in the presence of an effective, safe, and affordable vaccine, additional measures be put in place to assist children to access immunization, particularly in contexts of poverty and/or conflict (Table 10.3).

10.3.3 Prevention and Treatment of HIV Infection A further factor affecting the rate of exposure of children to TB, and the development of infection as a result of this exposure, is the prevalence of HIV in the population, and the presence of HIV infection in the child. Infection with HIV results

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Table 10.3 Factors contributing to TB disease susceptibility Host factors Pathogen factors Primary immune-deficiency Immunity Bacillary load Secondary immune-deficiency: – HIV infection – Young age – Recent measles infection – Chronic medication: steroids, TNF blockers – Diabetes mellitus Protein-energy malnutrition Malnutrition Strain/virulenceb Vitamin A deficiency Drug susceptibility Vitamin C deficiency Vitamin D deficiencya Missed BCG vaccination Lack of prevention Missed IPT Genetic predisposition HIV-related chronic lung disease Chronic lung disease BPD CF Postmeasles and pertussis

Prolonged exposure Contact with adult with cavitatory disease (pulmonary TB with lung cavities, in which TB bacilli actively multiply and can be coughed up)

No preventive strategy for contacts of drug-resistant TB cases

BCG bacille calmette guerin; BPD broncho-pulmonary dysplasia; CF cystic fibrosis; IPT isoniazid preventive therapy; TNF tumor necrosis factor; a Scientific evidence inconclusive but suggestive b No scientific data, requires further study

in a higher risk of TB infection and disease in both adults and children, and the prevention and treatment of HIV in both the adult and childhood population is a critical factor in reducing the incidence of TB. Adults infected with HIV are more likely to develop TB and transmit the disease to children, and children infected with HIV are more likely to become infected with TB after exposure, and to develop TB disease (Martinson et al. 2009). HIV-infected infants under 12 months of age have a 24-fold increased risk of developing TB (Hesseling et al. 2009b). Therefore, it is just as important that adults and children be treated for HIV as TB. It is also crucial to prevent the spread of HIV in the population, in adults through the conventional “abstain, be faithful, condomise” approach and in children through the prevention of mother-to-child transmission (PMTCT) of HIV. To adequately achieve all these outcomes, health systems must provide HIV prevention support and treatment for HIV infection to all eligible patients, and patients must adhere to the treatment programs. In addi-

tion, HIV and TB services need to be integrated in order to optimally manage patients with dual infection. WHO recommends that all patients with HIV be screened for TB before starting antiretroviral therapy. Conversely, all patients with TB should be offered HIV testing (WHO 2010b).

10.3.3.1 Prevention of HIV Infection in Children In low- and middle-income countries, only 26% of pregnant women had an HIV test to determine their status in 2009. Worldwide, 53% of HIV-positive women receive interventions to prevent transmission of HIV to their children (WHO 2010a). If no preventive measures are put in place, 20– 35% of children born to HIV-positive mothers will become infected in the perinatal period or during breastfeeding (Del Fraissy et al. 1992; Ryder et al. 1989). A well-functioning PMTCT program can reduce this risk to <5% (Becquet et al. 2009). The new interventions now employed are more likely to be the more efficacious regimens than the single-dose nevirapine (WHO


2010). However, the low proportion of women in less developed countries who gain entry to the PMTCT program through an HIV test means that an unnecessarily high number of infants in these countries will become infected with HIV, and so vulnerable to TB. PMTCT is a comprehensive plan that covers the entire time span from conception to the time of weaning. As new and more effective preventative measures are discovered through research, PMTCT programs need to be revised, updated, and made affordable to developing countries. Other interventions that reduce the transmission of HIV to babies and infants should also be included in the care of HIV-infected mothers. These would include appropriate and timely antiretroviral treatment for the mother, reduced interventions during labor and caesarian sections where possible. Exclusive formula feeding, taking into account the higher mortality in non-breast-fed babies mainly secondary to diarrheal and respiratory illnesses, should be encouraged where feasible, accessible, and affordable (Coovadia et al. 2007). ARV prophylaxis should be administered to all HIV-exposed infants postnatally. Current guidelines recommend giving HIV-exposed infants 7–28 days of postnatal antiretrovirals (Becquet et al. 2009). Recent research studies in which extended prophylaxis was given to either mothers or infants to cover the entire period of breastfeeding have shown up to 70% reduction in vertical HIV transmission (Shapiro et al. 2010; Chasela et al. 2010). Although these regimens carry a potential risk of developing drug resistance, it is hoped that the number of children that would become infected despite prevention, and, in addition, develop viral resistance and require second-line antiretroviral therapy (protease inhibitors) would be small. Maternal consequences of extended postnatal ARVs (drug resistance, adverse drug effects) require further study.

10.3.3.2 Treatment of HIV Infection in Adults and Children Approximately 33 million people are currently living with HIV worldwide. The scale of the epidemic alone poses considerable challenges for

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health services. HIV testing has increased worldwide with more people becoming aware of their status, but in some countries, most notably in Africa, the number of people who are tested and know their status remains low (WHO 2010a). Even among patients who are tested for HIV, many may not remain within the program to receive their CD4 results. For example, in a South African setting, only half of the patients who were eligible for ART returned to receive their CD4 results (Larson et al. 2010). Infected individuals who do not access treatment are likely to spread both the HI virus as well as TB, a frequent coinfection. Indeed, 1.4 of the 9.4 million new cases of TB in 2008 occurred in people who were infected with HIV (WHO 2010a). TB infection is an important entry point for HIV testing and although counseling and testing for HIV among TB patients is increasing worldwide, it remains low; only 22% of TB patients had been tested for HIV in 2008 (WHO 2010a). Antiretroviral treatment for patients with TB similarly is low, as is the use of isoniazid prophylaxis for patients with HIV (WHO 2010a). Highly active antiretroviral therapy (HAART) has significant benefits for both adults and children both in terms of prognosis with HIV, and in terms of TB infection and disease. Early ARV therapy to infants reduces mortality and prevents rapid decline in CD4 counts (Violary et al. 2008), which is associated with increased susceptibility to TB. Antiretroviral therapy is probably the most effective way of reducing TB incidence in HIVpositive children. A study in South Africa showed that the incidence of TB was reduced by 70% in children who were receiving HAART (Martinson et al. 2009). There was a 12% reduction in the risk of any form of TB for every month of treatment with HAART, and for every unit increase in CD4 count, the risk of TB decreased by 0.4% (Martinson et al. 2009). Starting HAART before the first episode of TB is important as HIV-infected children are at risk of TB recurrence both through reinfection and reactivation (Schaaf et al. 2005). Continuity between pre- and postnatal services is therefore paramount to ensure that HIV-exposed infants are tested early by HIV DNA polymerase chain reaction (PCR), a test

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that is specific, sensitive, and accurate. Antibody testing is not adequate in children < 18 months of age and health authorities throughout the developing world should aim toward early PCR testing of all infants. In addition, research into a quick, accurate point-of-care diagnostic test for young children should be a priority worldwide. Although some countries have achieved universal access to antiretroviral treatment and interventions to prevent mother-to-child transmission of HIV, many have not (WHO 2010a). In low- and middle-income countries, only 36% of all patients have access to antiretroviral treatment at CD4 counts of 350 cells/mm3, and only 52% at CD4 counts of 200 cells/mm3 (WHO 2010a). Among children younger than 15 years, only 28% have access to antiretroviral therapy (ART; WHO 2010a). Poor access to health care limits the numbers of patients who are tested for HIV and TB and who receive treatment for these. Among those who do have access to ART, adherence must be excellent in order to fully benefit from the treatment and to reduce the risk of TB infection and disease. After a year of treatment, the average percentage of patients still on ART in low- and middle-income countries in 2008 was 82% (WHO 2010a). However, poverty and food insecurity undermine both adherence to treatment and outcomes on treatment. Patients have been shown to make “impossible choices” in order to obtain and take their treatment, such as borrowing, begging, and doing without other necessities of life (Ware et al. 2009). Money for transport to the clinic is considered an important factor in patients’ inability to attend the clinic for their appointments and to collect their medicines, with missed appointments leading to missed doses (Tuller et al. 2009). Patients who are food-insecure are also less likely to adhere to treatment, have lower baseline CD4 counts, incomplete virological suppression, and are less likely to survive (Anema et al. 2009; Weiser et al. 2009). In the light of the effect of poor nutrition on the incidence of TB, the importance of providing nutritional support to vulnerable populations is highlighted, as is the need for accessible health care resources.

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10.4 P revention of Progression from TB Infection to Disease (Table 10.4) Children who have been infected with the TB bacillus constitute a vulnerable group at high risk of progression to disease. This risk is highest soon after infection, and decreases with time (Marais et al. 2004). Whereas adults have a uniform 10% lifetime risk of developing TB disease after infection (Bloom and Murray 1992; Vynnycky and Fine 2000), except in the case of HIV coinfection where the risk rises to 10% per year (WHO 1999a), the risk of progressing to disease varies in children, primarily dependent on age and immune status. Therefore, certain categories of children are at particularly high risk of progression, and merit prompt identification and preventive measures to halt this process. A comprehensive set of factors that contribute to TB disease susceptibility is given in Table 10.3. The most important factors and strategies to address these are discussed in detail below.

10.4.1 Age-Dependent Needs Young children < 2 years of age have the highest risk of developing disease after infection. Up to 50% of infants < 1 year and 25% of children < 2 years progress to active disease once infected (Marais et al. 2004). Studies have shown that infants have deficient macrophage activity and immature T cell immunity (Lewinsohn et al. 2004), which reduce their ability to contain infection by the TB bacillus. It is important that young children in contact with a known adult TB case are rapidly identified and administered Isoniazid Preventive therapy (IPT). These children should be followed up closely and monitored for the development of symptoms of TB as this group is also highly susceptible to rapid progression to severe forms of the disease. Perinatal TB constitutes a particularly aggressive form of TB. Even if treated, mortality can reach up to 60% in situations of delayed diagnosis, prematurity, or HIV coinfection (Whittaker and Kampmann 2008). Diagnosis is often


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Table 10.4 Strategies to prevent progression from MTB infection to disease Age-dependent needs Infants

Adolescents HIV infection Comprehensive PMTCT programs HIV-infected children

Screen all pregnant women in high TB-burden settings for TB at each antenatal visit All neonates should receive BCG vaccination. Exception: HIV-infected infants Investigate all infants with symptoms suggestive of TB or with nonresolving pneumonia See prevention issues below. All TB-exposed and infected infants should receive IPT. Infants on IPT need close follow-up for adherence and symptom monitoring Consider IPT in TB-endemic areas No newborns symptomatic of HIV infection or HIV-infected infants should receive BCG Early HAART, especially in TB-endemic areas IPT if in contact with known adult TB case, regardless of child’s age Universal IPT to all HIV-infected infants and children in high TB-burden areas

Prevention issues Implement and enforce a national IPT program Screen young children (< 5 years) in contact with known adult TB case. If not diseased, administer IPT under directly observed therapy Children receiving IPT should be entered in a prophylaxis register and monitored closely for TB symptoms. Health status, adherence and completion of IPT should be documented Nutrition Maternal education around adequate and appropriate age-dependent nutrition Subsidized nutrition supplementation programs for undernourished children Correct use of RTHC and early identification of underweight Early intervention for moderate malnutrition (underweight-for-age) Fortification of staple foodstuffs with trace elements, vitamins, and minerals Vitamin A supplementation programs ? Vitamin D supplementation for vulnerable age groups Research needs Prevention

Improve diagnosis

Develop a more effective TB vaccine, safe for HIV-infected children Research markers of lasting TB immunity Define role of primary IPT in HIV-infected children from high TB-burden settings Investigate best prophylaxis regimens for children in contact with MDR/XDR cases Develop shorter TB prophylaxis regimens Research role of IPT in adolescents living in TB-endemic areas Develop new tests to identify recent TB infection Research markers to distinguish TB infection from disease Improve diagnostic tools: – Refine currently available tools – Develop new tools with improved sensitivity and specificity

Research role of immune modulation as an intervention to prevent TB infection and disease, e.g., role of Vitamin D BCG bacille calmette guerin; HAART highly active antiretroviral therapy; IPT isoniazid preventive therapy; MDR multi-drug resistant; PMTCT prevention of mother-to-child transmission; RTHC road-to-health card; XDR extremely drug resistant

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delayed because of lack of clinical suspicion and of enquiry around maternal health status. TB screening should form an integral part of antenatal services in areas of high TB prevalence. A nonresolving pneumonia in an infant should always prompt TB investigation in these areas. At the other age extreme, adolescents demonstrate increased vulnerability to reactivation or adult-type disease (Marais et al. 2004). Adolescents are also a neglected group in high diseaseburden settings (Bennett and Eisenstein 2001; Ferrand et al. 2010). The paucity of dedicated adolescent clinics translates in these individuals having to make use of adult services, which are not sensitive to the adolescent’s particular needs. This can contribute to late diagnosis and poor adherence to therapy. The equitable distribution of health care resources should include provision for separate facilities for the adolescent population.

10.4.2 Immune Deficiency In Southern Africa, HIV infection has created a large pool of children with impaired immunity. Specifically, the destruction and defective function of CD4 T cells characteristic of HIV infection greatly increases susceptibility to mycobacterial infection and disease (Sonnenberg et al. 2005). Studies have documented a TB incidence of up to 50% in HIV-positive children in high TB-burden countries (Walters et al. 2008). While being at greater risk of developing TB disease, the diagnosis of TB in HIV-infected children poses significant challenges. HIV infection and TB present with similar constitutional symptoms—prolonged fever, poor weight gain/weight loss, as well as generalized lymphadenopathy and hepatosplenomegaly. Tuberculin skin test (TST) is less sensitive in the presence of HIV infection. In addition, the frequency of respiratory coinfections and chronic lung disease make the interpretation of signs, symptoms, and chest radiography difficult. As a result, HIV-infected children are in danger of under- and overdiagnosis, both situations carrying potentially grave consequences for the child.

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Numerous strategies have proven efficacy in reducing the impact of HIV infection on the TB epidemic, but they all require committed policy makers at a national and local government level, and a well-coordinated service for maternal and child health. PMTCT and ART in children have been discussed above. IPT is another effective strategy to prevent HIV- positive children from progressing from infection to disease (IUAT 1982). (Also see below: “Preventative therapy”). Isoniazid (INH) should be administered to all HIV-infected children in close contact with a known adult TB case irrespective of age. Unlike HIV-infected adults, there is insufficient evidence to recommend primary INH to all HIV-infected children with low CD4 counts living in TB-endemic areas. In a large prospective childhood trial from South Africa, primary INH was associated with reduced TB incidence and all-cause mortality, but the precise mechanism underlying the latter effect remains unclear and warrants further studies (Zar et al. 2007). Most of the children in this study were not receiving HAART. A more recent study of primary INH prophylaxis to HIV-positive children, carefully screened for TB exposure, most of whom were on HAART, showed no benefit over placebo (Madhi et al. 2008).

10.4.3 Preventative Therapy 10.4.3.1 Vaccine BCG vaccine is moderately effective in preventing disseminated forms of TB in children, such as miliary and central nervous system (CNS) TB. However, it does not protect against the development of pulmonary TB (Lambert et al. 2009). In addition, the safety of BCG in malnourished and immune-suppressed children has recently been questioned (Udani 1990; Hesseling et al. 2006). Despite the limited efficacy of BCG, it is crucial that newborns living in TB-endemic areas receive the vaccine in order to reduce the risk of severe forms of childhood TB. Premature and low birth weight babies requiring prolonged hospital stay are at risk of missing BCG vaccination due to oversight: a system should be in place to

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ensure that such infants receive the vaccination before discharge from the health facility. HIV-infected children pose a particular problem, as they are simultaneously more susceptible to TB, but also at risk for the development of serious vaccine reactions to BCG (Hesseling et al. 2009a). In addition, the efficacy of BCG vaccination in HIV-infected children has not been thoroughly studied and has recently been questioned, as HIV-infected children continue to experience disproportionate morbidity and mortality from TB despite vaccination, compared with their uninfected peers (Hesseling et al. 2009a). These findings have led the WHO to listing HIV infection as an absolute contraindication to BCG vaccination. However, current WHO guidelines continue to advocate immunization with BCG to all infants where HIV status is not determined, as it is practically very difficult to determine HIV status in the early neonatal period (WHO 2007). It is evident that the development of a new, more effective, and safe TB vaccine should be prioritized, in order to protect this vulnerable population. Once again, accessibility of a new vaccine to needy populations must be ensured.

10.4.3.2 Isoniazid Preventive Therapy (IPT) Young children < 5 years of age, and all HIV-infected children in contact with adults with PTB, are at high risk of infection and progression to severe disease. IPT taken daily for 6 months is an effective measure to prevent TB disease in child contacts of adult cases (IUAT 1982). However, the implementation of IPT in resource-limited settings presents numerous operational difficulties. Studies from developing countries concur in their observation that uptake of IPT in these settings is poor, mainly due to lack of human resources for contact tracing and monitoring. Only 10–20% of child contacts eligible for IPT are traced and commence prophylactic therapy (Claessens et al. 2002; Van Wyk et al. 2010). In addition, adherence to 6 months of prophylaxis is uniformly low. The WHO recommends setting up a “prophylaxis register” for recording and monitoring of these cases, and advocates that the health care worker involved with the source case also be responsible for the tracing and manage-

ment of close child contacts (WHO 2006). Practically, this remains challenging as any one health worker usually oversees the treatment of a large number of TB cases and finding all the close contacts, in a setting where informal housing, overcrowding, and population mobility is prevalent, can be a nearly unachievable task. A solution may be to involve community volunteers to help with contact tracing and the overseeing of treatment. In the absence of more resources and enthusiasm to address TB prevention, children will continue to suffer from preventable TB.

10.4.4 Malnutrition As previously discussed, TB and malnutrition go hand-in-hand. It is established that TB contributes to malnutrition via a number of mechanisms (Macallan 1999). The inverse—malnutrition being a predisposing factor for the development of TB disease after infection—has not been proven conclusively. A few wartime epidemiological studies suggest that reduction of protein and calories from diets during that time caused the prevalence of TB to escalate, whereas dietary supplementation with the same nutrients resulted in a significant reduction in incident TB (Cegielski and McMurray 2004). In vitro and animal studies also demonstrate the adverse effect of protein restriction and deficiencies of vitamins A, C, and D on the immune mechanisms important for the containment of TB (Cegielski and McMurray 2004. Although childhood studies are lacking, it is plausible to believe that protein malnutrition and vitamin deficiencies are likely to potentiate the immunological deficiencies inherently present in this population and contribute to susceptibility to clinical disease after infection. Strategies to improve nutrition in underprivileged populations have been discussed above.

10.5 Prevention of Serious sequelae of TB Disease Children with TB have a favorable prognosis if the disease is diagnosed in the early stages, if they are administered adequate drugs and are

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ensured good adherence. However, in underresourced areas there are many barriers that prevent this from being achieved.

10.5.1 Disease to Diagnosis 10.5.1.1 Development of Symptoms to Clinical Investigation The symptoms of TB are dependent on the organ involved. The symptoms are very nonspecific and overlap with many other diseases, especially in children who are dually infected with HIV and TB. The most common general symptoms are fever, lethargy, and weight loss, while the most common organ-specific symptom is persistent cough lasting more than 2 weeks. The nonspecific presentation of TB contributes to the delay in the recognition of this disease. In South Africa, children with TB had symptoms for a mean of 4.3 weeks before presenting to a health care center, but it took an additional 5 weeks before the staff at the center made the diagnosis. The delay was the longest due to “doctor delay” before notification and initiation of treatment (Beyers et al. 1994). In this article, “doctor delay” was the time from presentation at the clinic until the doctor started investigating the child for possible TB. Similarly, in a Malawian study of 659 hospitalized patients with smear-positive TB, only 12% of their young children were screened for TB (Claessens et al. 2002). From data like these it is clear that children are not regarded as being at risk for developing TB or suffering from TB even in high-burden countries where TB is endemic. The recognition of TB is further complicated by the fact that TB can be the causative organism in 7% of young and immune-suppressed children presenting with acute pneumonia (Zar 2004). This fact is poorly recognized, as has been shown in a hospital-based study where TB was either the second or third commonest cause of death for children of all ages hospitalized for pneumonia. Death from unrecognized TB pneumonia was more common in HIV-uninfected children than HIV-infected children (Chintu et al. 2002). Another group of children requiring special attention are newborn infants, where TB is not

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thought of or recognized as a disease even when the mother has a chronic cough or suspected TB (Heyns et al. 2006).

10.5.1.2 Presentation with Symptoms to Diagnosis The symptoms of childhood TB are often nonspecific and commonly overlap with other childhood diseases. In middle- and low-income countries where there is a high prevalence of adult HIV infection, infants and children are often infected with HIV by vertical transmission. These children develop HIV-related lung disease, which shares the same nonspecific symptoms with pulmonary TB, while cervical lymph gland enlargement commonly occurs in both HIV and TB. This situation is further complicated by the HIV-infected child’s vulnerability to develop TB even after the initiation of highly active antiretroviral therapy. Special Forms of TB Common in Children Approximately 20% of children present with forms of TB other than pulmonary TB. The commonest forms are cervical and abdominal lymph gland enlargement. TB meningitis is a less common form of TB that is often diagnosed after the child has developed extensive neurological disease and is often irreversible even with treatment. Prevention of lifelong neurological incapacity is only achieved if the TB meningitis is identified early in its clinical course and treatment is started promptly. TB meningitis is often not clinically recognized during the early phase and effective treatment is delayed, leading to death or severe neurological disability. Special Investigations to Diagnose TB in Children Not only is the diagnosis of TB complicated by overlapping symptomatology but also by the poor diagnostic yield and performance of special investigations available for the diagnosis of TB in children. The tools available to diagnose TB in children have been available for more than a century: the tuberculin skin test (Mantoux skin test), chest radiograph, and culture of the TB bacilli. These century-old tests are fraught with imprecision:


1. Tuberculin skin tests (TST): The tuberculin skin test is widely used to diagnose TB infection in children. However, this test only identifies approximately 60% of children diagnosed with TB and has both high false positive and false negative rates, leading to both the overdiagnosis and underdiagnosis of TB in children. The most common TST used is the Mantoux skin test but, in common with all forms of TST, lacks both sensitivity and specificity especially in areas where BCG vaccine coverage is high. New tests have been developed to replace TST that are not influenced by BCG and rely on the response of circulating lymphocytes to TB antigens: Interferon Gamma Release Assays (IGRA). These tests are widely propagated in industrialized countries but there are little data to support their use in children, particularly in countries with a high HIV prevalence. It is especially in these countries that the diagnosis of TB infection in children needs to be specific enough to either confirm the diagnosis of TB in order to initiate treatment, or to signify simple infection and thus be an indication of the need for TB preventative therapy. It is clear that better tests need to be developed to accurately diagnose TB infection in children. 2. Chest radiography: The chest radiograph (CXR) is the most widely used special investigation to diagnose TB in children in spite of its many limitations. A technically acceptable CXR in a young child is a challenging task and requires a welltrained radiographer. The findings of different radiologists correlate poorly, indicating the difficulty in interpreting the radiographs of children suspected of having developed TB (Swingler et al. 2005). The usefulness of this tool is further reduced by the limited access to chest radiographs and radiologists in lowincome countries. 3. MTB cultures: The majority of children suffer from paucibacillary TB, which together with the difficulty in collecting sputum samples especially from young children, makes the diagnostic yield of cultured MTB low in children. For this reason,

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gastric aspirates are used to collect swallowed sputum samples. This technique is invasive, unpleasant, and has a reported diagnostic yield of 20–30%. Although cultures obtained from selected patient populations (with advanced disease) by experienced clinical staff have been reported to reach a positivity rate of over 60% (Marais 2006b), this is still far from achieving the status of “gold standard.”More recently, hypertonic saline-induced sputum has been used to collect sputum samples in children of all ages (Zar et al. 2005). This technique has not substantially improved the diagnostic yield but has made the collection of samples more feasible. With new PCR-based diagnostic techniques becoming available to diagnose TB (including drug-resistant TB), the importance of new collection techniques becomes imperative. If the question of optimal specimen collection is not solved or if new diagnostic techniques are not developed, a gold standard for the diagnosis of TB will remain elusive, hampering both research and treatment of childhood TB. Clinical scoring methods, which combine clinical signs and symptoms with the various diagnostic modalities, are employed in many developing countries in order to facilitate diagnosis of pediatric TB. However, these tools have limited utility, as the definitions used are not standardized, and they are not validated by prospective studies (Hesseling et al. 2002). Recently, a simple method of combining well-defined symptoms showed good sensitivity and specificity among HIV-uninfected children older than 3 years (low-risk group), but performed poorly in children younger than 3 years and in HIVinfected children of any age (high-risk group). Of particular interest is that TST added little value to the diagnosis in the low-risk group, but improved the accuracy of the diagnostic tool in children < 3 years, although its sensitivity in this group remained low (Marais 2006a). From the above it is clear that the diagnosis of childhood TB remains challenging in the face of the diversity of pediatric populations, the limited accuracy of available tools and the difficulty in obtaining culture confirmation (i.e., the effective absence of a gold standard). New diagnostic tests

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that can rapidly diagnose TB infection and disease in children are urgently needed. At present most approaches are concentrating on the diagnostic needs of the adult forms of TB and are not taking the needs of children into account during their stages of development.

10.5.2 Diagnosis to the Initiation of Treatment 10.5.2.1 Drugs, Drug Dosages, and Child-Friendly Treatment The drugs routinely used in the treatment of TB were discovered more than 50 years ago with no new drugs available for routine treatment on the horizon. There are many reasons for the lack of new drugs. First, pharmaceutical companies see very little profit in investing in TB as the majority suffering from TB lives in low-income countries where little profit is to be made from new drugs. This is illustrated by the fact that 95% of children suffering from TB live in the 22 highburden countries, all without exception being middle- to low-income countries, further limiting profits. Lastly, the annual market for childhood TB treatments is presently calculated to be little more than 250,000 treatments per annum. In many parts of the world, there are very few childfriendly TB drugs. The crushing of adult tablets results in inaccurate dosing and forces children to ingest unpalatable adult drugs to treat their TB. Although isoniazid is the mainstay of childhood TB treatment, its pharmacokinetics have been poorly studied over the past 50 years. Only recently has this area has been systematically researched. The research demonstrates that over the decades children have been underdosed (McIlleron et al. 2009). In the under 2-year age group, where there is the greatest change in pharmacokinetics of drugs over time, there is a paucity of data, making it very difficult to propose treatment dosages with any precision. Many preterm neonates, especially those born to HIV-infected mothers, are at increased risk of being exposed to TB. They require either treatment for disease or chemoprophylaxis to prevent

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disease but the data to guide correct dosing are completely lacking and the risk of developing adverse effects unknown. This absence of data is not unique to isoniazid, but common to all TB drugs and antiretrovirals. Optimal dosages as well as duration of treatment are yet to be determined for children. Randomized controlled drug trials to determine the best treatment regimes in children with serious life-threatening TB are lacking and unlikely ever to be undertaken due to the costs and poor return on investment. This is in common with other orphan diseases in children, but the commitment to investigate diseases that commonly occur in poor-income countries is also lacking. It has recently been proposed that the outcome of randomized controlled trials in adult patients be accepted and that the dosages in children be adjusted according to pharmacokinetic studies in adults. This approach might be practical and cost-effective, but could compromise the care of children.

10.5.2.2 Adherence to Treatment Children are dependent on their caregivers to ensure adherence to treatment. Children with diseases that are not life-threatening are less likely to complete treatment. Treatment completion rates of children who started TB therapy were only 40% in Malawi (Harries et al. 2002), while in South Africa only 25% of children placed on preventative therapy completed the recommended 6 months (Van Zyl et al. 2006). This is especially tragic as treatment success exceeds 95%.

10.5.3 Outcome on Treatment The outcome from treatment is highly dependent on the clinical form of TB, with TB meningitis having a high morbidity in the majority of cases even when highly developed medical care is available. Novel basic and clinical research is urgently needed to improve the outcome of all children suffering from these severe forms of TB. However, this research is unlikely to occur as severe TB hardly ever occurs in high-income


countries and the resources to fund this form of research are unlikely to be made available.

10.6 Recommendations • The health care needs of children from TBendemic areas are diverse. The low IPT uptake and the underrecognition and underdiagnosis of childhood TB are markers of failing health systems. • Health care facilities and services to children need to receive urgent attention. • In the field of prevention, the lack of effective prophylaxis following exposure (vaccine) and the poor implementation of postexposure prophylaxis (IPT), result in large number of children unnecessarily developing infection and disease. • Health care staff need to be motivated and educated on the importance of disease prevention, especially in preventing HIV infection. • Operational research should identify and rectify the obstacles, which currently prevent the effective implementation of IPT. • Resources should be directed toward the establishment of a system of effective contact tracing, accurate record-keeping of IPT recipients, early diagnosis of TB disease in children, and increased case holding. • Vaccine research is currently underway. Global vaccine initiatives, as well as local research and medical bodies, should be involved to ensure that progress continues rapidly, that trials are conducted among needy populations and that the latter benefit from new and effective vaccines through early subsidization of roll-out costs. • In the field of diagnostics, more rapid and sensitive diagnostic tests for pediatric TB need to be developed. Laboratory services, including infrastructure as well as technical expertise and regular quality control, are in urgent need of upgrading in most resource-limited areas. • Shorter treatment durations for specific disease manifestations should be investigated. Child-friendly, palatable drug formulations, particularly for the treatment of MDR TB, are

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also a priority and will positively impact on adherence. • The important role of infection control on an individual and systems level has been largely neglected and requires dedicated resources and commitment for implementation. • There needs to be better integration of health services caring for children in developing countries, particularly of perinatal and maternal services, well-baby clinics and services addressing HIV and TB. • The child living in a setting of high TB burden is vulnerable from before birth because of the very nature of the area into which she/he is born. No number of scientific advances will help this child if these are, first, implemented in isolation without addressing the numerous socioeconomic determinants of the disease, and, second, if they are not made accessible to the child. A comprehensive approach requires collaboration between international bodies and local governance to make resources available for the upliftment of poorer communities and to direct global funding equally to the development of novel diagnostic and therapeutic strategies, as to their delivery and implementation in these underresourced areas. Partnerships among the many sectors of government, in particular health, education, housing, water and sanitation, social development, and labor are necessary in order to achieve TB control, and perhaps even eradication. The involvement of civil society and organizations championing the rights of the child is paramount to ensuring that the numerous role players are accountable and continue to move toward the attainment of this common goal. In this chapter, we have used childhood TB as a marker of the special needs of children in low- and middle-income countries of the world. On analysis of the studies, it is clear that health care systems are failing children, that poverty is increasing in the poorest parts of the world, and that little effort is being directed to relieve the plight of children suffering as a result of these circumstances. Relieving this suffering requires a concerted effort from local, national, and international communities, to focus on childhood

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diseases, child-friendly diagnostics, and new therapeutics, in order to diagnose and treat diseases common in children living in low-income countries. These diseases will not be controlled if the socioeconomic conditions in which these children live are not concomitantly addressed.

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210 Martinson, N. A., Moultrie, H., van Niekerk, R., Barry, G., Coovadia, A., Cotton, M., Violari, A., Gray, G. E., Chaisson, R. E., McIntyre, J. A., & Meyers, T. (2009). HAART and risk of tuberculosis in HIV-infected South African children: A multi-site retrospective cohort. International Journal of Tuberculosis Lung Disease, 13(7), 862–867. Mashal, T., Nakamura, K., Kizuki, M., Seino, K., & Takano, T. (2007). Impact of conflict on infant immunisation coverage in Afghanistan: A countrywide study 2000–2003. International Journal of Health Geographics, 7(6), 23. McIlleron, H., Willemse, M., Werely, C. J., Hussey, G. D., Schaaf, H. S., Smith, P. J., & Donald, P. R. (2009). Isoniazid plasma concentrations in a cohort of South African children with tuberculosis: Implications for international pediatric dosing guidelines. Clinical Infectious Diseases, 48(11), 1547–1553. McKeown, T., & Record, R. G. (1962). Reasons for the decline of mortality in England and Wales during the nineteenth century. Population Studies, 16, 94–122. Ndirangu, J., Barnighausen, T., Tanser, F., Tint, K., & Newell, M.-L. (2009). Levels of childhood vaccination coverage and the impact of maternal HIV status on child vaccination status in rural KwaZulu-Natal, South Africa. Tropical Medicine & International Health, 14(11), 1383–93. Rispel, L. C., de Sousa, C. A., & Molomo, B. G. (2009). Can social inclusion policies reduce health inequalities in sub-Saharan Africa? A rapid policy appraisal. Journal of Health, Population and Nutrition, 27(4), 492–504. Russell S. (2004). The economic burden of illness for households in developing countries: A review of studies focusing on malaria, tuberculosis and human immunodeficiency virus/acquired immunodeficiency syndrome. The American Journal of Tropical Medicine and Hygiene, 71(2 Suppl.), 147–155. Ryder, R. W., Nsa, W., Hassig, S. E., Behets, F., Rayfield, M., Ekungola, B., Nelson, A. M., Mulenda, U., Francis, H., Mwandagalirwa, K., et al. (1989). Perinatal transmission of the human immunedeficiency type 1 infection to infants of seropositive women in Zaire. The New England Journal of Medicine, 320, 1637–1642. Schaaf, H. S., Krook, S., Hollemans, D. W., Warren, R. M., Donald, P. R., & Hesseling, A. C. (2005). Recurrent culture-confirmed tuberculosis in human immunodeficiency virus-infected children. The Pediatric Infectious Diseases Journal, 24, 685–691. Shapiro, R. L., Hughes, M. D., Ogwu, A., Kitch, D., Lockman, S., Moffat, C., Makhema, J., Moyo, S., Thior, I., McIntosh, K., van Widenfelt, E., Leidner, J., Powis, K., Asmelash, A., Tumbare, E., Zwerski, S., Sharma, U., Handelsman, E., Mburu, K., Jayeoba, O., Moko, E., Souda, S., Lubega, E., Akhtar, M., Wester, C., Tuomola, R., Snowden, W., Martinez-Tristani, M., Mazhani, L., & Essex, M. (2010). Antiretroviral Regimens in Pregnancy and Breastfeeding in Botswana. The New England Journal of Medicine, 362, 2282–2294.

E. Walters et al. Sonnenberg, P., Glynn, J. R., Fielding, K., Murray, J., Godfrey-Faussett, P., & Shearer, S. (2005). How soon after infection with HIV does the risk of tuberculosis start to increase? A retrospective cohort study in South African gold miners. The Journal of Infectious Diseases, 191, 150–158. Spence, D. P. S., Hotchkiss, J., Williams, C. S. D., & Davies, P. D. O. (1993). Tuberculosis and poverty. The British Medical Journal, 307(6907), 759–761. Starke, J. R. (2002). Childhood tuberculosis: Ending the neglect. International Journal of Tuberculosis Lung Disease, 6(5), 373–374. Swart, R., Sanders, D., & McLachlan, M. (2008). Nutrition: A primary health care perspective. In: P. Barron & J. Roma-Reardon (Eds.), South African health review 2008. Durban: Health Systems Trust. Swingler, G. H., du Toit, G., Andronikou, S., Van Der Merwe, L., & Zar, H. J. (2005). Diagnostic accuracy of chest radiography in detecting mediastinal lymphadenopathy in suspected pulmonary tuberculosis. Archives of Disease in Childhood, 90, 1153–1156. Tuller, D. M., Bangsberg, D. R., Senkungu, J., Ware, N. C., Emenyonu, N., & Weiser, S. D. (2009). Transportation costs impede sustained adherence and access to HAART in a clinic population in Southwestern Uganda: A qualitative study. AIDS and Behavior, 14(4), 778–784. Udani, P. M. (1990). Pediatric tuberculosis pyramid and its fate with and without chemotherapy/chemoprophylaxis. Indian Journal of Pediatric, 57(5), 627–637. Van Wyk, S. S., Hamade, H., Hesseling, A. C., Beyers, N., Enarson, D. A., & Mandalakas, A. M. (2010). Recording Isoniazid preventive therapy delivery to children: Operational challenges. International Journal of Tuberculosis Lung Disease, 14(5): 650–653. Van Zyl, S., Marais, B. J., Hesseling, A. C., Gie, R. P., Beyers, N., & Schaaf, H. S. (2006). Adherence to anti-tuberculosis chemoprophylaxis and treatment in children. International Journal of Tuberculosis Lung Disease, 10, 13–18. Vynnycky, E., & Fine, P. E. M. (2000). Lifetime risks, incubation period, and serial interval of tuberculosis. The American Journal of Epidemiology, 152, 247–263. Violary, A., Cotton, M. F., Gibb, D. M., Babiker, A. G., Steyn, J., Madhi, S. A., Paed, F. C., Jean-Philippe, P., McIntyre, J. A., & F. R. C. O. G. for the CHER Study Team. (2008). Early antiretroviral therapy and mortality among HIV-infected infants. The New England Journal of Medicine, 359, 2233–2244. Walters, E., Cotton, M. F., Rabie, H., Schaaf, H. S., Walters, L. O., & Marais, B. J. (2008). Clinical presentation and outcome of tuberculosis in human immunodeficiency virus infected children on antiretroviral therapy. BMC Pediatrics, 8, 1. Ware, N. C., Idoko, J., Kaaya, S., Biraro, I. A., Wyatt, M. A., Agbaji, O., Chalamilla, G., & Bangsberg, D. R. (2009). Explaining adherence success in sub-Saharan Africa: an ethnographic study. PLoS Medicine, 6(1), e11.

10 Tuberculosis: The Special Needs of Children Weiser, S. D., Fernandes, K. A., Brandson, E. K., Lima, V. D., Anema, A., Bangsberg, D. R., Montaner, J. S., & Hogg, R. S. (2009). The association between food insecurity and mortality among HIV-infected individuals on HAART. Journal of Acquired Immune Deficiency Syndromes, 52(3), 342–349. Whittaker, E., & Kampmann, B. (2008). Perinatal tuberculosis: New challenges in the diagnosis and treatment of tuberculosis in infants and the newborn. Early Human Development, 84, 795–799. Wood, R., Johnstone-Robertson, S., Uys, P., Hargrove, J., Middelkoop, K., Lawn, S. D., & Bekker, L.-G. (2010). Tuberculosis transmission to young children in a South African community: Modeling household and community infection risks. Clinical Infectious Diseases, 51(4), 401–408. World Health Organization (WHO). (1999a). Preventive therapy against tuberculosis in people living with HIV. Weekly Epidemiological Record, 74, 385–398. World Health Organization (WHO). (1999b). Guidelines for the prevention of tuberculosis in health care facilities in resource limited settings. Geneva: World Health Organization (WHO/TB/99.269). World Health Organization (WHO). (2006). Guidance for national tuberculosis programmes on the management of tuberculosis in children. Geneva: World Health Organization. World Health Organization (WHO). (2007). Revised BCG vaccination guidelines for infants at risk for HIV infection. Weekly Epidemiological Record, 82, 193–196.

211 World Health Organization (WHO). (2008). Closing the gap in a generation: Health equity through action on the social determinants of health. Report of the commission on social determinants of health. Geneva: World Health Organization. World Health Organization (Epidemiology). (2009). Global tuberculosis control 2009, epidemiology, strategy, financing. Geneva: World Health Organization. World Health Organization (WHO). (2010a). Global tuberculosis control: A short update to the 2009 report. http://www.who.int/tb/publications/global_ report/2009/update/en/index.html. Accessed 20 Oct. 2010. World Health Organization (WHO). (2010b). The global plan to stop TB 2011–2015. Geneva: World Health Organization and StopTB Partnership. Zar, H. J. (2004). Pneumonia in HIV-infected and HIVuninfected children in developing countries: Epidemiology, clinical features, and management. Current Opinion in Pulmonary Medicine, 10(3), 176–183. Zar, H. J., Hanslo, D., Apolles, P., Swingler, G., & Hussey, G. (2005). Induced sputum versus gastric aspirate lavage for the microbiological confirmation of pulmonary tuberculosis in infants and young children: A prospective study. Lancet, 365, 130–134. Zar, H. J., Cotton, M. F., Strauss, S., Karpakis, J., Hussey, G., Schaaf, H. S., Rabie, H., & Lombard, C. J. (2007). Effect of isoniazid prophylaxis on mortality and incidence of tuberculosis in children with HIV: Randomised controlled trial. The British Medical Journal, 334(7585), 136.

Children with Multiple Sclerosis

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Yann Mikaeloff

Abstract

Multiple sclerosis (MS) is a chronic inflammatory demyelinating syndrome of the central nervous system (CNS). MS is a rare disease compared to the classic adult-onset MS. There have recently been improvements in the understanding of pediatric CNS demyelination, including pathogenesis, epidemiology, magnetic resonance imaging, laboratory features, and treatment. This chapter reviews the current understanding of these, including epidemiology and special health care needs in childhood MS. Early assessment of factors that predict successful health outcomes and social inclusion of children with MS could guide supporting interventions such as social assistance, coaching, and psychological counseling, thus improving their community participation later on. Abbreviations

ADEM Acute disseminated encephalomyelitis CIS Clinically isolated syndrome CNS Central nervous system CSF Cerebrospinal fluid EBV Epstein Barr Virus EDSS Expanded disability status scale HB Hepatitis B HLA Human leukocyte antigen HRQ Health-related quality IFN Interferon IgG Immunoglobulin G MBP Myelin basic protein MOG Myelin oligodendrocyte glycoprotein Y. Mikaeloff () Service de Neurologie Pediatrique, CHU Bicêtre, Assistance Publique-Hopitaux de Paris, Hopital Bicêtre, 78 avenue du Général Leclerc, 94275 Le KremlinBicêtre Cedex, France e-mail: [email protected] Université Paris Sud 11, Paris, France D. Hollar (ed.), Handbook of Children with Special Health Care Needs, DOI 10.1007/978-1-4614-2335-5_11, © Springer Science+Business Media New York 2012

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MRI Magnetic resonance imaging MTR Magnetization transfer imaging MS Multiple sclerosis NMO Neuromyelitis optica OCB Oligoclonal bands RRMS Relapsing/remitting multiple sclerosis SD Standard deviation

11.1 Introduction Multiple sclerosis (MS) is a chronic inflammatory demyelinating syndrome of the central nervous system (CNS). MS is a rare disease compared to the classic adult-onset MS. There have recently been improvements in the understanding of pediatric CNS demyelination, including pathogenesis, epidemiology, magnetic resonance imaging (MRI), laboratory features, and treatment. This chapter reviews the current understanding of these, including epidemiology and special health care needs in childhood MS.

11.1.1 Demographic Features It is estimated that 3–10% of all MS patients will have an onset before the age of 18 years (Banwell et al. 2007b; Yeh et al. 2009). Childhood MS has been reported in many countries with regional differences in frequency (Marrie 2004). In most cases, the disease is common in temperate areas and rare in tropical areas. The areas of high prevalence in adult MS (> 30 cases per 100,000) include North America, northern Europe, southern Australia, and New Zealand. The areas of medium-prevalence (5–30 cases per 100,000) include southern Europe, southern America, and northern Australia. The areas of low-prevalence (< 5 cases per 100,000) include Asia, Africa, and South America. The regional differences in prevalence may have been incorrectly estimated in some areas due to varied diagnostic criteria and methodological differences in measurement (Marrie 2004; Mikaeloff et al. 2010b, p. 48). According to migration studies of adult-onset MS,

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emigration during childhood of people from areas with low risk of MS to areas with high risk exposes them to the risk of MS associated with the region to which they relocate (Dean and Elian 1997). Considering analysis of the age at migration, different authors suggest that the risk of disease is mostly established during the first 20 years of life (Marrie 2004). A recent study evaluates the incidence of acquired demyelination of the CNS in Canadian children within the period 2004–2007 (Banwell et al. 2009). Two hundred nineteen children with acquired demyelination of the CNS were reported. The most common presentations were optic neuritis (23%), acute disseminated encephalomyelitis (ADEM, 22%), and transverse myelitis (22%). Children with ADEM were more likely to be younger than 10 years of age, whereas children with monolesional-acquired demyelination of the CNS were more likely to be older than 10 years of age ( p < 0.001). There were 73 incident cases per year, leading to an annual incidence of 0.9 per 100,000 Canadian children. The sex ratio in pediatric MS depends on the onset age with no clear sex predisposition in patients under 6 years of age (Banwell et al. 2007a; Yeh et al. 2009). Conversely, presentation of the disease in the second decade of life shows a predominantly female predisposition. It remains unclear whether this preponderance is related to a hormonal effect or to a genetic influence connected with gender-determining factors.

11.1.2 Definitions and Clinical Features at Onset An international consensus group has recently proposed more specific definitions for MS and related disorders in childhood, adapted from those used in adult patients (Krupp et al. 2007; McDonald et al. 2001). It has to be taken into account that MRI has also contributed to improve recognition of MS diagnoses in children. In this classification (Krupp et al. 2007): • Pediatric MS requires at least two discrete episodes of CNS demyelination separated in time and space, as described in adults. The events

11 Children with Multiple Sclerosis

should not include encephalopathy and should be separated in time by four or more weeks. • A first event of MS is typically a clinically isolated syndrome (CIS). If a child with an initial diagnosis of ADEM has subsequent relapses of non-ADEM (i.e., demyelination without encephalopathy), then two non-ADEM relapse events are required (i.e., total three events) before a diagnosis of MS is made. • MRI can be used to satisfy criteria for dissemination in time following the initial event in children > 10 years old, even in the absence of a new clinical event. The new T2 lesions must develop 3 months or longer after the initial clinical event (McDonald et al. 2001). These criteria state that a first event associated with encephalopathy (altered consciousness or change in behavior) should be defined as ADEM, which cannot constitute a first episode of MS (Krupp et al. 2007). This last statement was debated by other authors (Mikaeloff et al. 2006). In contrast, a first episode of demyelination, which is not associated with encephalopathy, is termed a CIS. A CIS can take any one of the following monofocal (isolated) forms: optic neuritis, transverse myelitis, brainstem syndrome (the only CIS that can be associated with altered consciousness), cerebellar syndrome, hemispheric syndrome (hemiplegia or hemisensory syndrome), or a multifocal syndrome (multiple signs not including encephalopathy). A review of the clinical presentation at a first episode for 1,540 children with MS from literature included cases from cohorts using varying definitions (Banwell et al. 2007b). Approximately 30–50% of those children had monofocal presentations as listed above and 50–70% of children had multifocal syndromes (“polyfocal” or “multisymptomatic”) during a first episode. Motor dysfunction was present in 30% of all the patients, while 15–30% showed sensory symptoms, 10–22% optic neuritis, 5–15% ataxia, 25% brainstem syndromes, with monofocal transverse myelitis concerning less than 10% of the children (Banwell et al. 2007a). Nonspecific symptoms such as fatigue are common (40%) and seizures occur only in 5% of the patients. Seizures are more common in ADEM (Tenembaum et al.

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2002; Mikaeloff et al. 2007a). A “mutisymptomatic” episode with encephalopathy (altered consciousness) concerns 15% of the MS patients at onset, if we disregard the previous classification (Mikaeloff et al. 2006). Among children aged less than 10 years, MS has varying characteristics at onset. The most common one seems to be ataxia at around 50%, along with fever or encephalopathy (Banwell et al. 2007b). Although encephalopathy is seen as more consistent with monophasic ADEM, young children with relapsing MS can exhibit encephalopathy with other symptoms (52% for children under 6 years of age at onset, 22% for children 6–9 years of age, as compared to 6–7% for older children; Mikaeloff et al. 2006). It is suspected that the International criteria may need to be completed to allow for this specificity.

11.1.3 Risk of Relapse After a First Episode of CNS Demyelination The French national cohort of 296 children included all children presenting a first episode of CNS demyelination, e.g., possible MS, ADEM, transverse myelitis, inflammatory optic neuritis, or brainstem dysfunction (Mikaeloff et al. 2004a, b). Previous cohort studies based only on recruitment of MS diagnosis resulted in selection bias (Boiko et al. 2002a; Simone et al. 2002). The French national cohort was the first to include all first episodes of acute CNS inflammatory demyelination in childhood, which might lead to chronic relapsing MS disease (Mikaeloff et al. 2004a). The cohort was subjected to multivariate survival analysis to take into account differences in the duration of follow-up between patients (Cox 1972). Among these patients, the risk of a second attack qualifying for an MS diagnosis was 57 % after a mean observation period of 2.9 years. This study suggested that MS was more common among first episodes of acute CNS inflammatory demyelination in childhood than was previously suspected. In a prospective study of 36 Canadian children with optic neuritis, 36% were diagnosed with MS after a mean observation period of 2.4 years

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(Wilejto et al. 2006). In retrospective series, the risk of MS after childhood optic neuritis has been reported to be 15–40% (Kriss et al. 1988; Riikonen et al. 1988). A second attack, leading to MS diagnosis, may occur many years after childhood optic neuritis; in a longitudinal study, MS was diagnosed in 13% of patients within 10 years of the initial childhood optic neuritis event and in 23% of patients within 23 years (Lucchinetti et al. 1997). Isolated transverse myelitis was the first demyelinating event in only 13 (8%) of the 168 children diagnosed with MS described in the French national cohort (Mikaeloff et al. 2004a).

11.2 Clinical Course In MS different courses are described: • The relapsing remitting course is the most common and is characterized by episodic relapses with intervening remissions. • The primary progressive course is rarer. It concerns mostly adult patients with a progressive worsening of disability since the onset of the disease. • The secondary progressive course is another possibility. After a variable period of a relapsing remitting course, patients can enter a secondary progressive course with a progressive worsening of disability. A recent review of childhood MS with onset before 16 years of age reported that 96% of 1,540 children were initially diagnosed with a relapsing-remitting course, with only 57 (3.7%) children being initially diagnosed with a primary progressive course (Banwell et al. 2007b). Of these 1,540 children, 263 (17%) were less than 10 years old at the time of their first attack. In the French national cohort of 197 MS patients, the median age at disease onset was 11.9 years. The median time between the first event and the second episode was 7.8 months (range: 1–111 months; mean ± standard deviation (SD): 15.5 ± 20.5 months; Mikaeloff et al. 2006). Younger children (< 10 years of age) have a longer interval from first to second attack (median time: 10–12 months, range: 1–110), in contrast to older children (≥ 10 years; median time: 6–8

Y. Mikaeloff

months, range: 1–90). The analysis of the occurrence of the MS-defining first relapse shows that 50% of first relapses occur during the first 8 months of follow-up and 80% within the first 2 years of follow-up (Mikaeloff et al. 2006).

11.3 Investigation Features 11.3.1 Cerebrospinal Fluid Cerebrospinal fluid (CSF) analysis plays a role in the exclusion of acute infection and malignancy. CSF white cell count in children during a first attack of MS is over 10 leukocytes/mm3 in approximately 40% of patients (Mikaeloff et al. 2004a). Cell counts of up to 60 leukocytes/mm3 were found in approximately 8% of children in another study (Pohl et al. 2004). Oligoclonal bands (OCB) are detected in the CSF of 50–90% of children with MS (Pohl et al. 2004; Mikaeloff et al. 2006). Oligoclonal bands are less frequently detected in cerebrospinal fluid from younger (< 10-year old) patients than in older (> 10-year old) patients (27 vs. 52%; Mikaeloff et al. 2006). CSF OCB may develop during the course of the disease in children initially not having OCB (Pohl et al. 2004). Moreover, a recent study shows that age modifies the CSF profile at pediatric MS onset, i.e., lower proportion of lymphocytes, higher proportion of neutrophils, and a lower frequency of elevated immunoglobulin G (IgG) index before 11 years of age at onset, which may mislead the diagnosis (Chabas et al. 2010).

11.3.2 Serologies There are neither specific nor sensitive blood markers of MS in children. Serum autoantibodies for neuromyelitis optica IgG (antigen aquaporin-4) should be tested if there is a clinical suspicion of neuromyelitis optica (optic neuritis and transverse myelitis), as a different approach in treatment may be required (Lennon et al. 2005; Banwell et al. 2008). The clinical phenotype associated with autoimmunity against aqua-


porin-4 has broadened to include isolated optic neuritis, isolated transverse myelitis, and other cerebral symptoms (encephalopathy, ataxia, and seizures); however, this is not the case in MS (McKeon et al. 2008).

11.3.3 Magnetic Resonance Imaging MRI plays a role in evaluating the dissemination of CNS lesions consistent with the diagnosis of inflammatory demyelination and may be used to predict the course of the disease. Diagnostic criteria for MS in adults include MRI evidence of disease dissemination within the CNS over time (McDonald et al. 2001; Polman et al. 2005). However, adult MRI criteria have a sensitivity of only 52–54% when applied to MRI images obtained from children during their first MS attack (Mikaeloff et al. 2004b; Hahn et al. 2004). These adult MRI criteria also only have a sensitivity of 67% when applied to MRI images obtained at the second MS-defining event in children (Hahn et al. 2004). Sensitivity is particularly low (37%) if MRI criteria are applied to images obtained at the time of the first MS attack in children with an age at onset under 10 years (Mikaeloff et al. 2004b). In the French cohort of ADEM (demyelination plus encephalopathy), 66 out of all 132 patients (50%) fulfilled the Barkhof adult MS criteria (Mikaeloff et al. 2007a). These reports suggested adult MS MRI criteria performed poorly in pediatric MS and in differentiation of pediatric MS from ADEM. Several further studies in both children and adults have shown that MRI is not sufficient to distinguish ADEM from MS (Tenembaum et al. 2002). The MRI criteria for monophasic ADEM have been defined as large numbers of fuzzy, poorly defined lesions associated with the thalamus, and/or basal ganglial lesions (Hynson et al. 2001). However, relapses occur within 2 years in 10–30% of patients initially diagnosed with ADEM (Dale et al. 2000; Hynson et al. 2001; Tenembaum et al. 2002; Mikaeloff et al. 2004a). Moreover, in the French cohort, thalamus and basal ganglia lesions were equally frequent in

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both monophasic (ADEM) and recurrent diseases (i.e., MS; Mikaeloff et al. 2004b). In view of these difficulties, the French national cohort study used a standardized method in a cohort of 116 children undergoing imaging at the time of the first episode of acute CNS inflammatory demyelination to delineate MRI features predictive of MS occurrence (Mikaeloff et al. 2004b). After a mean follow-up of 4.9 years, 45% of the children experienced a second attack and were diagnosed with MS. Based on multivariate survival analysis, MRI features during the first event that were predictive of progression to MS included: (1) lesions perpendicular to the long axis of the corpus callosum and (2) the presence of only well-defined lesions (childhood MS MRI criteria). The presence of both these features was 100% specific for an MS outcome, although its sensitivity was only 21%. The presence of only one of these criteria (in 55% of patients) increased sensitivity to 79% but decreased specificity to only 63%. This study also demonstrated that the presence of these childhood MS MRI features during the first attack was predictive of a third attack or severe disability (Mikaeloff et al. 2004b, 2006). A retrospective analysis of MRI from 38 children with clinically defined MS and 45 children with nondemyelinating diseases with relapsing neurological deficits (migraine, systemic lupus erythematosus) was performed in a recent study (Callen et al. 2009). For each scan, T2/ FLAIR hyperintense lesions were quantified and categorized according to location and size. Mean lesion counts in specific locations were compared between groups to derive diagnostic criteria. Validation of the proposed criteria was performed using MRI scans from a second MS group ( n = 21). MRI lesion location and size categories differed between children with MS and nondemyelinating controls with a medium-tolarge effect size for most variables. The presence of at least two of the following: (1) five or more lesions, (2) two or more periventricular lesions, and (3) one brainstem lesion-distinguished MS from other nondemyelinating disease controls with 85% sensitivity and 98% specificity.

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Another retrospective analysis of MRI obtained at a first attack from 28 children subsequently diagnosed with MS and 20 children with ADEM was performed with the aim to make a better distinction between MS and monophasic ADEM (Ketelslegers et al. 2010b). T2/fluidattenuated inversion recovery hyperintense lesions were quantified and categorized according to location, description, and size. T1-weighted images before and after administration of gadolinium were evaluated for the presence of black holes and for gadolinium enhancement. Mean lesion counts and qualitative features were compared between groups and analyzed to create a proposed diagnostic model. The total lesion number did not differentiate ADEM from MS, but periventricular lesions were more frequent in children with MS. Combined quantitative and qualitative analyses led to the following criteria to distinguish MS from ADEM, any two of: (1) absence of a diffuse bilateral lesion pattern, (2) presence of black holes, and (3) presence of two or more periventricular lesions. Using these criteria, MS patients at first attack could be distinguished from monophasic ADEM patients with an 81% sensitivity and a 95% specificity. MRI can also be used to explore tissue integrity (magnetization transfer imaging, MTR; diffusion tensor imaging) and tissue biochemistry (MR spectroscopy; Banwell et al. 2007b; Yeh et al. 2009).

11.4 Pathogenesis and Environmental Risk Factors 11.4.1 Genetic Studies MS is a multifactorial disease caused by several environmental factors in a genetically susceptible individual (Dyment et al. 2004). A family history of MS is reported in 6–8% of pediatric MS patients (Mikaeloff et al. 2006; Banwell et al. 2007b). Members of the families of affected individuals have a greater risk of disease than the general population. Half siblings of affected individuals have about half the risk of full siblings of developing MS, while adopted siblings

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have no greater risk than the general population. These findings indicate that genetic factors do contribute to an individual’s risk of MS. Concordance levels are higher for monozygotic (~ 30%) than for dizygotic twins (~ 5%), but remain well below 100%, indicating that genetics alone cannot account for the development of this disease (Sadovnick et al. 1993). Genetic studies of the myelin oligodendrocyte glycoprotein (MOG) gene, located very close to the human leukocyte antigen (HLA) region on chromosome six in children identified no disease-specific associations in a study of 75 German children with MS (Ohlenbusch et al. 2002). The frequency of HLA-DR2 was reported to be high in a study of 47 children with MS from Russia, and in genetic studies of adults with MS (Boiko al. 2002b; Dyment et al. 2004).

11.4.2 Immunology MS is thought to be a cell-mediated autoimmune disease of the CNS (Yeh et al. 2009). The available evidence supporting this concept of autoimmunity includes: (1) patients are predominantly female, similar to autoimmune disorders such as rheumatoid arthritis and systemic lupus erythematosus; (2) transient attenuation of disease activity occurs during pregnancy (a state of relative immunosuppression; Confavreux et al. 1998); (3) association with other autoimmune diseases in both affected individuals and members of their families; (4) association with HLA type (Dyment et al. 2004); (5) similarity to experimental autoimmune encephalomyelitis, an autoimmune animal model of MS; and (6) presence of autoantibodies against myelin antigens in serum and CSF. Myelin proteins such as myelin basic protein (MBP) and myelin oligodendrocyte glycoprotein (MOG) are proposed autoantigen targets in MS. Autoantibodies against MOG in its native tetramer state are found in pediatric demyelination, principally in ADEM patients. A recent study showed that serum levels of anti-MBP antibodies correlated significantly with their CSF levels and their presence in children with MS was associat-


ed with significantly increased risk of an ADEMlike initial clinical presentation (O’Connor et al. 2010). Another recent study showed that the prevalence of anti-MOG autoantibodies was highest among patients with an early onset of MS: 38.7% of patients aged less than 10 years disease onset had anti-MOG autoantibodies, compared with 14.7 % of patients in the 10–18 year age group. B cell autoimmunity to this myelin surface antigen is therefore most common in patients with a very early onset of MS (McLaughlin et al. 2009).

11.4.3 Vitamin D Status Vitamin D insufficiency, which appears to be a risk factor for several systemic autoimmune diseases, such as systemic lupus erythematosus and type I diabetes, has likewise emerged as a risk factor for susceptibility to MS (Munger et al. 2006). Moreover, lower serum 25-hydroxyvitamin D3 levels are associated with a substantially increased subsequent relapse rate in pediatriconset MS or CIS (Mowry et al. 2010).

11.4.4 Infections No observational study has ever identified an infectious agent as a causal factor for MS. However, any one of several agents might produce the same result in the appropriate circumstances (such as critical time of exposure to infection in a genetically susceptible host; Marrie 2004; Banwell et al. 2007a; Yeh et al. 2009). Conflicting data have been obtained concerning the importance of age at infection for specific infectious diseases. Serological evidence of previous infection with Epstein Barr Virus (EBV) has been documented in over 85% of children with MS. This frequency is significantly different from the seroprevalence of 40–60% reported for age-matched healthy children (Alotaibi et al. 2004; Pohl et al. 2006; Banwell et al. 2007a). A multinational study included 137 children with MS and 96 control participants matched by age and geographical region. They underwent clinical examinations

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and assays for IgG antibodies directed against the Epstein Barr virus, the cytomegalovirus, parvovirus B19, the varicella zoster virus, and the herpes simplex virus. MS was relapsing-remitting at diagnosis in 136 (99%) children. The first MS attack resembled ADEM in 22 (16%) of the children, most under the age of 10 years (mean age 7.4 (SD 4.2) years). Over 108 (86%) of the children with MS, irrespective of geographical residence, were seropositive for remote EBV infection, compared with only 61 (64%) of matched controls ( p = 0.025, adjusted for multiple comparisons). Children with MS did not differ from controls in seroprevalence compared to the other childhood viruses studied, nor with respect to month of birth, number of siblings, sibling rank, or exposure to younger siblings. The authors concluded that MS in children might be associated with exposure to EBV, suggesting a possible role for EBV in MS pathobiology. Four case-control studies and two cohort studies found that MS risk was higher in individuals with a history of infectious mononucleosis (EBV), whereas no such increase in risk was found in several other case-control studies (Ascherio et al. 2001; Marrie 2004). Multiple ongoing research studies support a possible role for EBV in MS immunology and pathology (Serafini et al. 2007). Measles, mumps, rubella, and chicken pox are common childhood infections and all have been considered as potential causal agents of MS. A case-control study by the Italian MS Study Group found that MS patients were more likely to report at least one childhood illness (including measles, mumps, chicken pox, rubella) after the age of 6 years (odds ratio 1.52; 95% CI 1.05–2.20; Marrie 2004). However, several case-control studies found no evidence to suggest that measles infections occur more frequently among MS patients (reviewed in Marrie 2004). Similar negative results were reported for the possible association between rubella and MS. Studies of mumps and chicken pox have also consistently shown no association between the frequency of these infections and MS. In recent studies, serological measurements of exposure to several other common

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childhood infectious agents, including parvovirus B19, the herpes simplex virus and CMV did not differ between children with MS and agematched controls (Alotaibi et al. 2004). In one study, 28% of 25 children with MS were shown to harbor intrathecal antibodies against Chlamydia pneumoniae but this was interpreted as reflecting a polyspecific immune response, rather than a disease-related association (Rostasy et al. 2003). Moreover, only weak evidence of an association between MS and Chlamydia pneumoniae has been obtained in epidemiological studies in adults (Marrie 2004). The KIDSEP study group conducted a population-based case-control study to investigate whether clinically observed chickenpox, linked with a level of intensity for clinical expression, increases the risk of MS in childhood (Mikaeloff et al. 2009). The cases were those of MS patients whose disease onset occurred between 1994 and 2003, before 16 years of age, in France. Each case was matched for age, sex, and geographic origin with as many as 12 controls randomly selected from the general population. Information about clinically observed chickenpox in cases and controls before the index date regarding onset of MS was collected with a standardized questionnaire and was checked against health certificates. Conditional logistic regression was used to estimate the odds ratio for an association between MS and chickenpox. The 137 MS cases were matched with 1,061 controls. Clinically observed chickenpox had occurred in 76.6% of the cases and 84.9% of their matched controls. The adjusted odds ratio of MS onset associated with chickenpox occurrence was 0.58 (95% confidence interval (CI): 0.36, 0.92). The authors concluded that clinically observed chickenpox was associated with a lower risk of childhood-onset MS in the French population. Serological assessments of past contact with infectious agents often fail to take into account the chronology of events (MS may have occurred before the infection), the severity of the infection, and the characteristics of the associated immune response. These limitations must be taken into account.

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11.4.5 Vaccinations Several studies have evaluated the possibility of an association between the recombinant hepatitis B (HB) vaccine and an increase in incident MS in adults. Most studies found no significant increase in the risk of incident MS, in the short (mostly within 2 months) or long (> 1 year to any time exposure) term after immunization, in cohort or case-control designs (Mikaeloff et al. 2007c). However, Hernán et al. (2004) reported a significant increase in the risk of MS within 3 years of vaccination, suggesting that prolonged risk periods should be evaluated (Hernán et al. 2004). A study in children investigated whether the HB vaccination after a first episode of acute childhood CNS inflammatory demyelination increased the risk of conversion to MS (Mikaeloff et al. 2007b). A Cox proportional hazards model of time-dependent vaccine exposure during follow-up was used to evaluate the effect of vaccination (HB, tetanus) during follow-up on the risk of a second episode occurrence (conversion to MS). The study concluded that vaccination against HB after a first episode of CNS inflammatory demyelination in childhood does not appear to increase the risk of conversion to MS. A further study investigated the possibility of a link between the HB vaccine and incident MS in children, using evaluations of prolonged risk periods in a population-based, case-control study (Mikaeloff et al. 2007c). The 143 cases of pediatric MS were matched to 1,122 controls, on the basis of age, sex, and geographical origin. The rate of HB vaccination in the 3 years before the index date was 32% for both cases and controls. The study concluded that HB vaccination did not appear to increase the risk of a first episode of MS in childhood. Similarly, no difference was found between children with MS and controls in terms of serological responses to other vaccinerelated agents (measles, mumps, rubella, or pertussis; Bager et al. 2004). Further investigations concerning the risk of all first episodes of acute CNS inflammatory demyelination in childhood are underway.


11.4.6 Passive Smoking The possibility of a link between active smoking and incident MS has been reported in adults (Hernán et al. 2001; Riise et al. 2003). A population-based, case-control study addressed this association in children (Mikaeloff et al. 2007d). The 129 cases of pediatric MS were matched with 1,038 controls. Exposure to parental smoking was noted in 62.0% of cases and 45.1% of controls. The adjusted RR of a first episode of MS associated with exposure to parental smoking at home was 2.12 (95% CI: 1.43–3.15). Stratification for age showed that this increase in risk was significantly associated with the longer duration of exposure in older cases (over 10 years of age at the time of the index episode)—RR 2.49 (1.53–4.08)—as opposed to the shorter duration of exposure in younger cases. Children exposed to parental smoking therefore have a higher risk of MS, this risk being affected by the duration of exposure.

11.4.7 Treatment The diagnosis of a chronic relapsing illness, with unpredictable events, may have psychological consequences and care must be taken to ensure optimal management. A good relationship between the medical team, the patient, and the parents is important to obtain compliance with medication. No large randomized controlled trial has ever been carried out for childhood MS. Most treatment decisions are based on the results of adult MS studies (Banwell et al. 2007a; Yeh et al. 2009).

11.4.7.1 Treatment of Attacks Attacks in children are treated with corticosteroids (Banwell et al. 2007a; Yeh et al. 2009). No specific studies have addressed the issues of the most appropriate dose or the efficacy of these drugs. However, most treatment regimens for severe demyelination are based on the intravenous infusion of 10–30 mg/kg/dose (up to 1,000 mg/ dose) of methylprednisolone for 3–5 days. Decisions concerning the use of oral prednisone after

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intravenous infusions, the starting dose (typically 1–2 mg/kg/day) and the specific tapering schedule are empiric. Mild attacks that do not limit school attendance or other activities do not require corticosteroid therapy. If no response to an initial course of corticosteroids is obtained, a second course of 3–5 days of intravenous treatment (doses as specified above) may be effective. Efficacy of treatment with intravenous immunoglobulin is debated (Pohl 2008).

11.4.7.2 Immunomodulatory Therapies Interferon-beta (IFN-β) is the most frequently used disease-modifying treatment in adult-onset relapsing-remitting MS. Current recommendations are to initiate treatment early in the course of the disease, aiming to reduce disability and cerebral atrophy. Pediatric MS case series have shown that IFN-β is well tolerated in the short term (Mikaeloff et al. 2001; Pohl et al. 2005; Ghezzi et al. 2005a; Ghezzi and ITEMS (Immunomodulatory Treatment of Early Onset MS) Group 2005b; Tenembaum and Segura 2006; Banwell et al. 2006). Acetaminophen (paracetamol) or ibuprofen can be used to treat flu-like symptoms. Other IFN-β side effects described in children include depression, generalized edema, and elevated liver enzymes (Banwell et al. 2007a). Studies assessing the efficacy of IFN-β for reducing the relapse rate were subject to methodological limitations concerning comparisons of pre- and post-IFN-β treatment periods (Ghezzi et al. 2005a, 2009; Ghezzi and ITEMS Group 2005b; Pohl et al. 2005; Tenembaum and Segura 2006; Banwell et al. 2006). For example, a recent Italian study evaluated in a different way the effect of two immunomodulatory agents (Interferon-Beta, Glatiramer Acetate) in a cohort of pediatric MS patients with disease onset in childhood or adolescence, treated before 16 years of age, after a long-term follow-up. A total of 130 patients were identified, 77 were treated with Avonex, 39 with Rebif/Betaferon, and 14 with Copaxone. After a mean (SD) treatment duration of 53.6 ± 27.0, 59.9 ± 39.5, and 74.6 ± 35.5 months, respectively, the relapse rate decreased significantly. The final expanded disability status scale

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(EDSS) score was unchanged with respect to the initial score. Similar results were also observed in subjects who continued a long-term followup after they were included in an observational study in 2004, as well as in subjects treated before 12 years of age. The frequency of clinical and laboratory adverse events was similar to that observed in adult patients. From a methodological point of view, these study designs did not take into account the decreasing probability of relapse over time, which may have biased findings towards IFN-β efficacy (Noseworthy et al. 2000; Mikaeloff et al. 2004a). Indeed, simple comparisons between pre- and post-treatment periods and the initiation of treatments later on in the course of the disease (mean onset between 20 and 40.3 months) may have biased the results in favor of IFN-β efficacy. Only one single-center study of 16 children, randomized to IFNB-1a (Avonex) at a low dose (15 µg weekly) or placebo, can more confidently claim a beneficial effect of treatment on relapse rate, disability progression, and the accumulation of T2 lesions (Kappos et al. 2006). In the absence of large randomized controlled trials (as performed in adult MS), comparative observational cohort studies based on the real practice of physicians are useful tools for evaluating the efficacy of drugs (Strom 2005). An observational study assessed the efficacy of IFN-β for preventing the subsequent attack and the presence of severe disability in a pediatric MS cohort (Mikaeloff et al. 2008). The study included a cohort of 197 relapsing/remitting multiple sclerosis (RRMS) patients (1990–2005) followed from their MS diagnosis until their next attack or until the occurrence of severe disability (EDSS score of ≥ 4). During cohort follow-up (mean 5.5 years), 70.5 % of the 197 children had a first relapse (80 % of these within the first 2 years) and 24 started IFN-β treatment (after a mean of 3.6 months; mean duration 17.1 months). The use of IFN-β was associated with a significantly lower frequency of attacks during the first year of treatment (hazard ratio: 0.31, 95% CI: 0.13–0.72) and during the first 2 years of treatment (0.40, 0.20–0.83). The effect of the treatment was less significant if the entire follow-up period of

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4 years was considered (0.57, 0.30–1.10). IFN-β seemed to reduce the occurrence of severe disability, although this effect was not statistically significant (HR 0.78; 95% CI: 0.25–2.42). The conclusion was that the use of IFN-β after the diagnosis of MS reduces the risk of relapse during the first 2 years. Current recommendations are that after a first relapse, IFN-β treatment may be considered, as in adult patients. The use of IFN-β in children is acceptable, although little specific information is available concerning its long-term effects or the induction of specific immune reactions, including the production of neutralizing antibodies (Noronha 2007). Glatiramer acetate is an alternative immunomodulatory therapy to interferon-beta and may be beneficial in pediatric MS (Kornek et al. 2003). Comparative studies between these agents have not been performed in children. No studies have been published concerning the safety, efficacy, or selection of drugs for children with severe RRMS refractory to IFN-β or glatiramer acetate. Case reports have described the administration of azathioprine, mitoxantrone, cyclophosphamide, or methotrexate. A retrospective multicenter chart review of 17 children with MS treated with cyclophosphamide was performed in North America (Makhani et al. 2009). All but one had worsening of EDSS scores or multiple relapses prior to treatment initiation. Children were treated with one of three regimens: (1) induction therapy alone, (2) induction therapy with pulse maintenance, or (3) pulse maintenance alone. Treatment resulted in a reduction in relapse rate and stabilization of disability scores assessed 1 year after treatment initiation in the majority of patients. Longer follow-up was available for most of the cases. Cyclophosphamide was well tolerated in most patients. However, side effects included vomiting, transient alopecia, osteoporosis, and amenorrhea. One patient developed bladder carcinoma that was successfully treated. The authors concluded that cyclophosphamide is an option for the treatment of children with aggressive MS refractory to first-line therapies.

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A German study determined the safety, effectiveness, and tolerability of natalizumab (a monoclonal antibody against alpha-4 integrin) use in three pediatric patients with RRMS having a poor response to other immunomodulatory therapies or having intolerable adverse effects (Huppke et al. 2008). Natalizumab was given every 4 weeks at a dosage of 3–5 mg/kg of body weight. During 24, 16, and 15 months of treatment, no further relapses occurred in the three pediatric patients and all reported significant improvement in their quality of life. Follow-up MR imaging showed no new T2-weighted or gadolinium-enhancing lesions. No adverse events were seen when the dosage was adjusted to the body weight. The authors concluded that Natalizumab treatment was effective and well-tolerated in our pediatric patients with RRMS who did not respond to initial immunomodulatory treatments.

11.4.8 Compliance to Treatment Studies based on adult MS patients have reported compliance rates of 30–80% (Treadaway et al. 2009). Data specific to pediatric MS patients are scarce. In North America, major causes for noncompliance in adult MS patients included forgetting or refusal to administer medication, side effects, difficulties with self-injection, cost of treatment, cognitive impairment, depression, negative impact on quality of life, unrealistic expectations of the treatment’s efficacy, treatment fatigue, loss of confidence in the therapeutic efficacy during relapse, and use of more than one disease-modifying therapy (Clerico et al. 2007; Cohen and Rieckmann 2007; Treadaway et al. 2009). Factors associated with higher rates of compliance in adult MS patients included older age at disease onset, disease duration less than 3 years, and increased hope. In a recent mixed-methods study in Canada, utilization data for disease-modifying therapies were reviewed to determine the adherence rate among a pediatric MS series (Thannhauser et al. 2009). Adolescents were interviewed to explore their experiences with MS and the impact of peer relationships on adherence to treatment. Seven-

teen adolescents (6 male, 11 female) started interferon beta or glatiramer acetate before the age of 18 years. The mean age at first drug start date was 15.8 years. Eight of the adolescents (47%) discontinued the treatment after a median duration of 20 months. Many of the adolescents struggled to integrate the injections into their daily lives with peers either facilitating or impeding this transition. The authors concluded that these adolescents had difficulty adhering to diseasemodifying therapies, peers played an important role in mediating their adjustment to MS, and specific strategies are required to improve adolescents’ adherence to treatment, including less intrusive options and enhancing peer support. Adolescence is a developmental period marked by biological, psychological, and social behavior changes. These changes may contribute to lower compliance rates (Costello et al. 2004; Rapoff 2006). Some adolescent patients may not have adequate resources to overcome the challenge of a chronic illness such as MS. MS may also be perceived as an “invisible” disease, leading adolescents to believe that they do not need to follow the treatment schedule (Pritchard et al. 2006). Medical treatment in chronic diseases can have negative implications for peer relationships, such as restricting social activities. In addition, medical treatment can be perceived as a threat to their desire for autonomy, which may cause adolescents to reject the recommendations or assistance of doctors and caregivers (Shaw et al. 2003). Pre-existing psychological dysfunction in their social environment (family or other) may also impact their compliance to treatment. Although infrequent, side effects can alter physical appearance, resulting in lower compliance in adolescents becoming more self-conscious of their bodies (Kyngäs et al. 2000).

11.5 Prognosis and Outcome Kurtzke’s EDSS is the most common disability tool used in MS. EDSS 0 is a normal neurological exam, EDSS < 4 indicates abnormal neurological signs, but no restriction in independence. EDSS between 4 and 6 indicates limitations in daily

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function and EDSS > 6 indicates marked limitations in gait requiring assistance (Banwell et al. 2007a; Yeh et al. 2009). In the study of Boiko et al. (2002b), based solely on the use of the Kaplan–Meier method for survival analysis, the mean time to reach irreversible disability (EDSS 3) was 16 years in the 116 pediatric patients with clinically confirmed MS and a mean follow-up period of 20 years (Boiko et al. 2002b). The median time to reach EDSS 4 was 14 years in the study by Simone et al. (2002). The factors identified as predictive of poor outcome in multivariate analysis were sphincter dysfunction at first attack and a secondary progressive course (83 patients with clinically confirmed MS, mean follow-up period of 5 years). This study also demonstrated a positive correlation between the number of relapses in the first 2 years of the disease and the occurrence of severe disability (i.e., EDSS 4). Mikaeloff et al. (2004a) confirmed this result, using a multivariate survival analysis method (Cox regression model; Collet 1997; Mikaeloff et al. 2004a). In the study of 197 children with an MS-defining second attack, EDSS 4 was observed in 15% of the children after a mean observation period of 7.8 years (Mikaeloff et al. 2006). A severe outcome was defined as occurrence of a third attack, or an EDSS score > 4. At a mean observation of 5.5 years, a severe disease outcome was recorded for 144 patients (73%). The following risk factors for a severe outcome were found: female sex, time between first and second attacks of less than 1 year, childhood-onset multiple sclerosis MRI criteria at onset (as previously described), absence of severe mental state changes at onset, and a progressive course. Different studies with variable follow-up suggest that the determinant of progression to SP MS is disease duration. The mean disease duration associated with a 50% risk of SP course is 23 years in childhood-onset relapsing-remitting MS and 10 years in adults (Boiko et al. 2002b). However, childhood-onset patients generally progress to disability at a younger age than adult-onset patients (Boiko et al. 2002b). The risk of SP course was also associated with a high relapse frequency and shorter interattack intervals in the first few

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years of the disease (Boiko et al. 2002b; Simone et al. 2002). A recent study on long-term prognosis compared a cohort of 394 patients who had multiple sclerosis with an onset at 16 years of age or younger with 1,775 patients who had multiple sclerosis with an onset after 16 years of age (Renoux et al. 2007). For patients with childhoodonset MS, the estimated median time from onset to secondary progression was 28 years, and the median age at conversion to secondary progression was 41 years. The median times from onset to disability scores of 4, 6, and 7 were 20.0, 28.9, and 37.0 years, respectively, and the corresponding median ages were 34.6, 42.2, and 50.5 years. This study concluded that patients with childhood-onset MS take longer (10 years more) to reach states of irreversible disability but do so at a younger age (10 years younger on average) than patients with adult-onset multiple sclerosis (Renoux et al. 2007).

11.6 Cognitive Impairment and School Performance Morbidity associated with MS is broader than motor and gait dysfunction as measured by the EDSS. Childhood MS onset occurs during the key formative academic years and may restrict school attendance. The permanent cognitive impairment in childhood MS was confirmed by descriptive series of children assessed with neuropsychological tests (MacAllister et al. 2005; Banwell and Anderson 2005; Amato et al. 2008). Deficits in general cognition, visuomotor integration, and memory have been reported to occur in at least 30% of children with MS (Banwell and Anderson 2005). The most common impairments included problems in attention, visuomotor integration, confrontation naming, receptive language, and executive function. Verbal fluency was not affected in any of the patients. The severity of cognitive impairment seems to increase with disease duration and is greater in patients who were younger at disease onset (Banwell and Anderson 2005). Conversely, the consequences on educational performance and socioprofes-


sional insertion of the long-term cognitive impairment that such a disease may induce have not been studied epidemiologically. In the French educational system, grade retention was found to be a good proxy for school performance (Sabbagh et al. 2006). A study of most European Union countries, including France, showed that a low socioeconomic status of the family was predictive of poor school performance (PISA 2007). In North America, grade retention was also a validated outcome for the measure and prediction of school performance (Byrd and Weitzman 1994; Pagani et al. 2001). An epidemiological assessment of prognostic factors for school performance was performed in the KIDSEP cohort (Mikaeloff et al. 2010a), which included 344 children with at least one attack of CNS inflammatory demyelination before 16 years of age. They were included from 1990 to 2003, with a mean age at inclusion of 9.9 ± 4.3 years and a mean follow-up of 8.0 ± 3.4 years since inclusion. All patients needed a follow-up of at least 2 years to be included in the study. Baseline data and data concerning the course of the disease were obtained from medical records. Information about the number of siblings, the number of rooms in the family home, parental divorce before or during the year of the attack, grade retention (at least one class) before inclusion, and the socioeconomic status of the family were collected through a specific questionnaire. To evaluate the prognostic value for grade retention between the start of elementary school (~ 6 years of age) and the end of high school (~ 17–18 years of age), we used the Cox multivariate survival analysis to enter these variables in the model. The risk of grade retention after the onset of the disease, as observed in 151 patients (43.9% of the cohort), was significantly higher for children over the age of 11 years at disease onset, children suffering an optic neuritis or a brainstem dysfunction at the first attack, children with irreversible disability following a first attack, children with male gender, and children from families with lower socioeconomic status and poorer housing conditions. The results of the study lead us to the conclusion that the risk factors for poor school performance are related to

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already known predictors of a relapsing severe course of the disease leading to the diagnosis of MS, but also to the low socioeconomic status of the patients’ families. School performance might be improved by preventative interventions, such as education of children and their families, social assistance and school coaching, as well as by focusing on patients with identified risk factors. Further prospective studies investigating the effect of these interventions over time could help optimize them. Since grade retention among patients with demyelinating CNS disease may also be based on prolonged hospitalizations, recovery periods and incapacitating fatigue, the effect of absence from school should also be taken into consideration. A recent study in North America evaluated fatigue and quality of life in 51 pediatric MS patients to determine the rate of fatigue and reduced quality of life and to assess the relations between these variables and clinical factors (MacAllister et al. 2009). Fatigue and quality of life were assessed by a self- and parent-report via the PedsQL Multidimensional Fatigue Scale and the PedsQL Quality of Life Scale. In comparison with healthy samples, pediatric MS patients reported greater difficulties with respect to fatigue, sleep, cognition, physical limitations, and academic performance. In addition to significant difficulties regarding these factors, parents reported problems of emotional functioning and tended to report greater fatigue, sleep, and cognitive difficulties than were self-reported. The expanded disability status scale score was the only neurological variable significantly related to fatigue or quality of life scores. Fatigue was significantly correlated with reports of sleep difficulties, cognitive problems, and quality of life variables. These findings suggested to the authors that fatigue and poorer quality of life is a clear concern in pediatric MS and is related to overall physical disability. A recent study in the Netherlands evaluated the presence and severity of fatigue in 32 children (18 boys and 14 girls) between 11 and 17 years of age (mean: 14 years, 10 months) with a monophasic inflammatory demyelinating disease ( n = 22) or definite MS ( n = 10; Ketelslegers et al. 2010a). This was measured with the Checklist

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Individual Strength. A score of ≥ 40 on the severity of fatigue subscale indicated the presence of severe fatigue. The authors also examined the relation between fatigue and depression (assessed by the Child Depression Inventory) and measured the health-related quality of life (HRQoL), using the TNO-AZL Child Quality of Life child form. A comparison of the scores of the MS and monophasic patients with the scores of healthy Dutch children was performed. The highest scores on the fatigue scales of subjective fatigue and physical activity were found in the children with MS. Only one of the monophasic patients suffered from severe fatigue in contrast to four of the MS patients. In the MS group, fatigue and depression were correlated. MS patients experienced a lower HRQoL on the scales of locomotor functioning, cognitive functioning, and interaction with peers. The authors concluded that the occurrence of fatigue is very rare after a monophasic inflammatory demyelinating event in the past. As expected, fatigue occurs more frequently in pediatric MS patients.

11.7 Social and Professional Insertion of Young Adults with Childhood-Onset MS Studies with sufficiently prolonged periods of follow-up will allow the evaluation of the social/ professional insertion and quality of life of young adults with acute inflammatory demyelination in the CNS in childhood. In accord with the need for such studies, the main projects of the KIDSEP study group, in collaboration with the network of neurologists following adult patients, are to describe the social and professional insertion of young adults from the cohort by qualitative and quantitative studies. Moreover, assessing early on in the disease the factors predicting the successful insertion of the patients could guide supporting interventions such as social assistance, coaching, and psychological counseling, thus improving their insertion later on. Social and professional consequences of the disease were already observed in patients with adult-onset of MS in a large body of literature

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(Larocca et al. 1985; O’Connor et al. 2005; Blomquist 2006; Julian et al. 2008; Pfleger et al. 2010; Salter et al. 2010), but the specificities of patients with childhood-onset of MS must be described in the same way by using accurate epidemiological methodology. Acknowledgments I thank Velina Minkoff for helpful comments regarding the English language. Yann Mikaeloff is supported by Université Paris Sud 11, Institut National de la Recherche Médicale (INSERM) and Assistance publique-hôpitaux de Paris.

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Fetal Alcohol Spectrum Disorders: Review of Teratogenicity, Diagnosis and Treatment Issues

12

Jacquelyn Bertrand and Elizabeth Parra Dang

Abstract

Despite the known adverse effects of prenatal exposure to alcohol, many children who experience these adverse effects do not receive proper diagnosis. Current conceptualizations of the harmful results of in utero alcohol exposure are a continuum or spectrum of disorders or diagnoses, including: fetal alcohol syndrome, partial fetal alcohol syndrome (pFAS), alcohol-related birth defects (ARBD), and alcohol-related neurodevelopmental disorder (ARND). A more recent term that has been introduced is fetal alcohol spectrum disorders (FASD). In this chapter, we discuss diagnosis, treatments, and approaches for optimal health outcomes for children with FASD. While the number and severity of negative effects can range from subtle to serious, the negative consequences are lifelong. By strengthening families and caregivers through education, advocacy, and programs, there will be not only benefit to individuals living with an FASD, but also families and communities at large. Abbreviations

ADHD Attention-Deficit/Hyperactivity Disorder ARBD Alcohol-Related Birth Defect ARND Alcohol-Related Neurdevelopmental Disorder CDC Centers for Disease Control and Prevention CNS Central Nervous System DTI Diffusion Tensor Imaging FAS Fetal Alcohol Syndrome FASD Fetal Alcohol Spectrum Disorders MRI Magnetic Resonance Imaging NIH National Institutes of Health J. Bertrand () · E. P. Dang Centers for Disease Control and Prevention, National Center on Birth Defects and Developmental Disabilities, 1600 Clifton Road, NE, GA 30333, Atlanta, USA e-mail: [email protected] E. P. Dang e-mail: [email protected] D. Hollar (ed.), Handbook of Children with Special Health Care Needs, DOI 10.1007/978-1-4614-2335-5_12, © Springer Science+Business Media New York 2012

231

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OFC Occipitofrontal Circumference (Head Circumference) pFAS Partial Fetal Alcohol Syndrome NOFAS National Organization on Fetal Alcohol Syndrome SAMHSA Substance Abuse and Mental Health Services Administration

12.1 Introduction Alcohol is a teratogen. Teratogens are substances that are capable of altering cell size, form, or function. Substantial empirical and clinical scientific evidence, both with human beings and animals, has shown that prenatal exposure to alcohol causes damage to the developing embryo and fetus, resulting in physical malformations, growth retardation, abnormal functioning of the central nervous system (CNS), or a combination of these. These negative effects are serious and can result in conditions known as fetal alcohol spectrum disorders (FASDs).1 While the number and severity of negative effects can range from subtle to serious, the negative consequences are lifelong. Such exposure is commonly cited as a leading preventable cause of birth defects and developmental disabilities (Stratton et al. 1996). The effects of prenatal exposure to alcohol and basic diagnostic features of fetal alcohol syndrome (FAS) were first described in the medical literature in France in the late 1960s by Lemoine et al. (1968). A few years later, a fuller description was published in US medical literature (Jones and Smith 1973, Jones et al. 1973). In 1981, the US Surgeon General issued a public health advisory warning that alcohol use during pregnancy could cause birth defects; this advisory was reissued in 2005. Despite the known adverse effects of prenatal exposure to alcohol, many children who experience these adverse ef1

Throughout this chapter, the terms FAS and FASDs are used. While FASDs is the default term, FAS is used when referring to diagnostic criteria specifically for fetal alcohol syndrome, when discussing findings from specific studies that denoted FAS without reference to the spectrum (especially older studies before the term FASDs was adopted) and widely cited prevalence rates.

J. Bertrand and E. P. Dang

fects do not receive proper diagnosis. Current conceptualizations of the harmful results of in utero alcohol exposure2 are a continuum or spectrum of disorders or diagnoses, including: fetal alcohol syndrome, partial fetal alcohol syndrome (pFAS), alcohol-related birth defects (ARBD), and alcohol-related neurodevelopmental disorder (ARND). A more recent term that has been introduced is fetal alcohol spectrum disorders (FASD). In April 2004, several federal agencies (National Institutes of Health (NIH), Centers for Disease Control and Prevention (CDC), and Substance Abuse and Mental Health Services Administration (SAMHSA)) along with experts in the field were convened by the National Organization on Fetal Alcohol Syndrome (NOFAS) to develop a uniform definition of FASD. The definition adopted is as follows: Fetal alcohol spectrum disorders (FASDs) is an umbrella term describing the range of effects that can occur in an individual whose mother drank alcohol during pregnancy. These effects may include physical, mental, behavioral, and/or learning disabilities with possible lifelong implications. The term FASD is not intended for use as a clinical diagnosis. (Warren et al. 2004)

Although FASDs are commonly thought of as rare disorders, this is a misconception. Estimates, using a variety of case identification methods, range from less than 1 to 11 cases per 1,000 live births or children depending on methodology (CDC 2002; May et al. 2009). Thus, rates of this disorder are similar to those reported for other developmental disabilities such as Down syndrome or spina bifida (Mirkes 2003; Shin et al. 2010). Issues regarding prevalence and a child being at risk for an FASD diagnosis due to prenatal alcohol exposure are discussed in a later section. This chapter provides a brief review of what is known about FASDs with emphasis on diagnostic features of FAS, particularly central nervous system (CNS) deficits. Specificity of alcohol as a teratogen from both animal and human neuroimaging literature is presented. We include a section on other diagnoses within the spectrum of FASDs, 2 The phrase “in utero alcohol exposure” is used interchangeably with the more traditional phrase “prenatal alcohol exposure.”

12 Fetal Alcohol Spectrum Disorders: Review of Teratogenicity, Diagnosis and Treatment Issues

however, many of these disorders are less well characterized with less specificity in diagnosis. Because mental health issues are emerging as an important area to consider for individuals with an FASD and not currently part of the diagnostic criteria, they are discussed separately. Finally, we provide information on effective treatments and interventions for individuals with an FASD as well as family issues. We conclude with suggestions for next steps, as outlined by the National Task Force on Fetal Alcohol Syndrome and Fetal Alcohol Effect: A Call to Action: Advancing Essential Services and Research on Fetal Alcohol Spectrum Disorders (Carmichael-Olson et al. 2009a).

12.2 Evidence of Brain Damage Associated with Prenatal Alcohol Exposure from Neuroimaging and Animal Studies As noted in the Introduction, there is an abundance of scientific literature demonstrating the teratogenic effects of alcohol in both animals and humans, including neuroimaging studies. Studies using animal models are particularly useful for establishing the role of prenatal alcohol exposure since dose, timing, and pattern can be controlled, unlike what can be achieved in human studies. Animal studies are particularly useful for demonstrating that the cognitive and behavioral deficits observed for individuals with FASDs arise from the brain damage resulting from in utero exposure to alcohol rather than other environmental or parenting factors, a persistent misconception (Riley and McGee 2005). Neuroimaging basic research studies expand this knowledge base and bring these data, findings, and procedures closer to clinical utility. Although a thorough review of these vast literatures is beyond the scope of this chapter, we briefly review some of the major findings from these lines of research to elucidate three aspects: (1) impact of prenatal alcohol exposure on brain volume, (2) impact on specific brain regions, and (3) impact on brain physiology. For more detailed reviews of these literatures, see Norman et al. (2009).

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12.2.1 Brain Volume One of the most consistent findings is a reduction of overall brain size with prenatal exposure to alcohol including both animals and humans. Earliest reports, based on autopsy findings, indicated severe microcephaly of infants and children with very heavy prenatal alcohol exposure (Clarren 1986; Jones and Smith 1973, Jones et al. 1973). Use of neuroimaging techniques, such as magnetic resonance imaging (MRI), has documented this reduction in greater detail (for reviews see Riley and McGee 2005 and Norman et al. 2009). Researchers have reported adolescents and adults with in utero alcohol exposure had up to a 13% reduction in cranial volume compared to nonexposed controls (Mattson et al. 1994). Some structures such as the basal ganglia, cerebellum, and corpus callosum are disproportionally affected. The consistency of these findings, in both animal and human studies, has been reflected across diagnostic schemes through structural, neurologic, or functional CNS abnormality components.

12.2.2 Brain Regions Studies have consistently shown not only reduction in overall size as a result of prenatal alcohol exposure, but also changes in the shape and altered division of tissue across critical substructures (Autti-Ramo et al. 2002; Bhatara et al. 2002; Johnson et al. 1996; Riley et al. 1995; Sowell et al. 2001). The most researched structure of the brain is the corpus callosum. The corpus callosum serves as a bridge between the two hemispheres of the brain and is central to the exchange and integration of information across the hemispheres. In a small number of cases of individuals with heavy in utero exposure to alcohol, there has been reported complete or partial agenesis of the corpus callosum (Mattson et al. 1992; Riley et al. 1995; Swayze et al. 1997). Functionally, disruptions in the corpus callosum can manifest as difficulty in most domains such as learning, memory, attention, executive functioning, or coordinated motor activity (Norman et al. 2009).

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Another structure that has received a good deal of research attention is the cerebellum. The cerebellum receives neuroimpulses from several sensory systems, including the vestibular system. Thus, this structure of the hindbrain is associated with equilibrium, motor reflexes (Kolb and Whishaw 1995), other motor functions (Roebuck et al. 1998), attention (Mattson et al. 2006), and several learning processes (Jacobson et al. 2008; Woodruff-Pak et al. 2000). Individuals with the full FAS diagnosis and individuals with in utero exposure without the full syndrome have been shown to have both decreased cerebellar surface and volume (Archibald et al. 2001; Autti-Ramo et al. 2002; Mattson et al. 1992, 1994; Norman et al. 2009). These decreases may be more localized to the earlier forming structures that connect the left and right sides of the cerebellum (i.e., anterior vermis) rather than the later forming cerebellar structures (i.e., posterior vermis). This emphasizes the increased vulnerability of brain structures during early fetal development. Finally, the basal ganglia are associated with both motor movement and mediation of emotional expression (Cytowic 1996). In studies that control for overall brain size of children and adolescents with FASDs, the caudate nucleus (a concentration of dopamine neurons within the basal ganglia) primarily accounts for the observed reductions (Mattson et al. 1992, 1994, 1996; Archibald et al. 2001). Furthermore, direct correspondences between caudate volume reductions and deficits in measures of inhibition, verbal skills, and motor control problems have been reported (Mattson et al. 2001; Adnams et al. 2001; Kraft et al. 2007).

pulses, resulting from less than optimal organization of white matter and impaired communication between brain structures (Ma et al. 2005; Fryer et al. 2009; Lebel et al. 2008) for individuals with in utero alcohol exposure compared to nonexposed controls. Structures implicated by these findings replicate findings from MRI studies, reviewed above, such as the corpus callosom (Sowell et al. 2008; Wozniak et al. 2006). Using positron emission tomography, Clark et al. (2000) found decreased glucose metabolism by the brain of adolescents and adults with FAS. Riikonen et al. (1999, 2005) demonstrated lower levels of serotonin transport using single photon emission computed tomography. Finally, animal studies also have revealed disruptions in the endocrine functioning of offspring who experience in utero alcohol exposures, particularly related to functioning of the hypothalamus (Weinberg et al. 2008). Specifically, in rodent models, alcohol-exposed neonates showed evidence of abnormal activation of their endocrine system (e.g., increased levels of corticosterone), possibly resulting in delayed maturation of hormone homeostasis (Gabriel et al. 1998). For more detail on these studies of brain physiology differences for individuals with an FASD, see Norman et al. (2009). These studies clearly demonstrate that in utero exposure to alcohol has potentially severe and negative consequences for a developing fetus resulting in deficits of overall brain size, abnormalities of specific brain structures, and changes in brain physiology. These aspects of brain damage have been linked to deficits of skills and impaired behaviors. These functional deficits are reviewed in the next section.

12.2.3 Brain Physiology

12.3 Diagnosis of FAS

A more recent line of research investigates abnormal brain physiology in individuals with in utero alcohol exposure using very sophisticated technologies. The movement of water molecules, as measured by diffusion tensor imaging (DTI), indicates increased diffusion of neuroim-

Presently, four commonly reported schemes for diagnosis of FAS are available: Institute of Medicine (Stratton et al. 1996); 4-Digit Code (Astley 2004); Hoyme et al. (2005); and the National Task Force on Fetal Alcohol Syndrome and Fetal Alcohol Effect diagnostic guidelines (Bertrand


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Table 12.1 Brief outline of guidelines for diagnosis of FAS from the national task force on Fetal Alcohol Syndrome and Fetal Alcohol Effect Facial dysmorphia Based on racial norms, individual exhibits all three characteristic facial features: Smooth philtrum (University of Washington Lip-Philtrum Guide rank 4 or 5) Thin vermillion border (University of Washington Lip-Philtrum Guide rank 4 or 5) Small palpebral fissures (at or below 10th percentile) Growth problems Confirmed prenatal or postnatal height or weight, or both, at or below the 10th percentile, documented at any one point in time (adjusted for age, sex, gestational age, and race or ethnicity) Central nervous system abnormalities I. Structural 1. Head circumference (OFC) at or below the 10th percentile adjusted for age and sex 2. Clinically significant brain abnormalities observable through imaging II. Neurological Neurological problems not due to a postnatal insult or fever, or other soft neurological signs outside normal limits III. Functional Performance substantially below that expected for an individual’s age, schooling, or circumstances, as evidenced by: 1. Global cognitive or intellectual deficits representing multiple domains of deficit (or significant developmental delay in younger children) with performance below the 3rd percentile (2 standard deviations below the mean for standardized testing) Or 2. Functional deficits below the 16th percentile (1 standard deviation below the mean for standardized testing) in at least three of the following domains: a. cognitive or developmental deficits or discrepancies b. executive functioning deficits c. motor functioning delays d. problems with attention or hyperactivity e. social skills f. other, such as sensory problems, pragmatic language problems,memory deficits, etc. Maternal alcohol exposure I. Confirmed prenatal alcohol exposure II. Unknown prenatal alcohol exposure Criteria for FAS diagnosis Requires all three of the following findings: 1. Documentation of all three facial abnormalities (smooth philtrum, thin vermillion border, and small palpebral fissures) 2. Documentation of growth deficits 3. Documentation of CNS abnormality

et al. 2004; CDC 2005). Despite minor differences for inclusion and exclusion at both ends of the spectrum, all four diagnostic schemes delineate four areas of consideration to meet the criteria for an FAS diagnosis: in utero alcohol exposure, dysmorphology, growth retardation, and abnormalities of the CNS. Because of their representativeness, guidelines established by the National Task Force on Fetal Alcohol Syndrome and Fetal Alcohol Effect are presented in Table 12.1. Each area is reviewed in turn.

12.3.1 Exposure Documentation and confirmation of prenatal alcohol exposure is an initial step in the evaluation and assessment process, but can be extremely challenging. Many clinicians are hesitant or have difficulty asking mothers about alcohol, especially about alcohol use during pregnancy, since it is a legal substance readily accepted by society. For birth mothers, admitting alcohol use during pregnancy can be very stigmatizing. The situation can be further complicated if the woman is still using

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alcohol, especially at high consumption rates. In this situation, information about alcohol use might need to be obtained from other reliable informants, such as a relative (Chang 2002). Even for women who are not abusing or misusing alcohol, it is important to inquire about alcohol use. Currently, more than half of all women of childbearing age report drinking alcohol in the past 30 days (Denny et al. 2009). Most of these women are sexually active and might not be taking effective measures to prevent pregnancy since approximately half of all pregnancies are unplanned in the United States (Denny et al. 2009; Finer and Henshaw 2006). These women are at risk for an alcohol-exposed pregnancy, which could result in a child with an FASD (Floyd et al. 2009). Even for a planned pregnancy, in utero exposure to alcohol can still occur early since pregnancy recognition generally does not occur until the 4th to 6th week of gestation (Floyd et al. 1999). A fetus is at risk even during these initial stages of gestation (Coles 1994). The most common situation encountered in the clinical setting is when a child or adult is being evaluated for FAS and little or no information about the mother’s pregnancy is available. This frequently occurs for children in foster and adoptive homes, a common situation for children with FASDs (Astley and Clarren 1996). In this situation, efforts should be made to obtain the necessary information, perhaps through ancillary records (e.g., adoption reports, child protective services assessments, etc). However, it should be noted that the lack of confirmation of alcohol use during pregnancy does not preclude an FAS diagnosis if all other criteria are present. Such cases would be considered to have “unknown prenatal alcohol exposure.” In very rare instances, there will be confirmed absence of exposure. Documentation that the birth mother did not drink any amount of alcohol from conception through birth would indicate that an FAS diagnosis is not appropriate. This typically implies that the birth mother knew the date of conception (e.g., a planned pregnancy) and did not consume alcohol from that day forward, or she was prevented from drinking for some reason (e.g., incarceration). Although there is consistency across diagnostic schemes that as-


sessing maternal drinking during pregnancy is needed, specific requirements for particular diagnoses across the spectrum may differ (e.g., documentation of confirmed in utero exposure might be required for a diagnosis of ARND but not FAS provided all other criteria are present; Stratton et al. 1996). Efforts to improve techniques and identify new sources of exposure information are priorities in the FAS field.

12.3.2 Dysmorphia Human congenital minor malformations, usually of the face, are referred to as dysmorphic features or dysmorphia (Aase 1990). Dysmorphia occurs when normal morphogenesis is interrupted, creating a particular feature, which is shaped, sized, or positioned outside the normal range of development. Alcohol is a teratogen that results in dysmorphia through interference with cell development and functioning, alterations in the ability of cells to grow and survive, increased formation of cell-damaging free radicals, altered pathways of biochemical signals within cells, and altered expression of certain genes and genetic information. In short, alcohol has been shown to interfere with fetal cell development and function in a variety of ways (Michaelis and Michaelis 1994; Abel 1996). In first describing the dysmorphic features of FAS, Jones and colleagues focused on short palpebral fissure, maxillary hypoplasia (with prognathism), and the presence of epicanthal folds that were observed for a majority of the children described. Other features also were noted for some patients, including altered palmar flexion crease patterns (i.e., hockeystick crease), cardiac anomalies, joint abnormalities, overlapping fingers, ear anomalies, hemangiomas, ptosis, hypoplastic nails, and pectus abnormalities (Jones and Smith 1973, Jones et al. 1973). Over the next 30 years, additional features described included: microcephaly, short nose, smooth philtrum with thin vermillion border, cleft lip, micrognathia, protruding auricles, short or webbed neck, vertebra and rib anomalies, short metacarpal bones, menigomyelocele, hydrocephalus, and hypoplastic labia majora (Jones 2006).


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Fig. 12.1 Dysmorphic features of Fetal Alcohol Syndrome

Despite the heterogeneity of expression for dysmorphic features (both in number of features and severity of individual features) related to prenatal exposure to alcohol, core facial dysmorphic features have emerged through human and animal studies. Experimental studies with a mouse model and primates indicate that the facial dysmorphia observed for individuals with FAS are the result of disturbances of cellular migration during organogenesis along the midline of the face (Johnson et al. 1996). Using anthropomorphic measurements of all facial features, clinical researchers have confirmed the midline feature abnormalities (Moore et al. 2002). Studies of clinic-referred samples also support these features as discriminating FAS from other dysmorphic syndromes (Astley and Clarren 2001; Coles et al. 1991). Finally, studies with fish, mice, and other rodents have demonstrated that the craniofacial features of FAS are specific to alcohol teratogenicity (Sulik 2005; Sulik et al. 1981; Webster et al. 1980). Based on these scientific findings and extensive clinical experience, there is agreement across all diagnostic schemes for the following facial dysmorphic features to be considered the cardinal features necessary for an FAS diagnosis (based on racial norms): (1) smooth philtrum, (2) thin vermillion border (i.e., upper lip), and (3) small palpebral fissures. These features are illustrated in Fig. 12.1. The individual must

exhibit all three characteristic facial features; however, additional features also can be present. For example, maxillary hypoplasia or micrognathia (small jaw) are sometimes noted for individuals with FAS as well as those associated features described previously. Cross-sectional and longitudinal studies indicate that many features can change with age or development. After puberty, the three cardinal characteristic facial features associated with FAS can be more difficult to detect (Streissguth 1997; Clarren et al. 2010). As with all clinical diagnoses, differential diagnosis is an essential and critical component of the process. Individual dysmorphic features are not unique to any particular syndrome. For example, a smooth philtrum is associated with Cornelia de Lange syndrome, a thin vermillion border Fetal Valproate syndrome and small palpebral fissure with Williams’s syndrome. Even rare defects or certain clusters of dysmorphic features can appear in a variety of syndromes. Some syndromes give a “gestalt” that is similar to the “gestalt” of FAS, such as: Aarskog syndrome, Williams syndrome, Noonan syndrome, Dubowitz syndrome, Cornelia de Lange syndrome, fetal hydantoin syndrome, fetal valproate syndrome, maternal PKU fetal effects, and toluene embryopathy (Jones 2006). These syndromes should be considered in particular when completing the differential diagnosis.

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12.3.3 Growth Retardation Growth retardation, variably defined, has been documented consistently in individuals with FAS. However, across diagnostic schemes, a variety of parameters (e.g., height, weight, and head circumference), severity levels (below 25th, 10th, 3rd, or 2nd percentiles), and timing of growth retardation (current, at birth, or present at any point during life) have been designated. The primary parameters of growth usually included in the growth retardation criteria for FAS are a combination of height, weight, and sometimes head circumference. Because multiple organic factors can lead to growth deficiencies (e.g., brain structure abnormalities leading to poor skeletal growth or disruption of endocrine function leading to poor weight gain), most children with FAS are symmetrical for height and weight (Jacobson and Jacobson 2002). Whether a particular diagnostic scheme sets the threshold for growth retardation at the more conservative 3rd percentile (e.g., Astley 2004; Astley and Clarren 2001) or more inclusive 10th percentile (e.g., Bertrand et al. 2004; CDC 2005) is a reflection of the purposes of the diagnostic or classification scheme rather than disagreement about the use of growth retardation as a core diagnostic component of the disorder. The 4-Digit Code (Astley 2004) was designed to be highly replicable by a variety of clinicians across Washington State, thus conservative thresholds were set to minimize clinical interpretation and false positive diagnoses. However,the guidelines of the National Taskforce on Fetal Alcohol Syndrome/ Fetal Alcohol Effects (Bertrand et al. 2004) were designed from a public health perspective to maximize the number of children getting a proper diagnosis and appropriate treatment services. The timing of growth retardation has been debated: whether growth retardation needs to be present at the time of the diagnosis or whether it could have occurred previously and been resolved. This is particularly important when including prenatal growth retardation or early growth problems due to failure to thrive, which can be ameliorated soon after birth through supplementation. Because a great number of treatments exist for growth problems (e.g., feed-


ing tubes or hormone therapy), most diagnostic schemes adopted an “any history of growth retardation” criterion, including prenatal growth retardation (Astley 2004; Bertrand et al. 2004; Hoyme et al. 2005; Stratton et al. 1996). Growth retardation and growth deficiencies occur in children, adolescents, and adults for a lot many reasons. An obvious diagnosis to exclude is insufficient nutrition—a particular problem for infants with poor sucking responses that experience failure to thrive. In addition, several genetic disorders result in specific growth deficiencies (e.g., bone dysplasias). Prenatal growth retardation can be due to a variety of factors, including maternal smoking or other behaviors leading to hypoxia, poor maternal nutrition, or genetic disorders. Both environmental and genetic bases for growth retardation should be considered for differential diagnosis when considering the FAS diagnosis.

12.3.4 CNS Abnormalities More than 2,000 scientific papers regarding the teratogenic effects of alcohol exposure on the CNS have been published over the past 30 years showing the impact of fetal exposure to alcohol on a range of short- and long-term cognitive and behavioral outcomes. As noted previously, prenatal exposure to alcohol can result in an array of structural, functional, neurological problems of the CNS, or a combination of these factors (Mattson and Riley 1998; Bertrand et al. 2004). Within all diagnostic schemes, CNS abnormality must be demonstrated by either, structural, neurological, or functional deficits/abnormalities or a combination thereof, although functional deficits are encountered most often in the clinical setting. While we review all three types of CNS abnormalities that can be used to meet the CNS abnormality criteria of an FAS diagnosis, functional difficulties are the most commonly encountered. Thus, we provided extended discussion on how functional abnormalities in several domains known to be vulnerable to prenatal alcohol exposure should be assessed and monitored for indication on an FASD diagnosis.


1. Structural deficits might include documented small or diminished overall head circumference (OFC at or below the 3rd or 10th percentile) adjusted for age and gender (including head circumference at birth or disproportionately small head size relative to overall size). In general, decreased head circumference, at birth or postnatally, reflects slowed/restricted brain growth or structural brain abnormalities. Although less likely to be obtained during a routine medical evaluation, clinically significant brain abnormalities observable through imaging techniques (e.g., reduction in size or change in shape of the corpus callosum, cerebellum, or basal ganglia) as assessed by an appropriately trained professional also might meet criteria for structural brain abnormality for diagnosing FAS (see Norman et al. 2009 for review of structural abnormalities). 2. Neurological deficits also indicate damage to the CNS resulting from in utero alcohol exposure, including seizures, poor coordination, visual motor difficulties, nystagmus, or difficulty with motor control (Roebuck et al. 1998; Church 1996; Marcus 1987). While such deficits may be observed in a variety of medical, therapeutic, and educational settings, they are less likely to be formally recognized or diagnosed than functional deficits. 3. Functional deficits/abnormalities are by far the most frequently used criterion for documenting CNS abnormalities to diagnose FAS. The functional abilities affected by prenatal exposure to alcohol vary greatly from person to person, depending on the amount of alcohol exposure, timing of exposure, and pattern of exposure (e.g., chronic exposure vs. binge episodes), as well as maternal, fetal, and environmental influences. Despite the inherent variation in effects, several areas of significant functional deficits, consistent with the corresponding structural abnormalities, have been reported by clinicians and clinical researchers (e.g., corpus callosum, cerebellum, or basal ganglia (Bertrand et al. 2004; Chasnoff et al. 2010; Kodituwakku 2009; Mattson and Vaurio 2010). The domains most often associated with prenatal alcohol exposure and

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most likely to be identified in clinical settings are described below. However, this list is not intended to be exhaustive and other domains and abilities may be affected depending on the specific interaction of dose, timing, and environment encountered by an affected individual. For each domain, we present findings relevant to an FASD diagnosis and more informational statements that parents, caregivers, or educators may express regarding a particular child that may indicate that an FASD diagnosis should be considered (comments from: Bertrand et al. 2004; Fetal Alcohol Spectrum Disorders Center for Excellence 2004; Mitchell 2002; Streissguth 1997). Because multiple locations in the brain (and corresponding functional capability) are affected by prenatal exposure to alcohol, functional deficits that fulfill the CNS abnormality criteria for FAS can be met in two ways in the major diagnostic schemes: (1) Global cognitive deficit (e.g., decreased IQ or DQ) or (2) Deficits in multiple specific functional domains (e.g., three or more domains).3 a. Global deficits or delays for individuals with FASDs have been consistently reported (Kabel and Coles 2004; Mattson et al. 1997; Streissguth et al. 1996). It is important to note that even if a child has global intellectual or developmental deficits, he or she may still score in the normal range of development, but below what would be expected for his or her environment and background (Adnams et al. 2001; Mattson et al. 1997). Only about one quarter of the individuals with complete FAS would be classified as having intellectual disability or impaired for a particular skill. It has consistently been reported in clinical samples that only approximately 25% of individuals with a full diagnosis of FAS score two or more standard deviations below the mean on standardized measures of IQ or neuropsy3 Decreased performance on a standardized measure of cognition/intelligence or development assumes deficits in multiple domains. In the absence of such a global measure, several specific domains should be assessed individually to determine that multiple functional domains have been affected.

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chological functioning, with an even smaller percentage of those with less severe FASDs (such as pFAS or ARND) function at that level (Kerns et al. 1997; Mattson et al. 1997; Streissguth et al. 1996). In addition to formal testing (either through records or current testing), behaviors that might be observed (or reported) in the clinical setting that suggest cognitive deficits or developmental delays and that should be assessed in a diagnostic or referral situation include but are not limited to: specific learning disabilities ( especially math and/or visual-spatial deficits); uneven profile of cognitive skills; poor academic achievement; discrepancy between verbal and nonverbal skills; and slowed movements or reaction to people and stimuli ( e.g., poor information processing; Bertrand et al. 2004; Mitchell 2002; Streissguth 1997). b. Attention problems are often noted for children with FAS, with many receiving a diagnosis of attention-deficit/hyperactivity disorder (ADHD; Lee et al. 2004; Nanson and Hiscock 1990; O’Malley and Nanson 2002). Although such a diagnosis can be applied, some research has shown that the attention problems of children with FAS differ from the classic pattern of ADHD. Individuals with FAS tend to have difficulty with the encoding of information and flexibility (shifting) aspects of attention; whereas children with ADHD typically display problems with focus and sustaining attention (Coles et al. 1997; Coles et al. 2002; Kopera-Frye et al. 1997). Furthermore, additional modalities might impact attentional skills for children with an FASD. Researchers have found that participants with FAS performed worse on measures of visual attention than measures of auditory attention (Coles et al. 2002; Lee et al. 2004). Individuals with an FASD also can appear to display hyperactivity because their impulsivity might lead to increased activity levels. Additional behaviors that might be observed ( or reported) in the clinical setting that suggest attention problems related to FAS should be assessed by standardized testing include, but are not limited to: described by adult as “busy”;


inattentive; easily distracted; difficulty calming down; overly active; difficulty completing tasks; and/or trouble with transitions. Parents might report inconsistency in attention from day to day ( e.g., “on” days and “off” days; Adnams et al. 2001; Oesterheld and Wilson 1997; Streissguth et al. 1996; Streissguth et al. 1986). c. Executive functioning (EF) is defined as the ability to maintain an appropriate problemsolving set for attainment of a future goal, which includes the more specific skills of inhibition, planning, and mental representation (Pennington et al. 1996). The interrelation and overall involvement of attention, memory and processing skills, and EF is still being discussed theoretically and investigated experimentally. EF is thought to involve handling of novel information, situations, and problem solving within these related domains, as well as override more automatic responses (i.e., inhibit) when necessary (Norman and Shallice 2000; Posner and Petersen 1990). Clear deficits in EF have been shown for individuals with an FASD (Mattson et al. 1999). In measures of rule shifting (as measured by the Wisconsin Card Sorting task) and working memory (as measured by the backward digit span test), individuals with an FASD have demonstrated poorer performance compared to controls who do not have in utero exposure to alcohol (Kodituwakku 2009). Other aspects of EF also are impaired for this population including planning (as measured by tower tasks) and slower information processing (as measured by fluency and reaction time tasks). Behaviors that can be identified through observation or reported by a caretaker) in the clinical setting that might indicate an EF deficit that should be assessed by standardized testing include, but are not limited to: poor organization, planning, or strategy use; concrete thinking; lack of inhibition; difficulty grasping cause and effect; inability to delay gratification; difficulty following multistep directions; difficulty changing strategies or thinking of things in a different way (i.e., perseveration); poor judgment; and inability to


apply knowledge to new situations (Bertrand et al. 2004; Mitchell 2002; Streissguth 1997). d. Motor and visual spatial functioning delays or deficits have consistently been reported for individuals with FAS, including very young infants and toddlers (Coles and Platzman 1993; Janzen et al. 1995). Visual-motor/visual-spatial coordination is a particularly vulnerable area of functioning, which might cascade into difficulty with math concepts and skills later in development (Kabel and Coles 2004; Kabel et al. 2007). Deficits in balance (Roebuck et al. 1998; Roebuck et al. 1999) and coordination (Steinhausen et al. 1982) have been observed as well as delayed motor milestones such as sitting, walking, climbing stairs with alternating feet or peddling (Kyllerman et al. 1985), and abnormal gait (Marcus 1987). Several researchers have reported reduced scores on the Berry–Butenika Test of Visual Motor Integration (VMI) by individuals with an FASD compared to controls (Janzen et al. 1995; Mattson et al. 1998; Uecker and Nadel 1996). Behaviors that can be seen (or reported) in the clinical setting that indicate motor problems that should be assessed by standardized testing include, but are not limited to: delayed motor milestones; difficulty with writing or drawing; clumsiness; balance problems; tremors; and poor dexterity. For infants, a poor suck is often observed (Autti-Ramo and Granstrom 1991; Bertrand et al. 2004; Mitchell 2002). e. Social skills problems and immaturity arising from the executive, attention, and developmental problems described previously often lead to significant difficulty for people with FASDs when interacting with peers and others. Because of the mental representation problems, individuals with FASDs often have social perception or social communication problems that make it difficult for them to grasp the subtler aspects of human interactions (Carmichael-Olson et al. 1998; Thomas et al. 1998). Ratings by both parents and teachers have consistently shown that children with an FASD have poorer social skills than control children, including fewer friendships, immature interaction skills, and lack of social

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awareness (O’Connor et al. 2006; Whaley et al. 2001). Behaviors that can be observed (or reported) in the clinical setting that indicate these types of social difficulties that should be assessed by standardized testing include, but are not limited to: lack of stranger fear; often scape-goated; naiveté and gullibility; easily taken advantage of; inappropriate choice of friends; preferring younger friends; immaturity; superficial interactions; adaptive skills significantly below cognitive potential; inappropriate sexual behaviors; difficulty understanding the perspective of others; poor social cognition; and clinically significant inappropriate initiations or interactions (Bertrand et al. 2004; Carmichael-Olson et al. 2009b; O’Connor et al. 2006). f. Other impairments in addition to these most often cited problem areas, other deficits and problems to be assessed by standardized testing include: sensory problems (e.g., tactile defensiveness and oral sensitivity); pragmatic language problems (e.g., difficulty reading facial expression; poor ability to understand the perspectives of others); memory deficits (e.g., forgetting well-learned material and needing many trials to remember); and difficulty responding appropriately to common parenting practices (e.g., not understanding causeand-effect discipline). While abnormalities in these other areas have been reported for some individuals with FAS, deficits in these areas present at a lower frequency than do those in the specific domains described (Bertrand et al. 2004; Stratton et al. 1996; Streissguth 1997).

12.3.5 Comorbidities Differential diagnosis of CNS abnormities involves not only ruling out other disorders but also specifying cooccurring disorders. The CNS deficits associated with FAS, in particular functional deficits, have other etiologies. When evaluating a child for an FASD, it is important to determine that the observed functional deficits are not better explained by other causes. In addition to other organic syndromes that produce deficits in one or

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more of the previously cited domains (e.g., Williams syndrome), significantly disrupted home environments or other external factors can produce functional deficits in multiple domains that overlap with the domains that are affected by FAS. In making the differential diagnosis of FAS by ruling out other syndromes, CNS abnormalities should be evaluated in conjunction with dysmorphia and clinical findings. The more difficult differentiation is for CNS abnormalities resulting from environmental influences (e.g., abuse or neglect, disruptive homes, and lack of opportunities). To assist with differential diagnosis between FAS and environmental causes for CNS abnormalities, it is important to obtain a complete and detailed medical and social history for the individual and his or her family—including the circumstances of the pregnancy. However, in utero exposure to alcohol as a possible cause or contributor to neurocognitive problems should be considered by all professionals interacting with children, especially children who might need more extensive diagnostic evaluations. In addition to ruling out other causes for CNS abnormalities, a complete diagnostic evaluation should identify and specify other disorders that can coexist with FAS (e.g., autism, conduct disorder, and oppositional defiant disorder). It is very important to note that a particular individual might have a conduct disorder in addition to FAS, but not all persons with a conduct disorder have FAS and not all individuals with FAS will have a conduct disorder. Thus, organic causes, environmental contributions, and comorbidity should all be considered for both inclusive and exclusive purposes when evaluating someone for the FAS diagnosis (Kabel and Coles 2004; Streissguth 1997). Difficulty in any of the functional CNS areas described above can lead to maladaptive behavior and mental health problems with lifelong consequences. Approximately 87–97% of individuals with an FASD present with a comorbid Axis I psychiatric diagnosis (O’Connor et al. 2002; Fryer et al. 2007; O’Connor and Paley 2009). Commonly cooccurring mental health issues (excluding attention problems) reported by clinicians and cited in the scientific literature to date, include conduct disorders, oppositional


defiant disorders, anxiety disorders, adjustment disorders, sleep disorders, and depression (see O’Connor and Paley 2009 for review). Although attention problems can be classified as a mental health issue or psychiatric condition, they are most likely a primary deficit resulting directly from alcohol-related CNS damage, rather than a mental health issue arising from other factors (O’Connor and Paley 2009). In addition, while not diagnosed conditions, decreased adaptive skills, and increased problems with daily living abilities have been consistently documented, although further research is needed. Such problems include dependent living conditions, disrupted school experiences, poor employment record, substance misuse or abuse, and encounters with law enforcement (including incarceration; Streissguth et al. 1996; Streissguth et al. 2004). Although these very debilitating lifelong consequences should not be used for the purpose of diagnosis, it should be noted that they are very prevalent among individuals with FAS and are very likely to be the presenting conditions that should trigger a referral and comprehensive diagnostic evaluation as well as require treatment and/or intervention.

12.3.5.1 Changes in Presentation of Diagnostic Features Across Development As would be expected for any congenital syndrome, presentation of the diagnostic features can change over development. With regard to facial features (small palpebral fissures, smooth philtrum, and thin vermillion border), it has generally been accepted that these features are most evident during infancy and the early preschool years. With aging, these features might become less distinct from the general population (Clarren et al. 2010), especially for those features that seem to become more prevalent in the aging general population due to normal process (e.g., smooth philtrums due to loss of collagen). One also might expect growth parameters to change (and generally normalize) with development and interventions (e.g, adequate nutrition). The CNS criteria show the most change over development. While structural abnormalities would remain


consistent, neurological and functional deficits could resolve or change presentation at various stages of development. During the newborn and infancy periods, difficulty with arousal or behavior regulation might be observed. Slightly older infants could display delayed or abnormal motor skills. During late infancy approaching the preschool period, general cognitive delay is generally reflected through delayed developmental milestones. During the preschool period, attention problems and hyperactivity can emerge. In typically developing children, the late preschool through early school age (e.g., 4 through 7 years of age) is when many executive functioning and social perception skills are acquired. For example, simple planning or organization skills are learned, as well as understanding the physical and mental perspective of others. Another example would be children’s mastery of Piaget’s “3 mountain task” or learning the referential communications skills to talk on the telephone effectively. Difficulty in acquisition of these skills have been reported in numerous studies of children with FASDs (for review see Kabel and Coles 2004; Kodituwakku 2009; Chasnoff et al. 2010). Throughout the school-age period, children acquire a wide variety of academic, social, and independence skills. Children at this age with an FASD can begin to have trouble with math skills, interacting appropriately with their peers, and/or planning their time. Each child’s pattern of strengths and weaknesses is likely to be very individualized. During adolescence and through adulthood, the pattern of deficits continues to be present. Lifelong consequences of those deficits can emerge, including mental health problems, inability to achieve independent living, and involvement in criminal activity (O’Connor and Paley 2009; Streissguth 1997). Although features (physical and behavioral) associated with FASDs do change across the life span and more information is becoming available about the nature of these changes, early identification, referral, and intervention remain a primary goal of the referral and diagnostic framework (Bertrand et al. 2004; Carmichael-Olson et al. 2009b; CDC 2005; Clarren et al. 2010). Unfor-

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tunately, studies of children with FASDs indicate that for most children the diagnosis is not recognized until the later school years, missing crucial years of neuroplasticity (Paley and O’Connor 2009; Olson et al. 2007). As for many developmental disorders, better outcomes are associated with earlier diagnosis and implementation of appropriate treatments (Carmichael-Olson et al. 2009b; Guralnick 1997; Lipkin and Schertz 2008; Streissguth et al. 1996). A further challenge for clinicians and interventionist regarding FASDs is that some associated behavioral or mental health difficulties may not present until after infancy or early school years, missing the period filled with more frequent well-baby visits and educational screening. Thus, for children with risk factors or history of prenatal exposure to alcohol, continuous screen for emerging issues is essential for identifying these disorders or comorbidities as early as possible to provide intervention or treatment.

12.3.5.2 The Need for Multidisciplinary Approaches As can be seen in the previous section, disorders resulting from in utero exposure to alcohol represent a collection of medical and behavioral disorders that could involve a large variety of professions in making the diagnosis, developing an intervention plan, and providing treatment. The National Task Force on Fetal Alcohol Syndrome and Fetal Alcohol Effect proposed a framework to help guide the identification, referral, diagnosis, and treatment of children with an FASD (Bertrand et al. 2004; CDC 2005). This framework is illustrated in Fig. 12.2. While it is anticipated that all children who might have a medical or developmental disorder would be covered under the general parameters of this framework, professionals across a wide variety of disciplines have roles essential for children with an FASD to be identified, diagnosed, and treated. No single profession encounters all these children or meets all of their needs. As reflected in Fig. 12.2, initial recognition that a child or older individual has a potential problem can come from many sources. Often, parents notice differences between a child and

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Caregiver-iniated Provider Contact Child presents for office visit. Triggers emerge from contact: developmental problems, facial abnormalies associated with FAS, growth delay, or maternal alcohol use

Complete inial evaluaon to gather specific data related to the four FAS criteria: facial malformaons, growth abnormalies, neurodevelopmental concerns, and maternal alcohol use.

Refer to Specialist for further assessment

Yes

Diagnosis

Services

FAS Diagnosis confirmed using dysmorphic and anthropometric assessment procedures along with appropriate neurodevelopmental evaluaon data.

The Intervenon plan is communicated to frontline providers, caregivers, and child with ongoing exchange with the intervenon team.

FAS Referral Criteria met?

No Connue to monitor changes in child’s health over me

An Intervenon plan is developed using a muldisciplinary team approach.

A case management plan is iniated at the community level based on recommendaons from the intervenon team (i.e., specialty services, community and educaonal resources.)

Fig. 12.2 Framework for Fetal Alcohol Syndrome (FAS) diagnosis and services

his or her siblings or playmates. School systems, including Head Start and daycare staff, interact with a large number of children and often recognize delays in motor, social, or cognitive skills. Social service professionals, such as WIC clinic staff, social workers, and foster care agencies frequently recognize children and individuals having difficulty with learning, behavior, or navigating rules and thus needing evaluation. Health care providers (particularly pediatricians) often are the first to screen for and detect developmental problems. Obstetricians, who might be aware of a maternal substance abuse problem, might refer a newborn. Recognition of many of the problems associated with FASDs is exactly the type of condition the “well-child” visits to the doctor’s office are meant to identify. It is assumed that triggers, such as facial abnormalities, growth retardation, developmental problems, or maternal alcohol use, will emerge from the contact. Other professionals should also identify problems through entry evaluations into services, school programs, and other developmental or recreational activities. Recognition of a potential problem should lead the provider, regardless of specific profession, to facilitate getting the person and his or her family to the appropriate next steps for evaluation and diagnosis.

The referral process starts at the point a clinician suspects an alcohol-related disorder for a child. This process is facilitated by a working knowledge of the physical and neurodevelopmental domains affected in individuals with FAS, as well as characteristics that may indicate the need for a referral. In making a referral for a complete diagnostic evaluation for FAS, it is helpful for the referring provider to gather and document specific data related to the FAS diagnostic criteria. These data will assist the provider in making the decision to more extensively evaluate the child for diagnosis or to refer the child to a multidisciplinary evaluation team for a confirmed diagnosis. In addition, these data could be forwarded to the multidisciplinary evaluation team to guide the diagnostic process if a child’s own pediatrician or primary care provider does not complete the diagnostic evaluation himself or herself. A complete review of systems, noting features consistent with FAS, would be most helpful. During a diagnostic evaluation, a multidisciplinary team would engage in a more thorough assessment of the child using FAS diagnostic procedures to evaluate dysmorphia and growth parameters, as well as obtain appropriate neurodevelopmental evaluation data. Once a diagnosis is made, an intervention plan would be devel-


oped using a multidisciplinary team approach. A variety of specialists could contribute to the multidisciplinary team, including dysmorphologists, developmental pediatricians, psychiatrists, psychologists, social workers, and educational specialists. Primary care providers, such as pediatricians and family practitioners, would be involved for not only routine medical care and keeping a medical home, but might see the child more often for things like otitis media or seasonal colds/influenza since prenatal alcohol exposure might negatively affect immune functioning (Jerrells and Weinberg 1998). Specialists also might be involved. For example, an ophthalmologist to address strabismus or a neurologist to treat and monitor seizure disorders, which are more prevalent in this population (Bell et al. 2010). Education and social service professionals might be involved in several aspects of the child’s treatment and family life or development. We discuss the role of these professionals in more depth in a subsequent section. The wide range of disciplines involved with the care and treatment of children with FASDs highlights the importance of providing education regarding this disorder. However, identification, referral, and care for individuals with an FASD is not within the routine scope of practice for many disciplines (FASD Regional Training Centers Consortium 2007). US Congressional language in 2002 directed CDC, acting through the National Center on Birth Defects and Developmental Disability’s Fetal Alcohol Syndrome Prevention Team and in coordination with the National Task Force on Fetal Alcohol Syndrome and Fetal Alcohol Effect, to: (a) develop guidelines for diagnosing FAS and other negative birth outcomes resulting from prenatal exposure to alcohol, (b) incorporate these guidelines into curricula for medical and allied health students and practitioners and seek to have these curricula fully recognized by professional organizations and accrediting boards, and (c) disseminate curricula to and provide training for medical and allied health students and practitioners regarding these guidelines. As part of this initiative, in 2002, CDC funded four FASD Regional Training Centers to develop, implement, and evaluate educational

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curricula for medical and allied health students and practitioners. As of this publication, 5 centers are currently funded: Artic Region (includes Alaska); Frontier Region (includes Nevada, Utah, Colorado, Wyoming, Idaho, Montana, and North Dakota); Midwest Region (includes Missouri, Arkansas, Illinois, Iowa, Nebraska, Kansas, and Oklahoma); Great Lakes Region (includes Wisconsin, Michigan, Indiana, Ohio, Minnesota, and North Carolina); and Southeast Region (includes Tennessee, Georgia, Kentucky, South Carolina, Florida, Alabama, Mississippi, and Louisiana). Additional information on each center, including contact information, can be found at www.cdc. gov/ncbddd/fasd/training. An essential aspect of the centers’ mandate is that they not only conduct ongoing professional education, but also work to secure FASD-related content on licensing and accreditation examinations. To this end, a comprehensive medical and allied health curriculum development guide was created with seven health education competencies (FASD Regional Training Centers Curriculum Development Team 2009): 1. Demonstrate knowledge of the historical background of fetal alcohol syndrome (FAS) and other disorders related to prenatal alcohol exposure, known collectively as fetal alcohol spectrum disorders (FASDs). 2. Provide services aimed at preventing alcoholexposed pregnancies in women of childbearing age through screening and brief interventions for alcohol use. 3. Apply concepts and models of addiction to women of childbearing age, including those who are pregnant, to provide appropriate prevention services, referral, and case management. 4. Describe the effects of alcohol on the developing embryo and fetus. 5. Screen, diagnose, and assess infants, children, adolescents, and adults for FAS and other prenatal alcohol-related disorders. 6. Provide long-term case management for persons with FASDs. 7. Recognize ethical, legal, and policy issues related to FASDs.

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In addition, educational trainings conducted by each of the Regional Training Centers focus not only on increasing basic knowledge about FASDs, but also initiating and/or improving practical clinical skills, such as interviewing/ screening women for alcohol use and talking to parents about behaviors that might be relevant for an FASD diagnosis (FASD Regional Training Centers Curriculum Development Team 2009). An important aspect of the trainings provided by the FASD Regional Training Centers is that they seek to include not only medical professionals, but are inclusive of a wide range of allied health professionals, including early interventionists, speech-language pathologists, occupational/ physical therapists, nurses/nurse practitioners, social service agencies, public health workers, social workers, and correctional health professionals. Although increased training specific to FASDs and corresponding increased awareness across disciplines will certainly improve the flow across the presented diagnostic framework, other efforts also could improve the networking and integration across disciplines. The National Taskforce on Fetal Alcohol Syndrome/Fetal Alcohol Effects has outlined several steps that could improve communication, cooperation, and efficiency of care for children with FASDs, including: modification of provider reimbursement codes and procedures to be consistent across disciplines and ensure appropriate services are covered, making service eligibility requirements reflect the nature of the disorder, include FASD information in continuing education efforts for all disciplines, promote routine screening for family alcohol abuse in all critical systems of care, and increase awareness of FASDs at the national level (Carmichael-Olson et al. 2009a).

12.4 Treatment and Intervention Diagnosis is never an endpoint for any individual with a developmental disability and his or her family. This is particularly true for individuals with a condition along the FASD continuum, their families, and their community. As described


in the framework section, an FASD diagnosis and the diagnostic process (especially the neuropsychological assessment) are part of a continuum of care that identifies and facilitates appropriate health care, education, and community services. The learning and life skills affected by prenatal alcohol exposure vary greatly among individuals, depending on the amount of alcohol exposure, and the timing and pattern of exposure, as well as each individual’s current and past environment (Carmichael-Olson 2002; Abel 1998; Warren and Hewitt 2009). As a result, the services needed for individuals with FAS and their families vary according to what parts of the brain have been affected, the age or level of maturation of the person, the health or functioning of the family, and the overall environment in which the person is living. Thus, service needs will vary greatly and must be tailored to each individual and his or her family (Davis 1994). Despite the individualized service requirements, some general areas of service and specific services have been identified as helpful to people with FAS and their families (Streissguth 1997). While the ideal circumstance are services and interventions that have been specifically developed for individuals with FAS and their effectiveness established through rigorous scientific evaluation, such programs are only now being researched and developed. Thus, most evidence for the benefit of services has been gleaned from research with other populations of children with developmental disabilities or chronic conditions, clinical wisdom, and family experiences. These three sources have drawn heavily from information obtained concerning risk and protective factors that have been found through systematic research, using qualitative methodologies, to promote positive development or reduce the incidence of negative longterm consequences of FAS (i.e., reduce secondary conditions; Streissguth and Kanter 1997; Streissguth et al. 2004). FASDs have often been described as “hidden” or “invisible” disabilities because of the good basic language skills (e.g., vocabulary and syntax) and subtlety (or lack) of the dysmorphia of many affected individuals. These factors lead to individuals with FAS


being treated inappropriately because of unrealistic developmental expectations of caregivers, educators, or social service providers. FAS might be either not recognized or mislabeled as stubbornness or misbehavior by a caregiver, or others who encounter the individual (e.g., teachers, extended family, and friends).

12.4.1 Medications At present, there are no medications specifically approved for the treatment of FASDs. However, several classes of medications are routinely prescribed to address common symptoms, negative behaviors, or other concerns for individuals with an FASD. Because children often see many professionals before receiving an FASD diagnosis, they might present with multiple medications prescribed by multiple providers (with or without communication among providers). As a first step, it is important to evaluate the appropriateness, impact, and potential interactions of these medications. Second, monitoring medication use is essential since individuals with FASDs often encounter multiple caregivers, chaotic living situations, developmentally changing behavior patterns, and negative side effects of medications (Wozniak et al. 1997). Attention problems are the most common behavior disorder treated by medication in children (Doig et al. 2008). Research has demonstrated mixed results for use of stimulant medications for attention problems of individuals with an FASD. Doig et al. (2008) found slight improvement for symptoms of hyperactivity and opposition/ defiance, but no improvement for inattention. Furthermore, researchers have found no difference in performance or improvement for children with an FASD on stimulant medications compared to children with an FASD who were not taking stimulant medication (Frankel et al. 2006; Snyder et al. 1997). Depressive symptoms in children, including children with developmental disabilities such as FASDs, have been reported to be similar to those of adults with sad mood or affect, loss of interest, and sleep problems. In addition, for children, de-

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pression often includes school disruption, negativity, irritability, aggression, and antisocial behaviors (Bostic et al. 1997). Selective serotonin reuptake inhibitors (SSRIs) are often prescribed to children with an FASD (Meyer and Quenzer 2005). However, specific research on the efficacy of SSRIs for depressive symptoms in children or adults with an FASD is not available. Such research would provide important clinical information for this population. Psychotic symptoms are not associated with FASDs. However, neuroleptics are prescribed to children with developmental disabilities, including FASDs, to address aggression, anxiety, or behavior regulation (Feldman et al. 1997). However, anxiety disorders among children are more common than previously thought with many psychiatric conditions actually having their basis in anxiety (e.g., conduct disorder; Costello et al. 1996). Infants with prenatal alcohol exposure are more likely to exhibit attachment anxiety than children without prenatal alcohol exposure (O’Connor et al. 2002). Furthermore, approximately one-fifth of school-aged children and adults with prenatal alcohol exposure meet diagnostic criteria for an anxiety disorder (Fryer et al. 2007; Famy et al. 1998). Thus, medications to address symptoms of anxiety may be prescribed to children or adults with an FASD. However, as with most psychiatric medications, data on the efficacy and effectiveness of these drugs for the population of individuals with FASDs are not available. Well-designed and conducted studies on specific medications are needed. Finally, many children, adolescents, and adults with developmental disabilities, including those with an FASD, are prescribed multiple medications, anecdotally referred to as “cocktails.” Such multiple prescriptions can result from patients’ failure to disclose current medications, lack of communication across providers, or failing to discontinue medications that are not effective or no longer appropriate. The patient, parent, education, and medical communities are becoming increasingly concerned about multiple medications and their possible negative effects. Furthermore, research into drug therapies do not assess the use

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of multiple drugs simultaneously, thus their interactional effects have not been studied. When new medications are considered, it is important to fully review the need and effectiveness of current medications and possible drug interactions before adding to the “cocktail” (Feldman et al. 1997).

12.4.2 Behavioral Treatments Until recently, behavioral treatments and interventions for individuals with FASDs have not been evaluated systematically or scientifically. In general, helpful interventions should be developed working with educational staff or therapists, and working with social services (e.g., foster care) to determine individualized treatment plans. Stable home environments have been shown to be important (Carmichael-Olson et al. 2009b). In addition to educational services, several specific interventions adapted for children with an FASD have been studied and shown effective. Project Bruin Buddies assessed a social skills training program to improve peer friendships for children with an FASD. Researchers found that after controlling for covariates, children with an FASD in a 12-week children friendship training group showed statistically significant improvement in their knowledge of appropriate social behavior as compared to control children who also were diagnosed with an FASD but had not yet received the social skills training (O’Connor et al. 2006). The Georgia Math Interactive Learning Experience (MILE) Program demonstrated effectiveness of adaptive materials and tutoring methods to improve math knowledge and skills in children with FASDs, compared to control children with an FASD (Kabel et al. 2007). Although not a commonly cited area of deficit among individuals with an FASD, Adnams et al. (2007) demonstrated improved literacy and language skills in a South African population with FASDs. Using a computer-based format, effective programs for teaching children with an FASD safety skills such as street crossing and fire safety have been developed (Coles et al. 2007).


Executive functioning is a particularly important area in need of intervention for individuals with an FASD since these skills cut across many other domains of functioning and have a very direct impact on daily living. Using the ALERT program (Williams and Shellenberger 1996; Bertrand and Interventions for Children with Fetal Alcohol Spectrum Disorders Research Consortium 2009), researchers in Chicago have demonstrated improvement in behavior regulation and executive function in children with an FASD, compared to control children with an FASD who did not receive the intervention based on the ALERT program. In another intervention to improve aspects of executive functioning, Loomes et al. (2008) taught rehearsal strategies and other memory techniques to children with an FASD to improve working memory skills. Finally, in Seattle, the researchers have used an intensive 9-month individualized parent therapy program to improve parent effectiveness and reducing clinically significant behavior problems in school-age children with an FASD (Carmichael-Olson et al. 2009a). A major implication of these research studies for families dealing with FASDs is that they now have available tested interventions that can address their children’s needs and that can be presented as scientifically validated and efficacious to service systems, such as schools, social services, or mental health providers. Development and validation of a large number of interventions and treatment approaches is essential in providing services to individuals with an FASD because they might have a wide range of problems or deficits depending on the specificity of their own neurocognitive profile. There are two basic ingredients that seem important across successful interventions for individuals who have an FASD. First, parent education or training seems to provide a necessary backdrop to intervention delivery and accommodations needed to ensure success of learned skills. Such education typically provides parents with increased knowledge about FASDs and how the associated brain damage alters their child’s way of learning or interacting with the world. Parent education also provides parents with training on how to advocate for their child in medical and


educational systems, allowing skills learned during specific interventions to be incorporated into to the child’s daily life. A second important component is explicit intervention with the children. Children with an FASD demonstrate a good capacity to learn new skills, however, because of underlying neurological impairment, must do so through explicit instruction rather than through observation and a process of abstracting rules, skills, and knowledge from ongoing situations as do children who are developing typically.

12.4.3 Family Issues Families with a child, adolescent, or adult with an FASD face tremendous and unique challenges. By definition, the substance use, misuse, or abuse are part of the current or previous family dynamic. Research and clinical wisdom have consistently reported that children with an FASD are more likely to be involved with child protective services, foster care, or being raised in adoptive homes (Streissguth et al. 1996; Bertrand et al. 2004; Carmichael-Olson et al. 2009b). One study estimated that the prevalence of children with FAS (or a related disorder) in the foster care system is 10 times that of the general population (Astley et al. 2002). Adoptive families, especially families who adopt internationally, may have additional issues to contend with. In addition to cross-cultural issues, children from such adoptions may be at increased risk for several medical conditions, especially an FASD if the child comes from a region with high alcohol consumptions such as Eastern Europe or South Africa (Hostetter et al. 1989; Robert et al. 2009; University of Minnesota 2010). The CNS damage from in utero exposure to alcohol combined with adverse life events associated with increased risk of negative life consequences may lead to an additive or even compounded situation with outcomes worse for these individuals than would be predicated from their FASD disability alone (Coggins et al. 2007). Programs and interventions addressing the needs of a child with an FASD within the context of family situations are greatly needed (Henry et al. 2007).

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Likewise, when caring for an individual with an FASD, medical and allied health professionals should assess and address the physical, mental, and social health of the whole family (Mitchell et al. 2009). One particular area of family functioning that has been identified and is receiving more research attention is parental stress. Increased parental stress for families with a child who has an FASD has been reported in several research studies. The elevated levels of stress are even greater for these caregivers than would be predicted from just having a child with a disability (such as idiopathic intellectual disability), limited family resources (such as poverty), or other family characteristics (such as substance abuse; CarmichaelOlson et al. 2009b; Paley et al. 2005; Paley et al. 2006). Most concerning is that higher levels of parental stress are associated with poorer child outcomes such as behavior problems (Paley et al. 2005), decreased adaptive functioning, and impaired executive functioning (Paley et al. 2006). An emerging area of interest is the role of siblings. First, siblings of an individual with an FASD are at very high risk of having an FASD themselves, either because they have the same biological mother who drank during pregnancy or are adopted from high-risk settings (Kvigne et al. 2003; Kvigne et al. 2009). Thus, it is important to assess all family members during the identification, evaluation, and diagnostic processes. Even unaffected siblings of individuals with an FASD encounter special challenges. Like all siblings of a person with a disability, during childhood and adolescence they might struggle with understanding why their sibling thinks and acts differently or has trouble learning things that come easily to most peers. This can bring an added dynamic to the typical sibling rivalry or maturity issues all families face (Streissguth 1997; see Winokur 2009 for personal account). The impact of having a sibling with an FASD is an area, which needs a great deal of scientific research, both how the sibling is affected and how the sibling can mitigate negative consequences for the individual with an FASD. Several protective factors have been identified that may reduce long-term negative outcomes

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in children with FASDs (protective factors), including a stable and nurturing home environment during the school years, early diagnosis (before 6 years of age), absence of exposure to violence, few changes in caretaking placements, and eligibility for social and educational services (Streissguth et al. 1996; Carmichael-Olson et al. 2009b). Although specific research is not available, children and families with a “medical home” also would be expected to have improved outcomes because of early identification, early intervention as problems arise, and increased preventative care. Interventions and services that maximize these protective factors while reducing risk factors will provide the best benefit to anyone with FASDs and improve their chances of achieving their developmental potential (Streissguth et al. 1996; Carmichael-Olson 2002). Access to programs and interventions that can promote these protective factors has been difficult for families who have a member living with an FASD. This challenge in accessing appropriate services was echoed directly during a series of town hall meetings conducted by the SAMHSA in 2002–2003. With over 500 participants testifying, the two primary needs identified were: (1) respite care and (2) greater understanding of FASDs and support for families by various systems of care such as education, mental health, substance abuse treatment, criminal justice and legal systems, vocational programs, health care, and income programs such as medical assistance and Social Security (FASD Center for Excellence 2004; Ryan et al. 2006).

12.5 Magnitude of FASDs and Prenatal Exposure to Alcohol In the preceding sections, we have described the teratogenic effects of in utero alcohol exposure, presented major diagnostic features, and commented on appropriate treatment and intervention needs. However, many people working with children with special needs or children at risk might not realize the magnitude and impact of children with an FASD within their discipline. Because these disorders are grossly underdiagnosed (May et al. 2009), there are mistaken assumptions that this is a rare disorder and that education, early


intervention, and service providers are unlikely to encounter children with an FASD. Systematic surveillance and epidemiological studies indicate that this is not the case, and FAS, and certainly the full FASD continuum, more than likely occur at rates at or higher than other more commonly recognized disorders.

12.5.1 Prevalence Studies by CDC have reported prevalence rates from 0.2 to 1.5 cases meeting the case definition for full FAS per 1,000 live births across various populations (CDC 1997, 2002). Other studies reflecting a variety of ascertainment methodologies have produced estimates ranging from 0.5 to 2.0 cases per 1,000 live births (Cordero et al. 1994; May and Gossage 2001). A few very recent studies, which used active screening of grade school children, have produced prevalence estimates as high as 2–11 cases per 1,000 children in the United States and other western countries (May et al. 2009). Such rates are comparable with or above other common developmental disabilities such as Down syndrome or spina bifida (Mirkes 2003; Shin et al. 2010). Using the CDC FAS estimates, among the approximately four million infants born each year, an estimated 800–6,000 will be born with FAS annually. Studies of particularly vulnerable populations yield prevalence estimates that far exceed those of other common disabilities. Disadvantaged groups, American Indians, and other minorities have rates as high as 3 to 10 cases of FAS per 1,000 children (Egeland et al. 1998; May et al. 1983; May et al. 2009). Available data also suggest that poverty is strongly associated with women’s alcohol use before and during pregnancy, leading to an excess of children with FAS among impoverished groups (Abel and Hannigan 1995; Abel 1995; May et al. 1983). Finally, particularly high prevalence of children with FAS also has been found among children in the foster care system (Astley et al. 2002). It should be noted that these prevalence estimates focus on children meeting all diagnostic criteria for the full fetal alcohol syndrome. Prevalence estimates for the entire spectrum range from 3


to 10 times those of the full syndrome (Stratton et al. 1996).

12.5.2 Exposure Monitoring The magnitude of the problem is even greater when the risk of FAS and other FASDs is considered by looking at the rate of alcohol-exposed pregnancies. In the United States, 12% of pregnant women report consuming any alcohol and between 2 and 4% report binge drinking in the past 30 days (Denny et al. 2009). Risk of an alcohol-exposed pregnancy is an important topic, even for women who currently are not pregnant, since approximately half of all pregnancies are unplanned (Finer and Henshaw 2006). More than half of all women of childbearing age (18–44 years of age) report some alcohol use and one in eight reports binge drinking in the past 30 days (Denny et al. 2009). Many of these women are sexually active and are often not taking effective measures to prevent pregnancy. Thus, these women are at high risk for an alcohol-exposed pregnancy as they might continue drinking early in pregnancy at levels that are harmful to the fetus before knowing they are pregnant (Floyd et al. 1999). Current prevalence estimates of FAS (and FASDs) as well as alcohol consumption among women of childbearing age (including pregnant women) indicate that the magnitude of the problem is of significant public health concern. Even with these estimates, the full scope of FASDs may be underappreciated, since estimates may fall far short of the true prevalence due to several challenges that exist for establishing accurate and timely prevalence information. Conducting routine surveillance to establish prevalence rates is very labor intensive (regardless of method) thus making them expensive, time consuming, and only feasible to conduct on a periodic basis. Other challenges include lack of documentation of features or prenatal alcohol exposure in records, lack of access to mother or reliable exposure information, changes across development, misconceptions among professionals that FASDs occur only among children of alcoholics, etc. (Bertrand et al. 2004; May

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et al. 2009). The full magnitude of the entire spectrum of FASDs is still to be determined. As a result, primary care providers, early intervention staff, educators, and others who care for children represent important partners to both the diagnostic process and providing information to facilitate monitoring prevalence of these disorders as well as the maternal risk behaviors associated with them. Accurate estimates for prevalence of FASDs and maternal risk behaviors are essential in providing access to appropriate treatment and services, for child, mother, and their families.

12.6 Summary and Potential Policy Considerations In this chapter, we have reviewed several aspects of FASDs, including the structural and functional neurological abnormalities associated with alcohol as a teratogen, diagnostic criteria to recognize the wide spectrum of FASD disorders, as well as reviewed current research regarding effective interventions for those living with an FASD and their families. After a similar review of the literature-to-date in 2008, the National Task Force on Fetal Alcohol Syndrome and Fetal Alcohol Effect issued a culmination Call to Action report, which highlights recommendations to improve and expand efforts regarding early identification, diagnostic services, and quality research on interventions for individuals with an FASD and their families (Carmichael-Olson et al. 2009a). Several of their recommendations are still relevant. Further delineation of the harmful effects of in utero exposure to alcohol continues to be needed. Such research would include basic research on the adverse effects on brain structure and functioning, cognitive and behavioral implications, and epidemiological research identifying those at highest risk of having an FASD. Such basic research would naturally cascade into better clinical knowledge about children, youth, and adults with an FASD, facilitating early identification, diagnosis, and referral to treatment, an important step that needs more concerted research and policy attention (Ismail et al. 2010). Another high-priority research area is studies to better understand the

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relative characteristics (cognitive, developmental, and social) of all individuals with an FASD, commonly referred to as the behavioral phenotype. More specific and comprehensive understanding of this neurodevelopmental phenotype would provide the foundation for development or adaptation of additional treatments and interventions that specifically address the unique needs and challenges facing those living with an FASD. In addition to research, changes in public policies, systems, and attitudes are needed. To promote a comprehensive and accessible continuum of care for all individuals with an FASD, eligibility requirements to educational opportunities and social services must be modified to reflect that individuals with an FASD might not meet current cutoff requirements on standardized tests, yet still require supports and specialized interventions (Carmichael-Olson et al. 2009a). Public policies also should reflect the individualized nature of disability observed for persons with FASDs as well as the wide range of presentations. Development and refinement of private and professional policies would benefit from concerted efforts to provide or promote education about FASDs. Finally, steps are needed to address the family-wide impact of FASDs. By strengthening families and caregivers through education, advocacy, and programs there will be not only benefit to individuals living with an FASD, but also families and communities at large. Over 40 years ago, medical researchers first described the adverse impact of in utero exposure to alcohol known today as fetal alcohol spectrum disorders. In that time, much has been learned about the disorders, medical advances in diagnosis have been made, and early research into treatment and interventions specifically tailored to this group have been initiated. It is also evident that much more remains to be learned and programs initiated and strengthened to better promote the prevention, identification, and treatment of FASDs.

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12 Fetal Alcohol Spectrum Disorders: Review of Teratogenicity, Diagnosis and Treatment Issues Roebuck, T. M., Simmons, R. W., Richardson, C., Mattson, S. N., & Riley, E. P. (1998). Neuromuscular responses to disturbance of balance in children with prenatal exposure to alcohol. Alcoholism, Clinical and Experimental Research, 22, 1992–1997. Roebuck, T. M., Mattson, S. N., Riley, E. P. (1999). Behavioral and psychosocial profiles of alcoholexposed children. Alcoholism, Clinical and Experimental Research, 23, 1070–1076. Ryan, D. M., Bonnett, D. M., & Gass, C. B. (2006). Sobering thoughts: Town hall meetings on fetal alcohol spectrum disorders. American Journal of Public Health, 96, 2098–2101. Shin, M., Besser, L.M., Siffel, C., Kucik, J.E., Shaw, G.M., Lu, C., Correa, A., and the Congenital Anomaly Multistate Prevalence and Survival Collaborative. (2010). Prevalence of Spina Bifida among children and adolescents in 10 regions in the United States. Pediatrics, 126(2), 274–279. Snyder, J., Nanson, J., Snyder, R. E., & Block, G. (1997). A study of stimulant medication in children with FAS. In A. Streissguth, & J. Kanter, (Eds.). Overcoming and preventing secondary disabilities in fetal alcohol syndrome and fetal alcohol effects (pp. 64–77). Seattle: University of Washington Press. Sowell, E. R., Mattson, S. N., Thompson, P. M., Jernigan, T. L., Riley, E. P., & Toga, A. W. (2001). Mapping callosal morphology and cognitive correlates: Effects of heavy prenatal alcohol exposure. Neurology, 57, 235–244. Sowell, E. R., Johnson, A., Kan, E., Lu, L. H., Van Horn, J. D., Toga, A. W., O’Connor, M. J., & Bookheimer, S. Y. (2008). Mapping white matter integrity and neurobehavioral correlates in children with fetal alcohol spectrum disorders. Journal of Neuroscience, 28, 1313–1319. Steinhausen, H. C., Nestler, V., & Spohr, H. L. (1982). Development of psychopathology of children with the fetal alcohol syndrome. Journal of Developmental and Behavioral Pediatrics, 3, 49–54. Stratton, K., Howe, C., & Battaglia, F (Eds.) (1996). Fetal alcohol syndrome: Diagnosis, Epidemiology, Prevention, and Treatment. Washington, DC: Institute of Medicine, National Academy Press. Streissguth, A. P. (1997). Fetal alcohol syndrome: A guide for families and communities. Baltimore: Paul Brookes. Streissguth, A., & Kanter, J (Eds.) (1997). The challenge of fetal alcohol syndrome: Overcoming secondary disabilities. Seattle: University of Washington Press. Streissguth, A. P., Barr, H. M., Sampson, P. D., ParrishJohnson, J. C., Kirchner, G. L., & Martin, D. C. (1986). Attention, distraction, and reaction time at age 7 years and prenatal alcohol exposure. Neurobehavioral Toxicology and Teratology, 8, 717–725. Streissguth, A. P., Barr, H. M., Kogan, J., Bookstein, F. L. (1996). Understanding the occurrence of secondary disabilities in clients with fetal alcohol syndrome (FAS) and fetal alcohol effects (FAE): Final

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Newborn Screening for Congenital Disorders in Routine and Research

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Bent Nørgaard Pedersen and David Michael Hougaard

Abstract

Newborn screening (NBS) for the congenital disorders phenylketonuria (PKU) and congenital hypothyroidism (CH) using dried blood spot samples (DBSS) started in the 1960s and 1970s. Since then significant technological advances in laboratory testing using tandem mass spectrometry (MSMS) and genotyping technology have made it possible to screen for an expanding number of serious congenital disorders. At the same time, new possibilities of efficient treatment have emerged making it of utmost importance to recognize the disorders as early in life as possible. New exciting research possibilities are now also possible using DBSS from NBS biobanks and recently developed multianalyte techniques. The purpose of this chapter is to present some of this progress in routine and research based on primarily Danish experience, including focus on legal, ethical, and practical aspects. Abbreviations

ACMG American Council of Medical Genetics CH Congenital Hypothyroidism CLSI Clinical Laboratory Standard Institute DBSS Dried Blood Spot Samples LIMS Laboratory Information Management System MSMS Tandem Mass Spectrometry NBS Newborn Screening PKU Phenylketonuria

B. N. Pedersen () · D. M. Hougaard Section of Neonatal Screening and Hormones, Department of Clinical Biochemistry and Immunology, Statens Serum Institut, Artillerivej 5, 2300 Copenhagen S, Denmark e-mail: [email protected] D. M. Hougaard e-mail: [email protected] D. Hollar (ed.), Handbook of Children with Special Health Care Needs, DOI 10.1007/978-1-4614-2335-5_13, © Springer Science+Business Media New York 2012

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QA Quality Assurance T4 Thyroxine TSH Thyroid Stimulating Hormone UK-NSC United Kingdom National Screening Committee

13.1 Introduction The purpose of newborn screening (NBS) is essentially to identify newborns with serious congenital disorders so that early treatment can be implemented and serious adverse outcome prevented. The biochemical screening is based on the analysis of a few drops of capillary blood collected and dried on a special filter paper. For children and newborns with special health care needs, it is important to ensure that NBS for congenital disorders is performed as carefully as possible, e.g., that the dried blood spot samples (DBSS) are taken and examined several times during the neonatal period. Newborns referred to special care baby units or neonatal intensive care units due to low birth weight, preterm birth, or illness should all have special attention concerning NBS. The scope of this chapter is to describe NBS that identifies inborn errors of metabolism, hormonal defects, and other disorders by means of testing shortly after birth. The Danish NBS program will be described as an example of a routine program with emphasis also on related research and the use and regulations for the Danish NBS biobank now containing 2 million samples that DBSS stored since 1982 (Norgaard-Pedersen and Hougaard 2007). Exciting developments with genotyping methods and new multiplex technologies will also be described making the future possibilities for NBS almost unlimited.

13.2 History of Newborn Screening (NBS) NBS was introduced in the early 1960s by Guthrie (Guthrie and Susi 1963) using a filter paper bacterial inhibition assay (phenylalanine assay)

B. N. Pedersen and D. M. Hougaard Table 13.1 History of NBS 1960–1963: Screening for PKU by filter paper bacterial inhibition assay (Guthrie) for Phenylalanine 1975: Screening for CH by T4 or TSH 1980–1990: Screening for other congenital disorders such as congenital adrenogenital syndrome (CAH), cystic fibrosis (CF), galactosemia (GAL) sickle-cell anaemia (SCA), and biotinidase deficiency 1990–2010: Screening for amino acid, organic acid and fatty acid disorders by MSMS analyses and screening for severe combined immune deficiencies (SCID) by DNA analysis

in screening newborns for phenylketonuria (PKU). The PKU infants were treated with lowPhenylalanine diet and mental retardation could almost be prevented. The DBSS that were easy to collect and mail to a central laboratory could also be used for screening for other diseases and in 1975 Dussault et al. described a mass screening program for congenital hypothyroidism (CH) using thyroxine (T4). A few years later, Illig et al. (1977) showed that thyroid stimulating hormone (TSH) was also a reliable alternative. As shown in Table 13.1, NBS for several other congenital disorders was introduced in the period 1980–1990 (Pang et al. 1982; Crossley et al. 1979; Wolf and Heard 1991; Beutler 1991). However, the real breakthrough came in the 1990s when tandem mass spectrometry (MSMS) was introduced in screening simultaneously for amino acid, organic acid, and fatty acid disorders (Millington et al. 1990). This multiplex technology together with the fact that DNA could be extracted and analyzed from DBSS opened a new exciting era of NBS (McCabe et al. 1987). For a more extensive history of NBS, see also the review by Therell (2010).

13.3 Current Screening Programs 13.3.1 Guidelines The classic screening criteria for early disease detection by population Screening are described in the World Health Organization (WHO) principles by Wilson and Jungner in 1968 (Table 13.2). Although this report is not specific

13 Newborn Screening for Congenital Disorders in Routine and Research Table 13.2 Principles of early disease detection. (Source: Wilson and Jungner 1968) The condition sought for should be an important health problem There should be an accepted treatment for patients with recognized disease Facilities for diagnosis and treatment should be available There should be a recognizable latent or early symptomatic state There should be a suitable test or examination The test or examination should be acceptable to the population The natural history of the condition, including development from latent to declared disease, should be adequately understood There should be an agreed on policy as to whom to treat as patients The cost of case finding (including diagnosis and treatment of patients diagnosed) should be economically balanced in relation to possible expenditure on medical care as a whole Case finding should be a continuing process and not a “once and for all” project

for NBS PKU screening is mentioned, and most of these criteria are taken into consideration defining national NBS guidelines. For example, in the Danish guidelines from 2008 for “Biochemical Screening for Congenital Diseases in Newborns,” the NBS criteria are summarized as follows: 1. The disease should be serious, i.e., severe mental retardation (PKU). 2. There should be an effective treatment. 3. Early treatment is important for prevention of disease. 4. The disease is not clinically evident at birth. 5. A reliable test for NBS should be available (high detection rate and low false positive rate). 6. There should be possible prevention of early death. Furthermore, the benefit should be reasonably balanced against financial costs. These criteria for NBS are also similar to those described by the American Council of Medical Genetics (ACMG 2006), by the United Kingdom National Screening Committee (UK-NSC; Politt 2007), by the Genetic Society of Australia (Wilcken and Wiley 2008), and other countries.

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Table 13.3 Congenital disorders in the Danish NBS program Congenital hypothyreosis (CH) Congenital adrenal hyperplasia (CAH) Phenylketonuria (PKU) Maple syrup urine disease (MSUD) Medium-chain Acyl-CoA dehydrogenase deficiency (MCADD) Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) Very long-chain acyl-CoA dehydrogenase deficiency (VLCADD) Glutaric acidemia (type-1; GA-1) Multiple carboxylase deficiency (MCD) Carnitin transporter deficiency (CTD) Tyrosinemia (TYR) Argininosuccinyl-CoA lyase deficiency (ASL) Bionitidase deficiency (BIOT) Propionic acidemia (PA) Methylmalonic acidemia (MMA)

13.3.2 Programs in Different Countries In the United States, the ACMG has developed a uniform screening panel using 19 criteria and a scoring system. The final recommendations identified 29 primary target conditions and 25 secondary targets (ACMG 2006). The Danish NBS guidelines make use of the ACMG “facts sheets” for identifying core disorders to screen for. However, the scoring system is modified to be less technology driven and, therefore, only 15 diseases are included in the program (see Table 13.3). The Danish guidelines from 2008 also include the following recommendations: 1. Sample collection 48–72 hours after birth. 2. Premature newborns should have a second sample in week 32. 3. New information pamphlet to parents (see Sect. 13.3.3). 4. If screening is declined, a signed blank card should be mailed to the newborn. 5. Screening laboratory. Finally, a better follow-up should take place both short term and long term. In United Kingdom, the UK-NSC also used 19 criteria, but only recommended screening for PKU, CH, MCAD, and cystic fibrosis. In Germa-

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ny and The Netherlands, the primary screening targets are similar to the Danish program.

13.3.3 Information to Parents Consent from the parents is required for NBS tests. It is therefore important that parents are well informed before they take their decision. The staff performing the blood collection should explain about the test and its importance. A pamphlet describing in details all aspects of the screening program and what happened to surplus of the sample after testing should also be given. This should be available in relevant languages. See below as an example an extract of the English version of the Danish information pamphlet: Information on the Heel Prick Test A simple blood test is carried out 48–72 hours after birth to check whether your baby has any congenital disorders that may need urgent treatment. This blood test cannot be performed unless you, as parents, give your permission. If you say no, the test will not be carried out. • How is it done? A few drops of blood are collected on a filter paper card after pricking the skin on one of the baby’s heels. This rarely causes the baby any discomfort. • How important is this test for your baby? Even if a baby appears completely healthy at birth, he or she may, in rare cases, have a congenital disorder, such as a metabolic defect. As long as babies are still in the womb, they are protected by the mother’s metabolism. Disorders of this type therefore do not become apparent until after birth. The disorder may develop slowly as harmful metabolic products build up in the blood, or it may develop suddenly, in the form of metabolic crises that are potentially fatal for the baby. The longer treatment is delayed, the greater the risk for the baby dying or developing lasting mental or physical harm. For the baby’s sake, it is therefore very important to detect such a disease and start treatment as quickly as possible.

B. N. Pedersen and D. M. Hougaard

• What specific disorders are screened for? On the Statens Serum Institut website you will find a list of the rare congenital disorders currently screened for, and more detailed information on the individual disorders. If your baby has one of these disorders, you will be informed immediately and asked to bring your baby in for further examination and treatment at the local paediatric department, often in cooperation with the Kennedy Centre or the clinical genetics departments of Copenhagen University Hospital and Skejby Hospital Aarhus University. • How reliable is the test? As it is a “screening” test, in rare cases, results might be obtained that suggest a disorder is present when it is not, particularly in the case of premature babies. This will quickly become apparent in the more detailed examination that immediately follows. Nor can screening rule out all disorders. Firstly, it is not technically possible to screen for all congenital disorders, and secondly screening is carried out only for disorders for which early detection means better treatment options that benefit the baby. Other Information • What happens to the blood after the test has been performed? The sample will be kept frozen in locked and secure facilities in the Neonatal Screening Biobank at Statens Serum Institut. Storing the sample in a biobank means that the test can be repeated if there is any subsequent doubt about the diagnosis, or additional analyses can be performed that were not available at the time of birth. In rare cases, the sample has also proved important in the reliable identification of a person who is the victim of an accident, natural disaster, crime, etc., later in life. The aim is always to have an adequate sample for these purposes. Any surplus sample material, as in all other laboratories that analyze blood samples, is used in regular quality assurance and the development of new analytical methods. The biobank also serves as a national resource of great importance to medical research. Use

13 Newborn Screening for Congenital Disorders in Routine and Research

•

for research purposes, however, depends on the approval of a research ethics committee and the Danish Data Protection Agency. The biobank’s management committee must also approve this use. The individual blood sample is given a code number at Statens Serum Institut. Unauthorized individuals cannot therefore identify the source of the sample. Information on the child’s name, date of birth and birth weight and the length of the pregnancy, as well as the mother’s name and civil registry number, are kept separately from the sample itself. You decide what happens to the sample on behalf of your baby. If you do not want the sample to be used in medical research for ethically approved purposes, you can inform the tissue use registry of the Danish National Board of Health. You can find further information on this at www. sundhedsstyrelsen.dk/vaev, where you will also find an article entitled ’Your tissue, your choice’. If you do not wish the sample to be retained at all, you can write to the Section for Neonatal Screening, KBI, Statens Serum Institut and the sample will then be destroyed. Statens Serum Institut’s website www.ssi.dk/nyfoedte also has more detailed information on the Neonatal Screening Biobank.

13.4 Laboratory Procedures and Analysis 13.4.1 Sampling In most countries, the DBSS is usually taken as a heel prick blood sample 48–72 hours after birth at the local hospital or at home. The sample cards that also contain identification data together with demographic and clinical information are mailed to the central NBS Laboratory. Here, all samples are inspected and DBSS that are contaminated or contain insufficient blood volume are deemed unsuitable and new samples are requested. However, unsuitable samples are usually analyzed because a preliminary abnormal result may be

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valid. In Denmark, the DBSS and the affixed information card are both bar-coded and then separated. Data on the information card are scanned into a laboratory information management system (LIMS) and the card is stored in a locked archive. The bar-coded DBSS are processed by special equipment called a “puncher” that reads the bar code and then punches the required number of 3.2-mm disks from the blood spots into microtiter wells. One series of microtiter plates are prepared for each assay included in the screening. After the laboratory analyses are finished, surplus of the DBSS is stored in a separate locked freezer at −20°C.

13.4.2 Laboratory Methods Many analytical techniques are well established for use in a routine NBS laboratory including, colorimetric, enzymatic, or chromatographic assays, microbiological inhibition testing, and various immunoassays. Until the 1990s, most of these screening tests determined one analyte as a marker for a particular disorder. However, with the introduction of MSMS into screening programs a new era began and it became possible to determine many analytes, amino acids, and acylcarnitines, from a single 3.2-mm punch from a DBSS and thus screen for many disorders at the same time. Twelve of the 15 disorders screened for in Denmark is, for example, detected by MSMS analysis of a single 3.2-mm DBSS disk, whereas the three remaining disorders each require a separate disk and assay.

13.4.3 Cut-off Establishments and Quality Assurance (QA) Together with the suitability of the marker(s) for detecting a particular disorder and the quality of the analysis, the establishments of the cut-off values determine the efficiency of the NBS. A too high value may result in false negative tests and a too low value in unacceptable numbers of false positive tests, which stress the babies and parents and is a burden on hospital resources. NBS

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laboratories should thus participate in external quality assurance (QA) programs as described in Clinical Laboratory Standard Institute (CLSI) guidelines (CLSI 2006, 2007, 2008, 2010). The laboratory should demonstrate its analytical capabilities, the efficiency of the established cut-offs for disease markers, and also QA for the nonlaboratory screening components. Usually, the laboratory should be certified, i.e., ISO 17025 and have regular inspections by a certified agency. To be able to closely monitor the performance of the NBS and adjust if necessary, it is also important that the screening laboratory always receives feedback from the physicians who diagnose and treat babies that have been referred to them.

13.4.4 Clinical Laboratory Standard Institute (CLSI) In recent years, there has been more and more focus on all procedures involved in NBS environment in order to improve and fine-tune the whole process. Several guidelines have been published by CLSI after contribution from many international key persons involved in NBS (see CLSI 2006, 2007, 2008, 2010). These guidelines are certainly helpful as a template but may be modified according to local recommendations.

13.5 Archived Neonatal Blood Spot Samples 13.5.1 Storage Policy Storage policies for residual DBSS from NBS programs vary internationally and will not be reviewed here. Here, we will only as an example discuss the Danish NBS Biobank (NBS-Biobank) and register (Norgaard-Pedersen and Hougaard 2007). For nearly 30 years (since 1982), residual DBSS from the national NBS have been stored in a biobank at − 20°C. The storage has taken place according to regulations from The Ministry of Health in 1993 and also according to newer


guidelines for the establishment and operation of biobanks in general. Latest regulations on biobanks published in September 2004 as guidelines from the Ministry of Health are very similar to the previous regulations. The claims are: 1. The biobank and register must be registered and accepted by The Danish Data Protection Agency (www.datatilsynet.dk) with information about purpose, operation, data-responsible authority, biobank responsible person, etc. ( Act on processing of personal data). 2. According to Act on patient’s right. This law concerns “self-determination” for a clinical biobank concerning informed consent and the right to “opt out,” to “destruction” or to “retrieval” of the biobank material. 3. Procedure for use of biobank material for research must always be accepted by the Scientific Ethical Committee System according to Act on Scientific Committee (www.cvk.sum. dk/cvk/home/english). 4. According to Act on Health the Biobank, responsible person(s) is/are responsible according to general rules for health care personal concerning secrecy confidentiality, etc. Complaint concerning biobanks can be directed to The Health Care Patients Complaints Authority, Danish National Board of Health. Before the blood is collected, the parents are informed about storage of surplus of the DBSS by local health professionals and through the pamphlet as described in Sect. 13.3.3). The NBS-Biobank has been included in the accreditation ISO 17025 of the screening laboratory since 1998. The yearly inspection by Danish Accreditation Authority (DANAK) ensures that the biobank lives up to this certification concerning traceability, documentation, QA, etc. The Biobank Regulations implement the EU-directive 95/46/EC on the protection of individuals with regard to the processing of personal data and on the free movement of such data. In 2005, a Steering Committee for scientific use of the NBS-Biobank was set up with the main purpose of administering the use of the samples for research. Since the stored DBSS contain only a very limited amount of blood, the further use


after routine neonatal screening has to be prioritized to ensure that enough blood is left to serve the most important purposes, which are: 1. First priority is the analyses of DBSS for the benefit of child and family. 2. Second priority is the development of new methods for NBS analyses. 3. Third priority is the research projects. The Committee was founded as a request from the Danish Medical Research Council together with a major grant for establishment of a complete digitalized register for the NBS-Biobank as a national research resource. The Steering Committee for Scientific Use of the Biobank is appointed every 3 years by the managing director of Statens Serum Institut (SSI). It consists of five members, two from SSI and three external. After proper approval from The Danish Data Protection Agency and The Scientific Ethical Committee System, the Steering Committee for Scientific Use of the NBS-Biobank decides which research projects are to make use of blood samples. The Committee evaluates the scientific value of the projects and the appropriateness of the proposed analytical technology. In practice, the Committee shall ensure that state-of-the-art multiplex microtechnology is used for the analysis of the samples, and guarantee that there is always enough blood left on each sample to complete the necessary medical analyses in direct relation to the original purpose of storage (First priority).

13.5.2 Use of Archived Samples The use of the stored DBSS samples is listed in Table 13.4. First priority for use is for the benefit of child and family. This applies to diagnosis and treatment of the disorders screened for involving control and documentation, and repeated analyses if any of the diseases should develop later in infancy. Reanalysis of the original DBSS may be the only way to ascertain and document if sample mix-up or other unfortunate events has taken place. For diagnostic use in other cases of unexpected morbidity or mortality during infancy, DBSS from the NBS-Biobank may be used for

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Table 13.4 The Danish NBS register and biobank. The stored information and biobank is used for the followings Diagnosis and treatment of PKU, CH and IEM Control, documentation and repeated analyses QA and assay improvement Nonindividual-based statistics Specific disease testing (informed consent) Medicolegal use (court order) Research projects using biochemical, genetical, and environmental markers

determination of the causes. Usually, request for these examinations are made by pediatricians and clinical geneticists after informed consent by the parents. Sometimes it is also relevant to include examination of siblings. Examples include congenital infection suspected of being present at birth or in the neonatal period, where the only way to make a definitive diagnosis is to analyze the neonatal DBSS for specific IgM antibodies and for nucleic acid sequences or antigens from the suspected microorganism. Investigation for cytomegalovirus (CMV) infection by demonstration of CMV-specific IgM and nucleic acid sequences by PCR, or Toxoplasmosis by IgM may be important for identification of the etiology of hearing loss, retarded development, hydrocephalus, or abnormalities found by cerebral imaging (intracerebral calcifications). Biochemical analyses of DBSS from the NBS-Biobank have also given diagnostic information for carbohydrate-deficient glycoprotein (CDG) syndrome by electrophoretic analyses of transferrin (Petersen et al. 1993), peroxisomal deficiencies by gas chromatography, and mass spectrometry and fatty acids oxidation disorders by MSMS (Jacobs et al. 1993). Genetic testing using DNA extracted from a DBSS has mainly been carried out in cases where a proband has died before genetic disease was suspected, or before a genetic analysis was done. Examples include congenital epidermolysis bullosa and genetic ion channel defects causing Long QT Syndrome (Christiansen et al. 2005; Larsen et al. 1997). For medicolegal use, the stored neonatal DBSS have, always after court order, been used for identification of victims in accidents such as the tsunami disaster and also in crime scene investigations.

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Storage of DBSS in the NBS-Biobank is also important for QA and assay improvement, which has second priority for use of samples. Evaluation of improved neonatal screening methods can be carried out as retrospective screening studies. MSMS screening for PKU was thus introduced as a prospective evaluation compared with the Guthrie test after a retrospective screening study, a more sensitive and faster time-resolved fluorimetric sandwich assay (DELFIA) for CH replaced our old in-house radioimmunoassay (Arends and Norgaard-Pedersen 1986), and a commercially available Toxo IgM assay (DELFIA) replaced a similar in-house assay. Research studies, which have third priority for use of DBSS from the NBS-Biobank, include retrospective screening for new screening targets, allele frequency studies and case-control studies of etiology, and pathogenesis of a number of late-onset disorders (Eising et al. 2007). The patients are identified by their unique CPRnumber through medical registers from clinical departments and from Danish public health registers containing information on different diseases. By the CPR-number, DBSS in the NBS-Biobank from cases as well as from appropriate controls can be retrieved. After collection of case/control DBSS, the study is made anonymous and the examinations can be carried out as a so-called register-type study after approval by the Data Protection Agency, the Scientific Ethical Committee, and the Steering Committee for Scientific Use of the NBS-Biobank. Some studies have been carried out after written informed consent and usually only 4–5% did not want to participate (Christensen et al. 1999). Retrospective case/control samples from the NBS-Biobank represent a highly efficient way to evaluate new screening techniques, i.e., proof of concept. Such evaluations have been carried out for cystic fibrosis using a two-tiered approach employing immunoreactive trypsin and ∆F508 (IRT/∆F508) mutation analysis (Norgaard-Pedersen et al. 1999), for congenital toxoplasmosis using a new assay for toxoplasma-specific IgM (Lebech et al. 1999) and for different inborn errors of metabolism (IEM) using MSMS. All retrospective screening studies confirmed that


screening could be started without the need for expensive prospective trials. Data based on the use of DBSS from The Danish NBS-Biobank also indicate that it may be possible to screen for lysosomal storage disorder and severe combined immune deficiency (SCID). Since the NBS-Biobank contains unselected material with essentially universal coverage of the entire populations of Denmark, Greenland, and Faeroe Island, it is also an optimal source for allele frequency studies. These studies include mutations for medium-chain acyl CoA dehydrogenase deficiency (MCAD; Lundemose et al. 1993), apolipoprotein B-3500 (Hansen et al. 1994), Factor V. Leiden (Larsen et al. 1998), hereditary hemochromatosis (Merryweather-Clarke et al. 1999), lutenizing hormone (Nilsson et al. 1998), follicle-stimulating hormone receptor (Jiang et al. 1998), Byler’s disease (Eiberg et al. 2003), and carnitine transporter holocarboxylase deficiencies (Lund et al. 2007). The NBS-Biobank is also extremely useful for identifying susceptibility alleles for various diseases by genome-wide association studies that require access to DNA from thousands of wellcharacterized patients and healthy controls. The amount of DNA available in neonatal DBSS is, however, rarely sufficient for reliable genomewide scans and subsequent in-depth sequencing, which make whole genome amplification (WGA) necessary. Recent development within this field makes it possible to reliably scan the whole genome for a million single-nucleotide polymorphisms (Hollegaard et al. 2009a, b).This has recently been used for identification of genetic variations associated with schizophrenia (Stefansson et al. 2009). Determination of specific antibodies against microorganisms and measurement of vitamin D in archived newborn DBSS has also contributed to cast light on the pathogenesis of schizophrenia (Eyles et al. 2009; McGrath et al. 2010; Mortensen et al. 2007, 2010). Infectious disease and vaccination epidemiology is another area where useful information can be obtained especially if DBSS can be matched with maternal samples from the same pregnancy. Such paired mother–child samples


have been used to determine the seroconversion and maternal-fetal transmission rates for parvovirus B19 (Valeur-Jensen et al. 1999) and toxoplasmosis (Lebech and Petersen 1992). As IgG from the mother cross the placenta barrier, it is also possible to assess the efficiency of vaccination programs by monitoring her specific IgG response determined in the neonatal DBSS from her children born at different years (Aggerbeck et al. 1996). The development of multiplex immunoassay technologies that can measure concentration of cytokines in newborn DBSS opens for new possibilities to study the correlation between perinatal inflammation and preterm birth and the development of central nervous system disorders such as cerebral palsy and autism (Skogstrand et al. 2005, 2008a, b; Klamer et al. 2007).

13.6 Future Development The new multianalyte technologies such as MSMS and DNA microarray (DNA chips) will permit detection of several orphan diseases, and indeed the neonatal screening has moved from the “Guthrie age” to the “genetic age” (Dhondt 2007). These new technologies will also change the traditional screening from preventive medicine to that of predictive medicine, i.e., screening for susceptibility to complex disorders such as diabetes type 1, asthma, schizophrenia, autism, etc. Another important development for NBS is the appearance of new treatments for so far untreatable disorders, i.e., lysosomal storage disorders (Gelb et al. 2006). Future screening especially predictive screening must be very carefully evaluated especially from legal, ethical, and consumer point of view.

References ACMG Newborn Screening-Expert Group. (2006). A Newborn screening panel and system. Genetics in Medicine, 8, 1–252. Aggerbeck, H., Norgaard-Pedersen, B., & Heron, I. (1996). Simultaneous quantitation of diphtheria and tetanus antibodies by double antigen, time-resolved

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fluorescence immunoassay. Journal of Immunological Methods, 190, 171–183. Arends, J., & Norgaard-Pedersen, B. (1986). Immunofluorometry of thyreoropin from wholeblood spots on filter paper to screen for congenital hypothyroidism. Clinical Chemistry, 32, 1854–1856. Beutler, E. (1991). Galactosemia: Screening and diagnosis. Clinical Biochemistry, 24, 293–400. Christensen, K., Olsen, J., Norgaard-Pedersen, B., Basso, O., Støvring, H., Milhollin-Johnson, L., et al. (1999). Oral clefts, transforming growth factor alpha gene variants, and maternal smoking: A population-based case-control study in Denmark, 1991–1994. American Journal of Epidemiology, 149, 248–255. Christiansen M., Tonder N., Larsen L. A., Andersen P. S., Simonsen H., Oyen, N., Kanters, J. K., Jacobsen, J. R., Fosdal, I., Wettrell, G., & Kjeldsen, K. (2005). Mutations in the HERG K+-ion channel: A novel link between long QT syndrome and sudden infant death syndrome. American Journal of Cardiology, 95(3), 433–434. CLSI. (2006). Newborn screening follow-up: Approved guideline. CLSI document I/LA27-A. Wayne: Clinical and Laboratory Standards Institute. CLSI. (2007). Blood Collection on Filter Paper for Newborn Screening Programs; Approved Standard-Fifth edition. CLSI document LA4-A5. Wayne: Clinical and Laboratory Standards Institute. CLSI. (2008). Newborn screening guidelines for premature and/or sick newborn; proposed guideline. CLSI document I/LA31-P. Wayne: Clinical and Laboratory Standards Institute. CLSI. (2010). Newborn screening by tandem mass spectrometry; approved guideline, CLSI document I/LA32A. Wayne: Clinical and Laboratory Standards Institute. Crossley, J. R., Elliott, R. B., & Smith, P. A. (1979). Dried-blood spot screening for cystic fibrosis in the newborn. Lancet, 1, 472–474. Dhondt, J. L. (2007). Neonatal screening: From the “Guthrie age” too the “genetic age.” Journal of Inherited Metabolic Disease, 30, 418–422. Dussault, J. H., Coulombe, P., Laberge, C., Letarte, J., Guyda, H., & Khoury, K. (1975). Preliminary report on a mass screening program for neonatal hypothyroidism. Journal of Pediatrics, 86, 670–467. Eiberg, H., Norgaard-Pedersen, B., Nielsen, I.-M. (2003). Cholestasis familiaris Groenlandica/Byler-like disease in Greenland—A population study (Circumpolar health—Proceedings of the 12th international congress on circumpolar health). International Journal of Circumpolar Health, 63(Suppl. 2), 189–193. Eising, S., Svensson, J., Skogstrand, K., Nilsson, A., Lynch, K., Andersen, P. S., Lernmark, Å., Hougaard, D. M., Pociot, F., Norgaard-Pedersen, B., & Nerup, J. (2007). Type 1 diabetes risk analysis on dried blood spot samples from population-based newborns: Design and feasibility of an unselected case-control study. Paediatric and Perinatal Epidemiology, 21, 507–517.

268 Eyles, D., Anderson, C., Ko, P., Jones, A., Thomas, A., Burne, T., Mortensen, P. B., Norgaard-Pedersen, B., Hougaard, D. M., McGrath, J. (2009). A sensitive LC/MS/MS Assay of 250 H vitamin D3 and vitamin D2 in dried blood spots. Clinical Chimica Acta, 403, 145–151. Gelb, M. H., Turecek, F., Scott, C. R., & Chamoles, N. A. (2006). Direct multiplex assay of enzymes in dried blood spots by tandem mass spectrometry for the newborn screening of lysosomal storage disorders. Journal of Inherited Metabolic Disease, 29, 397–404. Guthrie, R., & Susi, A. (1963). A simple phenylalanine method for detecting phenylketonuria in large populations of newborn infants. Pediatrics, 32, 338–343. Hansen, P. S., Norgaard-Pedersen, B., Meinertz, H., Jensen, H. K., Hansen, A. B., Klausen, I. C., Gerdes, L. U., & Faergeman, O. (1994). Incidence of the apolipoprotein B-3500 mutation in Denmark. Clinical Chimica Acta, 230, 101–104. Hollegaard, M. V., Grauhold, J., Børglum, A., Nyegaard, M., Norgaard-Pedersen, B., Ørntoft, T. F., Mortensen, P. B., Wiuf, C., Mors, O., Didriksen, M., Thorsen, P., Hougaard, D. M. (2009a). Genome-wide scans using archived neonatal dried blood spot samples. BMC Genomics, 10, 297. Hollegaard, M. V., Thorsen, P., Norgaard-Pedersen, B., & Hougaard, D. M. (2009b). Genotyping whole genome amplified DNA from 3–25 year old neonatal dried blood spot samples with reference to fresh genomic DNA. Electrophoresis, 30, 2532–3535. Illig, R., Torresanti, T., & Sobradillo, B. (1977). Early detection of neonatal hypothyroidism by serial TSH determination in dried blood. Six months experience with a reliable, efficient and inexpensive method. Helvetica Paediatrica Acta, 32, 289–297. Jacobs, C., van den Heuvel, C. M., Stellaard, F., Largilliere, C., Skovby, F., & Christensen, E. (1993). Diagnosis of Zellweger syndrome by analysis of very long-chain fatty acids in stored blood spots collected at neonatal screening. Journal of Inherited Metabolic Disease, 16, 63–66. Jiang, M., Aittomaki, K., Nilsson, C., Pakarinen, P., Itiä, A., Torresani, T., Simonsen, H., Goh, V., Pettersson, K., de la Chapelle, A., & Huhtaniemi, I. (1998). The frequency of an inactivating point mutation (566CàT) of the human follicle-stimulating hormone receptor gene in four populations using allele-specific hybridization and time-resolved fluorometry. The Journal of Clinical Endocrinology and Metabolism, 83, 4338–4343. Klamer, A., Skogstrand, K., Hougaard, D. M., NorgaardPedersen, B., Juul, A., & Greisen, G. (2007). Adiponectin levels measured in dried blood spot samples from neonates born small and appropriate for gestational age. Clinical Study. European Journal of Endocronology, 157, 1–6. Larsen, L. A., Fosdal, I., Andersen, P. S., Kanters, J. K., Vuust, J., Wetrell, G., & Christiansen, M. (1997). Recessive Romano-Ward syndrome associated with compound heterozygosity for two mutations in the

B. N. Pedersen and D. M. Hougaard KVLQT1 gene. European Journal of Human Genetics, 7, 724–728. Larsen, T. B., Lassen, J. F., Brandslund, I., Byriel, L., Petersen, G. B., & Norgaard-Pedersen, B. (1998). The Arg506Gln mutation (FV Leiden) among a cohort of 4188 unselected Danish newborns. Thrombosis research, 89, 211–215. Lebech, M., Andersen, O., Christensen, N. C., Hertel, J., Nielsen, H. E., Peitersen, B., Rechnitzer, C., Larsen, S. O., Norgaard-Pedersen, B., & Petersen, E. (1999). Feasibility of neonatal screening for toxoplasma infection in the absence of prenatal treatment. Lancet, 353, 1834–1837. Lebech, M., & Petersen, E. (1992). Neonatal screening for congenital toxoplasmosis in Denmark: Presentation of the design of a prospective study. Scandinavian Journal of Infectious Diseases, 84(Suppl), 75–79. Lund, A. M., Joensen, E., Hougaard, D. M., Jensen, L. K., Christensen, E., Christensen, M., Norgaard-Pedersen, B., Schwartz, M., & Skovby, F. (2007). Carnitine transporter and holocarboxylase synthetase deficiencies in the Faroe Islands. Journal of Inherited Metabolic Disease, 30, 341–9. Lundemose, J. B., Gregersen, N., Kølvraa, S., NorgaardPedersen, B., Gregersen, M., Helweg-Larsen, K., & Simonsen, J. (1993). The frequency of a disease-causing point-mutation in the gene coding for mediumchain acyl-CoA dehydrogenase (MCAD) in Sudden Infant Death Syndrome (SIDS). Acta Paediatrica, 82, 544–546. McCabe, E. R., Huang, S. Z., Selzer, W. K., & Law, M. L. (1987). DNA micro extraction from dried blood spots on filter paper blotters; potential applications to newborn screening. Human Genetics, 75, 213–216. McGrath, J. J., Eyles, D. W., Pedersen, C. B., Anderson, C., Ko, P., Burne, T. H., Norgaard-Pedersen, B., Hougaard, D. M., Mortensen, P. B. (2010). Neonatal vitamin D status and risk of schizophrenia: A population-based case-control study. Archives of General Psychiatry, 67, 889–894. Merryweather-Clarke, A. T., Simonsen, H., Shearman, J. D., Pointon, J. J., Norgaard-Pedersen, B., Robson, K. J. (1999). A retrospective anonymous pilot study in screening newborns for HFE mutations in Scandinavian populations. Human Mutation, 13, 154–159. Millington, D. S., Kodo, N., Norwood, D. L., & Roe, C. R. (1990), Tandem mass spectrometry; a new method for acylcarnitine profiling with potential for neonatal screening for inborn errors of metabolism. Journal of Inherited Metabolic Disease, 13, 321–324. Ministry of Health. (1993). Executive order of 14 January 1993. Regulations for the PKU Registry at Statens Serum Institut. Copenhagen: Ministry of Health. Mortensen, P. B., Norgaard-Pedersen, B., Waltoft, B. L., Sorensen, T. L., Hougaard, D., Torey, E. F., & Yolken, R. H. (2007). Toxoplasma gondii as a risk factor for early-onset schizophrenia: Analysis of filter paper blood samples obtained at birth. Biology Psychiatry, 61, 688–693.

13 Newborn Screening for Congenital Disorders in Routine and Research Mortensen, P. B., Pedersen, C. B., Hougaard, D. M., Nørgaard-Petersen, B., Mors, O., Børglum, A. D., & Yolken, R. H. (2010). A Danish National Birth Cohort study of maternal HSV-2 antibodies as a risk factor for schizophrenia in their offspring. Schizophrenia Research, 122, 257–263. Nilsson, C., Jiang, M., Pettersson, K., Iitiä, A., Makela, M., Simonsen, H., Easteal, S., Herrera, R. J., & Huhtaniemi, I. (1998). Determination of a common genetic variant of luteinizing hormone using DNA hybridization and immunoassays. Clinical Endocrinology, 49, 369–376. Norgaard-Pedersen, B., & Hougaard, D. M. (2007). Storage policies and use of the Danish Newborn Screening Biobank. Journal of Inherited Metabolic Disease, 30, 530–536. Norgaard-Pedersen, B., Høgdall, E., Iitiä, A., Arends, J., Dahlen, P., & Vuust, J. (1999). Immunoreactive trypsin and a comparison of two DF508 mutation analyses in newborn screening for cystic fibrosis: An anonymous pilot study in Denmark. Screening, 2, 1–11. Pang, S., Murphey, W., Levine, L. S., Spence, D. A., Leon, A., LaFranchi, S., Surve, A. S., & New, M. I. (1982). A pilot newborn screening for congenital adrenal hyperplasia in Alaska. Journal of Clinical Endocrinology And Metabolism, 55, 413–420. Petersen, M. B., Brostrøm, K., Stibler, H., & Skovby, F. (1993). Early manifestations of the carbohydrate-deficient glycoprotein syndrome. Journal of Pediatrics, 122, 66–70. Politt, R. J. (2007). Introducing new screens: Why are we all doing different things? Journal of Inherited Metabolic Disease, 30, 423–429. Skogstrand, K., Thorsen, P., Norgaard-Pedersen, B., Schendel, D. E., Sorensen, L. C., Hougaard, D. M. (2005). Simultaneous measurement of 25 inflammatory markers and neurotrophins in neonatal dried blood spots by immunoassay with xMAP technology. Clinical Chemistry, 51, 1854–1866.

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Skogstrand, K., Ekelund, C. K., Thorsen, P., Vogel, I., Jacobsen, B., Norgaard-Pedersen, B., Hougaard, D. M. (2008a). Effects of blood sample handling procedures on measurable inflammatory markers in plasma, serum and dried blood spot samples. Journal of Immunological Methods, 336, 78–84. Skogstrand, K., Hougaard, D. M., Norgaard-Pedersen, B., Schendel, D. E., Sværke, C., & Thorsen, P. (2008b). Association of preterm birth with sustained postnatal inflammatory response. Obstetrics and Gynecology, 111, 1118–1128. Stefansson, H., Ophoff, R. A., Steinberg, S., Andreassen, O. A., Cichon, S, Rujescu, D., Werge, T., Pietilainen, O. P. H., Mors, O., Mortensen, P. B., Sigurdsson, E., Gustafsson, O., Nyegaard, M., Tuulio-Henriksson, A., Ingason, A., Hansen, T., Suvisaari, J., et al. (2009). Common variants conferring risk of Schizophrenia. Nature, 460, 744–747. Therell, B. L. (2010). Newborn dried blood spot sceening. In C. J. Driscoll & B. McPherson (Eds.), Newborn screening systems (pp. 133–156). San Diego: Plural Publishing. Valeur-Jensen, A. K., Pedersen, C. B., Westergaard, T., Jensen, I. P., Lebech, M., Andersen, P. K., Aaby, P., Norgaard Pedersen, B., & Melbye, M. (1999). Risk factors for parvovirus B19 infection in pregnancy. Journal of the American Medical Association, 281, 1099–1105. Wilcken, B., & Wiley, V. (2008). Newborn screening. Pathology, 40, 104–115. Wilson, J. M. G., Jungner, G. (1968). Principles and practice of screening for disease. Geneva: World Health Organization. Wolf, B., & Heard, G. S. (1991). Biotinidase deficiency. Advances in Pediatrics, 38, 1–21.

Genetic and Metabolic Conditions for Children with Special Health Care Needs

14

David Hollar

Abstract

Public health disease prevention programs have expanded newborn screening to most nations, although lack of access to prenatal and birth care continues to be a major challenge to improving child health and reducing morbidity/mortality in poor, rural, and other disadvantaged regions. Newborn screening involves collection of a few blood spots from a newborn infant’s heel, followed by rapid laboratory analysis, often at a centralized testing facility, and relaying of the test results to the pediatrician for appropriate action. Such testing and rapid reporting are important for some genetic conditions such as phenylketonuria and classical galactosemia, where failure to provide treatment and restricted diets within days can result in severe brain damage, permanent disability, and/or death. Newborn screening started in the 1970s with a core set of tested conditions, including phenylketonuria, sickle-cell anemia and other hemoglobinopathies, galactosemia, and congenital hypothyroidism. Beginning around 2000, the invention of Tandem Mass Spectrometry enabled testing of a wide array of additional amino acid, organic acid, and fatty acid metabolic conditions so that currently in the United States, more than 50 genetic or metabolic conditions are tested. An overview of many of these screened conditions is provided along with resources for more information, although the number of documented, different conditions numbers in the thousands, most of which cannot be diagnosed with current newborn screening technology. The provided resources provide excellent details and emphasize the importance of proper prenatal and postnatal pediatric care and monitoring to identify these conditions if they arise. Most conditions are treatable with proper nutritional restrictions.

D. Hollar () University of North Carolina at Chapel Hill, CB 7530, Chapel Hill, NC 27599, USA e-mail: [email protected], [email protected] D. Hollar (ed.), Handbook of Children with Special Health Care Needs, DOI 10.1007/978-1-4614-2335-5_14, © Springer Science+Business Media New York 2012

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Abbreviations

CoA Coenzyme A CF Cystic Fibrosis DNA Deoxyribonucleic Acid G6PDD Glucose 6 Phosphate Dehydrogenase Deficiency LCADD Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency LCHADD Long-Chain Hydroxy Acyl-Coenzyme A Dehydrogenase Deficiency MCADD Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency MCKAT Medium-Chain 3-Ketoacyl-Coenzyme A Thiolase MSUD Maple Syrup Urine Disease SCADD Short-Chain Acyl-Coenzyme A Dehydrogenase Deficiency SCHADD Short-Chain HydroxyAcyl-Coenzyme A Dehydrogenase Deficiency NAD Nicotinamide Adenine Dinucleotide OMIM® Online Mendelian Inheritance in Man RNA Ribonucleic Acid

14.1 Introduction As described in Chap. 13, newborn screening programs are widely used in developed nations and are expanding, with World Health Organization and other international program promotions in all nations to screen every child born in a hospital for potential life-threatening genetic and physical conditions. Due to lethal effects of some conditions in the first days following birth, the birth health care team collects a small blood sample, usually from the infant’s heel and sends the sample to a centralized biochemistry laboratory to test for up to 60 potential genetic and/or metabolic conditions, some of which are described in this chapter. In addition, physical examination of the newborn infant or by a pediatrician within the critical first weeks following birth can identify an array of physical birth defects (see Chap. 15).

D. Hollar

Consequently, maternal and child health programs strongly advocate early and frequent prenatal health care (especially during the first trimester of pregnancy) for women who are pregnant, birth assisted by professional clinicians, and early pediatrician visits and immunizations in the weeks following birth. Nevertheless, widespread health disparities exist in the availability of such services even in the more developed nations such that millions of children worldwide experience unnecessary negative health outcomes. Many genetic and metabolic conditions are easily treated with appropriate nutrition. Many children with special health care needs (CSHCN) have genetic or metabolic conditions, although the percentages of children with these conditions are imprecise and vary geographically. It is important to emphasize that the causes of these conditions include inheritance and/or indirect environmental exposures to the unborn child during pregnancy. Whereas certain maternal behaviors (e.g., substance abuse, improper nutrition) have been shown to contribute to genetic mutations and birth defects, a vast array of factors might contribute to the ultimate cause of many conditions, so that assignment of “blame” to parents could be misguided and would be both useless as well as irresponsible. Instead, the focus needs to be on early diagnosis, treatment, and support for CSHCN and their families so that children with these conditions can lead optimal lives. Here, we provide general information and useful resources for families, policymakers, and researchers.

14.2 The Genetic Basis of Many Conditions Every person develops from a single, fertilized egg (i.e., zygote) that contains roughly complementary genetic information (i.e., chromosomes) from each parent. The zygote begins dividing disproportionately into groups of cells, some of which will become the new person, others which will become support tissues (e.g., placenta) that provide protection and interface with the mother’s blood supply for nutrition. Whereas every

14 Genetic and Metabolic Conditions for Children with Special Health Care Needs

cell contains identical genetic information, different cells undergo genetically programmed, sequential gene control changes and differentiation to specialize as various body structures and functions. These changes occur by precise genetic control changes on some of the approximately 30,000 genes present on the chromosomes of each cell, thereby affecting the messenger RNA production, regulation, and protein production encoded by many of these genes, with modification of these proteins and excretion of some proteins and other biological compounds into the spaces in between cells. These excreted biological molecules provide gradients of chemical signals to neighboring cells, thereby providing positional information that directs the fate of cells, groups of cells, and entire tissues (Wolpert et al. 2011; see also Chap. 15).

14.2.1 A Synopsis of Human Genetics, Inheritance, and Mutation The approximately 30,000 functioning genes in the human genome are located on 24 chromosomes. With the exception of reproductive cells, every cell in the body has two copies of chromosomes 1–22 and either two X chromosomes (female) or one X and one Y chromosome (male). Therefore, nonreproductive human cells normally have 46 chromosomes. Due to errors during meiosis in either the sperm or the egg, the first cell (zygote) of a new individual might have an extra copy of a chromosome, and in triplicate, overexpression of extra genes located on three chromosomes can disrupt normal development and chemical balances throughout the body. In addition, pieces of chromosomes can be accidentally duplicated or deleted, also disrupting normal cell and body physiologies. Finally, mutations, or changes in the DNA code of individual genes, can affect the enzyme coded by a particular gene. If the function of the enzyme is insignificant, then we have distinguishing features of human uniqueness (e.g., eye color variations). However, if the enzyme controls one or several body functions, then a mutation affecting the enzyme might have severe effects. All of

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these scenarios depend on the importance of the enzyme in a critical life function. As humans have two copies of every gene in every nonreproductive cell, a mutation in one gene can be masked by the normal gene; this happens when the mutant gene is recessive to the normal gene so that its effects do not show up in the person’s physiology. When a mutant gene is masked by a normal gene, the person is termed heterozygous for the condition. It is likely that most people carry a few lethal recessive mutations in their cells, but these mutations are masked. Sometimes the normal gene can be deactivated in specific tissues so that the mutant gene becomes expressed. Conversely, a dominant mutation will always be expressed because it will mask the normal gene in heterozygous individuals. Nevertheless, some dominant mutations such as polydactyly (i.e., many fingers or toes) are incompletely penetrant and may be affected by environmental and/ or other epigenetic factors. Most of the genetic and metabolic conditions described below involve single, recessive gene mutations that must be present in two copies of every cell of the individual (i.e., homozygous) in order to show their dangerous effects. Therefore, the individual will have received a mutant gene from each parent. If the mutation is located on an X chromosome, males will be far more likely to express the mutation than females because males have only one X chromosome, whereas females have two X chromosomes so that the presence of a mutation in a gene on one X chromosome most likely will be masked by a normal version of the gene on the companion X chromosome. Whereas, many mutations described below impact intelligence and, therefore, behavior, the expanding public health focus on behavioral disabilities such as Attention Deficit Hyperactivity Disorder (ADHD) and autism has yielded inconclusive genetic-environmental causes. These behavioral conditions are of such complexity and variety that it is likely that multiple genes (e.g., polygenic inheritance) are involved instead of single genes. The complexity of such genetic interactions largely remains unknown at present.

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14.2.2 Human Uniqueness

14.2.5 Epigenetics

Every person is genetically unique, except for monozygotic twins, but even then individual exposures to different environments, chemicals, and experiences can epigenetically modify the DNA of cells within one’s body. With approximately 30,000 functional genes in the 46-chromsome human genome for every cell of the body, plus billions of apparently noncoding DNA nucleotides that might have regulatory roles, slight changes make each person unique. Williams (1956) calculated that, for just 100 genes, the probability of having no abnormal genes is less than 1%. Therefore, every person inherits abnormal genes.

Furthermore, evidence indicates that an individual’s development can be genetically impacted by exposures to famine and other experiences encountered by an individual’s grandparents (Pembrey et al. 2006)! These transgenerational epigenetic effects occur via methylation of specific DNA sequences in genes (Fraga et al. 2005; Symonds 2010) that can be maintained and transmitted in sperm and egg. This discovery leaves us with a sobering realization: our experiences and exposures to chemicals and events can affect our descendants over many generations (Pembrey et al. 2006). There is additional evidence that immune incompatibilities between mother and father can severely impact a pregnancy (Pearson 2002). Epigenetic research is young, so much work remains to understand its impact upon individual development and conditions.

14.2.3 Inborn Errors of Metabolism With Hugo De Vries’ early twentieth-century rediscovery of Gregor Mendel’s principles of inheritance and the linkage of these principles to chromosomal inheritance via the cellular division processes of mitosis and meiosis, biologists began to understand the inheritance of various abnormal conditions. Among the first physiological conditions to be confirmed as inherited included alcaptonuria (darkened urine due to the accumulation of homogentisic acid), phenylketonuria (described in Sect. 14.3.1), and albinism. Induced mutation studies in fungi and invertebrate animals further demonstrated the connection between genes, enzymes, and metabolic pathways (Gardner and Snustad 1984).

14.2.4 Consanguinity Consanguinity increases the likelihood of a child expressing a recessive lethal or nonadaptive mutation. When two parents are closely related, they are more likely to carry similar genes, including recessive mutations. Therefore, if related parents have children, each conception increases the risk for bringing a sperm carrying a recessive mutation to an egg carrying the same mutation, resulting in the child expressing the condition encoded by the mutant gene.

14.3 Genetic and Metabolic Conditions All genetic conditions can be further researched in detail by visiting the Online Mendelian Inheritance in Man (OMIM®) website, a collection first developed by Dr. Victor A. McKusick (1966, 1990, 1998) and currently curated by the National Center for Biotechnology Information and Johns Hopkins University at www.ncbi.nim. nih.gov/omim; the National Newborn Screening and Genetics Resource Center (genes-r-us.uthscsa.edu); the Hastings Center (www.thehastingscenter); American College of Medical Genetics (www.acmg.net); the CSHCN advocacy group Family Voices (www.familyvoices.org); and the March of Dimes (www.marchofdimes.com/ peristats/nbsdefinitions.aspx). In addition, Kaye (2006) provided a straightforward overview for many conditions. Also see the Newborn Screening Coding and Terminology Guide (http://newbornscreeningcodes.nlm.nih.gov/) for more information, including links to the OMIM® website and other useful genetic links. Genetic and molecular conditions identifiable by Tandem Mass Spectrometry (see Chap. 13)


include the following conditions, characteristics of which are presented from the cited sources and from the OMIM® website (www.ncbi.nim. nih.gov/omim). For purposes of newborn screening, the genetic and metabolic conditions are arbitrarily divided into categories roughly related to: (a) amino acid, (b) nitrogen, (c) fatty acid, (d) organic acid, and (e) other genetic and metabolic conditions. All of the conditions listed below are autosomal recessive conditions, meaning that they are expressed only when the mutation is inherited from both parents, when the gene is located (i.e., linked) on the X chromosome (thereby predominantly affecting males), or when there is mixed expression between the mutant and normal genes in heterozygous individuals due to a variety of gene regulatory effects. Dominant mutations (e.g., Huntington Disease; Chromosome 4p16.3; OMIM® 143100) are always expressed when present, but they are rare because of their usual early development lethal effects in utero, although Huntington’s disease involves neurodegeneration later in life.

14.3.1 Amino Acid Conditions Phenylketonuria (Chromosome 12q24.1; ® OMIM condition number 261600) occurs approximately once for every 20,000 births and was one of the first conditions tested when newborn genetic screening programs started. In phenylketonuria, the body produces abnormally low levels of phenylalanine hydroxylase, an enzyme that normally converts the amino acid phenylalanine to the amino acid tyrosine, resulting in the accumulation of toxic levels of phenylalanine in brain tissue, resulting in permanent brain damage and severe mental retardation. With early detection via newborn screening, prescription of a lifelong, low-phenylalanine diet results in normal development. Other genetic variants have been identified as well (McKusick 1966, 1990, 1998; www. ncbi.nim.nih.gov/omim; www.marchofdimes. com; www.acmg.net). Additional amino acid conditions include Maple Syrup Urine Disease (MSUD; Chromosome 7q31–32 or 1p31; OMIM® 248600), Hypermethioninemia (Chromosome 20cen-q13.1;

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OMIM® 613752), Homocystinuria (Chromosome 21q22.3; OMIM® 236200), Oxoprolinuria (Chromosome 20q11.2; OMIM® 266130); and Tyrosinemia Types I (Chromosome 15q23-q25; OMIM® 276700), II (Chromosome 16q22.1q22.3; OMIM® 276600), and III (Chromosome 12q24-qter; OMIM® 276710) (McKusick 1966, 1990, 1998; www.ncbi.nim.nih.gov/omim). MSUD is a potentially lethal condition that occurs in approximately one out of every 100,000 births, and most notably one of every 800 Mennonite births (McKusick 1966, 1990, 1998; www.ncbi.nim.nih.gov/omim). The aberrant gene encodes a faulty protein that normally breaks down excessive amounts of the amino acids leucine, valine, and isoleucine. Without detection and treatment during the first week of life, these amino acids reach toxic levels, resulting in seizures and death. The condition is characterized by burnt maple syrup smell to the infant’s urine. A diet low in protein and particularly the protein-building amino acids leucine, valine, and isoleucine allows normal development (McKusick 1966, 1990, 1998; www.ncbi.nim.nih.gov/ omim). Hypermethioninemia involves failure to breakdown the byproducts of methionine, resulting in elevated toxic levels of this amino acid. Symptoms include heart problems, mental retardation, and abnormalities of the face, teeth, and hair. Dietary restriction of methionine is the recommended treatment (Labrune et al. 1990; Baric et al. 2004; McKusick 1966, 1990, 1998; www.ncbi.nim.nih.gov/omim). Homocystinuria is very similar to hypermethioninemia, resulting in elevated methionine leading to heart problems and risks for strokes. Almost 50% of individuals die before the age of 25 even with dietary treatments of pyridoxine (Vitamin B6) and a diet low in methionine (McKusick 1966, 1990, 1998; www.ncbi.nim.nih.gov/omim). Oxoprolinuria involves a mutation in the gene-encoding glutathione synthetase (OMIM® 601002, 231900), an important enzyme that produces glutathione from the amino acids cysteine, glutamate, and glycine. Without the critical oxidative protection of glutathione, many body tissues can be damaged from waste products of metabolism, with brain damage leading to mental retardation, seizures, anemia,

276 Fig. 14.1 Hypothetical, simplified amino acid metabolic pathway has mediating enzymes and the effect of mutation on enzymes early and late in the pathway is shown. (See Stryer (1995) for a more extensive discussion)

D. Hollar Gene A Amino Acid A

Enzyme A Gene B

Mutation in Gene A Stops B, C, & D here

Amino Acid B

Enzyme B Gene C Amino Acid C

Mutation in Gene C Stops D here

chronic metabolic acidosis, and death. Studies (Ristoff et al. 2001) indicate that dietary vitamins C and E may improve patients’ conditions. Tyrosinemia involves a mutation impacting metabolism of the amino acid tyrosine, with symptoms including heart, intestinal, kidney, liver, and pancreatic problems. Treatments involve diets low in the amino acids tyrosine, phenylalanine, and methionine, with the more severe Type I often requiring a liver transplant (McKusick 1966, 1990, 1998; www.ncbi.nim.nih.gov/ omim; www.marchofdimes.com). Note that these mutations impact later in the biochemical pathway for amino acid breakdown than the mutation for phenylketonuria, hence the accumulation of more toxic amino acids, both phenylalanine and tyrosine. Much of amino acid metabolism involves synthesis of some amino acids or breakdown of excessive amounts of the 20 amino acids needed for protein production in every cell of the body. Similar amino acids share common metabolic pathways, where one amino acid is broken down to form another amino acid and a byproduct compound, etc. Often, a mutation located late in a metabolic pathway would affect one or few compounds such as tyrosine, which has severe but limited effects on the body. A mutation located early in the metabolic pathway would affect more reactants “downstream”

Enzyme C

Amino Acid D

from the mutation, which occurs in conditions such as phenylketonuria with wider-ranging physiological effects (Fig. 14.1).

14.3.2 Conditions of Nitrogen Metabolism While connected with amino acid metabolism, the next six conditions revolve around one critical physiological function, and they also illustrate the sequential effects of mutations upon metabolic pathways shown in Fig. 14.1. The conditions are: (a) Carbamoyl Phosphate Synthetase Deficiency (Chromosome 2q35; OMIM® 237300); (b) Hyperornithinemia (Chromosome 13q14; OMIM® 238970); (c) Ornithine Transcarbamylase Deficiency (Chromosome Xp21.1; OMIM® 311250); (d) Citrullinemia (Chromosome 9q34.1; OMIM® 215700); (e) Arginosuccinic Lyase Deficiency (Chromosome 7cen-q11.2; OMIM® 207900); and (f) Argininemia (Chromosome 6q23; OMIM® 207800). Together, these six genetic conditions impact the seven subsequent biochemical reactions in the nitrogen-cycling urea cycle (Fig. 14.2), which occurs in liver cells to remove toxic levels of nitrogen and ammonia waste products from the body.

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14 Genetic and Metabolic Conditions for Children with Special Health Care Needs Ammonia

Water

Carbon Dioxide 1. Carbamoyl Phosphate Synthetase Carbamoyl Phosphate

Ornithine

2. Ornithine Transcarbamylase Citrulline Mitochondrial Inner Membrane

3,7. Mitochondrial Ornithine Transporter

Ornithine

Urea

Citrulline 6. Arginase

Arginine

Excretion

Cellular Cytoplasm

Fumarate

Aspartate

Amino Acids

4. Arginosuccinate Synthetase Arginosuccinate 5. Arginosuccinate Lyase

Fig. 14.2 The simplified urea cycle with associated genetic/metabolic conditions associated with each of the seven biochemical stages. Each enzyme ( ovals) is associated with an amino acid metabolic condition. (See Stryer

(1995) and Roche/Swiss Institute (2011) for greater details on the specific metabolic pathways and connections to other pathways)

Carbamoyl Phosphate Synthetase Deficiency occurs in approximately one of every 500,000 births (Testai and Gorelick 2010). There is low production of the enzyme carbamoyl phosphate synthetase (OMIM® 608307), which produces carbamoyl phosphate from ammonia, carbon dioxide, and water at the beginning of the urea cycle (Fig. 14.2). Symptoms can include respiratory alkalosis, vomiting, seizures, mental retardation, and death. Treatment involves dietary arginine (which is produced at a subsequent stage of the urea cycle) plus sodium benzoate to sequester excess nitrogen (Testai and Gorelick 2010; McKusick 1966, 1990, 1998; www.ncbi.nim.nih.gov/ omim). A mutation at the next urea cycle stage induces Ornithine Transcarbamylase Deficiency, a

mutation in the enzyme that combines carbamoyl phosphate and ornithine to produce citrulline. Since this mutation is X-linked, the condition overwhelmingly affects males, although heterozygous females can be affected. Prevalence is approximately one of every 80,000 births, symptoms are similar, and treatments include sodium phenylacetate or sodium phenylbutyrate (Maestri et al. 1991; Testai and Gorelick 2010; McKusick 1966, 1990, 1998; www.ncbi.nim.nih.gov/ omim). Hyperornithinemia, impacting the simultaneous stages 3 and 7 of the urea cycle (Fig. 14.2), disrupts the mitochondrial ornithine transporter (OMIM® 603861), a protein that moves ornithine and citrulline in opposite directions across the inner mitochondrial membrane, the mitochon-

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drion being an energy organelle found in all cells and that is essential for life. This movement of ornithine enables further steps in the urea cycle for removal of excess nitrogen from the body. Symptoms are similar to the nitrogen metabolism conditions described above, and treatment includes a diet of low protein with arginine supplements (Gjessing et al. 1986; Rodes et al. 1987; Wong et al. 1989; McKusick 1966, 1990, 1998; www.ncbi.nim.nih.gov/omim). Within the mitochondrion, Citrullinemia (Chromosome 9q34.1; OMIM® 215700), Arginosuccinic Lyase Deficiency (Chromosome 7cen-q11.2; OMIM 207900), and Argininemia (Chromosome 6q23; OMIM 207800) disrupt stages 4–6 of the urea cycle (Fig. 14.2), respectively. Citrullinemia and Arginiemia occur independently in approximately one of every 100,000 births. Arginosuccinic Lyase Deficiency occurs in approximately one of every 150,000 births (Testai and Gorelick 2010). Like the other urea cycle conditions, treatment usually involves sodium benzoate to sequester nitrogen, and a lowprotein diet supplemented with arginine (Qureshi et al. 1984). The urea cycle (Fig. 14.2) is central to the removal of excessive, toxic levels of nitrogen in the body. Whereas our model shows a seven-step cycle that repeats itself, thereby demonstrating the overall effect of nitrogen input and nitrogencontaining urea output along with amino acid inputs (i.e., aspartate) and outputs (i.e., arginine), the reactions occur continuously in proximity along the inner mitochondrial membrane and cell cytoplasm. Therefore, there are continuous, simultaneous reactions that utilize the products of other reactions. The excreted urea from liver cells enters the bloodstream and is removed from the body via the primary excretory organs (i.e., kidneys and skin). CSHCN with nitrogen metabolic conditions can have productive lives with frequent pediatric visits and proper nutrition.

14.3.3 Fatty Acid Disorders The fatty acid disorders further illustrate sequences of events in metabolic pathways and the strong

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interconnectedness between specific biochemical reactions in the body with other metabolic events impacting health and functioning. Mutations in genes that encode enzymes that function in the cyclic and noncyclic fatty acid metabolic chains produce a variety of fatty acid conditions experienced by some CSHCN. Clinicians and researchers describe these conditions as short-, medium-, long-, and very long-chain acyl- or hydroxyacyl-coenzyme A dehydrogenase deficiencies, the names being based upon the structures of the intermediary compounds that are deficient, or in low amounts, based upon the lack of enzyme from the gene mutation. The OMIM® website (www.ncbi.nim.nih.gov/omim) lists the following major varied-chain fatty acid conditions: Short-Chain Acyl-Coenzyme A Dehydrogenase Deficiency (SCADD; Chromosome 12q22-qter; OMIM® 606885); Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency (MCADD; Chromosome 1p31; OMIM® 201450); Long-/ Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency (LCADD/VLCADD; Chromosome 17p13; OMIM® 201475); Long-Chain Hydroxy Acyl-Coenzyme A Dehydrogenase Deficiency (LCHAD; Chromosome 2p23; OMIM® 609016); Short-Chain Hydroxy Acyl-Coenzyme A Dehydrogenase Deficiency (SCHADD; Chromosome 4q22; OMIM® 231530); Medium-Chain 3-Ketoacyl-Coenzyme A Thiolase (MCKAT) Deficiency (Chromosome 2p23; OMIM® 602199, 143450); and Mitochondrial Trifunctional Protein Deficiency (Chromosome 2p23; OMIM® 609015). All of these fatty acid conditions relate to the short- and medium-chain beta oxidation/ acyl-coenzyme A (abbreviated acyl-CoA) cyclic metabolic pathway (Fig. 14.3). Coenzyme A (i.e., CoA) represents a multipurpose organic molecule in the cell that primarily functions to shuttle fatty acids across the inner mitochondrial membrane for a variety of essential, cyclic metabolic pathways, including the energy-generating Tri-Carboxylic Acid (i.e., TCA or Krebs Cycle), short- and medium-chain beta oxidation, longchain beta oxidation, the Carnitine cycle, and ketone synthesis (Stanley 2004; Stryer 1995; Thorpe and Kim 1995).

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14 Genetic and Metabolic Conditions for Children with Special Health Care Needs Fig. 14.3 The simplified beta oxidation/variedchain Acyl-Coenzyme A metabolic pathway: another cyclic pathway with all four metabolic stages affected by mutations. (See Stryer (1995) and Roche/ Swiss Institute (2011) for expanded details)

Acyl-Coenzyme A

Enoyl-Coenzyme A 1. Acyl-CoA Dehydrogenase

Cellular Cytoplasm

2. Enoyl-CoA Hydratase

Mitochondrial Inner Membrane

Hydroxyacyl-Coenzyme A

Trifunctional Protein

3. HydroxyacylCoA Dehydrogenase 4. Beta Ketothiolase Ketoacyl-Coenzyme A

Acetyl-Coenzyme A

Energy Generating Pathways

The SCADD, MCADD, and LCADD/VLCADD occur in approximately one of every 15,000 births (Pollitt and Leonard 1998; Andresen et al. 2001; McKusick 1966, 1990, 1998; www.ncbi.nim.nih.gov/omim), and they impact the first stage (Fig. 14.3) of beta oxidation in the mitochondrion. The affected enzyme is the acyl-Coenzyme A deydrogenase that modifies acyl-CoA into enoyl-CoA for the next reaction stage (Thorpe and Kim 1995). Symptoms of this deficiency include vomiting, muscle weakness, seizures, fluid accumulation in the brain, metabolic acidosis, low blood glucose, and death. Treatments include dietary glucose, L-carnitine, and avoidance of fasting (Roe et al. 1986; Treem et al. 1989). Long-Chain Hydroxy Acyl-Coenzyme A Dehydrogenase Deficiency (LCHADD) occurs ap-

proximately once every 60,000 births (Ibdah et al. 1999; McKusick 1966, 1990, 1998; www. ncbi.nim.nih.gov/omim). The mutation impacts the 3-hydroxyacyl-Coenzyme A enoyl-Coenzyme A hydratase (OMIM® 600890) at stage 2 (Fig. 14.3) that oxidizes hydroxyacyl-Coenzyme A compounds and simultaneously reduces nicotinamide adenine dinucleotide (NAD) for electron transport energy production during fatty acid metabolism. Symptoms include low blood glucose levels, muscle weakness, heart myocardium deterioration, and possibly death. Treatments include no fasting, a high-carbohydrate diet, and possibly a high-decanoate to octoanoate diet (Jones et al. 2003). Short-Chain Hydroxy Acyl-Coenzyme A Dehydrogenase Deficiency (SCHADD), also termed HADH Deficiency, has unknown preva-

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lence. It impacts the enzyme (stage 3, Fig. 14.3) converting hydroxyacyl-Coenzyme A compounds to ketoacyl-Coenzyme A compounds with the reduction of NAD for electron transport energy production. Symptoms include low blood glucose, heart and liver deterioration, seizures, and possible infant death. Treatments include no fasting, a high-carbohydrate diet, and sometimes a liver transplant (McKusick 1966, 1990, 1998; www.ncbi.nim.nih.gov/omim). Medium-Chain 3-Ketoacyl-Coenzyme A Thiolase (MCKAT) Deficiency impacts the HADHB gene (Das et al. 2006). Symptoms include metabolic acidosis, dehydration, vomiting, muscle decay, and possibly death (Kamijo et al. 1997). Treatments include no fasting and a carbohydrate diet, although few patient case studies have been available to ascertain best treatments. Together, the multiple enzymes just described, with the exception of stage 1 (Fig. 14.3) work in tandem as a cluster called the Mitochondrial Trifunctional Protein. Therefore, a mutation in a gene encoding any of these enzymes often is also referred to as Mitochondrial Trifunctional Protein Deficiency. Symptoms and treatments mirror each of the LCHAD, SCHAD, and the MCKAT conditions described above (Ibdah et al. 1999; McKusick 1966, 1990, 1998; www.ncbi.nim.nih. gov/omim). As more of these fatty acid and organic acid deficiencies discussed below are discovered, there have been few patient cases to study, so prevalences and treatments for many conditions are uncertain until more research on actual cases accumulate. The identification of these conditions during newborn screening utilizes an advancing technology called Tandem Mass Spectrometry, which has exponentially increased the numbers of conditions that can be identified at birth during 2000–2005 (Hollar et al. 2005). Because of the intricate linkages between the various biochemical pathways, common treatments can yield successful health outcomes for CSHCN. Among the treatments for fatty acid disorders is dietary supplementation with carnitine, an amino acid byproduct of lysine and methionine metabolism. Carnitine works with acyl-coenzyme A to shuttle fatty acids into and out of the mitochondrion.

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Carnitine is obtained from eating meat, hence its usefulness in treating many fatty acid conditions, but its metabolism is subject to several genetic/ metabolic conditions (Flanagan et al. 2010; Stanley 2004). Carnitine Palmitoyl Transferase Deficiency, Type I (Chromosome 11q13; OMIM® 255120) affects the CPT1 A gene that encodes carnitine palmitoyl transferase IA, an enzyme that works with other carnitine transport enzymes to move long-chain fatty acids into the mitochondrion of the cell for fatty acid beta oxidation. Symptoms include low blood sugar, liver and heart abnormalities, seizures, diarrhea, and unconsciousness (McKusick 1966, 1990, 1998; www.ncbi.nim. nih.gov/omim). Treatments include glucose, triglycerides, and no fasting (Haworth et al. 1992). In contrast, Carnitine Palmitoyl Transferase Deficiency, Type II (Chromosome 1p32; OMIM® 608836) alters a different part of the same carnitine palmitoyl transferase enzyme, but the outcomes for the CSHCN with this condition are far more serious. Symptoms include microcephaly (i.e., reduced head size), facial deformities, heart problems, difficulty in breathing, liver problems, kidney problems, and often is lethal in the first few days following birth. No specific treatments are suggested, and the mortality rate is high (McKusick 1966, 1990, 1998; www.ncbi. nim.nih.gov/omim). Other carnitine conditions include Carnitine/ Acylcarnitine Translocase Deficiency (Chromosome 3p21.31; OMIM® 212138) and Carnitine Uptake Defect (Chromosome 5q31.1; OMIM® 212140). The mutations affect different enzymes that move long-chain fatty acids into the mitochondrion in exchange for carnitine. Uptake defect occurs in approximately one of every 40,000 births (Koizumi et al. 1999). Symptoms of both conditions include heart problems, abnormal heart rhythms, low blood pressure, seizures, liver problems, and death (McKusick 1966, 1990, 1998; www.ncbi.nim.nih.gov/omim). Treatments include a strict, lifelong diet that is low in fat and high in carbohydrates while avoiding fasting (Lamhonwah et al. 2002). Finally, Glucose-6-Phosphate Dehydrogenase Deficiency (G6PDD; Chromosome Xq28;


OMIM® 305900) is a prevalent condition that takes on many mutational forms (i.e., polymorphisms). It is overwhelmingly more likely to affect male children than female children because males have only one X chromosome and, therefore, will express recessive mutations if they are present. It affects one out of every 15 males, and it is more frequent in African, Mediterranean, and Asian populations (Pinna et al. 2007; McKusick 1966, 1990, 1998; www.ncbi.nim.nih.gov/ omim). The condition impacts the enzyme that converts glucose-6-phosphate into 6-phosphogluconolactone in the pentose phosphate biochemical pathway, which in turn reduces NAD for electron transport energy production in the mitochondrion. Symptoms include jaundiced skin, kidney stones, and anemia. Treatments include a diet rich in iron, folic acid, and other vitamins/minerals that promote red blood cell production (McKusick 1966, 1990, 1998; www. ncbi.nim.nih.gov/omim).

14.3.4 Organic Acid Disorders Organic acid disorders consist of mutations in genes that affect both amino acid and other types of metabolism while often creating acidemia, a potentially serious blood condition that can damage many organs in the body. Acidemias include Isovaleric Acidemia (Chromosome 15q14–15; OMIM® 243500), Glutaric Acidemia (Chromosome 19p13.2; OMIM® 231670), Methylmalonic Acidemia (cblA type) (Chromosome 4q31.1– 31.2; OMIM® 251100), and Methylmalonic Acidemia (cblB type) (Chromosome 12q24; OMIM® 251110). Isovaleric Acidemia is caused by mutation in the isovaleryl coenzyme A dehydrogenase gene (OMIM® 607036), which further breaks down isovaleryl coenzyme A, a breakdown product of the amino acid leucine. The condition occurs in approximately one out of every 50,000 live births and varies in level of severity (McKusick 1966, 1990, 1998; www.ncbi.nim.nih.gov/omim). Symptoms include lack of appetite, vomiting, low blood platelet levels needed for clotting, lactic acidemia, neuromuscular irritability, and

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lowered body temperature, often exacerbated by infection. Sudden onset of symptoms in infants can be fatal if not treated immediately. Treatments include a diet low in leucine and protein but high in glycine and carnitine (Naglak et al. 1988). Glutaric Acidemia (Chromosome 19p13.2; OMIM® 231670) is caused by a mutation in the glutaryl-coenzyme A dehydrogenase gene, whose enzyme product (OMIM® 608801) converts glutaryl-coenzyme A to crotonyl-coenzyme A while contributing to the breakdown of the amino acids lysine and tryptophan. The condition occurs in approximately one of every 100,000 births, and it is prevalent among individuals of German descent (Zschocke et al. 2000). Symptoms include metabolic acidosis, low blood sugar, an enlarged head, and neural and liver abnormalities (McKusick 1966, 1990, 1998; www.ncbi.nim.nih.gov/ omim). Treatment includes a diet high in carnitine and low in the amino acid lysine (Kolker et al. 2007). Methylmalonic Acidemia (cblA type) (Chromosome 4q31.1–31.2; OMIM® 251100) and Methylmalonic Acidemia (cblB type) (Chromosome 12q24; OMIM® 251110) affect different genes-encoding enzymes that move cobalamin (Vitamin B12, or cbl) into the mitochondrion for manufacture of adenosylcobalamin, a vitamin B12 coenzyme that further assists other enzymes in mitochondrial energy production metabolic pathways. Symptoms include metabolic acidosis, dehydration, vomiting, anemia, seizures, low blood platelet counts, and developmental delay (McKusick 1966, 1990, 1998; www.ncbi.nim. nih.gov/omim). Treatments include oral vitamin B12 dietary administration to the infant (Ampola et al. 1975). Collectively, the acidemias represent conditions that vary blood homeostasis dangerously below the human average 7.35–7.45 pH logarithmic range for hydrogen cation. Therefore, acidemia or acidosis occurs when the blood pH falls below 7.35. Two organs, the lungs and kidneys, help to control the pH level and to keep it within the average 7.35–7.45 healthy range. During respiratory acidemia, poor breathing makes the condition worse, allowing carbon dioxide to

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increase in the bloodstream higher than its normal partial pressure of 35–45 mmHg; the kidneys can compensate for this carbon dioxide-triggered blood acid buildup by secreting bicarbonate into the bloodstream (normal bicarbonate levels at 22–26 mEq/L) to counteract the acid. Conversely, during metabolic acidemia, the body’s metabolism is causing the elevated blood acidity such that blood bicarbonate levels are low (i.e., below 22–26 mEq/L of blood); the lungs can compensate for this condition by increased breathing, thereby increasing blood oxygen and decreasing blood carbon dioxide (e.g., below the normal partial pressure of 35–45 mmHg). The organic acid disorders contribute to metabolic or respiratory acidosis by disrupting these and other (e.g., protein buffering) metabolic pathways that normally maintain blood chemistry at stable levels (Naglak et al. 1988; Marieb 2001). Organic acid deficiency conditions include Hydroxymethylglutaric Lyase Deficiency (Chromosome 1pter-p33; OMIM® 246450), Isobutyryl Coenzyme A Dehydrogenase Deficiency (Chromosome 11q25; OMIM® 611283), 3-Methylcrotonyl Coenzyme A Carboxylase Deficiency (Chromosomes 3q25–27 and 5q12–13; OMIM® 210200 and 210210). Hydroxymethylglutaric Lyase Deficiency mutates the gene-encoding hydroxymethylglutaric lyase, which catabolizes the final stage of amino acid leucine breakdown and the simultaneous generation of ketone bodies. Symptoms include metabolic acidosis, presence of organic acids in urine, liver problems, low blood sugar, fever, and coma. Treatments include a low-leucine diet supplemented with glucose and carnitine (McKusick 1966, 1990, 1998; www.ncbi.nim.nih.gov/ omim). Isobutyryl Coenzyme A Dehydrogenase Deficiency affects the breakdown of the amino acid valine. Symptoms include heart abnormalities and developmental delay. Treatments include a low-valine, low-protein diet with oral carnitine supplements. Finally, 3-Methylcrotonyl Coenzyme A Carboxylase Deficiency affects one of the subunits of the enzyme 3-methylcrotonyl coenzyme A carboxylase, which requires the vitamin biotin and which helps to breakdown the

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amino acid leucine. Symptoms include metabolic or keto-acidosis, vomiting, seizures, loss of hair, and possible mental retardation. A protein-restricted diet low in leucine and occasional supplementation with carnitine are treatments (McKusick 1966, 1990, 1998; www.ncbi.nim. nih.gov/omim).

14.3.5 Other Conditions Hemoglobinopathies, which include SickleCell Disease (Chromosome 11p15.5; OMIM® 603903) and Thalassemias (Alpha—Chromosome 16pter-p13.3; OMIM® 141800; Beta— Chromosome 11p15.5; OMIM® 141900), affect hemoglobin, which transports oxygen in the blood, reducing its capacity to transport needed oxygen to the cells and tissues of the body. Sickle-cell disease occurs in approximately one of every 400 births for persons of African descent, and one of every 1,500 births overall (www.marchofdimes.com). The various thallasemias occur in approximately one of every 250,000 births. Symptoms of hemoglobinopathies include coughing, anemia, abdominal and joint pain, and septicemia leading to death. Treatments include fetal hemoglobin stimulators such as hydroxycarbamide, decitabine, butyrate, folic acid, penicillin, and blood transfusions, although prognosis is poor (Trompeter and Roberts, 2008). Ironically, heterozygotes exhibit resistance to malaria (Gardner and Snustad 1984; Kaye 2006; McKusick 1966, 1990, 1998; www.ncbi.nim.nih. gov/omim; www.marchofdimes.com/peristats/ nbsdefinitions.aspx). Congenital Hypothyroidism (Chromosome 2q12-q14; OMIM® 218700) occurs roughly once every 4,000 births. It prevents production of transcription factors necessary for cellular differentiation of early embryonic endoderm cells to form thyroid gland follicular cells needed to produce the growth hormone thyroxine. The thyroid gland is poorly developed or absent, resulting in slowed growth, fatigue, and dry skin. Treatments include lifelong administrations of oral thyroxine (Kaye 2006; McKusick 1966, 1990, 1998; www.ncbi. nim.nih.gov/omim).


Galactosemia (Chromosome 9p13; OMIM® 230400) is a recessive autosomal mutation in the GALT gene-encoding galactose-1-phosphate uridylyltransferase, an enzyme that converts the sugar galactose into the usable body energy sugar glucose by transferring uridine monophosphate. The condition occurs approximately once every 50,000 births and must be detected and treated within 2 days of birth. Nontreatment of severe, or classical galactosemia (where both GALT alleles are mutated), can be fatal due to pediatric hyperammonemia or Escherichia coli bacterial septic shock, whereas milder forms might cause jaundice or liver damage. Lifelong treatment involves a reduced lactose-galactose diet (Kaye 2006; McKusick 1966, 1990, 1998; www.ncbi. nim.nih.gov/omim; www.marchofdimes.com/ peristats/nbsdefinitions.aspx). Biotinidase Deficiency (Chromosome 3p25; OMIM® 253260) occurs in approximately one of every 75,000 births. Its primary manifestation is poor recycling of the B vitamin biotin, an essential cofactor that helps carboxylase enzymes to breakdown the energy storage molecule adenosine triphosphate (ATP) for cellular processes. Symptoms include seizures, sensorineural deafness, optic nerve decay, skin and hair problems, and/or developmental delay (Kaye 2006). Treatment includes dietary biotin supplements that enable normal, lifelong functioning (Kaye 2006; McKusick 1966, 1990, 1998; www.ncbi.nim.nih. gov/omim; www.marchofdimes.com/peristats/ nbsdefinitions.aspx). Congenital Adrenal Hyperplasia (Chromosome 6p21.3; OMIM® 201910) is a mutation in the gene-encoding enzymes that synthesize cortisol. The condition causes the pituitary gland to overproduce adrenocorticotropic hormone and the gonads to overproduce male sex hormones. Symptoms include masculinization of females, testicular tumors in males, high blood pressure, low blood sugar, accelerated growth, and fever. Treatments include oral dexamethasone to inhibit the adrenal cortex activity (Forest et al. 1989; Kaye 2006; McKusick 1966, 1990, 1998; www. ncbi.nim.nih.gov/omim). Cystic Fibrosis (Chromosome 7q31.2, 19q13.1; OMIM® 219700) is a very serious

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condition where the infant has levels of sodium chloride in exocrine (i.e., ducted) glands, disruptions in fluid balance for exocrine and sweat glands, pancreatic ducts, autoimmune inflammation, and meconium ileus (i.e., bowel obstruction) such that bodily secretions are thick, often obstructing normal organ functioning (e.g., lungs, pancreas, intestines) throughout the body, further complicated with opportunistic bacterial infections (e.g., Pseudomonas species; Egan et al. 1995). The CF mutation affects a gene encoding a transport protein that normally moves fluid and sodium chloride across cell membranes. CF occurs in approximately one of every 4,000 births, although the incidence varies across different populations, with higher prevalence among Caucasians (McKusick 1966, 1990, 1998; www.ncbi.nim.nih.gov/omim). Improvements in treatments have included ameloride, uridine triphosphate, deoxyribonuclease, and lung transplants (Egan et al. 1995; Yankaskas et al. 1998). Consequently, lifespans for children with CF have advanced from the teenage years to 40+ years, with projections on survival for children with CF born in the 1990s reaching 50 years (Tuchman et al. 2010). Like children with CF, CSHCN with genetic or metabolic conditions are surviving to adulthood in greater numbers, so health care providers are now beginning to focus attention on transitions to adult health care, including attention to heightened risks for secondary conditions (e.g., diabetes, obesity, etc.) that are associated with certain disabilities (Crowley et al. 2011; Rimmer et al. 2010). Finally, a fatal condition that is not screened in newborns is one that should give us a sobering perspective on the extent of mutation, disability, nutritional treatments, and being human. Hypoascorbemia (Chromosome 8p21.1; OMIM® 240400), also called scurvy, is an autosomal recessive lethal condition that affects all humans, who cannot synthesize the enzyme L-gulonolactone oxidase, which converts L-gulonolactone to ascorbic acid (Vitamin C). Lethality is averted by lifelong dietary supplements of Vitamin C via consumption of fruits and green leafy vegetables. Therefore, everybody has this genetic condition

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and survives with proper nutrition (Nishikimi and Yagi 1991).

14.4 The Medical Home/Family Physician and Electronic Health Information The results of a newborn infant’s newborn screening test will yield a presumptive positive or negative for a given condition. If the infant is presumptive positive for a condition, it does not necessarily mean that the infant has the condition. Instead, the diagnostic laboratory must rapidly report the presumptive positive result to the infant’s pediatrician and to a licensed genetic pediatrician for immediate, more in-depth followup testing to verify or refute the presumptive positive diagnosis. Regardless of the presumptive positive result, the infant should receive immediate treatment for safety until the initial diagnosis is confirmed or refuted. Such approaches are especially critical for conditions with immediate serious effects (e.g., classical galactosemia, phenylketonuria). By 2011, most American states were consistent in the genetic or metabolic conditions screened during newborn screening. However, other nations and provinces within nations continue to vary in the conditions screened. Nevertheless, even in the United States, certain conditions such as Krabbe syndrome are not screened if approved treatments have not been developed (Gupta 2011). Such situations will continue to occur, often with controversy and inevitable, unfortunate tragic results for some infants, as public health genetic research continues to expand the numbers and types of conditions that can be screened. Still, the public health system should attempt to screen for as many genetic and metabolic conditions as possible in hopes of treatments being developed and to provide families with maximum options for their children receiving the best health care (Gupta 2011). The general public favors responsible use of genetic technology to improve public health, but they want appropriate testing that respects privacy and does not result in stigmatization or other negative impacts such as loss of employ-

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ment or insurance coverage (Genetics & Public Policy Center 2005). National efforts to increase the use of electronic health records by health care providers, insurers, and families are testing these issues to develop systems where families control their health records, although the finalization of these efforts is uncertain at present (Johnson 2001; Hollar 2009).

14.5 Nutrition and Genetics Many of the genetic and metabolic conditions described above impact some aspect of a biochemical pathway that involves a compound (e.g., amino acid, vitamin) obtained in foods. Consequently, treatments for conditions might require dietary supplementation of certain compounds and/or restriction of certain other compounds from the diet. Because the genetic conditions affect every cell in the body for all of human development, the dietary treatments almost always will be lifelong. Therefore, families of CSHCN with genetic or metabolic conditions must be aware of continuous proper care with a health care provider medical home that constantly provides them with appropriate supports and reminders of the importance of dietary treatments and continuous monitoring. The nutritionist is a central figure in the health care team for the treatment of genetic and metabolic conditions. The nutritionist appraises the family of the proper diet and the need for regular physician checkups. The nutritionist can assess CSHCN growth patterns and make recommendations for changes in the dietary supplements or restrictions that are necessary for the child to maintain normal development. Family adherence to the infant/child dietary regime is critical for healthy development so that the child can be successful and independent throughout life.

14.6 Genetic Counseling Accompanying the nutritionist on the CSHCN health care team is the genetic counselor, who can discuss overall treatment and scheduling for health evaluations/checkups as well as to encour-


age genetic testing of the parents, siblings, and other family members. The genetic counselor is most valuable in prenatal assessments of the probabilities that parents with genetic predispositions might give birth to a CSHCN having a genetic or metabolic condition. The field of genetic testing is growing, although participation is voluntary. The potential for widespread genetic screening can help families to understand their own lifespan health conditions and possibilities for certain conditions (e.g., breast cancer) to arise given the prevalence of specific genotypes and phenotypes in the family history. At the same time, the obvious health care potential of increased genetic testing is tempered by patient and family concerns for privacy and nondiscrimination as a result of positive genetic tests (Genetics & Public Policy Center 2005). Genetic counselors are highly trained and are certified by national testing. They work closely with the family medical home health providers to assist families with a variety of genetic evaluation services, including preconception planning as well as individual evaluations of risk. Genetic counselors usually are affiliated with state public health departments and with major, comprehensive medical centers. Families of CSHCN should consult their state health department for directories of genetic counselors or consult their family pediatrician and/or physicians for further information.

14.7 A Proper View of Human Variation and Respect for CSHCN Given the vast array of genetic and metabolic conditions that continue to expand as new discoveries are made and as new diagnostic technologies (e.g., Tandem Mass Spectrometry) develop, it is likely that more CSHCN with these conditions will be identified. In addition, the human genome contains over 30,000 functional protein-encoding genes plus potentially millions of alternative gene regulatory mechanisms (e.g., “noncoding” DNA, transposable elements, silent regulatory RNA molecules, alternative RNA splicing, etc.)

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such that every person will be unique along with potential genetic conditions that could strike at any time in the entire lifespan. Consequently, the field of genomics will continue to expand, and research on the treatment of genetic conditions promises to open new insights into the improvement of lifelong human health. With this realization that every person is mutant for at least a few genes, the ramifications for health insurance and stigmatization loom large (Carmichael 2011; Genetics & Public Policy Center 2005; Lewis et al. 2011; Nature 2011; Tarini et al. 2010). Therefore, genetic policy makers will need to emphasize the fact of genetic and environmental variation in the etiology of virtually every human condition. CSHCN are unique and should be provided every health benefit to optimize their success in life because ultimately, every person will have some genetic and/or environmentally induced disability that goes beyond “personal” responsibility or conduct.

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D. Hollar Ibdah, J. A., Bennett, M. J., Rinaldo, P., Zhao, Y., Gkibson, B., Sims, H. F., & Strauss, A. W. (1999). A fetal fatty-acid oxidation disorder as a cause of liver disease in pregnant women. The New England Journal of Medicine, 340, 1723–1731. Johnson, K. B. (2001). Barriers that impede the adoption of pediatric information technology. Archives of Pediatrics & Adolescent Medicine, 155, 1374–1379. Jones, P. M., Butt, Y., & Bennett, M. J. (2003). Accumulation of 3-hydroxy-fatty acids in the culture medium of long-chain L-3-hydroxyacyl CoA dehydrogenase (LCHAD) and mitochondrial trifunctional proteindeficient skin fibroblasts: Implications for medium chain triglyceride dietary treatment of LCHAD deficiency. Pediatric Research, 53, 783–787. Kamijo, T., Indo, Y., Souri, M., Aoyama, T., Hara, T., Yamamoto, S., Ushikubo, S., Rinaldo, P., Matsuda, I., Komiyama, A., & Hashimoto, T. (1997). Medium chain 3-ketoacyl-coenzyme A thiolase deficiency: A new disorder of mitochondrial fatty acid beta-oxidation. Pediatric Research, 42(5), 569–576. Kaye, C.I., & Committee on Genetics. (2006). Newborn screening fact sheets. Pediatrics, 118, 934–963. Koizumi, A., Nozaki, J., Ohura, T., Kayo, T., Wada, Y., Nezu, J., Ohashi, R., Tamai, I., Shoji, Y., Takada, G., Kibira, S., Matsuishi, T., & Tsuji, A. (1999). Genetic epidemiology of the carnitine transporter OCTN2 gene in a Japanese population and phenotypic characterization in Japanese pedigrees with primary systemic carnitine deficiency. Human Molecular Genetics, 8, 2247–2254. Kolker, S., Christensen, E., Leonard, J. V., Greenberg, C. R., Burlina, A. B., Burlina, A. P., Dixon, M., Duran, M., Goodman, S. I., Koeller, D. M., Muller, E., Naughten, E. R., Neumaier-Probst, E., Okun, J. G., Kyllerman, M., Surtees, R. A., Wilcken, B., Hoffmann, G. F., & Burgard, P. (2007). Guideline for the diagnosis and management of gultaryl-CoA dehydrogenase deficiency (glutaric aciduria type I). Journal of Inherited Metabolic Disease, 30(1), 5–22. Labrune, P., Perignon, J. L., Rault, M., Brunet, C., Lutun, H., Charpentier, C., Saudubray, J. M., & Odievre, M. (1990). Familial hypermethioninemia partially responsive to dietary restriction. Journal of Pediatrics, 117(2, Pt. 1), 220–226. Lamhonwah, A. M., Olpin, S. E., Pollitt, R. J., VianeySaban, C., Divry, P., Guffon, N., Besley, G. T., Onizuka, R., de Meirleir, L. J., Cvitanovic-Sojat, L., Baric, I., Dionisi-Vici, C., Fumic, K., Maradin, M., & Tein, I. (2002). Novel OCTN2 mutations: No genotype-phenotype correlations: Early carnitine therapy prevents cardiomyopathy. American Journal of Human Genetics, 111(3), 271–284. Lewis, M. H., Goldenberg, A., Anderson, R., Rothwell, E., & Botkin, J. (2011). State laws regarding the retention and use of residual newborn screening blood samples. Pediatrics, 127(4), 703–712. Maestri, N. E., Hauser, E. R., Bartholomew, D., & Brusilow, S. W. (1991). Prospective treatment of

14 Genetic and Metabolic Conditions for Children with Special Health Care Needs urea cycle disorders. Journal of Pediatrics, 119(6), 923–928. Marieb, E. N. (2001). Human anatomy & physiology (5th ed.). San Francisco: Benjamin Cummings. McKusick, V. A. (1966). Mendelian inheritance in man: Catalogs of autsomal dominant, autosomal recessive, and X-linked phenotypes, (1st ed.). Baltimore: Johns Hopkins University Press. McKusick, V. A. (1990). Mendelian inheritance in man: Catalogs of autsomal dominant, autosomal recessive, and X-linked phenotypes, (9th ed.). Baltimore: Johns Hopkins University Press. McKusick, V. A. (1998). Mendelian inheritance in man: Catalogs of autsomal dominant, autosomal recessive, and X-linked phenotypes (12th ed.). Baltimore: Johns Hopkins University Press. Naglak, M., Salvo, R., Madsen, K., Dembure, P., & Elsas, L. (1988). The treatment of isovaleric acidemia with glycine supplement. Pediatric Research, 24(1), 9–13. Nature. (2011). Editorial: There will be blood. Nature, 475, 139. Nishikimi, M., & Yagi, K. (1991). Molecular basis for the deficiency in humans of gulonolactone oxidase, a key enzyme for ascorbic acid biosynthesis. The American Journal of Clinical Nutrition, 54, 1203S–1208S. Pearson, H. (2002). Immunity’s pregnant pause. Nature, 420, 265–266. Pembrey, M. E., Bygren, L. O., Kaati, G., Edvinsson, S., Northstone, K., Sjostrom, M., Golding, J., & ALSPAC Study Team. (2006). Sex-specific, male-line transgenerational responses in humans. European Journal of Human Genetics, 14, 159–166. Pinna, A., Carru, C., Solinas, G., Zinellu, A., & Carta, F. (2007). Glucose-6-phosphate dehydrogenase deficiency in retinal vein occlusion. Investigative Ophthalmology & Visual Science, 48(6), 2747–2752. Pollitt, R. J., & Leonard, J. V. (1998). Prospective surveillance study of medium-chain acyl-CoA dehydrogenase deficiency in the UK. Archives of Dermatological Research, 79(2), 116–119. Qureshi, I. A., Letarte, J., Quellet, R., Batshaw, M. L., & Brusilow, S. (1984). Treatment of hyperargininemia with sodium benzoate and arginine-restricted diet. Journal of Pediatrics, 104(3), 473–476. Rimmer, J. H., Yamaki, K., Davis Lowry, B. M., Wang, E., & Vogel, L. C. (2010). Obesity and obesity-related secondary conditions in adolescents with intellectual/ developmental disabilities. Journal of Intellectual Disability Research, 54(9), 787–794. Ristoff, E., Mayatepek, E., & Larsson, A. (2001). Longterm clinical outcome in patients with glutathione synthetase deficiency. Journal of Pediatrics, 139(1), 79–84. Roche/Swiss Institute. (2011). ExPASy bioinformatics resource portal, biochemical pathway maps. Geneva: Swiss Institute of Bioinformatics. http://web.expasy. org/pathways. Accessed 8 Aug 2011. Rodes, M., Ribes, A., Pineda, M., Alvarez, L., Fabregas, I., Fernandez Alvarez, E., Coude, F. X., & Grimber,

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G. (1987). A new family affected by the syndrome of hyperornithinaemia, hyperammonaemia and homocitrullinuria. Journal of Inherited Metabolic Disease, 10(1), 73–81. Roe, C. R., Millington, D. S., Maltby, D. A., & Kinnebrew, P. (1986). Recognition of medium-chain acylCoA dehydrogenase deficiency in asymptomatic siblings of children dying of sudden infant death or Reye-like syndromes. Journal of Pediatrics, 108(1), 13–18. Stanley, C. A. (2004). Carnitine deficiency disorders in children. Annals of the New York Academy of Sciences, 1033, 42–51. Stryer, L. (1995). Biochemistry (4th ed.). New York: Freeman. Symonds, M. E. (2010). Epigenomics—Grand challenge: Much more than the developmental origins of adult health and disease. Front Genetics, 1, 1–2. Tarini, B. A., Goldenberg, A., Singer, D., Clark, S. J., Butchart, A., & Davis, M. M. (2010). Not without my permission: Parents’ willingness to permit use of newborn screening samples for research. Public Health Genomics, 13(3), 125–130. Testai, F. D., & Gorelick, P. B. (2010). Inherited metabolic disorders and stroke part 2: Homocystinuria, organic acidurias, and urea cycle disorders. Archives of Neurology, 67(2), 148–153. Thorpe, C., & Kim, J.-J. P. (1995). Structure and mechanism of action of the Acyl-CoA dehydrogenases. FASEB Journal, 9, 718–725. Treem, W. R., Stanley, C. A., & Goodman, S. I. (1989). Medium-chain acyl-CoA dehydrogenase deficiency: Metabolic effects and therapeutic efficacy of longterm L-carnitine supplementation. Journal of Inherited Metabolic Disease, 12, 112–119. Trompeter, S., & Roberts, I. (2008). Haemoglobin F modulation in childhood sickle cell disease. British Journal of Haematology, 144(3), 308–316. Tuchman, L. K., Schwartz, L. A., Sawicki, G. S., & Britto, M. T. (2010). Cystic fibrosis and transition to adult medical care. Pediatrics, 125, 566–573. Williams, R. J. (1956). Biochemical individuality. New York: Wiley. Wolpert, L., Tickle, C., Lawrence, P., Meyerowitz, E., Robertson, E., Smith, J., & Jessell, T. (2011). Principles of development (4th ed.). New York: Oxford University Press. Wong, P., Lessick, M., Kang, S., & Nelson, M. (1989). Maternal hyperornithinemia-hyperammonemiahomocitrullinuria (HHH) syndrome. American Journal of Human Genetics, 45(Suppl.), A14. Yankaskas, J. R., & Mallory, G. B., Consensus Committee. (1998). Lung transplantation in cystic fibrosis: Consensus conference statement. Chest, 113, 217–226. Zschocke, J., Quak, E., Guldberg, P., & Hoffmann, G. F. (2000). Mutation analysis in glutaric aciduria type I. Journal of Medical Genetics, 37, 177–181.

Development from Conception through Adolescence: Physiological and Psychosocial Factors Impacting Children with Special Health Care Needs

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David Hollar

Abstract

Human development for children with special health care needs (CSHCN) can be approached from purely psychological/psychosocial or physiological perspectives. Nevertheless, both of these developmental perspectives are rooted in the combined genetic, epigenetic, and environmental factors that uniquely shape each individual. With advances in genomics, we are finding that every person experiences disability and special needs, whether major or minor in extent, and that childhood and adolescent physiology and behaviors derive from events in utero and even earlier in the individual’s ancestry. Therefore, we start with theories of psychosocial development, mostly nonbiological in scope, then trace back to physical development from conception to birth, and conclude with a summary of “birth defects,” that is, conditions monitored by public health systems and that arise from genetic, cell division, or environmental exposures in utero that impact later physical and psychosocial development. The ultimate goals are to illustrate Wilson’s consilience concept as applied to human development as well as contextual, biopsychosocial approaches (e.g., the International Classification of Functioning, Disability and Health) towards improving CSHCN life outcomes from social and community perspectives. Abbreviations

CDC Centers for Disease Control and Prevention CSHCN Children with Special Health Care Needs DNA Deoxyribonucleic Acid DSM-IV Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition ICF International Classification of Functioning, Disability and Health

D. Hollar () University of North Carolina at Chapel Hill, CB 7530, Chapel Hill, NC 27599, USA e-mail: [email protected], [email protected] D. Hollar (ed.), Handbook of Children with Special Health Care Needs, DOI 10.1007/978-1-4614-2335-5_15, © Springer Science+Business Media New York 2012

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NBDPN National Birth Defects Prevention Network NCBDDD National Center for Birth Defects and Developmental Disabilities NORD National Organization for Rare Disorders OMIM Online Mendelian Inheritance in Man RNA Ribonucleic Acid WHO World Health Organization

15.1 Introduction Traditionally, teaching and research involving the critical events of lifelong development have followed separate mind and body pathways despite the fact these processes are one (Wilson 1998). As separate disciplines, educators and psychologists typically emphasize the psychosocial path, whereas anatomists, clinicians, and health care providers follow the more structural, physiological pathway. Neither group achieves full understanding of the multivariate factors that continuously impact human development, even though many events occurring at critical transition stages, some being predominantly biologically defined, others being mostly socially or environmentally influenced. Consequently, researchers and policy makers on children with special health care needs (CSHCN) are increasingly using biopsychosocial models such as the International Classification of Functioning, Disability, and Health (ICF; Depoy and Gilson 2004; Simeonsson and Boyles 2001). Furthermore, a growing body of research demonstrates strong neurological, genetic, epigenetic, social, environmental, and physiological intercorrelations during human development (Gluckman et al. 2009; Pembrey et al. 2006; Symonds 2010; Wilson 1998; Wolpert et al. 2011). Therefore, the primary objective of this chapter is to outline and integrate major theories and objective physical conditions as related to critical stages in physical and psychosocial development for children with special health care needs.

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15.2 Theories of Developmental Psychology 15.2.1 Psychosocial Cognitive Development Major theories of psychosocial development for CSHCN include various models of cognitive development (Miller 1993; Newman and Newman 1991). Theories include Jean Piaget’s cognitive change theory, which describes four principal stages (Piaget 1954; Haber 1997; Miller 1993): 1. Sensorimotor stage, during which the child develops (approximately birth through age 1–2 years) an understanding of the relationship between self, others, and the environment via exploration using the senses. 2. Preoperational stage, during which the child develops (approximately age 2–7 years) mental concepts, relates symbols to real objects, engages in play, and rapidly acquires and uses language with an expanding vocabulary. 3. Concrete operations stage, during which the child develops (approximately age 7–12 years) higher-level cognitive functions, including abstract thinking and mathematical operations. 4. Formal operations stage, during which the child develops (approximately age 12 years into early adulthood) further higher level of cognitive and reasoning functions. Piaget’s cognitive processing theory treats child psychological development as an active, participatory process that provides feedback for the child to establish self-regulation. The theory is general and outlines a rough sketch of cognitive development that has been followed by other psychologists. Sigmund Freud proposed a psychosexual development theory that paralleled Piaget’s temporal sequence of stages but that was focused upon sensation, muscular control, sexual identification, repression, and exploration (Haber 1997; Miller 1993). One of Freud’s students, Erik Erikson, diverged from this direction with a psychoanalytic, eight-stage theory that emphasized childhoodadolescence but that compassed the entire lifespan (Erikson 1997). Erikson’s approach centered

15 Development from Conception through Adolescence: Physiological …

about crises confronting the self (e.g., intimacy versus isolation) that the individual resolves in various manners as they mature. Whereas Erikson expanded Freud’s views of individual psychological development as being dependent upon conflicting feelings, repressed energy, and crises, he placed more emphases upon social interactions and less upon psychosexual feelings. Freud’s psychoanalytic theory has been mostly rejected by modern child psychology researchers, who instead have embraced theories that rely more strongly on social interaction and learning experiences (Miller 1993). Albert Bandura’s social learning theory reinforces many of these social-environmental concepts that are a forerunner of the new biopsychosocial models for studying and helping CSHCN. Like Freud, Bandura recognized human drives such as aggression, but along the same lines as Erikson and Piaget, he proposed four self-regulatory processes that promote CSHCN cognitive development: (a) attention processes, (b) retention processes, (c) production processes, and (d) motivational processes (Bandura 1977; Miller 1993). While not staged, Bandura’s theory has applications to lifelong development and learning.

15.2.2 Moral Development and Maturing Piaget and Erikson both address topics related to rule-based behaviors in child development, and several theorists have further developed these ideas further along maturational stages. Lawrence Kohlberg proposed a three-stage theory, with substages, that address individual acquisition and acceptance of social rules and respect for authority (Kohlberg 1973; Haber 1997): 1. Premoral Stage a. Obedience and Punishment Orientation, where the child learns to recognize incorrect behaviors and the consequences thereof. b. Instrumental Relativist Orientation, where the child mentally establishes differences between “right” and “wrong.”

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2. Conventional Morality Stage a. Interpersonal Concordance Orientation, where the child recognizes others and develops positive social relationships with them. b. Orientation toward Authority, where the child recognizes authority figures, laws, and personal duties to society. 3. Principled Moral Reasoning Stage a. Social Contract Orientation, where the child reaching adulthood firmly embraces the “social contract” in all interpersonal interactions. b. Universal Ethical Principles Orientation, where the child reaching adulthood has developed an overall philosophy that applies respect toward people and social systems in general. Kohlberg’s (1973) posits that children progress through these stages, premoral to principled, at various but fairly systematic rates as they mature, learn, and interact with parents, family, peers, and other children in school and various social situations. One of Kohlberg’s followers, Carol Gilligan, used a strongly feminist approach to study moral development. Gilligan (1982) developed an approach that emphasized differential expression of empathy between female and male children, with girls developing stronger moral and empathetic attitudes toward interpersonal relationships earlier and growth of these capacities in all children during adolescence. In a similar sense, Gibson (1991) combined several of these ideas to promote a perceptual development theory (Miller 1993) in which children develop spatiotemporal cognitive schemes and models of reality based upon their active interactions with people, objects, and events in their contact environment. Gibson’s (1991) theory is not staged, although she argues that perception does develop during growth and that learning relies strongly on stimulation and active learning. Similarly, Lev Vygotsky (1978) proposed a widely adopted contextualist theory that children behave and learn through social contexts, cultural contexts, language, and tool use. Vygotsky’s theory again strongly illustrates the importance of social-environmental interactions

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and progressive, individualized developmental pace (Miller 1993). In contrast, behavioral theorists such as B.F. Skinner and sociobiologists/evolutionary psychologists such as Edward O. Wilson argue that it is the interplay of genetic predispositions and environmental interactions that define individual development. Whereas behaviorists and information processing theorists such as Atkinson and Shiffrin (1969) used a computer/artificial intelligence model to explain how the child’s mind develops, senses, remodels, and adopts sociocultural knowledge and beliefs, a growing body of research (Diamond and Amso 2008) supports this mechanistic development of the brain as well as Wilson’s (1975, 1998) correct premise that genes and environment both strongly and interconnectedly contribute to cognitive development while addressing the premolecular biological theories of development (e.g., Piaget, Erikson, etc. above) that focused on environmental interactions. For late adolescent and adult development, several theorists besides Kohlberg outlined stage and semistage theories for cognitive and social development among college students on into adulthood. Heath (1968) stressed a strongly environmental college student development model in which student’s matured by developing strong interpersonal relationships and strengthened their academic and personal self-concepts (Evans et al. 2009). Perry’s (1970) theory of ethical development during college years described a nine-stage process during which late adolescents/young adults learn to integrate knowledge with the goal of making logical decisions, including assessment of alternatives and bearing responsibility for decision outcomes. Likewise, Chickering (1993) proposed a seven-phase model of college student cognitive development that addresses the balancing of achievement and emotions while developing proper interpersonal relationships and establishing purpose in life. Finally, Kegan (1982) provided an Eriksonian-type lifelong development theory that stresses staged movement from early reactions to the environment toward awareness of surroundings and development, change, and stabilization of new interpersonal relationships throughout life.

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15.2.3 Cognitive Development and Self-Concept Each of these theories of cognitive development considers the individual’s perceptions and reactions to the environment, which includes an expanding array of family, peers, authority figures, other individuals, experiences, culture, and events throughout life. The theories are general and overlapping with different emphases, so they may apply in a variety of different ways to each unique individual, even for identical (i.e., monozygotic) twins. Furthermore, the plethora of psychometric instruments that aims to assess these different behavioral components of cognitive development have strong validities but have trouble generalizing to a vast universe of differential personal experiences (Goldman and Mitchell 2007; Messick 1988). The theories stress the importance of the individual gaining knowledge, understanding of actions and consequences, appropriate behaviors and roles in society, and achievement of stability (i.e., maturity) via selfreliance and the maintenance of at least several strong interpersonal relationships. This last component is emphasized via Heath’s (1968) focus on the development of self-concept, a sense of one’s place in the world and the capacity to succeed in life. Shavelson et al. (1976) developed and validated a model of general self-concept that incorporates academic, emotional, social, and physical self-concepts and that has been subsequently validated by other researchers (Byrne 1996; Hattie 1992). The self-concept models support a dynamic, contextual approach to learning that contrasts facilitators and barriers in the student’s social environment. Furthermore, Marsh and Craven (2006) posited that academic self-concept and achievement are reciprocal causes and effects of each other. Marsh and O’Mara (2008) tested this model with Youth in Transition student data, finding that high school grade point averages and postsecondary educational attainment significantly predicted subsequent academic self-concepts, which in turn significantly predicted subsequent high school grade point averages or postsecondary educational attainment.


Covington (1992) makes a compelling case for educational systems that promote children’s selfworth (i.e., self-concept) with low fear of failure in order to improve school and social achievement. Martin (see Chap. 3, this book as well as Marsh et al. 2006) for a detailed account of the importance of self-concept for CSHCN. The emphases upon developing friendships and meaningful interpersonal relationships that have been highlighted in Erikson (1997), Kohlberg (1973), Chickering (1993), and Kegan’s (1982) development theories are important for CSHCN because strong social supports improve health and other life outcomes and because youth with disabilities are at increased risk for developing secondary health conditions and for engaging in negative risk behaviors (Hollar and Moore 2004). Furthermore, Seeman et al. (2002, 2004) provided evidence that individuals with fewer than three friends exhibited significantly high risks for heightened allostatic (i.e., stress) load, morbidity, and mortality. The contextual nature of human development and human uniqueness has been incorporated into tools used to evaluate disability, facilitators, barriers, conditions, and social participation among CSHCN. The most notable such contextual tool is the International Classification of Functioning, Disability, and Health (ICF), a hierarchical device that can evaluate any person with or without a disability plus the personal, social, and environmental factors that impact the CSHCN (Depoy and Gilson 2004; Simeonsson and Boyles 2001; WHO 2001). The adult ICF (WHO 2001) has been modified and validated for infant, child, preadolescent, and adolescent versions (ICF-Children and Youth; Lollar and Simeonsson 2005; Simeonsson et al. 2003). Theories of cognitive development and the ICF can be used to evaluate CSHCN as they develop. Depending upon the parameters being assessed, CSHCN may exceed or fall below expected developmental curves, however general, for children without disabilities. Whereas cognitive psychologists utilize criteria such as the ICF and the Diagnostic and Statistical Manual of Mental Disorders (DSM-IV; American Psychiatric Association 2000) for evaluating various

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aspects of child cognitive and psychosocial development, the ICF is more widely used in Europe and the DSM-IV does not utilize standardized growth curves that have been validated with large populations. Consequently, CSHCN can be misdiagnosed, so practitioners should thoroughly evaluate CSHCN over time to determine intervention needs and if the child might overcome perceived developmental deficiencies to the level of children without disabilities. In any case, each CSHCN is unique. The developmental theories further demonstrate the importance of both genetics and environment in shaping development, although the environmental experience component has more widely been used by researchers until the expanded availability and ease of use of molecular biological technologies beginning in the late 1990s. Even so, the uniqueness of each individual, both genetically and experientially, is staggering (see Chap. 14, this volume). To date, researchers have focused primarily on behavioral conditions, genetic and metabolic inherited conditions (see Chaps. 13, 14), and birth defects discussed in Sect. 15.4. This last category falls under the scope of development because it constitutes physical developmental processes, some inherited, others environmentally impacted, that arise during critical developmental events when the child is inside its mother and that ultimately contribute to cognitive developmental problems later in childhood and adolescence.

15.3 Return to the Beginning: Conception and “Normal” Human Physical Development Human development beings once a sperm containing 23 paternal chromosomes fuses with a much larger egg containing 23 maternal chromosomes plus energy-generating mitochondria, nutrient reserves, and proteins/enzymes that regulate genes located on the now 23 pairs of chromosomes in the nucleus of this first cell, the zygote. The gene regulatory changes set in motion a cascade of cellular events that lead to a cell division to produce two cells with specific events

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occurring in those two cells for division to produce four cells, and so on. These early multicellular stages of the developing embryo start in the upper one-third of the mother’s fallopian tube, where fertilization usually occurs. Thousands of tiny cilia along the inner lining of the fallopian tube gradually move the dividing cells of the early embryo down to the uterus, where further division and implantation in the uterine lining will start the gestational period (i.e., pregnancy). From the very beginning, the expressed genes in the cells of the developing embryo begin to be differentially controlled based upon positional information (e.g., regulatory proteins, RNAs, small molecules such as cyclic Adenosine Monophosphate) and growth factors (e.g., fibroblast, epidermal, insulin-like, platelet-derived growth factors) that were present in the unfertilized egg before fertilization and that continue to be present and to change as various cells in the early embryo commit to specific developmental pathways (e.g., to become a blood vessel, an organ, tissue layer, etc.), processes termed determination and differentiation (Wolpert et al. 2011). These events are critically timed for proper cell divisions and developmental commitments to occur, and they depend on previous events starting all the way back to the gene regulatory information in the egg. Consequently, disruptions to maternal health, including stress, nutrition, medications, substance use, exposure to environmental chemicals and pathogens, can reach the developing embryo via the mother’s bloodstream and nervous system, with these agents diffusing into the fallopian tubes or uterus surrounding the embryo. Such effects will continue throughout the pregnancy, as the embryo will be exposed to at least some degree everything that the mother experiences. Most importantly, the impact of these agents and events upon the embryo will be greatest during the early developmental stages that set the foundation for all subsequent human development and tissues for the entire lifespan, not including the events that the child will experience from birth onward. Furthermore, evidence indicates that an individual’s development can be genetically impact-

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ed by exposures to famine and other experiences encountered by an individual’s grandparents (Pembrey et al. 2006)! These transgenerational epigenetic effects occur via methylation of specific DNA sequences in genes (Fraga et al. 2005; Symonds 2010) that can be maintained and transmitted in sperm and egg. This discovery leaves us with a sobering realization: our experiences and exposures to chemicals and events can affect our descendants over many generations (Pembrey et al. 2006). There is additional evidence that immune system molecular incompatibilities between mother and father can severely impact a pregnancy (Pearson 2002). A human pregnancy typically lasts for 9 months (i.e., approximately 270 days), and is arbitrarily divided into three, 3-month periods called trimesters. It is the first trimester when major developmental events and the building of all body tissues and organs occur, although the final two trimesters are needed for finalization of body structures and their growth to functioning and integrated status for full survival. Therefore, the mother must provide the greatest protection to the embryo during the first trimester, and especially during the early first trimester. Unfortunately, because of the small embryo size and the lunar menstrual cycle, the mother might not be aware of the pregnancy for at least 1 month, during which the unborn child develops all organs. Therefore, maternal and child health programs need to educate mothers and families for healthy living at all times during the reproductive years. Even with healthy living, it is possible for mothers to give birth to children with birth defects (described in Sect. 15.4), genetic/metabolic conditions (see Chaps. 13, 14), or behavioral conditions (e.g., deviations from psychosocial theories described above). A vast array of genetic and environmental factors can produce such conditions, with the child experiencing a disability or other special health care need. Occasional miscarriages are often due to birth defects, especially for chromosome abnormalities, and many miscarriages early in development go undetected and are missed as a routine menstrual period (Yang et al. 2006). Whereas research has demonstrated increased risk for poor infant health outcomes


when the mother engages in substance abuse, poor nutrition, and limited prenatal health care (Kogan et al. 1994), assigning blame to parental behaviors in many instances might be fallacious given the complexity of cause and effect relationships and the myriad stress and uncontrollable environmental exposures that every person experiences.

15.3.1 First Trimester The first 2 months of development can be classified into 23 Carnegie Classification stages (O’Rahilly and Muller 1996). Stage 1 is fertilization. Stage 2 lasts through day 3 and involves uneven cell divisions up to a 16-cell embryo that is moving down the fallopian tube toward the uterus. During stages 3–4 (days 4–6 of development), the embryo is a hollow ball of perhaps 100–200 cells termed a blastocyst with a diameter of approximately 0.2 mm (O’Rahilly and Muller 1996; Wolpert et al. 2011). A large portion of the blastocyst cells represent trophectoderm tissue that will develop into nonembryonic support tissues such as the placenta. The placenta will serve not only for oxygen and nutrient transport to the embryo as well as waste removal; it will play a major role in the chemical events that influence embryonic development. For example, the placenta will take some of the amino acid tryptophan from the maternal blood and use it to manufacture the hormone serotonin that will enter the embryo’s blood and trigger brain development (Bonnin et al. 2011; McKay 2011). During a lengthy stage 5 (days 7–12 of development), the true embryonic cells representing the epiblast of the blastocyst fold inward to produce a gastrula/trophoblast that is solid throughout, thereby generating three embryonic tissue layers: ectoderm (i.e., outer layer), mesoderm (middle layer), and endoderm (inner layer). The ectoderm will give rise to skin and nerve tissue; the mesoderm will give rise to all muscles, the skeleton, circulatory system, and kidneys; and the endoderm will give rise to all other internal organs (e.g., lungs, intestines; Wolpert et al.

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2011). To conclude stage 5, the trophectoderm will fuse with the uterine lining to begin the pregnancy, which will be maintained by hormonal signals from the embryo proper to the mother’s pituitary and adrenal glands for her to produce high levels of progesterone. The embryo will be further supported and protected by the trophectoderm-derived amniotic cavity. By stages 6–7 (days 13–22), the embryo consists of thousands of cells that are disproportionately arranged to begin formation of body tissues and organs. The embryo is approximately 0.4 mm in diameter, and a primitive notochord (i.e., nerve cord) that is the precursor to the spinal cord has formed. Blood cell production begins in the extraembryonic tissues, and blood vessels begin to form and deliver blood to the embryonic tissues. With implantation in the uterine lining, the extraembryonic trophectoderm begins to form the umbilical cord, arteries, and veins for transplacental transport of nutrients and waste to and from the maternal circulatory system (O’Rahilly and Muller 1996). The blood cell-producing hematopoietic stem cells in the extraembryonic tissues will later migrate to the developed thymus gland, spleen, and liver, later settling in the bone marrow (Knapp 1998; Petrie et al. 2009). The median pharyngeal groove will split and fold into tissues that will separate into the esophagus and trachea (Kovesi and Rubin 2004). The anterior (i.e., front toward the head) portions of the notochord will fold and subfold to begin formation of the brain during stage 8 (approximately 23 days). The process of tissue folding is critical to much of tissue and organ development as well as continued changes in programmed gene regulation leading to cell division, determination of tissue and subtissue types, and final differentiation into permanent tissues. Apoptosis, or programmed cell death, will occur in some locations because, as prestructures form, certain areas of those prestructures die to achieve final shape and form. For example, three primitive, nonfunctional embryonic kidneys (i.e., pronephros, mesonephros, metanephros) develop during the first 21 days of development, with the pronephros degenerating and part of the mesonephros being redirected to form parts of the

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reproductive system and the metanephros advancing to eventually become the infant/adult kidneys (O’Rahilly and Muller 1996; Wolpert et al. 2011). During stage 9 at about 25 days postfertilization, somites first appear. Somites are distinguishable blocks of mesodermal tissue that emerge in pairs beside the notochord on the back of the embryo. The somites will differentiate into the vertebrae, skeletal muscles supporting the vertebrae and ribs, and the dermal layer of the skin. The vertebrae will not calcify at this point, but instead they will develop mainly from cartilage. The major brain regions (cerebrum, cerebellum, brain stem) are distinguishable at stage 9, and the heart begins to form from the fusion of major veins (O’Rahilly and Muller 1996). By stage 10 (about 28 days), the heart has started beating and pumping blood through the embryonic circulatory system, further brain folding and anterior notochord folding gives rise to optic (i.e., eye), otic (i.e., ear), thyroid, and prerespiratory tissue (i.e., air sacs for lungs) buds, and the embryo is approximately 3.5 mm long (O’Rahilly and Muller 1996). By the end of stage 12 (30 days), upper limb buds and the lung bud form, and there is further nerve cord folding to form the spinal cord and lateral nerves with surrounding protection by the beginnings of the cartilaginous vertebral column. All four limb buds and substantial development of the eyes and ears occur by the end of stage 14 (33 days; O’Rahilly and Muller 1996). During stages 15–17 (days 36–41), the embryo doubles in length from approximately 7 to 14 mm. Lung lobes begin to form, fingers begin to develop in the hand plate (via apoptosis of intervening segments), and the foot plate appears. The eye and ear components develop in greater detail, including refinement of the optic lens and the deposition of pigment into the retina. The embryonic head is pronounced with distinctive brain regions and hemispheres, and cartilage-producing chondrocytes deposit cartilage in the future vertebral column and limb bones (O’Rahilly and Muller 1996). The embryo increases in length to almost 18 mm during stages 18–19 (days 44–46). Eyes

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and ears continue to grow, toes form in the foot plate, and some bones begin to ossify (O’Rahilly and Muller 1996). Most notably, the heart chambers are established even after its beginning to beat earlier in development, although there is an opening termed the foramen ovale between the right and left ventricles. The foramen ovale is worth noting because of its involvement in several birth defects. In adults, the right heart chambers move deoxygenated blood from the body to the lungs, whereas the left chambers move oxygenated blood from the lungs out to the rest of the body. As the lungs will not be fully developed until the late third trimester and as the unborn child receives continuous oxygenated blood from the mother across the placenta via the umbilical vein, the foramen ovale remains open, thereby allowing blood mixing between the right and left ventricles until birth, when tissue closes and seals the foramen ovale. Failure of foramen ovale closure at birth and related heart development malfunctions (e.g., interatrial and interventral septal defects, heart vessel transpositions, etc. described below) can create life-threatening postnatal conditions. During stages 20–21 (days 49–51), cranial, spinal, and perpetual nerves innervate much of the body, including the major organs such as the eye, brain, and liver. The metanephros is growing into the future kidneys, with each prekidney growing with increasing thousands of blood filtration subtissues termed glomeruli. The arms and legs increase in length during this stage, and the fingers and toes can be identified. The gonads, undifferentiated until 5–6 weeks, commit to ovarian or testicular development by this stage. In females, the ovary will generate seven million primary oocytes before the end of the first trimester, and these oocytes will be suspended in meiotic prophase I until puberty, many suspended all the way to menopause. Testicles in males will not form sperm until puberty (O’Rahilly and Muller 1996). During the final Carnegie embryonic stages 22–23 (days 53–56), all organs and extended body structures will have formed, although many organs and organ systems (e.g., lungs, kidneys) will not have achieved full growth and functioning for all organ components. The embryo will be


approximately 27–31 mm long, and the head will represent almost half of the body length. Major endocrine organs, particularly the pituitary-hypothalamic axis, will form by the end of stage 23 (O’Rahilly and Muller 1996). The end of stage 23 represents the beginning of the fetal period to complete the last month of the first trimester and continue until birth. The first 2 months of physical development involves an incredibly complex sequence of events. Any disturbance in one or several of these developmental events can have a lifelong impact on the eventual child and adult.

15.3.2 Second Trimester During the second trimester, the unborn child continues to grow, and the major organs and organ systems complete their development. The approximately 206 skeletal bones grow, beginning mostly as cartilage followed by ossification with bone tissue. The blood cell-producing hematopoietic stem cells finish their migration to the red bone marrow of flat bones such as the ribs, where they will continue blood cell production for the duration of the lifespan. External reproductive structures are visible by the end of the second trimester. Consequently, any reproductive birth defects (described in Sect. 15.4) can be identified via ultrasonography. The bone structures of the face and skull become more refined during this period. Nerves and blood vessels fractally extend throughout the body, to and from every region and organ, covering thousands of miles in extent. Each lung’s alveoli for gas exchange and kidney’s glomeruli for blood filtration number over one million. By the end of the second trimester, the baby is marginally capable of survival outside the mother if born prematurely. At this stage, survival is contingent upon finalization of structural features of the heart (e.g., closure of the foramen ovale), molecular changes in brain and blood chemistry, and improvement of lung alveolar pressure capacity via chemical surfactant (O’Rahilly and Muller 1996; Wolpert et al. 2011).

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15.3.3 Third Trimester and Birth During the third trimester, the lungs and kidney become fully functional, although the lungs will not be utilized until birth. The body dramatically increases in size with substantial brain growth, such that the head represents about 40% of the body. The bone growth in the thoracic cavity, vertebrae, arms, and legs continues, although the skeleton still will be over 50% cartilage at birth. During birth, the baby’s head will press against the mother’s cervix, triggering cyclically more intensive production of oxytocin from the mother’s pituitary gland, providing positive feedback for more frequent contractions leading to expulsion of the baby from the uterus at birth (O’Rahilly and Muller 1996). At birth, the infant typically averages 48–52 cm (19–20 in.) length and 2.7–3.6 kg (5.7– 7.6 Lbs) weight (Knapp 1998). Furthermore, numerous studies (Wilcox 2001) have shown that birth weight is a more reliable indicator of premature births than estimated gestational age, with low birth weight (i.e., preterm) being designated at less than 2.5 kg (Chase and Byrnes 1972).

15.4 Birth Defects The birth pediatrician and health care team are the best source for information, health care, and guidance on birth defects and their proper treatment. Major resources for information on diagnosed birth defects include the following institutes and organizations: • National Organization for Rare Disorders (NORD; www.rarediseases.org). • National Birth Defects Prevention Network (www.nbdpn.org). • Centers for Disease Control and Prevention (www.cdc.gov). • National Center for Birth Defects and Developmental Disabilities (www.cdc.gov/ncbddd). • World Health Organization (WHO; www. who.int). • March of Dimes (www.marchofdimes.org). • Family Voices (www.familyvoices.org).

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In the United States, the National Birth Defects Prevention Network (2003; www.nbdpn. org) collects data on over 40 conditions; they are grouped by major body/functional area in Table 15.1. Major categories are: (1) heart, (2) brain/neural tube, (3) neurological/sensory, (4) orofacial, (5) abdominal, (6) gastrointestinal, (7) reproductive, (8) chromosome, and (9) limb morphology conditions. These 40 conditions are by no means exhaustive, and they pale in comparison to the hundreds of genetic/metabolic conditions, some of which are described in Chap. 14.

15.4.1 Heart Conditions Twelve major heart conditions include aortic valve stenosis, atrial septal defect, coarctation of the aorta, common truncus arteriosus, Ebstein’s anomaly, endocardial cushion defect, hypoplastic left heart syndrome, pulmonary valve atresia and stenosis, Tetralogy of Fallot, transposition of the great arteries, tricuspid valve atresia and stenosis, and ventricular septal defect (Table 15.1). Aortic valve stenosis involves a narrowed opening for blood flow into the aorta from the left ventricle of the heart; it requires surgical correction (Hinton et al. 2007). Atrial septal defect is a malformed septum separating the right atrium from the left ventricle near the tricuspid valve, which causes inefficient mixing of deoxygenated and oxygenated blood. The infant will have bluish skin (i.e., cyanosis), difficulty breathing, and will require heart surgery to correct the condition (Singh et al. 2011). Coarctation of aorta involves severe narrowing of the aorta, the largest body artery exiting the heart for delivery of oxygenated blood to all body tissues. Infants suffer hypoxia and poor circulation. The condition is treatable with the heart surgery and insertion of a stent to widen the aortic opening. The treatment sometimes is performed on adults with this condition, but normally is performed on children (Mohan et al. 2009). Common truncus arteriosus occurs when there is failure of the separation of the common trunk from which the aorta/coronary arteries and pulmonary arteries exit the heart. There is improper

D. Hollar Table 15.1 Major birth defects tracked by the National Birth Defects Prevention Network Heart

Aortic valve stenosis Atrial septal defect Coarctation of aorta Common truncus arteriosus Ebstein’s anomaly Endocardial cushion defect Hypoplastic left heart syndrome Pulmonary valve atresia and stenosis Tetralogy of fallot Transposition of the great arteries Tricuspid valve atresia and stenosis Ventricular septal defect Brain/neural tube Anencephalus Encephalocele Anophthalmia Microphthalmia Hydrocephalus without spina bifida Spina bifida without anencephalus Neurological/sensory Fetal alcohol syndrome Vision Hearing Orofacial Amniotic band syndrome Anotia Microtia Choanal atresia Cleft lip with and without cleft palate Cleft palate without cleft lip Abdominal Bladder extrophy Diaphragmatic hernia Gastroschisis Omphalocele Gastrointestinal Biliary Atresia Esophageal atresia Tracheoesophageal fistula Rectal and large intestinal atresia and stenosis Renal agenesis/hypoplasia Reproductive Hypospadias Epispadias Cryptorchidism Chromosome Trisomy 21 Trisomy 13 Trisomy 18 Limb morphology Reduction deformity


mixing of oxygenated and deoxygenated blood, resulting in reduced/inefficient delivery of oxygenated blood to body organs and tissues. The condition has been attributed to chromosome deletions in chromosome 22q11, like many congenital heart conditions, and it often is fatal early in infancy but can be treated surgically with positive developmental results (Hawkins et al. 2010). Ebstein’s anomaly is a malformation of the tricuspid valve, which regulates flows of lowoxygenated blood returning from the body between the right atrium and right ventricle before going to the lungs for oxygenation. The poor blood transfer results in a cyanotic (bluish) appearance, difficulty breathing, and vein pulsations, together leading to death. The condition can be surgically corrected (van Son et al. 2001). Endocardial cushion defect a developmental defect where there is abnormal cell migration to properly form the heart valves and septa that separate the right and left atria and ventricles. Approximately 5% of children have this or another heart defect at birth, and this defect as in others requires early surgical intervention to reconstruct the septa and/or valves (Stevens et al. 2008). Otherwise, there is inadequate blood flow through the heart, further potentially impacting oxygen delivery to tissues, contributing to laterlife complications and/or death. Hypoplastic left heart syndrome is a malformation of the left heart chambers, including the bicuspid (i.e., mitral) and aortic valves. It is inherited (Chromosome 6q21-q23.2; OMIM® 241550 (McKusick 1966, 1990, 1998; www. ncbi.nim.nih.gov/omim)). Pulmonary valve atresia and stenosis occurs approximately once in 22,000 pregnancies and can be identified prenatally. Atresia involves a missing pulmonary valve preventing controlled blood flow to the lungs, whereas stenosis involves a constricted pulmonary artery preventing adequate blood flow to the lungs. Parents are advised to consult their pediatrician for options for the pregnancy and long-term outcomes, which are poor. (Gardiner et al. 2008). The Tetralogy of Fallot is a set of heart conditions, including pulmonic stenosis, atrial septal defect, and/or right ventricular hypertrophy.

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Symptoms include reduced left ventricular systolic function for delivering oxygenated blood out to the body, with heart surgery necessary to reduce the mortality risk (Muzzarelli et al. 2011). Transposition of great arteries describes several conditions where the aorta and pulmonary arteries are switched, resulting in fatal transport of deoxygenated blood to the body tissues following birth. The condition can be surgically treated, although complications, death, and cardiac anomalies can persist, but treated patients have been successfully followed into adolescence (Gorler et al. 2011). In tricuspid valve atresia and stenosis, there is a missing or abnormal tricuspid valve that normally separates the right atrium and ventricle. The malformation prevents proper blood flow. Atresia involves a missing tricuspid valve preventing controlled blood flow through the right heart chambers, whereas stenosis involves a constricted valve preventing adequate blood flow to the right ventricle and to the lungs (Gardiner et al. 2008). Finally, ventricular septal defect involves an opening between the two ventricles, enabling mixing of deoxygenated and oxygenated blood for poor tissue delivery and cyanosis. If not treated surgically, death can occur within 2 months (Thiele et al. 2009).

15.4.2 Brain/Neural Tube Conditions Brain and neural tube conditions include anencephaly, anophthalmia, microthalmia, encephalocele, hydrocephalus without spina bifida, and spina bifida without anencephalus. Anencephalus occurs when there is drastically reduced brain development, with small cerebrum, cerebellum, and/or brain stem along with no cranial bones for protection. In anophthalmia/microphthalmia, the eyes are missing or reduced in size (Stedman 2000). Encephalocele is a neural tube condition involving an opening of the skull with exposure and/or extrusion of brain material, sometimes including exophthalmos (i.e., extrusion of the eyeballs) but often posing risk for infection if not surgically corrected.

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Hydrocephalus without Spina Bifida represents a condition, literally meaning “water on the brain” (i.e., hydro = water and cephalus = brain), that involves fluid accumulation in the brain leading to brain damage. It can result from a variety of conditions throughout life, including infection, but with newborn infants it is usually fatal unless there is surgical removal of the fluidproducing ventricle or a shunt is introduced to remove fluid (Sandberg 2007), with most children with shunts requiring surgical adjustments with risk for infection requiring continuous health care into adulthood (Simon et al. 2009). Conversely, spina bifida without anencephalus occurs when there is abnormal development and curvature of the spine, resulting in nerve damage, difficulty walking, and problems with bodily functions such as bladder and sphincter control. The condition requires multiple surgeries throughout childhood and adolescence, and improved surgical approaches and treatments have reduced mortality associated with the condition (MMWR 1989). With the multiple surgeries, rehabilitation practitioners have developed exercise programs to assist children with this condition (NCPAD 2007).

15.4.3 Neurological/Sensory Conditions Neurological conditions include fetal alcohol syndrome (FAS), hearing and vision abnormalities. FAS (see Chap. 12) is a serious and prevalent condition that results from maternal alcohol or other substance abuse. Children with FAS experience delayed development, nervous system damage, and facial abnormalities, and they require special health and education services throughout youth and adolescence (Chap. 12; Kvigne et al. 2009). Hearing and vision conditions and treatment are described in Chaps. 6–8, respectively.

15.4.4 Orofacial Conditions Orofacial conditions include amniotic band syndrome, anotia, microtia, choanal atresia, cleft lip

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with and without cleft palate, and cleft palate without cleft lip. Amniotic band syndrome involves malformations of the face, skull, and arms and legs. The condition can be detected prenatally by ultrasonograms of the unborn child (Richardson 1994). In anotia/microtia, the ear lobes are reduced or missing, respectively. Choanal atresia is the failure of the bucconasal membrane to fold properly, leading to nasal blockage and life-threatening airway obstruction in newborn infants. The condition requires a straightforward surgical correction. A more frequent orofacial folding condition is cleft lip with and without cleft palate. Cleft lip involves a deformation of the lip that may or may not extend into the upper hard palate of the roof of the mouth, resulting from improper tissue folding during development of the lower cranium. Like several morphological conditions, the incidence of the condition can be reduced by maternal consumption of folic acid, and the condition also can be surgically corrected (Harville et al. 2005). The converse condition, cleft palate without cleft lip, is a malformation of the hard palate of the upper mouth, but not extending to the lip. (Harville et al. 2005). Cleft palate alone can be surgically corrected via orofacial surgery.

15.4.5 Abdominal Conditions Abdominal conditions include bladder extrophy, diaphragmatic hernia, gastroschisis, and omphalocele. Bladder exstrophy is a gap in the front wall of the bladder with the abdominal wall that results from failure of abdominal muscle development, resulting in entanglement of part of the bladder through the front of the abdomen (Stedman 2000). Surgery is required to repair the gap. Similarly, but in a different location, a diaphragmatic hernia occurs when abdominal organs such as the intestines protrude into the chest cavity (affecting heart and lung functioning) through a hole or weak spot in the muscular diaphragm muscle (Stedman 2000). It requires urgent surgical correction as well. Gastroschisis is another organ extrusion condition where the front abdominal wall remains


fused with the skin so that the intestines and other abdominal organs protrude near the navel. Davies and Stringer (1997) followed 35 infants born between 1972 and 1984, finding that with surgical corrections that maintain the umbilicus, most patients developed with good health, although bowel obstruction is a risk (Davies and Stringer 1997). Omphalocele is another organ extrusion condition that appears to be inherited (OMIM® 164750) as an autosomal dominant trait (Kanagawa et al. 2002; McKusick 1966, 1990, 1998; www.ncbi.nim.nih.gov/omim). It involves protrusion of the intestines and abdominal contents into the umbilical cord, unlike gastroschisis. The condition might be preventable with prenatal maternal multivitamin intake, with Botto et al. (2002) finding a 60% reduction of this condition from mothers who used multivitamins. It requires surgical correction. It occurs in one of every 2,000–3,800 births (Kanagawa et al. 2002).

15.4.6 Gastrointestinal Conditions Major gastrointestinal conditions include biliary and esophageal atresias, tracheoesophageal fistula, rectal and large intestinal atresia and stenosis, and renal agenesis and/or hypoplasia. Biliary atresia is characterized by abnormally small bile ducts leading from the liver, causing bile accumulation, jaundice, and liver damage (Stedman 2000). Esophageal atresia and tracheoesophageal fistula frequently occur together in infants, although they may occur alone. The incidence rate is approximately one out of every 2,400–4,500 births (Kovesi and Rubin 2004). Esophageal atresia involves an obstruction in the esophagus, thereby disrupting digestive functions. Tracheoesophageal fistula involves an abnormal connection between the esophagus and trachea other than the pharynx (Kovesi and Rubin 2004). It can be surgically corrected, although eventual mortality remains high at 22% (Tsai et al. 1997). Rectal and large intestinal atresia/stenosis involve constriction or blockage of the intestine. Treatments include surgery, transplantation, and hormone administrations to promote proper in-

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testinal growth, although complications may ensue if the infant also has heart abnormalities or liver disease (Dalla Vecchia et al. 1998). Renal agenesis involves missing kidneys accompanied by poor lung development, a condition that is fatal and occurs in approximately 1–3 of every 10,000 births (Slickers et al. 2008). Renal hypoplasia produces underdeveloped kidneys and high blood pressure, often being fatal as well. The conditions are higher among individuals from lower socioeconomic backgrounds, and the identification of other contributing factors have yielded conflicting results (Slickers et al. 2008).

15.4.7 Reproductive Conditions These conditions include hypospadias, epispadias, and cryptorchidism. Hypospadias is an abnormally located urethral opening in the underside of the penis of males or in relation to the vagina of females. In epispadias, the urethral opening is on the back side of the penis. Hypospadias occurs in approximately 3–8 of every 1,000 male births, and both conditions can be surgically corrected (Porter et al. 2005). Cryptorchidism is failure of one or both of the testicles to descend into the scrotum, with incidences varying by decade and geographically (Virtanen and Toppari 2008). It happens in 2.7– 8.4% of male births, sometimes occurring with hypospadias or epispadias with higher percentages for preterm births. Testicles eventually descend spontaneously, partially, or require surgical correction (Virtanen and Toppari 2008).

15.4.8 Chromosome Abnormality Conditions Many spontaneous miscarriages occur due to serious abnormalities in chromosome numbers, with less than two copies of chromosomes 1–22 in many instances or often involving extra copies of chromosomes. These miscarriages include three of the more prevalent trisomy conditions, where there is an extra chromosome with triple instead of the normal double dosage of products

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produced by genes located on the affected chromosome. Infants with trisomies for chromosomes 13, 18, and 21 are capable of surviving past birth in some instances, although the children experience substantial health problems. Trisomy 13 occurs in approximately one of every 20,000 births. Its symptoms include mental retardation, deafness, heart problems, multiple fingers and/or toes, cleft lip and/or palate (Gardner and Snustad 1984). Trisomy 18 occurs in approximately one of every 8,000 births. Trisomy 18 symptoms include mental retardation and abnormalities of most internal organs due to excessive dosage of all genes on the extra, third chromosome 18. Most infants die in the first year (Gardner and Snustad 1984). Trisomy 21, better known as Downs syndrome, involves triplication of protein production from all genes on the 21st chromosome. The condition occurs more frequently in infants born to older mothers, and the condition invariably results in serious but varying levels of mental retardation, heart problems, etc. (Gardner and Snustad 1984).

15.4.9 Limb Morphology Conditions Reduction deformity involving the upper or lower limbs occurs when limbs are missing or reduced in length, due to unknown genetic and/ or environmental causes, including use of certain prescription medications (e.g., thalidomide) that are now banned (Smith et al. 1977).

15.5 Folic Acid, Nutrition, and Birth Defects A growing research literature has demonstrated that strong maternal nutrition can substantially reduce the occurrence of many birth defects as well as benefit overall female health. Good nutrition consists of a complete, well-balanced diet. It especially provides the mother with the full nutritional quota for B vitamins plus vitamins A, D, E, and K that are important for maternal bone remodeling, minerals (e.g., iron, magnesium), and amino acids. Research shows

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that multivitamins plus the B vitamin folic acid significantly reduce the incidences of congenital heart conditions, orofacial clefts, and spina bifida described above (Bailey and Berry 2005). The recommended daily dose of folic acid is 400 µg/dg of body weight (Bailey and Berry 2005). Most breakfast cereals are fortified with this quantity of folic acid, which can be verified on food product labels. Folic acid functions in the body as an enzymatic cofactor to aid in the synthesis of red blood cells as well as purines and pyrimidines, the components of deoxyribonucleic acid (i.e., DNA, the genetic material in all cells). Consequently, folic acid will be needed for most tissue growth and development. Because of latent periods for ingestion and tissue delivery of nutrients, any woman even considering a pregnancy should be exercising and maintaining a healthy diet containing multivitamins and folic acid, even for her general well-being, immune system functioning, and overall long-term health (e.g., preventing bone loss via folic acid and vitamins A, D, E, and K; Hollar 2000).

15.6 The Medical Home and Prenatal Care The vast continuum of disability and physical/ psychosocial developmental variation can arise from events during embryonic development, early childhood, and adolescent experiences. Therefore, it is important for CSHCN and their families to have a medical home (see Chap. 21), a regular physician, clinic, and/or health care center where medical, counseling, and other health care professionals can monitor changes in conditions and provide updated care. Ideally, the medical home should be established by the family prior to conception to insure continuity of care, address parental health factors that might impact children, and to provide proper planning for optimal pregnancy outcomes for child and mother. Even if a family changes health providers, there should be continuity of care with transfer of all family health records from the former to the new provider (Johnson 2001).


15.7 The Consilience of Psychosocial and Physiological Development CSHCN are extremely diverse in terms of their physical and/or psychosocial developmental needs. Biopsychosocially, CSHCN in general do not follow the psychosocial developmental stages at the same pace as children without disabilities, nor should they do so. Few studies have adequately standardized “normal” development for children in general, leave alone specific types of disability. In reality, every child develops uniquely at their own pace such that the line between disability and nondisability can be confusing and constantly changing with development. Every child is unique, so it is the responsibility of providers, family, advocates, peers, and the community to provide inclusive environments for CSHCN. Disabilities in cognitive, psychosocial, and/or physical development throughout life derive from a complexity of events, usually beyond their or their family’s control, that occurred genetically, epigenetically across generations, and/or environmentally and that impacted them beginning at the moment of conception. There is much that can happen to an individual during development, but the first trimester is the most critical period because it sets the developmental cell differentiation and tissue folding/growth patterns for the entire lifespan. Proper prenatal care and maternal health aim to substantially reduce risks, although complete elimination of risk is impossible. Likewise, psychosocial development can be guided to reduce but not completely eliminate risks. Medical homes and the involvement/integration of CSHCN into society can optimize individual opportunities for full, productive lives. The ICF model (Depoy and Gilson 2004; Simeonsson et al. 2003; WHO 2001) provides a framework for integrating conditions, needs, social, and environmental factors that can be modified to improve health outcomes for CSHCN. The etiology of disability for CSHCN may be genetic or environmentally influenced, but the social environment can be adjusted to improve outcomes (Isaacs 2011).

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Using Population-Based Survey Data to Monitor the Health of Children and Youth with Special Health Care Needs and Disabilities

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Willi Horner-Johnson and Kathleen Newton

Abstract

Population-based surveys serve as a key source of information about a range of health issues. Children and youth with special health care needs (CSHCN) or disabilities have been less visible in these efforts. However, a number of large-scale surveys over the years have captured health data that include and identify children, adolescents, and young adults with disabilities and/or special health care needs (SHCN). Such surveys provide a valuable window on the tremendous diversity of health conditions that may impact individuals from early development through adolescence and adulthood, as well as the many factors that can facilitate or hinder positive health and well-being. In this chapter, we describe in detail several CSHCN national health surveys, including the National Survey of Children with Special Health Care Needs (NS-CSHCN), National Survey of Children’s Health (NSCH), National Longitudinal Study of Adolescent Health (Add Health), National Health Interview Survey (NHIS), National Education Longitudinal Study of 1988–2000 (NELS:88), Youth Risk Behavior Surveillance System (YRBSS), and the Medical Expenditure Panel Survey (MEPS). Across these and other data sources, children and youth with SHCN or disability appear to be at greater risk for a range of health problems as well as unmet health care needs. Population-based data are crucial not only for identifying these problems, but also for tracking the success of efforts to address them. Abbreviations

Add Health National Longitudinal Survey of Adolescent Health ADLs Activities of Daily Living

W. Horner-Johnson () · K. Newton Child Development and Rehabilitation Center, Oregon Health and Science University, 707 SW Gaines Street, Portland, OR 97239, USA e-mail: [email protected] D. Hollar (ed.), Handbook of Children with Special Health Care Needs, DOI 10.1007/978-1-4614-2335-5_16, © Springer Science+Business Media New York 2012

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AHRQ Agency for Healthcare Research and Quality CATI Computer-Assisted Telephone Interviews CDC U.S. Centers for Disease Control and Prevention CSHCN Children with Special Health Care Needs DRC Data Resource Center (for Child and Adolescent Health) ECLS Early Childhood Longitudinal Studies ELS:2002 Education Longitudinal Study of 2002 FPG Federal Poverty Guidelines ICPSR Interuniversity Consortium for Political and Social Research IDEA Individuals with Disabilities Education Act IRB Institutional Review Board MCHB Maternal and Child Health Bureau (of the U.S. Health Resources Services Administration) MEPS Medical Expenditure Panel Survey NCES National Center for Education Statistics NCHS National Center for Health Statistics NELS:88 National Education Longitudinal Study of 1988 NHANES National Health and Nutrition Examination Survey NHIS National Health Interview Survey NIS National Immunization Survey NSCH National Survey of Children’s Health NS-CSHCN National Survey of Children with Special Health Care Needs SHCN Special Health Care Needs SLAITS State and Local Area Integrated Telephone Survey YRBS/ Youth Risk Behavior Survey YRBSS

W. Horner-Johnson and K. Newton

16.1 Introduction The health and well-being of children and youth in the United States has received considerable attention within the field of public health. This attention has taken the form of Federal initiatives, development of data systems, and an ever-growing body of research (Irwin et al. 2002). Children and youth with special health care needs (SHCN) or disabilities have been less visible in these efforts. However, a number of large-scale surveys over the years have captured health data that include and identify children, adolescents, and young adults with disabilities and/or SHCN. Such surveys provide a valuable window on the tremendous diversity of health conditions that may impact individuals from early development through adolescence and adulthood, as well as the many factors that can facilitate or hinder positive health and well-being. Population-based surveys serve as a key source of information about a range of health issues. Population-based surveys rely on random selection of a sample of individuals from a population, allowing generalization of survey findings to the broader population from which survey participants were selected (Buehler 2008). This is in contrast to practice-based or convenience samples, which can provide crucial information about a particular subset of individuals, but with the caveat that the sampled individuals may or may not be similar to others in the population. Population-based surveys provide prevalence estimates for a number of health characteristics, risks, and outcomes in the population in question (Buehler 2008). As such, relevant surveys are essential tools for development of sound programs and policy related to the well-being of children and youth. In addition to overall population estimates, these data allow comparisons among subgroups of children and youth. Repeated or ongoing collection of such data is critical not only for identifying problems that need to be addressed, but also for tracking progress in reducing health risks in the general youth population or in specific subpopulations (Kalsbeek 2004). Population health surveys make use of several different approaches, depending on the study

16 Using Population-Based Survey Data to Monitor the Health of Children and Youth …

population and goals of the survey. Many surveys are cross-sectional, meaning that they collect data from a sample only one time. Cross-sectional data sources provide a “snapshot” of a population at a particular point in time (Gordis 2000). Other surveys are longitudinal, with the same group of subjects surveyed more than once during a period of time, allowing analysis of changes over time within the same sample (Gordis 2000). Some cross-sectional surveys are repeated periodically, but are not considered longitudinal because each sample is drawn independently of previous samples. Surveys designed for the purpose of estimating or predicting population characteristics necessitate use of scientific random sampling methods to select children, students, or families as participants. The data are then adjusted by assigning case weights so that weighted results approximate the full population from which the sample was drawn (Kalsbeek 2004). Ability to track health risks at a population level is important in addressing key public health initiatives. For example, Healthy People 2010 (U.S. Department of Health and Human Services 2000) highlighted the health of young people with disabilities in Objective 6–2: “Reduce the proportion of children and adolescents with disabilities who are reported to be sad, unhappy, or depressed.” Often, survey data inform initial development of goals such as these by bringing to light the existence of problems requiring attention. Survey data also contribute to the achievement of the goals by providing information about youth most at risk. Lastly, progress toward the goals is monitored by using survey data to track changes in the proportion of children and youth experiencing the target health problems (Kalsbeek 2004). This chapter discusses some of the issues involved in measuring health of children and youth with SHCN and disabilities, and reviews some of the available data sources for tracking the health of this population group.

16.1.1 Case Definition Identifying children and youth with SHCN or disabilities in national surveys presents certain

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challenges. For one thing, there is considerable variation in terminology and focus. Currently, the three main perspectives on ascertainment of SHCN and disability in children and youth are: (1) assessment of specific diagnoses or conditions, (2) measurement of functional or activity limitations, and (3) identification of elevated health care needs resulting from ongoing health conditions (Newacheck et al. 1998). The latter two approaches share a common focus on assessing impact on an individual’s life regardless of the underlying causes. Each of the above approaches results in identification of a different subset of individuals, although there is likely to be overlap between them. Additional issues are involved in operationalizing these perspectives for data collection. For example, items used to identify functional limitations vary considerably from one survey to another. Functional questions may focus on limitations in certain types of activities, need for assistance with activities of daily living (ADLs), or impairments in particular body parts. In self-report formats, questions of perception and identity may also be included. For instance, youth may be asked whether they think of themselves as having a disability or whether other people perceive them as having a disability. In contrast, the need-based approach has yielded much greater consistency. This assessment approach is the culmination of years of concerted effort by leaders in the field of maternal and child health who sought a definition of children with special health care needs (CSHCN) that could be used to facilitate development of comprehensive, integrated community-based health services for children with chronic health conditions and their families. To this end, a work group established by the Maternal and Child Health Bureau’s (MCHB) Division of Children with Special Health Care Needs developed this definition of CSHCN: Children with special health care needs are those who have or are at increased risk for chronic physical, developmental, behavioral, or emotional conditions and who also require health and related services of a type or amount beyond that required by children generally (McPherson et al. 1998, p. 138).

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Several instruments were subsequently devised to operationalize this broad-based, outcomedriven definition of CSHCN, among them the CSHCN Screener (Bethell et al. 2002b). Developed by the Child and Adolescent Health Measurement Initiative (CAHMI), the CSHCN Screener consists of five items, each assessing a specific category of health consequences: (1) need for or use of prescription medications; (2) need for or use of specialized therapies (e.g., physical, occupational, or speech therapy); (3) above-routine need for or use of medical, mental health, or educational services; (4) need for or use of treatment or counseling for emotional, behavioral, or developmental problems; and (5) limited ability to do things most children of the same age can do. Each item, if true, is followed up with questions to establish: (1) whether the consequence is attributable to a medical, behavioral, or other health condition1 and (2) whether the underlying condition has or is expected to last for 12 months or more (Bethell et al. 2002b). Although the CSHCN Screener requires positive responses on at least one of the five items and its follow-up questions, many CSHCN qualify on multiple items. The CSHCN Screener has demonstrated strong agreement with a longer measure, the Questionnaire for Identifying Children with Chronic Conditions (QuICC)—Revised (Bethell et al. 2002a) and has subsequently been tested for reliability across surveys with varying methodologies (Bethell et al. 2008) and for internal validity (Bramlett et al. 2009; Carle et al. 2010). This instrument is currently used in several national child and household population health surveys (Bethell et al. 2002a, b). Another consideration in case identification is the source of reports on children’s conditions, functional limitations, or increased health needs. Some surveys collect data specifically about children from birth through 17 years of age, typically relying on parents or other caregivers as infor1

The one exception is the fourth item, which includes the type of underlying condition (emotional, behavioral, or developmental problems) in the stem question, followed by the question about duration.


mants for their children. These reports may or may not be verified by other informants or by medical or administrative records. Questions about children and youth are sometimes included in household surveys in which one respondent provides information about some or all of the individuals living in their household. Surveys of older children and youth—usually in the middle school to high school age range—often collect data directly from the youth themselves, sometimes supplemented with input from peers, parents, teachers, or other sources. Given the diversity of data sources and measurement strategies, this chapter takes a broad approach to discussing health data available from surveys assessing either SHCN or functional disabilities.

16.1.2 Defining Health Throughout much of recent history, disability has been perceived as equivalent to poor health (Drum 2009). In recent decades, there have been efforts to distinguish among constructs such as disability, function, and health (Krahn et al. 2009). The current view in the disability field is that one can be disabled and also experience good or excellent health (U.S. Department of Health and Human Services 2005). Important in this view is the recognition that many of the health problems experienced by people with disabilities are preventable (Simeonsson and Leskinen 1999). Many surveys group questions about function together with questions assessing health, reflecting a more traditional view of function as a component of health. However, in the context of this chapter, functional ability questions are treated as a means of identifying a population of interest, rather than as a measure of health status. Even though special health care needs are defined by the consequences of children’s health conditions, as in the CSHCN Screener, many CSHCN enjoy very good or excellent health. This is aptly illustrated in results from the 2007 National Survey of Children’s Health (NSCH). Nationwide, only 11.0% of all CSHCN were described by their parents as having fair or poor


health, while more than two-thirds (69.2%) enjoyed very good or excellent health. Within the subpopulation of CSHCN who had functional limitations as defined by the CSHCN Screener, substantially more experienced very good or excellent health (43.9%) than had fair or poor health (26.6%) (Data Resource Center for Child and Adolescent Health (DRC), online data query). These data illustrate that having a functional limitation or even a health condition is not synonymous with poor health. Thus, in this chapter, we separate identification of CSHCN or functional limitations from measurement of health status. Health indicators in surveys (separate from function or CSHCN identifiers) can cover a wide range of topics. Overall health is often measured using a single question asking whether one’s health is excellent, very good, good, fair, or poor. More specific questions about physical and mental health may ascertain the frequency, duration, and severity of illnesses, and (especially for adolescents) feelings of depression or suicidal ideation. Health can also be considered to include fulfillment of age-appropriate roles (e.g., school attendance, transition to adulthood) as well as performance of healthy behaviors and avoidance of risky behaviors (Raphael 1996). Surveys in which parents provide information about their children may additionally address developmental concerns, oral health, accidents and injuries, missed school days, behavioral and social issues, parents’ emotional and physical health, or other more focused topics.

16.2 Major Sources of Data Many of the major US population health surveys of children and youth are funded and/or conducted by federal agencies. Several relevant surveys are overseen by the National Center for Health Statistics of the Centers for Disease Control and Prevention (CDC). In addition, CDC’s National Center for Chronic Disease Prevention and Health Promotion conducts a nationwide Youth Risk Behavior Survey (YRBS). Another important source of child and youth population-based data, the National Center for Education Statistics

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(NCES), is an agency of the U.S. Department of Education’s Institute of Education Sciences. The NCES manages a host of surveys on early childhood, as well as elementary, secondary, and postsecondary education. The Agency for Healthcare Research and Quality (AHRQ), an agency of the U.S. Department of Health and Human Services, manages several surveys on health care access, utilization, and expenditures, including the Medical Expenditure Panel Survey described later in this chapter. There are also some nonfederal groups conducting nationwide population-based research. One example is the Carolina Population Center at the University of North Carolina—Chapel Hill, which conducts a massive longitudinal study of youth (now young adults) who were in grades 7–12 when the study was initiated in 1994. Known as Add Health, the survey is funded jointly by two dozen federal agencies and private foundations, led by the National Institute of Child Health and Human Development.

16.2.1 History of SHCN and Disability Measurement Within Surveys The history underlying the inclusion of SHCN and disability questions in population-based surveys is as varied as the surveys themselves. Survey items have been developed to serve a range of needs and have been shepherded into existence by events as sweeping as national legislation and as personal as the commitment of dedicated individuals. We present here a handful of the stories behind the data. The National Survey of Children with Special Health Care Needs (NS-CSHCN) was conceived out of the need for reliable and comparable state-level data to facilitate allocation of federal funds to states (McPherson et al. 1998). Since 1935, Title V of the Social Security Act has provided funds to states for services to children, of which 30% are earmarked specifically for children with complex health care needs (van Dyck et al. 2002). For many years CSHCN planning was based on lists of specific health conditions or functional disabilities, which differed from

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state to state (van Dyck et al. 2002). However, as the epidemiology of chronic conditions in children has increased in complexity, so has the difficulty of assessing the prevalence of and health care needs of CSHCN (McPherson et al. 1998). In response to these changes, the U.S. Maternal and Child Health Bureau developed a broad and inclusive new definition of special health care needs (McPherson et al. 1998), which laid the groundwork for a national system of data collection to aid states in needs assessment and planning for CSHCN. Two new surveys were commissioned by the Maternal and Child Health Bureau to conduct this research: the National Survey of Children with Special Health Care Needs (van Dyck et al. 2002) and the National Survey of Children’s Health (van Dyck et al. 2004). The impetus for inclusion of disability identifiers in education surveys was provided by passage of the Education for All Handicapped Children Act of 1975, later reauthorized as the Individuals with Disabilities Education Act (IDEA). With the mandate to provide programs and services to students with disabilities came the need for data on the prevalence, characteristics, educational experiences, and transition outcomes of these students (Rossi et al. 1997). Subsequently, disability identifiers have been included in a variety of surveys conducted by NCES. Similarly, the catalyst for the development of the National Health Interview Survey on Disability (NHIS-D) was the Americans with Disabilities Act, signed into law in 1990. National data on disability were needed to inform ensuing policies and reforms. To meet that need, four Federal offices collaborated on the development of the NHIS-D: (1) Office of the Assistant Secretary for Planning and Evaluation, Health and Human Services; (2) Office of Supplemental Security Income, Social Security Administration (SSA); (3) Office of Disability, SSA; and (4) Bureau of Maternal and Child Health, Health Resources Administration (CDC 2009a). The NHIS-D supplement was designed to measure disability from social, administrative, and medical perspectives. The data collected have been used to develop disability prevalence estimates, provide baseline data on the health of people with disabilities, and


inform public health policy (CDC 2009a). The NHIS now includes a smaller set of disability questions in its annual survey. In some cases, the work of a key individual has been instrumental in efforts to provide disability data. One such person is Barbara Altman, the mother of a son with a disability who, while employed at the AHRQ, worked tirelessly to add a set of functional disability questions to the Medical Expenditure Panel Survey (MEPS). Although the resulting survey items represent approximately half of the questions she hoped to include (Altman 2009), they continue to provide a rich source of data on the health and health care experiences of children, youth, and adults with disabilities. The introduction of items about disability and CSHCN in local and state surveys for the Youth Risk Behavior Surveillance System (YRBSS) has occurred on a state-by-state basis. In 1999, Oregon became one of the first states to include such items. The Oregon Office on Disability and Health subsequently became interested in this data source and, with support from a CDC grant, has funded disability-related questions in the 2004, 2006, and 2008 Oregon surveys. The most recent set of items (included in 2006 and 2008) was developed in consultation with the Oregon Center for Children and Youth with Special Health Needs. Washington, North Carolina, Ohio, and Montana are among the other states that have each gone through their own process of developing and funding state YRBS questions about disability and CSHCN (Hollar 2005; D. Hollar, October 2010, personal communication).

16.2.2 Overview of Population Surveys with Data on Children and Youth with SHCN While a description of all of the available datasets is beyond the scope of this chapter, some of the surveys most commonly used in studying children and youth with SHCN are described below. A summary of these data sources is shown in Table 16.1. More detailed information is provided in the following text:

Civilian noninCivilian noninstitutionalized residents of stitutionalized residents of the the United States United States

Noninsitutionalized children between the age of 0 and17 years, nationwide and within each state and the District of Columbia

Self-administered Self-administered questionnaire, personal questionnaire, Telephone interview interview (CATI), personal interview (CAPI)

Self-administered questionnaire, conducted in classrooms

Parent or other adult in household who is familiar with child’s health Personal interview (CAPI) Parent or other adult in household who is familiar with child’s health Personal interview (CAPI) Parent or other adult in household who is familiar with child’s health Telephone interview (CATI) Parent or other adult in household who is familiar with child’s health Telephone interview (CATI)

Youth (self report); parents, teachers, school administrator

Mode of administration

Longitudinal

Cross-sectional

Cross-sectional

Cross-sectional

U.S. population

U.S. population

Children and youth

Children and youth who have special health care needs as defined by MCHB Noninsitutionalized CSHCN between the age of 0 and 17 years, nationwide and within each state and the District of Columbia

MEPS Agency for Health care Research and Quality, U.S. Department of Health & Human Services

NHIS National Center for Health Statistics, Centers for Disease Control & Prevention, U.S. Department of Health & Human Services

NSCH National Center for Health Statistics, Centers for Disease Control & Prevention, Department of Health & Human Services

NS-CSHCN National Center for Health Statistics, Centers for Disease Control & Prevention, U.S. Department of Health & Human Services

Longitudinal

Youth (self report), parents, peers, school administrator

Longitudinal

Students enrolled in Cohort of individuals 8th grade who were students in grades 7–12 during 1994–1995 school year

Youth (self report)

Public and private high school students nationwide and in participating states or other jurisdictions (national sample independent of state/ local samples) Cross-sectional

NELS:88 National Center for Education Statistics, Institute of Education Sciences, U.S. Department of Education

Youth and young adults Youth and young adults

Add health Carolina Population Center, University of North Carolina

Study design Informant

Sample

Available from

YRBSS Adolescent & School Health Division, National Center for Chronic Disease Prevention & Health Promotion, Centers for Disease Control & Prevention, U.S. Department of Health & Human Services; state & local jurisdictions Population High school students

Table 16.1 Summary of major CSHCN data sources

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Time frames

Response rates

Sample sizes

Sampling methods

Add health Nationwide stratified cluster sample of 80 high schools and each high school’s feeder middle schools

NELS:88 Clustered, stratified national probability sample of 1,052 public and private 8th grade schools, with randomly selected 8th graders from each school 24,500 students at baseline; 10,827 with data from all 5 waves

NS-CSHCN NIS sampling frame and SLAITS; one-stage stratified random sample; strata are states; one CSHCN selected from each qualifying household selected 2005–2006: 40,073 132 schools in 80 CSHCN interviewed communities; 20,745 (850 per state); students in original 363,183 children sample (selected from screened, including 90,118 who completed 55,767 CSHCN; written survey); 15,701 191,640 housein Wave IV (2008) holds with children between the age of 0 and 17 years; 4,945 non-CSHCN referent sample (no state identifier) 2005–2006 CSHCN 2009 National YRBS: Wave I: 78.9%, Wave Schools: Base Year screener—79%; inter69.7% (102% after II: 88.2%, Wave III: school rate—81%; replacement of nonre- view—56%; referent 77.4%, Wave IV: student rate—88%; sample—50%—2001 sponsive schools); 80.3% overall rate—71%. CSHCN ~ 99% F1 & F2. State and local survey Individuals: 92-99% screener—63%; response rates vary (BY), 90–97% (F1), interview—61% 88–98% (F2), 91% (F3), 83% (F4) Every 4 years: 2001, Baseline in 1988; Biannually beginning Four waves, 1994– 2005, 2009 follow-up in 1990, in 1991 2008; Wave I–II 1992, 1994, and 2000 parents and school administrators survey (1994–1995); Wave III–IV romantic partners of participants interview (2001–2002)

YRBSS National: three-stage cluster sampling, with oversampling of Black and Hispanic students. State and local surveys: two-stage cluster sampling 2009 National YRBS sample included 16,410 students. Local samples vary in size


2009 NHIS final response rates: sample child— 73.4%; family component—81.6%; household—82.2%

Annually since 1957

2007 NSCH—47% overall response rate; state range: 39%–62%—2003 NSCH—55% overall response rate; state range: 50%–64% Every 4 years: 2003, 2007; 2011

NHIS Multistage probability sample with oversample of Black, Hispanic and Asian; strata are states; one child selected from each qualifying household 2007: 91,642 children 2009: 11,156 sample child; 27,731 sample between the age adult; 33,856 houseof 0 and 17 years hold-level, 34,640 (1,800 per state); 20% CSHCN—2003: family-level, 88,446 person-level 102,353 children between the age of 0 and 17 years (2,000 per state); 17.6% CSHCN

NSCH NIS sampling frame and SLAITS; one-stage stratified random sample; strata are states; one child selected from each qualifying household

Annually since 1996 (overlapping panels are enrolled for 2.5 years each)

2008 overall response rate: 59.3%

2008: 31,262 persons in 12,316 families

MEPS Sampled from previous year’s NHIS respondents

314 W. Horner-Johnson and K. Newton

Purpose

Disability/ special needs identifiers

Health topics

NHIS Health status, health care utilization, injuries, health insurance, access to care, selected health conditions, immunizations; special supplements on cancer, CAM, etc.

Self report—functional difficulty, need assistance with ADLS, consider self to have a disability, others consider youth to have disability

CSHCN screener; functional status

2002–2009: activity limitations, underlying health condition, and duration of underlying condition; use of special equipment, prescription medications; disability Monitor the health Collect data to explore Learn about the edu- Estimate prevalence Complement the the influences of both cational, vocational, of CSHCN by state; NS-CSHCN; provide of the US population by providing data to national and statethe individual attributes and personal develop- provide informatrack health status, level information tion on health and ment of students at of respondents and health care access, about a broad range functional status, various stages in the attributes of their and progress toward of children’s health need for and use of various environments their educational achieving national and related issues; health services, and careers, and the on health and healthhealth objectives system-of-care short- provide estimates personal, familial, related behavior comings experienced for federal and state social, institutional, by CSHCN; provide Title V maternal and and cultural factors estimates for federal child health needs that may affect that assessment and perand state Title V development needs assessment and formance measures, Healthy People performance measures and for Healthy objectives People objectives

NSCH Health status, selected health conditions, health insurance, access to care, quality of care and medical home, parent health, family functioning, child care, school concerns, community activities, neighborhood environment

Self report—“any physical disabilities or long term (6 months or more) health problems”—2005 national; some states include various versions Measure the prevalence of health-risk behaviors among students; assess trends in these behaviors; examine the cooccurrence of health-risk behaviors

NS-CSHCN Health status, selected health conditions, health insurance coverage and adequacy, access to care, unmet needs, quality of care, care coordination, getting referrals and specialist care, medical home, transition to adulthood, impact on family CSHCN screener; Parent report at baseline of functional functional difficuldifficulties associated ties; specific health with receipt of related needs (e.g., equipment, medication, services; other selfspecial therapies) reported identifiers inconsistent between years

NELS:88 Health behaviors: alcohol, tobacco and other drug use, sexual behaviors

Add health Self-reported health, chronic conditions, mental health, health services access and utilization, physical activity, diet, substance use, violence, sexual behavior

YRBSS Health-risk behaviors including: injuries and violence, tobacco use, alcohol and other drug use, risky sexual behaviors, dietary behaviors, and physical activity, obesity, and asthma


Collect data on specific health services Americans use, how frequently they use them, cost of these services, and how they are paid for

CSHCN screener; ADL/IADL limitations; limitations in physical functions, vision, hearing, cognition; limitations in work, schoolwork

MEPS Health conditions, health status, use of medical services

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Information sources

Centers for Disease Control and Prevention. Methodology of the Youth Risk Behavior Surveillance System. MMWR 2004; 53 (No. RR-12): 1–14

YRBSS Dataset National datasets description downloadable from CDC website in ASCII, SPSS, SAS, and Access formats. Contact sites to request state or local data


Several user guides available at http:// www.cpc.unc.edu/ projects/addhealth/ data/guides/

Add health Download public use files from ICPSR website (free but login required) or request CD-ROM from Sociometrics Corporation for a fee

NELS:88 Public data downloadable through EDAT in SPSS, Stata, SAS, R, S-Plus, SUDAAN, ASCII, or CSV formats. May request CD-ROM of public or restricted data Curtin et al. (2002). National Education Longitudinal Study of 1988: Base-Year to Fourth Follow-up Data User’s Manual (NCES 2002–2323). Washington: NCES, Department of Education

MEPS Public use files downloadable from AHRQ website in ASCII or SAS transport format

AHRQ (2010). MEPS HC-121 2008 full year consolidated data file. Rockville: AHRQ (Similar documentation files, as well as codebooks, available for each dataset)

NHIS Microdata files with case weights totaling US population; released 6 months after data collection is completed

National Center for Health Statistics. Summary of health statistics for US children: National Health Interview Survey, 2009. Vital and Health Statistics, 10:247 December 2010

NSCH Microdata files with case weights; download raw datafile from NCHS SLAITS web page, or request DRC Indicator Dataset from DRC www. nschdata.org CDC. Summary of current surveys and data collection systems. National Center for Health Statistics, June 2010. http:// www.cdc.gov/nchs/ data/infosheets/info sheet_summary1.pdf

NS-CSHCN Microdata files with case weights; download raw datafile from NCHS SLAITS web page, or request DRC Indicator Dataset from DRC www. cshcndata.org CDC. Summary of current surveys and data collection systems. National Center for Health Statistics, June 2010. http:// www.cdc.gov/nchs/ data/infosheets/info sheet_summary1.pdf

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16.3 Child-Focused Surveys

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CSHCN Core Outcomes- Key Measures of Performance

16.3.1 National Survey of Children with Special Health Care Needs

Families of children and youth with special health care

The NS-CSHCN is a nationwide telephone survey sponsored by the MCHB and conducted by the CDC’s National Center for Health Statistics (NCHS), using the State and Local Area Integrated Telephone Survey (SLAITS) system. The survey was first administered in 2001 and repeated in 2005–2006. Data from the third round, begun in 2009, were released in 2011 (CDC 2011b). The purpose of the NS-CSHCN is to estimate the prevalence of special health care needs among children within each state, to describe the health and health care needs of CSHCN and their families, and to understand how the current system of care can be improved in order to meet those needs (van Dyck et al. 2002). The survey provides baseline estimates for federal and state Title V performance objectives, national Healthy People goals, and state Title V needs assessments, as well as serving as a resource for child health researchers, advocates, and other groups (van Dyck et al. 2002). The NS-CSHCN is conducted in all 50 states and the District of Columbia. Using random digit dialing methods, a sample of households with children is selected in each state. All children in each of these households are screened using the CSHCN Screener. If one child in a household qualifies, that child is selected to participate in the survey. In households with more than one CSHCN, one is selected at random. An in-depth telephone interview is conducted with the parent living in the household who is most familiar with the selected child’s health and health care. Survey results are weighted to represent characteristics of the noninstitutionalized population between the age of 0 and 17 years within each state and the District of Columbia (Blumberg et al. 2008). The NS-CSHCN provides detailed state- and national-level parent-reported information on the health status and health care system experiences of children and youth with special health care needs and their families (Blumberg et al. 2003). Topics covered by the NS-CSHCN questionnaire include health and functional status, insurance

Children and youth with special health care needs

needs partner in decision making at all levels and are satisfied with the services they receive;

receive coordinated ongoing comprehensive care within a medical home; Families of CSHCN have adequate private and/or public insurance to pay for the services they need; Children are screened early and continuously for special health care needs; Community-based services for children and youth with special health care needs are organized so families can use them easily; Youth with special health care needs receive the services necessary to make transitions to all aspects of adult life, including adult health care, work, and independence.

Fig. 16.1 MCHB core outcomes for CSHCN. (Source: U.S. Department of Health and Human Services, Health Resources and Services Administration, Maternal and Child Health Bureau 2008)

coverage and adequacy of coverage, access to health care services, medical home, impact of children’s special needs on their families, familycenteredness of services, and care coordination. Questions about selected health conditions and functional difficulties were added to the 2005– 2006 interview (DRC 2009). The NCHS has released data files for each round of the NS-CSHCN. Screener, Household, and Interview files are available to the public, along with a data file that may be used for single or multiple imputation of missing income category values. Separate data files were released with insurance data (2001) and a national referent sample of children without special health care needs (2005–2006) who were administered the CSHCN Interview for comparison with CSHCN outcomes (Blumberg et al. 2008). NS-CSHCN data files are also available by request from the DRC (childhealthdata.org). In addition to contents of the NCHS public-use data files, the DRC datasets include derived variables for six MCHB core outcome measures pertaining to CSHCN (see Fig. 16.1), and for national indicators of

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CSHCN prevalence, health and functional status, health insurance coverage, health care needs and access to care, care coordination, family-centered care, and impact on families of CSHCN (DRC n.d.a). Perhaps the greatest strength of the NSCSHCN is that its study population is exclusively children with special health care needs. As such, it offers an in-depth view of the health status of CSHCN, their access to health care services, quality of the health care systems and services they use, and the impact on families of caring for a child who has special health care needs. At the national level, the sample size (approximately 40,000 CSHCN, age 0–17 years) permits precise population and point prevalence estimates as well as detailed multivariate analysis on a wide range of topics. Using contextual data provided by the Screener and Household files, the cases are weighted to represent each state’s population characteristics, so that statelevel analyses may be conducted, and crossstate comparisons are possible (Blumberg et al. 2003; 2008). Derived variables measure each of the six MCHB Core Outcomes for CSHCN as well as 15 additional indicators of CSHCN health and health care, such as impact of health on daily activities, adequacy of health insurance, difficulty getting specialist services, and annual out-of-pocket medical expenses paid by families of CSHCN. Results from the first two rounds of the NS-CSHCN may be compared (with certain caveats) to identify trends in CSHCN outcomes, and researchers interested in less common conditions or characteristics may combine surveys to increase the sample size. The SLAITS mechanism used for the NSCSHCN relies on sampling from banks of telephone numbers. The rapid replacement of land lines by cell phones in recent years has raised concerns about whether information gathered from households with land lines can be truly representative of all households (Blumberg et al.2006). The NCHS is working on addressing these questions in an effort to adjust sampling and weighting methods to correct selection bias (CDC 2009b). In spite of its large national sample size, statistical power for state-level multivariable analysis


is somewhat limited; in 2005–2006, about 750 interviews were conducted in each state. Confidentiality policies of the NCHS require that substate geographical identifiers (county, zip code, etc.) and other variables that could be used to identify individual respondents are not included in the public-use files (Blumberg et al. 2008). Also, some items are not comparable between 2001 and 2005–2006 because of changes made in the questionnaire format (Blumberg et al. 2008).

16.3.2 National Survey of Children’s Health The NSCH is the second of the two National Surveys conducted by the NCHS at the behest of the MCHB. Like the NS-CSHCN, the NSCH is conducted approximately every 4 years, but beginning in 2003 so that data collection for one of the two surveys is initiated every 2 years. The second round of the NSCH was conducted in 2007, and the third round was fielded in 2011. Like the NS-CSHCN, the NSCH makes use of the SLAITS system to select a random sample of households in each state and the District of Columbia, which are included if anyone living in the household is under 18 years of age. In households with more than one child, one is randomly selected to be the subject of an interview with the parent who is most familiar with the child’s health and health care. Results are weighted to reflect the population characteristics of children between the age of 0 and 17 years in each state and the District of Columbia (Blumberg et al. 2005; in press). The NSCH questionnaire was designed to complement the NS-CSHCN by describing health-related characteristics of all children and adolescents in the United States (van Dyck et al. 2004). It yields a broad range of information about children’s health and well-being collected in a manner that allows comparisons among states as well as nationally. Questionnaire topics include demographics, physical and mental health status, health insurance, access to and use of health care services, medical home and quality of health care, early childhood (0–5 years) issues, issues specific to middle childhood and


adolescence (6–17 years), family health and activities, parental health status, and neighborhood characteristics (Blumberg et al. 2005; in press). Public-use data files for the NSCH surveys are available for download from the National Center for Health Statistics and by request from the Data Resource Center for Child and Adolescent Health. Aside from its value as a source of data for Title V block grants, the NSCH has provided raw data for countless studies of children’s health status, quality of health care, and family and neighborhood characteristics (DRC n.d.b). The NSCH complements the NS-CSHCN by offering the opportunity to stratify results based on CSHCN status, type of SHCN, demographic characteristics, or other results. More than 90 indicator variables, developed by the DRC in collaboration with the NCHS, measure aspects of children’s health and functional status, health insurance, access to and quality of health services, community and school involvement, family health and activities, and neighborhood environment (DRC 2003a, b, c; DRC 2007a, b, c). The NSCH has many of the same strengths as the NS-CSHCN, including a large national sample, case weighting to state population characteristics, multiple rounds of data collection, and highly sophisticated methods. Like the NS-CSHCN, state-level multivariable analysis of NSCH data is somewhat limited, and some variables are restricted or modified to protect confidentiality. Changes made in the 2007 questionnaire resulted in limited comparability between 2003 and 2007 results for some items.

16.4 Youth-Focused Surveys 16.4.1 National Longitudinal Study of Adolescent Health (Add Health) The Add Health study is conducted by the Carolina Population Center of the University of North Carolina at Chapel Hill, with primary funding from the Eunice Kennedy Shriver National Institute of Child Health and Human Development. It is the largest longitudinal survey of adolescents

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ever undertaken in the United States (Carolina Population Center n.d.). The Add Health survey was initiated in 1994 in response to a US Congressional mandate to study adolescent health. The earlier waves of data collection focused on factors influencing health and risk behaviors among youth, while later waves explored the connection between adolescent experiences and behaviors, and the behaviors and health outcomes of early adulthood (Carolina Population Center n.d.). The first survey wave began with a questionnaire administered in the school setting to a nationally representative sample of students in grades 7–12. At-home interviews were conducted in 1994–1995 with a subset of these students. Follow-up interviews of this smaller group were conducted in 1996, 2001–2002, and 2007–2008 (Harris et al. 2009). The topics addressed include functional limitations and identification as a person with a disability, chronic conditions, mental health, health services access and utilization, physical activity, diet, substance use, violence, and sexual behavior. In addition to responses from adolescents themselves, data were collected from fellow students, school administrators, parents, and romantic partners. Survey data were supplemented with a picture vocabulary test in Waves I and III, and by biomarker collection in Waves III and IV. Survey responses have also been linked to external data sources providing information about neighborhoods and communities (Harris et al. 2009). Add Health has significant strengths as a data source. It provides a wealth of information about adolescent health, as well as personal, family, school, and community factors associated with various health behaviors and health risks. The longitudinal design allows study of health trajectories from adolescence into adulthood (Carolina Population Center n.d.). However, Add Health is based on a single cohort of individuals who were adolescents in 1994–1995. Findings may not be generalizable to youth in more recent years. In addition, the sampling was school-based; thus results may not apply to youth not enrolled in school (Ford et al. 1999).

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Public-use data can be accessed through the Interuniversity Consortium for Political and Social Research (ICPSR). A link to the ICPSR site is available on the Add Health website. New users must create an account, after which they can log in to the ICPSR site and download data. There is also a tool for analyzing data online (login required) without downloading datasets. To access more extensive restricted-use data, users must have an IRB-approved security plan for handling and storing sensitive data and must sign a data-use contract agreeing to keep the data confidential. Additional details, including a link to contract application materials and forms, are available on the Add Health website: http://www. cpc.unc.edu/projects/addhealth.

16.4.2 National Education Longitudinal Study of 1988 (NELS:88) The NELS:88 is one of a series of longitudinal studies conducted by the NCES to provide data on the educational, vocational, and personal development of young people transitioning into adult roles (NCES n.d.b). The series began with the National Longitudinal Study of 1972 and continued with the High School and Beyond longitudinal survey (begun in 1980) and the NELS:88. Another study in the series, the Education Longitudinal Study of 2002 (ELS: 2002), is currently underway. Follow-up data for the ELS:2002 have thus far been collected in 2004 and 2006, with additional data collection planned for 2012 (NCES n.d.a). More recently, the High School Longitudinal Study of 2009 collected a first wave of data from more than 21,000 ninth graders who will be followed through 2021 (NCES n.d.c). This series of studies allows comparisons of youth across generations and time periods, as well as longitudinal analyses within cohorts. The NELS:88 is the most recent study in the series for which data collection has now been completed. It began in 1988 with a survey of a nationally representative sample of eighth graders. Follow-up surveys were conducted in 1990,


1992, 1994, and 2000 with a sample of the original respondents (NCES n.d.d). Data collection included surveys of the students themselves, as well as their parents, teachers, and schools. While the focus of the surveys was on issues related to education, some health-related topics (e.g., tobacco, alcohol, and drug use) were also included (Hollar and Moore 2004). The base year of NELS:88 used a two-stage stratified national probability sample of 1,052 public and private eighth grade schools, with randomly selected eighth graders from each school in the sample (Curtin et al. 2002). In addition to following these youth for the next several years, the 1990 and 1992 samples were “freshened” with additional students to provide national cross-sections of 10th graders (in 1990) and 12th graders (in 1992; Curtin et al. 2002). Base Year (1988) and first follow-up (1990) data collection relied on written surveys. The second and third follow-up surveys were conducted primarily as computer-assisted telephone interviews (CATI). The final follow-up survey utilized CATI, combined with computer-assisted personal interviews (CAPI) where in-person follow-up was required (NCES n.d.e). In some waves, survey data were supplemented with cognitive tests and school transcripts (Curtin et al. 2002). There are multiple methods of identifying youth with disabilities in the sample (Rossi et al. 1997). The most comprehensive set of questions was asked of parents in the base year survey. Teachers were given a more limited set of questions at first follow-up, at which point students were also asked to self-report disability. At the second follow-up, students were again asked to self-identify, and school administrators were asked a single disability-related question. Although the NELS:88 used school-based sampling, surveys of school dropouts were included in the first and second follow-ups (Curtin et al. 2002). Enrolled students, however, may not have been included in the sample for a variety of reasons. Certain types of schools were excluded from sampling, including Bureau of Indian Affairs schools, special educational schools, area vocational schools, and Department of Defense schools for dependents of military personnel


serving overseas. In addition, students were excluded from participation in the base year survey if language or physical or mental disability was thought by school officials to preclude ability to complete the questionnaire. In fact, as many as half of IDEA-qualifying students may have been excluded (Hollar 2005; Rossi et al. 1997). At the first follow-up, some of these students were reassessed and a subset of them was deemed eligible for inclusion and added to the sample (Curtin et al. 2002). Public-use data files can be downloaded or requested on CD-ROM through the NELS:88 website: http://nces.ed.gov/surveys/nels88/. Data are available for free. More detailed datasets that include identifiable information are restricted to licensed users only. Users can apply for a license electronically through the website.

16.4.3 Youth Risk Behavior Surveillance System The YRBSS is a set of cross-sectional surveys used to obtain data on key health risks, as well as priority health conditions such as asthma and obesity. This surveillance system was developed by the CDC, and has two parts: (1) a national survey conducted by the CDC and (2) local surveys administered by states, tribes, or local education or health agencies (Brener et al. 2004). Both parts consist of written surveys administered through public and private schools. Students complete the questionnaires anonymously in the classroom setting. In order to be included in the national survey, youth must be enrolled in grades 9–12 in one of the schools randomly selected to make up the nationally representative sample. Within each selected school, classrooms are randomly selected to participate. Only schools with a response rate of 60% or higher are included in the final weighted sample (Brener et al. 2004). The 2005 national survey included an item asking about any physical disability or long-term health problem. Thus, youth with both disabilities and chronic conditions were likely included, with no ability to make further distinctions among the respondents. Conversely, youth with nonphysi-

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cal disabilities were likely not identified by this question. No disability questions have been included in other survey years (Jones and Lollar, September, 2010, personal communication). Local jurisdictions follow similar sampling methods to obtain data representative of their particular jurisdictions. Some of these surveys include middle school students as well as high school students (Brener et al. 2004). The CDCdeveloped questionnaire template for local surveys does not include questions to identify youth with SHCN or disabilities. However, state or local jurisdictions can choose to add questions for local implementation. As discussed earlier, some states have added disability/SHCN identifiers in some years. As with the national disability question, some of the state-added items have combined disability and health problems (Hollar 2005), complicating health assessments of youth with disabilities. Aside from the specifics of disability items, the national and local YRBS surveys share similar strengths and weaknesses. A strength is that they are based on youth self report. Thus, the resulting data are “straight from the horse’s mouth” so to speak. These cross-sectional surveys are conducted every other year (Brener et al. 2004). This means that up-to-date information is available in a timely manner. To the extent that questions are consistent across years, the regular implementation schedule also provides excellent data on health trends. An important weakness is that youth are only included if they are enrolled in school, attending the day the survey is administered, and capable of completing a written survey without assistance (Jones and Lollar 2008). Furthermore, youth in special education classrooms are not included (Horner-Johnson et al. 2003; Jones and Lollar 2008). As with all cross-sectional data, findings from the YRBS can only be interpreted as associations between variables, not as cause-effect relationships. National data are publicly available and can be downloaded from the CDC’s YRBSS website: http://www.cdc.gov/HealthyYouth/yrbs/index. htm. The website also includes information on survey methodology, data users’ manuals and

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analysis resources, and publications of YRBS findings. State and district data files are controlled by the jurisdictions that conducted the surveys; however, some of these sites have given the CDC permission to distribute their files to the public. There is a link on the CDC website for requesting information about obtaining data from states or districts.

16.5 Household Surveys 16.5.1 National Health Interview Survey (NHIS) The oldest nationwide population health survey in the United States, the NHIS was mandated by the National Health Survey Act of 1956, which provided for ongoing study of the prevalence and effects of illness and disability in the United States The NHIS was implemented the following year and in 1960 was assigned to the CDC’s newly formed National Center for Health Statistics (CDC 2011a). Its value as a public health tool was demonstrated in its very first year, during a flu epidemic in the fall of 1957, when the NHIS was able to provide weekly estimates of the number of incident cases, rather than deaths (Kovar 2002). In the 1960s, results from the survey were instrumental in formulation of Medicare and Medicaid programs. Over the years, the NHIS has become established as one of CDC’s major data collection systems, serving as the main source of population data used for tracking health status, access to health care, and progress toward achieving national health objectives. Recent examples of population health initiatives triggered by NHIS findings include development of the CDC’s cervical cancer screening policy, tracking of Healthy People objectives, and federal monitoring of health insurance coverage (CDC n.d.). The NHIS is a cross-sectional household interview survey representing the entire civilian, noninstitutionalized population of the United States. Sampling and interviewing are conducted continuously and public data files are provided annually. In each state and the District of Columbia, sample households are selected using a mul-


tistage area probability design with oversampling of households containing individuals who are Black or Hispanic (beginning in 2000) or Asian (beginning in 2006). The sample design is updated after each decennial US Census, and currently permits analysis at the national level, by Census region (Northeast, Midwest, South, West), and by state; however, state-level analysis requires merging data from multiple years in order to obtain reliable results. Sample size for each survey year is targeted at about 87,500 individuals from a total of about 35,000 households (CDC 2011a). The NHIS questionnaire is divided into two parts: Core questions and Supplements. The Core questions are in turn administered in four components: Household, Family, Sample Adult, and Sample Child (CDC 2011a). The Household Core and Family Core components collect and verify demographic information. The Family Core questionnaire further covers health status and limitations, injuries, access to and utilization of health care, health insurance, and financial resources. From the Family Core interviews, a person file is generated with a record for each individual in each participating family and household (CDC 2011a). The Sample Adult component is administered to one randomly selected adult from each household. Similarly, the Sample Child component is administered for one child from each participating household with children under 18. If two or more children are present, one is selected at random to participate. An interview is administered to a parent or other adult caregiver in the household who is familiar with the selected child’s health. The Sample Adult and Sample Child components collect information on individual health status, chronic health conditions, health care experiences, and health behaviors (CDC 2011a). Content of the Core components, which is consistent from year to year, is augmented by Supplemental questionnaires as needed to address specific questions and issues of concern to MCHB or other government agencies (CDC 2011a). Questions pertaining to special health care needs and disability of children and youth are included in the Family and Sample Child components of the NHIS. The Family component asks about play activity limitations (age 0–4 years),


Special Education or Early Intervention (age 0–18 years), self-care limitations (age 3 years and up), and for all ages, limited mobility, cognition, or activities because of physical, mental, or emotional problems. The Sample Child component collects information about hearing or vision impairment, use of special equipment or long-term limited mobility due to an impairment or health problem, and use of prescription medication for 3 months or more (CDC 2011a). As described previously, the 1994 and 1995 NHIS-D was designed to collect policy-relevant data that could be used to inform implementation of the 1990 Americans with Disabilities Act. Phase I of the NHIS-D was administered with the NHIS Core in both years, adding child-level information about chronic illness, special health heeds, special education services, and, for children under 5, early childhood development. In phase II, the Disability Followback Survey (DFS) surveyed children with disabilities concerning utilization and need for services, functional assessment of physical, emotional, and behavioral development, and impact of children’s disability on families (CDC 2009a). The NHIS has much to offer as a data resource for researchers interested in examining disability and special health care needs of children and youth. NHIS Core questions address the complexity of these issues by identifying specific areas of limitation and following up with detailed questions to establish their extent, duration, and details of any underlying chronic health conditions. The four Core component questionnaires offer contextual information rarely included in other surveys, not the least of which is the availability of disability and health data for all family members. An added advantage is cross-verification of responses between components, which strengthens the validity of key results. In 2002, the CSHCN Screener was included as a supplement to the Child Health Care Access and Utilization section of the NHIS, for comparison of in-home interview results with results obtained from two national telephone surveys that also use this measure (NCHS 2010; also see Bethell et al. 2008). Although the Screener questions were not repeated in subsequent years, ef-

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forts have been made to develop an algorithm to replicate the CSHCN Screener based on core and sample child questions (Davidoff 2004). At the national level the sample size of the NHIS is large enough to support complex multivariable analysis with a wide-ranging selection of demographic, health, health care, and insurance characteristics. A 1997 revision, which established the Core and Supplemental questionnaires, facilitates pooling of data from multiple survey years (NCHS 2010). This has increased capacity for trending of results over several years and improved the survey’s potential for providing reliable results within selected states or subpopulations (NCHS 2010). Supplemental questionnaires enhance the responsiveness of the NHIS by offering a vehicle for timely data collection on topics of special concern, which can be studied within the context of information from the Core components (CDC 2011a). Perhaps the most valuable feature of the NHIS is its position as a hub for linkage between various national data sources including NCHS mortality data, Medicare enrollment and claims data, Social Security Benefit History data, the National Immunization Provider Records Check Survey, and the Medical Expenditure Panel Survey (described below; CDC 2010). Among the limitations of the NHIS are variations in sampling, data collection, and weighting methods that have occurred over the years. Researchers interested in trending or comparing results from different survey years must carefully consider how methodological changes may affect their findings. The same is true when pooling results from multiple years. Also, although the population represented by the NHIS includes most US residents, some segments of the population are excluded. Among these are individuals living in long-term care facilities, prisons or other institutional settings, members of the Armed Forces who are on active duty, and US nationals living in foreign countries (CDC 2011a). NHIS and NHIS-D public data files and documentation are available to the public and may be downloaded from the NCHS website at: http:// www.cdc.gov/nchs/nhis.htm.

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16.5.2 Medical Expenditure Panel Survey The MEPS is a set of large-scale national surveys of families and individuals, their medical providers, and employers (AHRQ 2009). The MEPS has been conducted annually by the AHRQ since 1996 and serves as a comprehensive source of nationally representative data on health, utilization of health care, and health expenditures. The MEPS collects information about children’s functional limitations and has included the CSHCN Screener questions since 2001 (AHRQ 2009). At the core of the MEPS is the Household Component (MEPS-HC), which employs a sampling design that features overlapping panels of households. Each panel participates in five rounds of interviews yielding data covering two calendar years. Every year a new MEPS panel is selected from a subsample of households participating in the previous year’s NHIS. Consequently, at any given point in time, data are being collected simultaneously from two panels, one in its first year and another in its second. Annual MEPS samples from 2001 forward have included about 12,800 households with 32,500 individuals, of whom roughly 9,700 are children under the age of 18 years (AHRQ 2009). Data collection for the MEPS-HC is divided into sections covering various topics. Some sections are included in every round, while others are asked in only one or two rounds. Personal household interviews are conducted using laptop computers with CAPI software, which guides participants through the intricate array of questions and complex skip patterns specified for each round of interviewing. MEPS-HC public data files include demographic characteristics, health conditions, health status, use of medical care services, charges and payments, access to care, satisfaction with care, health insurance coverage, income, and employment. Data collected from medical providers of survey participants are used to verify and supplement information provided by household members (AHRQ 2009). MEPS data are available in Longitudinal Data Files containing data for the full 2 years


of a given panel, and in Full Year Consolidated Data Files providing person-level data covering a calendar year (drawn from a subset of interview rounds for two overlapping panels). Weighting and other design variables for individual and family-level analysis are provided, as are keys for linking with NHIS and other MEPS data files, Area Resource Files, and other Census Bureau data (AHRQ 2009). Among the strengths of the MEPS data is its capacity for analysis of health care costs and services among CSHCN overall, within subgroups of CSHCN, and compared with children who do not have special health care needs. The panel format permits longitudinal analysis of up to 3 years of data on participants when MEPS files are linked with NHIS data. Because all family members are interviewed, MEPS data permits study of the impact of disability and SHCN on family members and family systems. The capacity to link MEPS records with census and hospitalization data further enhances its utility. Data files from multiple years can be pooled to enable complex statistical analyses as well as research on smaller subpopulations (AHRQ 2008). A limitation of the MEPS is that its public-use data files do not include state identifiers and cannot, therefore, be used for state-level analysis or comparisons. Analyses below the regional level require utilization of restricted data files, which can only be accessed at specific locations after approval from AHRQ (AHRQ 2008). MEPS information, data files, and documentation are available to the public and may be found on the AHRQ website: http://www.meps.ahrq. gov/mepsweb/. The website offers assistance in locating and learning how to use the many data files that are available for public use.

16.6 Prevalence Estimates from Surveys Questions assessing functional limitations in youth surveys vary from survey to survey. Thus, each data source yields a different estimate of the prevalence of disability within the youth population. Furthermore, when surveys have multiple


questions identifying functional limitations, researchers may choose to use only certain questions or combine the available questions in different ways from study to study. For example, Ford et al. (1999) selected just one of the physical disability questions in the Add Health dataset and thereby identified only 2.6% of US adolescents as disabled. Cheng and Udry (2002) combined multiple disability-related variables in the same dataset to yield a prevalence estimate of 6%. Similarly, researchers may choose various ways of analyzing disability data in NELS:88. There is poor-to-moderate agreement among reports of disability from youth themselves, their parents, teachers, and school administrators. Prevalence estimates in cross-sectional analyses of data from a given wave range from 2.8% for self-identification at second follow-up to 11.7% for parental identification at base year (Rossi et al. 1997). In 2005, when the national YRBS included a disability identifier, it asked about any physical disabilities or long-term health problems. In response to this question, 10.3% of youth answered affirmatively. Individual states have taken more expansive approaches with their YRBS questions, asking about a range of physical and mental conditions and activity limitations. Such an approach has resulted in youth disability prevalence estimates ranging from 22% to 37% (Horner-Johnson 2011; Simeonsson et al. 2002). Even when a set of questions is implemented and analyzed consistently across surveys, as in the case of the CSHCN Screener, prevalence estimates may vary somewhat due to differences in survey methodology. Bethell et al. (2008) reported on variation in the prevalence and characteristics of children with special health care needs identified using the CSHCN Screener in three national surveys: the 2001 NS-CSHCN, the 2003 NSCH, and the 2001–2004 MEPS. Their findings confirmed that CSHCN prevalence remains stable if measured repeatedly using consistent administration methods, as was done in the 2001–2004 MEPS. However, when methods of administration varied, the preva-

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lence rates also varied. Estimated prevalence in the 2001 NS-CSHCN was 12.8%, about 5% less than in the 2003 NSCH (17.6%) and as much as 6.5% less than in the MEPS surveys (18.8– 19.3%). Comparative analysis of the health characteristics of CSHCN identified in each survey suggested that children with less serious health consequences may have been less likely to be identified in the NS-CSHCN than in the NSCH and MEPS. The authors concluded that because CSHCN prevalence estimates vary even when the same definition and tool are used but administered differently, it may be best to express the prevalence of special health care needs as a range, rather than a point estimate. (Bethell et al. 2008).

16.7 Examples of Health Findings Using Survey Data Countless studies have been conducted using data from the sources described above. This section summarizes a handful of examples of findings related to the health of children and youth with SHCN and/or disabilities. Using Add Health data, Blum et al. (2001) studied adolescents with mobility disabilities, focusing specifically on those who had difficulty with a limb and used an artificial limb (in an effort to avoid inclusion of youth with nonpermanent injuries lasting 12 months or more). Their mobility disability sample also included youth who considered themselves to have a disability or thought they were considered by others to have a disability. In addition, the authors studied adolescents with emotional disabilities (in the upper quintile of emotional distress scale) and learning disabilities (receiving special education and having difficulty with school work on a daily or near daily basis). Blum et al. (2001) found that adolescents with each type of disability were significantly more likely than youth without disabilities to smoke cigarettes and drink alcohol regularly, to have first had intercourse before the age of 12 years, and to have attempted suicide within the past year. Furthermore, youth with disabilities had greater exposure to risk factors associated

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with each of the above behaviors, including more exposure to violence, greater chance of having a relative who had committed or attempted suicide, higher likelihood of being on welfare, more likely to be a sexual minority (i.e., not heterosexual), and more likely to live in a home with a gun. Conversely, exposure to protective factors such as family connectedness, parental expectation of school completion, engaging in activities with parents, self-esteem, and scholastic achievement were all lower for these youth. Cheng and Udry (2002) analyzed Add Health data regarding sexual behaviors of adolescents with physical disabilities. Their definition of physical disability incorporated youth and parent responses to questions about difficulty using limbs, underlying conditions causing the difficulty, use of assistive devices such as canes or wheelchairs, and use of braces or artificial limbs, as well as interviewer assessments of sensory disabilities (blindness in one or both eyes; deafness in one or both ears). Disability was then categorized by the researchers as minimal, mild, or severe based on the number of different conditions experienced by youth. Overall, girls with disabilities were twice as likely as nondisabled girls to have been forced to have sex. Unfortunately, boys were not asked whether they had been the victims of forced sex, but only whether they had been perpetrators. Minimally disabled boys were three times as likely as nondisabled boys to admit that they had forced sex on others. Both boys and girls with disabilities were as likely or more likely than youth without disabilities to have engaged in consensual sex. Furthermore, girls with severe disabilities held more positive attitudes toward pregnancy than did their nondisabled counterparts, while boys with severe disabilities had poorer knowledge of birth control than nondisabled boys. In addition, boys with disabilities, regardless of severity, were more likely than other boys to think that birth control is expensive. This combination of responses suggests that adolescents with disabilities may be at greater risk of experiencing or causing teenage pregnancy. Ford et al. (1999) used Add Health data to examine foregone health care among adolescents.


Foregone health care was defined as not having had a physical exam within the past year. One of the factors they considered was disability, defined as an affirmative response to a single question about difficulty using hands, arms, legs, or feet because of a physical condition. Adolescents with disabilities were about twice as likely as nondisabled youth to have foregone health care in the past year. The association between disability and foregone care remained significant for both boys and girls when controlling for other factors, such as age, race and ethnicity, family characteristics, and insurance. NELS:88 data have been used to examine substance use among youth with disabilities (Hollar and Moore 2004; Hollar 2005). In these studies, youth with disabilities were defined based on parental responses to base year questions about vision, hearing, speech, physical, learning, and emotional impairments. Although comparisons were not made to youth without disabilities, youth with different types of disabilities were compared with each other. Those with learning, emotional, or multiple disabilities were most likely to engage in binge drinking and marijuana use (Hollar 2005). Furthermore, youth with disabilities who smoked every day, engaged in binge drinking, or used marijuana or cocaine had poorer educational, social, and employment outcomes than youth who did not participate in these risk behaviors (Hollar and Moore 2004). Jones and Lollar (2008) analyzed 2005 data from the national YRBS to study health risks among youth with physical disabilities or longterm health problems in comparison to other youth. Youth with disabilities or long-term health problems were substantially more likely to describe their health as fair or poor. Youth with disabilities/health problems were also significantly more likely to be current cigarette smokers, marijuana users, and alcohol users. They were more likely to have ever had sex, had sex with four or more partners, and been forced to have sex. Youth with disabilities or chronic health problems were significantly and substantially more likely to report feeling sad or hopeless, having seriously considered suicide, or having attempted suicide.


These youth were also more likely to have been in a physical fight, more likely to use computers 3 hours or more per day, and more likely to be overweight. Data from state-level YRBS surveys with disability-related questions have yielded comparable findings. Analyses of 1999 Oregon data by the Oregon Office on Disability and Health (Horner-Johnson et al. 2003; 2005) showed that youth with medical conditions, emotional conditions, or learning disorders were significantly more likely to have experienced physical abuse, sexual abuse, and depression, and to have considered or attempted suicide. These youth were also much more likely to report unmet needs for health care. Youth with emotional or learning disabilities were more likely than other youth to have used cocaine or methamphetamines at least once, and were more likely to regularly smoke, use marijuana, and engage in binge drinking. When controlling for limitations in activities, Tsu (2002) found that some of the effects of medical conditions and learning disorders were no longer significant, suggesting that the presence of an activity limitation is particularly linked to risky behaviors and negative experiences. Analyses of 2004, 2006, and 2008 Oregon data regarding youth with activity limitations confirmed that these youth were less likely than their peers to be physically active and more likely to be overweight. They were also more likely to smoke, use drugs, have experienced physical or sexual abuse, and to have seriously considered suicide (Horner-Johnson 2007; 2011). Similar patterns have been reported by researchers in North Carolina and Washington, as summarized by Hollar (2005) and Jones and Lollar (2008). Nageswaran et al. (2008) used the 2001 NSCSHCN to explore whether CSHCN with functional limitations had different health care needs and experiences than CSHCN with no functional limitations. Based on responses to two items in the questionnaire, the authors defined three categories: severe limitation, some limitation, or no limitation, according to the frequency (never, sometimes, usually, always) and amount (very little, some, a great deal) of impact of health conditions on the ability of CSHCN to do things

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other children their age do. Results of the study indicated that, when compared with those with no functional limitations, CSHCN with severe limitations were eight times as likely to need therapy services, seven and half times as likely to need early intervention or special education services, and five times as likely to need home health services, medical equipment, or mobility devices. The odds of CSHCN with severe functional limitations having poor access to health care, unsatisfactory interactions with health care providers, or inadequate health insurance, were significantly higher compared with CSHCN without functional limitations. The financial issues faced by families of CSHCN with severe functional limitation were striking: the odds of a family member having to quit a job, cut back on work, or the family experiencing financial problems resulting from the child’s health condition were six to seven times as high as for CSHCN with no limitations. CSHCN with severe limitations were also five times as likely to need additional family income to cover their health costs or to have missed more than 2 weeks of school. The authors concluded that functional limitation is an important factor in health care disparities and must be considered in planning of health services for CSHCN. Ghandour and colleagues used data from the 2005–2006 NS-CSHCN to analyze prevalence and correlates of internalizing mental health symptoms among CSHCN (Ghandour et al. 2010). The authors reported that nearly one-third (31.9%) of CSHCN between the age of 3 and 17 years experienced internalized mental health symptoms such as depression, anxiety, or eating disorders. They identified several sociodemographic and health characteristics that were significantly correlated with presence of internalizing mental health symptoms. Among the strongest of these predictors were behavioral problems or disorders and autism spectrum disorders. Significant effects were also found for children with frequent headaches or chronic pain, and for children living in households experiencing disruption of employment or financial burden resulting from the child’s health needs (Ghandour et al. 2010). These findings underscore the importance

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of ensuring both the physical and mental health of CSHCN, particularly with respect to depression screening and mental health services in the primary care setting. An illustration of research utilizing the broader capabilities of the NS-CSHCN is provided by a recent study on the adequacy of health insurance among CSHCN, which supplements its findings from the 2005–2006 NS-CSHCN interview data with results from the concurrently conducted national referent sample of non-CSHCN (Honberg et al. 2009). Analysis revealed that although CSHCN were more likely than non-CSHCN to be insured at the time of the survey and continuously during the previous 12 months, their coverage was less likely to meet MCHB core outcome criteria for adequate health insurance coverage. Among CSHCN, the proportion with adequate health insurance increased a small but significant amount, from 59.6% in the 2001 survey to 62.0% in 2005–2006. CSHCN who did not have adequate health insurance were more likely to have unmet health care needs or experience family financial problems resulting from their health conditions (Honberg et al. 2009). An article recently published in the New England Journal of Medicine described a study similar to the one summarized above, but using data from the 2007 NSCH to examine the adequacy of health insurance coverage among all children (Kogan et al. 2010). Several survey items were used to construct a multivariate outcome measure categorizing children’s health insurance coverage over the 12 months prior to and including the survey as: Never Insured, Sometimes Insured, Underinsured (continuously insured but inadequately covered), or Fully Insured (continuously insured and covered adequately). Among the results of this study was the finding that 25% of CSHCN nationwide were Underinsured, compared with 18% of non-CSHCN. Compared with children without special health care needs, CSHCN were 1.3 times as likely to have inadequate coverage of needed services, 1.5 times as likely to have inadequate access to needed providers, and 1.5 times as likely to have out-ofpocket medical costs characterized by parents as unreasonable (Kogan et al. 2010).


Utility of the NSCH and NS-CSHCN for statelevel analysis is exemplified in a study of health care quality in Alabama, using the 2003 NSCH (Mulvihill et al. 2007). Based on a composite measure of medical home, the authors found that CSHCN fared much better on the medical home measure in Alabama (51%) than nationwide (44%). There was no significant difference in prevalence of medical home between CSHCN and non-CSHCN in Alabama, but there were differences in specific components of the medical home measure. When compared with nonCSHCN, CSHCN had better outcomes on the three basic components of medical home: having a personal doctor or nurse (91% compared with 85% among non-CSHCN), having a preventive health care visit within the past 12 months (89% compared with 75%), and communication with health care providers (85% compared with 79%). CSHCN fared poorly on one of the secondary medical home components: 17% had moderate or big problems accessing specialty care, equipment, and services, compared with 6% of nonCSHCN. Van Cleave and Davis (2006) conducted a study of bullying and peer victimization among school-aged children. Based on data from the 2003 NSCH for children and adolescents between the age of 6 and 17 years, the study found that nearly one in every three CSHCN were bullied by other children. Adjusted odds of CSHCN being bullied were significant but not high—20% higher than the odds for non-CSHCN. CSHCN status was not significantly associated with either bullying other children or engaging in bullyvictim behavior. CSHCN who qualified based on ongoing emotional, developmental, or behavioral conditions requiring treatment were significantly more likely than other children (CSHN and nonCSHCN) to be bullied, bully other children, or be both bully and victim. For the most part, survey measures of disability, functional limitation, or health consequences have avoided one aspect of disability that defies operationalization—increased risk (see Loprest and Davidoff 2004). Although the MCHB definition of children with special health care needs includes children who are at risk for having spe-


cial health care needs, the CSHCN Screener does not account for children who do not currently have SHCN. An analysis of 2003 NSCH data (Newacheck et al. 2008) explored measurable characteristics that might contribute to increased or decreased risk of developing SHCN, using a population health model developed by Newacheck et al. (2006) based on work of the National Committee on Vital and Health Statistics. The NSCH is especially appropriate for this question because its sample represents all children whether or not they have special health care needs, and because it provides information at the levels of individual child, family, and neighborhood environment. The study examined characteristics in six domains. Five of these domains were significantly associated with SHCN: predisposing characteristics, genetic endowment, physical environment, social environment, and healthinfluencing behavior. The sixth domain, health care system characteristics, yielded no significant results. Among the specific characteristics identified as being associated with SHCN, were some traits (e.g., age, gender, ethnicity) that are not amenable to intervention as well as some that may hold potential for change. The latter category included breastfeeding, second-hand smoke exposure, family relationships, and supportive neighborhoods. The authors proposed further examination of these and other possible risk factors, with the goal of beginning to shape a more comprehensive approach to identifying, measuring, and addressing factors that contribute to special health care needs among children. Stein et al. (2006) used data from the 2002 NHIS in their exploration of the hypothesis that low birth weight is associated with poor health outcomes, including SHCN. Some may take issue with the assumption that SHCN are synonymous with poor health. However, SHCN as an outcome is a valid construct. This study found that compared with normal birth weight (2,500 g or more), moderately low birth weight (1,500– 2,499 g) was associated with several negative health outcomes in children up to 12 years of age. These outcomes included having an SHCN, a chronic health condition, a learning disability, or an attention-deficit disorder. Health outcomes

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that were not significantly associated with low birth weight included hospitalization within the past year, other behavioral disorders, minor health conditions, or acute illnesses. Amy Davidoff published a report describing development of a measure of CSHCN, which could be applied to NHIS data in years when the CSHCN Screener was not included (Davidoff 2004). Using data from 1997, 1999, and 2000 NHIS, survey items were identified and threshold values assigned with the goal of replicating the content and logic of the CSHCN Screener. The resulting algorithms combine criteria for activity limitation and chronic health conditions to estimate prevalence of CSHCN in earlier NHIS years. These estimates compare reasonably well with known prevalence in subgroups and with results from the CSHCN Screener, QuICC, and MCHB estimates. The impact of CSHCN on low-income parents’ decisions about employment was the subject of a study using a pooled sample from the 1999 and 2000 NHIS of 4,700 single-parent families with income below 200% of the Federal Poverty Level (Loprest and Davidoff 2004). The algorithm described above (Davidoff 2004) was used in the combined 1999–2000 NHIS to identify families in which the sampled child had SHCN ( n = 752). Overall, the study found no significant difference in workforce participation of parents, based on whether or not children had SHCN. However, parents of CSHCN with activity limitations were significantly less likely to be employed, and those who were employed worked fewer hours, than parents of other CSHCN and non-CSHCN. The MEPS surveys lend themselves especially well to analysis of health care utilization and expenditures, as illustrated by two studies exploring health care utilization and expenditures among children with and without special health care needs. Newacheck et al. (2004) used data from the 1999 and 2000 MEPS and focused on children with disabilities, defined as those who were limited in age-appropriate activities or who received early intervention or special education services. Compared with children without disabilities, children with disabilities were found

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to have more and longer hospital stays, more visits to physicians and other health care providers, more prescriptions for medication, and more home health provider days. Not surprisingly, health expenses overall as well as out-of-pocket expenses for these children were much higher than for those without disabilities. Among children with disabilities, distribution of medical expenditures was highly skewed. Nearly twothirds (64.9%) of overall health care expenses were incurred by 10% of the population. Similarly, 85% of out-of-pocket expenses were concentrated in the highest decile (Newacheck et al. 2004). Further analysis revealed that, although out-of-pocket expenses were higher for children from high-income families (at or above 400% of Federal Poverty Guidelines (FPG)), low-income families (less than 200% of FPG) spent a much higher proportion of their household income on out-of-pocket medical expenses. The risk of having more than 5% of family income consumed by medical bills was 19 times as high among lowincome children with disabilities, compared with those from higher income families. Insurance status was found to be associated with lower outof-pocket expenses. A subsequent study examined utilization and expenditures among CSHCN as defined by the CSHCN Screener in the 2000 MEPS, with similar findings (Newacheck and Kim 2005). Yu et al. (2008) used a family-level approach to examine out-of-pocket health care expenses with MEPS data. Families were grouped according to whether one child or more met CSHCN Screener criteria. The outcome was defined as health-related costs paid by the family for all family members as a percentage of total family income, with indicators of catastrophic medical expenditure set at more than 10% and more than 20% of total family income. Trend analysis revealed that, as the cost of health care rose from 2001 through 2004, the financial burden borne by families of CSHCN also increased. The percentage of families with CSHCN whose out-ofpocket expenses exceeded 10% of their income grew from 15.4% in 2001 to 21.7% in 2004; the proportion with over 20% burden doubled, from 4.6 to 9.2%. The authors established that


higher out-of-pocket expenditures by families of CSHCN in 2004 reflected higher costs for the same medical services, rather than increased utilization (Yu et al. 2008). The increased costs were attributed to reductions in health care insurance benefits offered by employers. Analysis of the outcomes by family insurance status and type (public or private) showed that, among families with CSHCN, the risk of catastrophic out-of-pocket medical expenditures was much lower for those who had public insurance coverage, compared with those with private health insurance plans. The Center for Children and Adolescent Health Policy reported recently on a study of the well-being of parents who care for children with activity limitations (Kuhlthau et al. 2010). Their analysis of MEPS data from 1996 through 2001 evaluated indicators of parents’ health status, use of health care services, employment, and financial status, based on whether or not they had a child with limited ability to participate in school, social, or play activities. Parents of children with disabilities were found to have significantly more adverse outcomes overall than parents of children with no disabilities. Adverse outcomes were more common among parents of children with activity limitations across many indicators of parent well-being: quality of life, activity limitation, visits for sick care, employment, loss of work days, and out-of-pocket expenditures (mean amount and above 5% of family income). These studies provide but a sampling of the many ways in which survey data can be used to obtain information about the health and well-being of children, youth, and families impacted by SHCN and/or disabilities. These data are important for informing intervention and policy efforts at both state and national levels.

16.8 Summary The surveys described above are examples of the wealth of population-based data available pertaining to children and youth with SHCN and disability. Although disability is defined and measured in different ways in different sur-


veys, there are many similarities in the findings. Across data sources, children and youth with SHCN or disability appear to be at greater risk for a range of health problems as well as unmet health care needs. Population-based data are crucial not only for identifying these problems, but also for tracking the success of efforts to address them. In addition to the surveys described here, there are several others with relevant data, such as the National Health and Nutrition Examination Survey (NHANES) conducted by the CDC’s NCHS and the Early Childhood Longitudinal Studies (ECLS) sponsored by NCES. Many of these data sources are easily accessible to the general public. They serve as important tools to inform policy and practice in working to improve the health of children and youth with SHCN and ensure that they achieve optimal health and wellbeing as adults.

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W. Horner-Johnson and K. Newton U.S. Department of Health and Human Services, Health Resources and Services Administration, Maternal and Child Health Bureau. (2008). The National Survey of Children with Special Health Care Needs chartbook 2005–2006. Rockville: U.S. Department of Health and Human Services. Van Cleave, J., & Davis, M. M. (2006). Bullying and peer victimization among children with special health care needs. Pediatrics, 118(4), e1212–e1219. Yu, H., Dick, A. W., & Szilagyi, P. G. (2008). Does public insurance provide better financial protection against rising health care costs for families of children with special health care needs? Medical Care, 46(10), 1064–1070.

Secondary Conditions in Youth with Disabilities

17

Jennifer L. Rowland

Abstract

Healthy People 2010 (U.S. Department of Health and Human Services 2000, Chap. 6, Disability and Secondary Conditions) identifies secondary conditions as “medical, social, emotional, family, or community problems that a person with a primary disabling condition likely experiences,” which includes physical and psychological conditions that might emerge following primary disability but which also includes the impact of attitudes of other people on primary and secondary disabilities. In the Institute of Medicine’s (IOM) 2007 report, The Future of Disability in America, secondary condition risk is dependent on an individual’s primary disabling condition and therefore the risk of secondary conditions will differ among people. The IOM report also points out that behavior, lifestyle, and biological factors for a particular individual can affect the potential for developing participation restrictions, activity limitations, or additional impairments as a result of a particular secondary condition. The purpose of this chapter is to: (1) explore the variability in secondary condition definitions, (2) identify the types of secondary conditions published in the peer-reviewed literature for specific populations of youth, and (3) discuss the importance of secondary condition prevention efforts in improving quality of life for children and youth with disabilities. Abbreviations

ADHD Attention-Deficit Hyperactivity Disorder BMI Body Mass Index CINAHL Cumulative Index to Nursing and Allied Health Literature ERIC Educational Resources Information Center (Rockville, MD) ID Intellectual Disability IOM Institute of Medicine

J. L. Rowland () Department of Disability and Human Development, University of Illinois at Chicago, 1640 W. Roosevelt M/C 626, Chicago, IL 60608, USA e-mail: [email protected] D. Hollar (ed.), Handbook of Children with Special Health Care Needs, DOI 10.1007/978-1-4614-2335-5_17, © Springer Science+Business Media New York 2012

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NHANES National Health and Nutrition Examination Survey PubMed Publications in Medicine (US National Library of Medicine)

17.1 Introduction Most scholars agree that secondary conditions are preventable and are causally related to a primary disabling condition. However, the scope of what is considered to be a secondary condition has not been uniformly defined and has ranged from physical comorbidities to broader health care accessibility issues that can lead to poorer health and disparities among people with and without disabilities. With this debate about secondary condition definitions comes a need to operationalize them so researchers, clinicians, and public health program officials can effectively measure and prevent these conditions through education, advocacy, and policy changes. The purpose of this chapter is to: (1) explore the variability in secondary condition definitions, (2) identify the types of secondary conditions published in the peer-reviewed literature for specific populations of youth, and (3) discuss the importance of secondary condition prevention efforts in improving quality of life for children and youth with disabilities.

17.1.1 Secondary Condition Definitions Marge (1988) first stated that people with disabilities are at significant risk for “additional or secondary disabilities” (see also Institute of Medicine [IOM] 2007, p. 140). Pope (1992) defined secondary conditions as “…any additional physical or mental health condition that is causally related to a primary disabling condition” (p. 347). Since these initial definitions, there has been a debate about what constitutes a secondary condition. Some views favor a narrow scope of identifying secondary conditions as primarily physiological in nature. Examples of these secondary conditions would include pressure sores, urinary tract infections, and decondition-

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ing. Other broader views of secondary condition definitions include environmental factors such as access to health services and structural barriers located within the environment that affect the health status of people with disabilities. Counter to this view is that environmental barriers actually represent issues of limited participation, not secondary conditions. Those who argue for the narrower definition point out that when secondary conditions are thought of as expanding to include the larger issues of disability, this broad scope dilutes the larger need to promote access, modify attitudes, and increase societal participation. However, others point out that environmental barriers represent conditions affecting the health status of people with disabilities and therefore fall within a broad definition of secondary conditions. This broad definition is supported by the Healthy People 2010 Report (U.S. Department of Health and Human Services 2000, Chap. 6, Disability and Secondary Conditions), which lists secondary conditions as “medical, social, emotional, family, or community problems that a person with a primary disabling condition likely experiences.” What is needed is a clear way in which to define secondary conditions, which has not yet been determined based on differences within the literature. For example, some researchers include psychosocial factors such as “feelings of being isolated” and “problems getting around” in the definition of secondary conditions, whereas others adhere to a strictly body systems/structures (medical) definition. Some difficulties such as “problems getting around” could be attributed to internal problems such as muscular atrophy and fatigue, or to environmental conditions such as difficulty accessing a transportation system. Missing from the literature is scientific evaluation of secondary conditions in ways that allow for evidence-based practice using tested prevention interventions. A universal definition of secondary conditions would contribute to this level of examination and would allow for comparison of results across studies and populations. Despite these differences, there are common elements of secondary condition definitions: (1) (have) a causal relationship to the primary condition, (2) may be preventable, (3) may vary

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in its expression and the timing of its expression, (4) may be modified, and (5) may increase the severity of the primary condition (Turk 2006). As is discussed in the IOM’s 2007 report The Future of Disability in America, secondary condition risk is dependent on an individual’s primary disabling condition and therefore the risk of secondary conditions will differ among people. The IOM report also points out that behavior, lifestyle, and biological factors for a particular individual can affect the potential for developing participation restrictions, activity limitations or additional impairments as a result of a particular secondary condition. There are important distinctions between secondary conditions and other types of health conditions. As previously mentioned, a hallmark of secondary conditions is that they are preventable. Other conditions include associated conditions, defined by Turk (2006) as being aspects or features of the primary condition and include expected elements of its pathology. Comorbidity is another term to be distinguished from secondary conditions in that they develop independently of the primary condition. Examples include development of skin cancer by a person diagnosed with a traumatic brain injury (IOM 2007).

17.1.2 Common Secondary Conditions in Youth with Disabilities Secondary condition risk is different for individuals with disabilities depending on their primary disabling condition. To explore these differences, the following selective literature review identifies types of secondary conditions published in the peer-reviewed literature for youth with disabilities. Each article will be discussed separately and is referenced in Table 17.1.

17.1.3 Selective Review of the Literature on Secondary Conditions and Youth with Disabilities Given the broad scope of secondary conditions and the diversity of youth with various disabling

conditions, the review on this topic was limited to searches in PubMed, CINAHL, ERIC, and Social Work Abstracts databases for peer-reviewed articles published within the past 10 years and included variations of the terms secondary conditions and youth/children with disabilities, and specific disability groups (i.e., cerebral palsy [CP], spina bifida). Reference lists of articles located through these searches provided additional relevant citations on these topics.

17.2 Obesity In recent years, obesity has become more commonly reported as disproportionately affecting youth with disabilities as compared with their nondisabled peers (Rimmer et al. 2010; Rimmer et al. 2007; Yamaki et al. 2011). This health risk can led to a greater number of obesity-related secondary conditions (e.g., fatigue, pain, deconditioning, social isolation, difficulty performing activities of daily living) and can impose significant personal and economic hardship on activities and social factors within the individual and family. It has also been documented that people with disabilities are more likely to be sedentary and experience substantially more barriers to physical activity participation compared to the general population. These sedentary behaviors are likely to be higher among youth with disabilities because of physical, sensory, and/or cognitive impairments that make it more difficult to participate in competitive sports and recreational activities, youth with disabilities may avoid more physically demanding activities that require higher energy expenditure (i.e., soccer, basketball) and are therefore likely to have greater amounts of time (i.e., after school, weekends) spent in sedentary behaviors (Rimmer and Rowland 2008). Secondary conditions associated with a primary disability can also adversely impact a youth’s ability to participate in moderate to vigorous physical activity. For example, many youth with CP and spina bifida experience joint and muscle pain resulting from the long-term effects of spasticity or overusing muscle groups necessary for manually pushing a wheelchair or using crutches to ambulate. Low physical fit-

N = review of 38 articles; diagnosis: range of disabilities (physical and intellectual); age: not noted N = 748; diagnosis: varied disabilities; age: 0–18 N = 137; diagnosis: cerebral palsy; age: 2–18 years N = 88; diagnosis: acquired brain injury; age: between 2.4–17.7 years N = 13,917 total high-school students (10.3% had disabilities); diagnosis: physical disability or long-term health problem; age: 9th–12th grade N = 1,128; ages: 6–17.9 years; children included in analysis either had a physical limitation (impaired ability to walk, run, or play), learning disability, attention-deficit disorder, or received special education or early intervention services N = 140; ages: 3–18; diagnosis: ADHD or autism spectrum disorder

Reinehr et al. 2010

N = 20; diagnosis: Down syndrome; age: 5–11 years old N = 10 studiesa; diagnosis: intellectual disabilities; age: children and adolescents

Luke et al. 1996

Maïano 2011

N = 98 children; diagnosis: intellectual disabilities; age: 2–18 years

De et al. 2008

Curtin et al. 2005

Bandini et al. 2005

Jones and Lollar 2008

Patradoon-Ho et al. 2005

Hurvitz et al. 2008

Vélez et al. 2008

Population N = dependent on survey; diagnosis: range of disabilities (physical and intellectual); age: dependent on survey

Reference Rimmer et al. 2007

Table 17.1 Obesity and youth with disabilities

Retrospective chart review of children who sought care at a tertiary care clinic that specializes in working with children with developmental, behavioral, or cognitive disabilities Retrospective chart review from a diagnosis and assessment service for children and adolescents with developmental disabilities Clinical Research Center at the University of Chicago Medical Center Review of ten studies

1999–2002 National Health and Nutrition Examination Survey (NHANES)

Records from a free rehabilitation clinic in Punta Arenas, Chile Pediatric rehabilitation clinic in an academic medical center Brain injury clinic at a tertiary pediatric hospital 2005 North Carolina Youth Risk Behavior Survey in which they sampled high school students about their health risk behaviors

Data Analysis of multiple studies: 1999–2002 National Health and Nutrition Examination Survey (NHANES), 2005 Youth Risk Behavior Survey Review of 38 studies

Obesity; overweight

Obesity; low vitamin/nutrient intake

Overweight; obese

Overweight

Overweight

Overweight; extended periods of sadness; suicide ideations or attempts

Overweight; obesity

Overweight; underweight

Overweight; obesity; morbid obesity

Overweight; obesity

Secondary conditions Overweight; obesity

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N = 461; diagnosis: intellectual/developmental disabilities; age: 12–18 years

Rimmer et al. 2010

Other secondary conditions in youth with disabilities Decouflé and Autry 2002 N = 1,068; diagnosis: cerebral palsy, mental retardation, epilepsy, and hearing or vision impairment; age: 10 years Ko et al. 2006 N = 19 kids with cerebral palsy with tx of fracture (control group, N = 90 kids with cerebral palsy with no tx of fracture); diagnosis: cerebral palsy; age: 4 years, 5 months, 18 years, 11 months

Cardiovascular disease; neurological disease; epilepsy; oesophagitis; infections; asthma Femur fracture; tibia/fibula fracture

Cohort of children from the National Death Index, CDC (1985–1995) Residential rehabilitation setting in Hong Kong

Web-based surveys completed by parents of children with disabilities in the United States

Asthma; high blood pressure; high cholesterol; diabetes; depression; liver or gallbladder; low self-esteem; preoccupation with weight; Blounts disease; early maturation; GI problems; sleep apnea; bone or joint pain; fatigue; pressure ulcers High blood pressure; diabetes; preoccupation with weight; early maturation; asthma; high cholesterol

Overweight; obese; underweight; hypertension; elevated triglycerides Overweight; lower levels of physical fitness

Overweight; obese; underweight; spinal abnormalities; limb abnormalities

Data Secondary conditions Obesity Surveys were given at nine self-contained special education schools in central Scotland in 1997

Children were recruited from three special education programs and received a physical examination funded by the Bureau of Health Promotion in Taiwan Lin et al. 2010b N = 856; diagnosis: intellectual disabilities; age: School health charts of children in special education in Taiwan 15–18 years Children from eight special education proFrey and Chow 2006 N = 44; diagnosis: mild intellectual disability; grams in Hong Kong where their health and age: 6–18 years physical fitness were tested Obesity-related secondary conditions in youth with disabilities Yamaki et al. 2011 N = 208; diagnosis: varied disabilities (mobility Convenience sample of youth and parents and nonmobility limitations); age: 12–18 years who filled out web-based surveys

Lin et al. 2010a

Population N = 206; diagnosis: intellectual disability (had to be ambulatory and excluded diagnoses such as Down syndrome and Prader–Willis where increased obesity risk is known); age: average age: 13.3 years old N = 822; diagnosis: intellectual disabilities; age: 15–18 years

Reference Stewart et al. 2009


17 Secondary Conditions in Youth with Disabilities 339

N = 364; diagnosis: cerebral palsy (GMFCS III, IV, V); age: not noted in abstract N = n/a (review article); diagnosis: cerebral palsy; age: children (age not specified)

N = review of 13 studies; diagnosis: spina bifida; age: dependent on study

Stevenson et al. 2006

Simeonsson et al. 2002

Swiggum et al. 2001

Population N = 14,947; diagnosis: cerebral palsy; age: 0–18 years

Reference Murphy et al. 2006

Table 17.1 (continued) Data Kid’s inpatient database (KID) which documents information on pediatric hospitalizations from 2,521 US hospitals in 22 states and includes 1.9 million discharge records on sociodemographic, vital statistics, treatment, and outcome information Multicentre, region-based longitudinal study of growth, nutrition, and health Review article on pain in children with cerebral palsy, available pain assessments, and recommendations for pain management Review of 13 studies Spinal curvature such as scoliosis, kyphosis, or kyphoscoliosis; neurogenic bladder; hydronephrosis; paraplegia; tethered spinal cord; latex allergies; seizures; anesthetic skin; pressure sores (decubitus ulcers); obesity; precocious puberty; short stature; decreased visual acuity; may have difficulty with tactile perception, auditory concentration, perceptual organization, visual-motor integration, and fine motor skills; short attention span, intellectual delay, distractibility, and delays in the development of self-help; sleep difficulties

Pain

Secondary conditions Respiratory disorders; disorders of the nervous system (seizures, spasticity, hearing and vision impairments, strabismus and hydrocephalus); disorders of the musculoskeletal system; disorders of the digestive system; disorders of the nutrition/endocrine/metabolic system Fractures

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ness, balance impairments, and poor coordination skills also make it more difficult for youth with disabilities to participate in team sports with their nondisabled peers (Rimmer and Rowland 2008).

17.2.1 Obesity and Youth with Disabilities 17.2.1.1 Rimmer et al. (2007): Obesity and Secondary Conditions in Adolescents with Disabilities: Addressing the Needs of an Underserved Population The Department of Disability and Human Development at the University of Illinois at Chicago with support from the US Department of Education, National Institute on Disability and Rehabilitation Research addressed the importance of responding to the causes of obesity and the prevention of secondary conditions in adolescents with disabilities. A review of the literature shows that children and adolescents with physical and cognitive disabilities have a higher prevalence of overweight compared to their peers without disabilities. Overweight is a health risk that may lead to many secondary conditions that impact health and quality of life, such as fatigue, pain, deconditioning, social isolation, difficulty in performing daily activities of living, and can create an economic and personal hardship on the individual and family. The authors call for the creation of innovative ways to reduce and prevent obesity among adolescents with disabilities as they transition to adulthood. As a first step, the field must identify accurate measures that can be used to identify obesity among people with paralysis, paresis, or other significant disability that prevents the usefulness of most commonly utilized measurement tools. Any resulting treatment strategy should be based on empirical findings that systematically identify key factors that lead to higher levels of obesity among those with disabilities. These may include such key areas as genetic, dietary, knowledge, physical activity, medication, and environmental factors. Any resulting guidelines should identify weight management strategies

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for youth with disabilities that are interesting and relevant to the individuals, cost effective and proven to work.

17.2.1.2 Reinehr et al. (2010): Obesity in Disabled Children and Adolescents: An Overlooked Group of Patients A review of 38 published studies was undertaken to assist in the ongoing debate concerning the relationship between obesity and disability diagnosis. These studies reported that the prevalence of overweight and obesity in children with disabilities is almost twice that found among their nondisabled peers. However, no effective, longlasting interventions for prevention or treatment of obesity in this population were found. The authors conclude that effective strategies for prevention and management are urgently needed. 17.2.1.3 Vélez (2008): Nutritional Status and Obesity in Children and Young Adults with Disabilities in Punta Arenas, Patagonia, Chile Childhood obesity has been identified as a problem in this isolated region of Chile, as well as in other places around the world. However, there were little data in this region on comparisons of the health status of children with and without disabilities. To document the prevalence of nutritional status among children with disabilities the medial records of 748 children receiving physical therapy during 2005–2006 at a private rehabilitation clinic in Chile were systematically reviewed for demographic, clinical, and anthropometric data. As a comparison, the height and weight were also collected from 215 students without disabilities attending local schools. Nutritional status was calculated as body mass index (BMI; age 6 years and older) or evaluated by growth curves for those subjects below the age of 6 years. Categories of nourishment were: (1) undernourished, (2) normal range, (3) overweight, (4) obese, and (5) morbidly obese. Findings of the study include a significant difference in nutritional status between children with and without disabilities in the study, with a bimodal presentation of children with disabilities who

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were more likely to be either undernourished or obese. Risk factors for obesity included increasing age in the subject and living with a grandparent. Children with developmental disabilities were found to be obese at a rate twice that for nondisabled peers. Children with CP were less than half as likely to be obese than were nondisabled peers. While overnutrition is a problem for youth with and without disabilities in this region of Chile, youth with disabilities were more likely to be either over- or undernourished compared to peers without disabilities. Programs to increase physical activity levels and improve nutrition are needed in this isolated part of the world.

17.2.1.4 Hurvitz et al. (2008): BMI Measures in Children with CP Related to Gross Motor Function Classification: A Clinic-Based Study A retrospective chart review was conducted to collect height/weight data in a pediatric rehabilitation clinic. Subjects were a census of all patients between the ages of 2 and 18 years who presented at the clinic during a 3-month period. Data were collected on age, gender, height, weight, and use of seizure medications, which can affect bone density and therefore weight, feeding method, and functional information as recorded in their clinic notes. For patients who were able to stand, height was measured with a standard height rod. In patients who were not able to stand, height was measured using a tape measure with the patient lying on an examination table. The Centers on Disease Prevention and Control-published (CDC) BMI tables were utilized to categorize subjects as: (1) underweight (< 5th percentile), (2) normal (5th–85th percentile), (3) at risk for overweight (86th–95th percentile), or (4) overweight (> 95th percentile). Results of the prevalence study were 18.2% of subjects who met the criteria for overweight and 10.9% of subjects who were at risk for overweight for a total of 29.1% of subjects with BMI above the CDC-published range for normal BMI. Ambulatory subjects showed a significantly higher prevalence of overweight compared to nonambulatory subjects across the genders and ages. Underweight was most prevalent among

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nonambulatory subjects. There was no significant difference found between subjects who were fed by gastronomy tube and those who were not. Future studies should address four issues related to this problem: (1) identification of an accurate measurement of body composition among this population; (2) clearly stated medical consequences for overweight among those with CP; (3) causal factors for overweight; and (4) the relationship between level of physical activity and obesity in CP populations, along with protocols for increase access to exercise for people with CP.

17.2.1.5 Patradoon-Ho et al. (2005): Obesity in Children and Adolescents with Acquired Brain Injury This Australian study sought to measure the prevalence of obesity among children and adolescents with Acquired Brain Injury (ABI). A cross-sectional study of 88 subjects between the ages of 2.4 and 17.7 years who attended the Brain Injury Clinic at a tertiary pediatric hospital was undertaken. The prevalence of obesity in the population was found to be 15%, which is higher than among children and adolescents in Australia without disability, as was the prevalence of overweight found to be 19.3%. A linear trend for higher BMI with increasing levels of mobility was observed, although it was not statistically significant. 17.2.1.6 Jones and Lollar (2008): Relationship Between Physical Disabilities or Long-Term Health Problems and Health Risk Behaviors or Conditions Among US High School Students The aim of this study was to explore the relationship between a self-report of physical disability and health risk behavior among randomly selected 13,917 adolescent respondents in grades 9–12. Data weighted for proportions of students in each subject category (race, gender, and grade) obtained from the Centers on Disease Prevention and Control Youth Risk Behavior Survey (YRBS) were analyzed to determine prevalence


of six categories of priority health risk behaviors, including: unintentional injury and violence, tobacco use, alcohol and other drug use, sexual behaviors that contribute to unintended pregnancy and sexually transmitted diseases, unhealthy dietary behaviors, and physical inactivity. Overall, about half of the respondents were female, 62% were white, 15% were black, and 15% were Hispanic, and one respondent in ten (10.3%) reported having a physical disability. Results of the study demonstrated that adolescents with disabilities or chronic illness were as likely or more likely to engage in health risk behaviors. Almost twice as many students with physical disabilities or chronic conditions reported that they felt sad or hopeless almost every day for 2 weeks or longer, and that they stopped doing some of their activities due to these feelings. Twice as many respondents with disabilities or chronic conditions reported seriously considering suicide during the 12 months preceding the survey and they were almost three times as likely to report having previously attempted suicide. The findings of this study indicate the need for programs and services to prevent and treat mental and emotional distress.

17.2.1.7 Bandini et al. (2005): Prevalence of Overweight in Children with Developmental Disorders in the Continuous National Health and Nutrition Examination Survey The University of Massachusetts Medical School, Eunice Kennedy Shriver Center at Boston University, The Friedman School of Nutrition, Science and Policy at Tufts University, and The Department of Public Health and Family Medicine at Tufts University School of Medicine used data derived from the National Health and Nutrition Examination Survey (NHANES) of 1999–2002 to estimate the prevalence of overweight in children with developmental disorders. In the basic protocol, randomly selected subjects are interviewed in their own homes and body weight/ height data are collected at a mobile examination center. Children who are not able to stand are not measured. Children with developmental disabilities are identified through a set of four questions.

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The age limit established for analysis in this study was limited to those children between ages 6 and 14.9 years whose interviews were positive for diagnosis of any developmental disability. BMI was calculated using the tables and terminology published by Centers on Disease Control and Prevention. In the 1999–2002 dataset, four questions identified 1,128 subjects between the ages of 6 and 14.9 years. Of these, 654 (57.9%) had either a physical limitation, attention-deficit disorder, learning disability, or received Special Education or Early Intervention services. Of the 1,128 subjects in this study, 327 (28.9%) met two of the criteria, 133 (11.8%) met three of the conditions, and 14 subjects (1.2%) met all four of the conditions. Study limitations include incomplete data collection methods, which failed to report a number of potential subjects since height/weight data were unavailable. In addition, it is not known how many subjects with developmental disabilities might have participated in the survey due to random selection, but declined. Despite these limitations of the study, findings provided interesting data that will lead to narrowing the research questions for future studies. Specifically, when stratified by gender and age group, a significantly lower prevalence of overweight was observed in boys aged 9–14 years than in girls. Boys with attention-deficit hyperactivity disorder (ADHD) of this age were significantly less likely to be overweight than were boys of the same age without ADHD. In contrast, girls with ADHD did not differ from other girls in prevalence of overweight or “at risk” categories. Both boys and girls with learning disabilities (LD) had a higher prevalence for both “at risk for overweight” and overweight than did children without LD. Further studies may well address the role played by levels of physical activity and weight; and to establish validity for the BMI calculation on children with physical disabilities. The study also recommends that since children with developmental disabilities appear to share the same risk of developing secondary health conditions as a result of overweight as are their peers without developmental disabilities, educational and healthcare providers should develop health promotion efforts specifically for this population.

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17.2.1.8 Curtin et al. (2005): Prevalence of Overweight in Children and Adolescents with ADHD and Autism Spectrum Disorders: A Chart Review The Eunice Kennedy Shriver Center at the University of Massachusetts Medical School, the Division of Developmental-Behavioral Pediatrics at Tufts-New England Medical Center and the Department of Public Health and Family Medicine conducted a retrospective chart review to determine the prevalence of overweight among children diagnosed with ADHD and Autism Spectrum Disorders. Selection for inclusion in the study occurred by a systematic review of every fifth chart, in alphabetical order, from among the files available in the Tufts-New England Medical Center clinic, limited to the files of children who were seen between the years of 2002 and 2003. Only charts that contained a diagnosis of ADHD or Autism Spectrum Disorder and which also contained complete information on height, weight, and age were admitted to the study. A total of 140 charts met conditions for entry to the study. Of the 140 charts studied, 98 charts provided documentation on children who had a diagnosis of ADHD and 42 charts contained information on children with Autism Spectrum Disorder. The BMI was calculated from measurements of the child’s height and weight at the first office visit and compared to the Center on Disease Control’s BMI growth reference chart to the nearest month of age. The definition for “at risk for overweight” was a BMI for age at the 85th percentile, whereas the definition “overweight” was given to those children whose BMI was at the 95th percentile. Results of the study were that 29% of children with ADHD were “at risk for overweight” while 17.3% were overweight. Among children with Autism Spectrum Disorder, 35.7% of children were found to be “at risk for overweight” while 19% of children with this diagnosis were overweight. Children taking stimulant medication were only half as likely to be overweight as those not taking medications. None of the children taking stimulant medications were underweight, although some 16% of the children not taking

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stimulants fell into that category. The authors recommend follow-up studies address the potential burden of managing potential comorbidities associated with obesity that may be specific to the population of children with developmental disabilities.

17.2.1.9 De et al. (2008): Overweight and Obesity Among Children with Developmental Disabilities In order to determine the prevalence of overweight and obesity in children with developmental disabilities attending an Australian metropolitan Diagnosis and Assessment Service, a retrospective chart review was conducted for 98 children (67 male) aged 2–18 years. Reviewers compiled data on age, sex, weight, height, and severity of intellectual disability (ID) or global developmental delay from the standard medical records. Using the clinical chart data, BMI, weight/ height2 was calculated, and overweight and obesity defined using standard international criteria. The findings indicated that 24% of the children were overweight and a further 15% were obese (i.e., a total of 40% either overweight or obese), which is significantly higher than the prevalence rate for Australian school children in the New South Wales Schools Physical Activity and Nutrition Survey (SPANS) 2004, which found that 17% were overweight ( p = 0.05) and 6% were obese ( p = 0.0003) (i.e., 23% either overweight or obese, p = 0.0001). The study supported earlier reports that prevalence of overweight and obesity is higher among children with developmental disabilities than in the general population. The results highlight a need for larger studies of the population that can be utilized to develop early identification and management of excess weight gain for this group. 17.2.1.10 Luke et al. (1996): Nutrient Intake and Obesity in Prepubescent Children with Down Syndrome This study was conducted in the Clinical Research Center at the University of Chicago Medical Center. The research study was to create a


baseline of nutrient intake and body composition in prepubescent children with a diagnosis of Down syndrome with the goal of learning how dietary barriers may be involved in the prevention and treatment of obesity among children with Down syndrome. Subjects were 10 children between the ages of 5 and 11 years, recruited at the University of Chicago Wyler Children’s Hospital, LaRabia Children’s Hospital, and through the National Associate for Down syndrome. The children in the study were matched with 10 similar children without the diagnosis of Down syndrome. Methodology of the study centered on a series of 3-day diet records and collection of urine samples for all 20 subjects. Energy intake was compared with energy expenditure as measured by the “doubly labeled water method.” In this method, an oral dose of O- and deuterium-labeled water was given to the subjects and parents collected the first urine of the day twice during the 14-day period. After all data were turned in by the subjects, nutrient intakes were compared with the Recommended Dietary Allowances to estimate risk for nutrient deficiency. Fat-free mass values were analyzed by bioelectrical impedance and measures of skin-fold thicknesses were compared with values determined via the deuterium dilution method. Results were that subjects with Down syndrome diagnoses were significantly shorter in height than were controls; however, body composition was not found to differ between the two groups. According to the analysis of the diet records kept by subjects’ parents during the study, energy intake was lower in the subjects who had a diagnosis of Down syndrome. Unexpectedly, it was found that nonobese subjects with Down syndrome tended to consume too few (< 80% of the recommended amount) of specific micronutrients. Study outcomes lead to a recommendation that to avoid lowering already inadequate intakes of several vitamins and minerals, treatment of obesity in children with Down syndrome should combine a balanced diet without energy restriction, with supplementation of vitamin and minerals and increased levels of physical activity.

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17.2.1.11 Maïano (2011): Prevalence and Risk Factors of Overweight and Obesity Among Children and Adolescents with Intellectual Disabilities This literature review sought to identify prevalence and risk factors for overweight among children with Intellectual Disabilities (ID). Ten studies providing original data on this topic were included for review. Outcomes were sought on prevalence and on eight additional parameters of interest: (1) Gender, (2) Age, (3) Severity of ID, (4) Genetic syndromes, (5) Medication use, (6) Type of disability, (7) Socioeconomic status, and (8) Ethnicity. All studies examined the prevalence of obesity among young persons with a diagnosis of ID. Overall, between studies the prevalence ranged from 7 to 36%. The association between gender and obesity among children with ID was inconclusive; for Age and obesity; findings revealed significant increases in rate of obesity with increasing age through childhood and into adolescence; for Severity of disability and obesity findings were not significant; for Genetic syndromes and obesity, the associations were inconclusive; for Medication use and obesity, the findings were inconclusive; for Type of disability the associations were not significant; for socioeconomic status no significant relationship was identified; and for Ethnicity there was no significant association. While published studies reveal significant secondary health problems related to obesity, findings remain preliminary and highlight the need for future research in this area. 17.2.1.12 Stewart (2009): High Prevalence of Obesity in Ambulatory Children and Adolescents with ID The study was designed to estimate obesity prevalence in ambulatory children and adolescents with ID. A survey of nine schools for children and adolescents with mild-to-moderate ID was conducted in Scotland. The number of children served in the nine schools was 206, with 150 (73% male). Obesity was defined as a BMI of

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95% or greater relative to the UK reference data. Obesity prevalence among the 206 students was 36%, and was significantly higher among students attending secondary schools compared to primary schools. The prevalence for obesity was significantly higher for children with ID compared to peers without ID. This local study supports the findings of previous and larger studies that recommend greater emphasis on surveillance of obesity in children and adolescents.

17.2.1.13 Lin et al. (2010a): Spinal and Limb Abnormalities in Adolescents with Intellectual Disabilities This study from Taiwan was designed to identify prevalence of overweight and spinal or limb abnormalities in adolescents aged 15–18 years with intellectual disabilities. A total of 822 youth with ID were given health exams as they enrolled into Special Education schools. Results were that 14.5% of enrollees had spinal abnormalities and 8.5% had limb abnormalities. Gender, disability level, and spinal abnormalities were found to statistically correlate to presence of limb abnormality and higher BMI. 17.2.1.14 Lin et al. (2010b): Hypertension, Hyperglycemia, and Hyperlipidemia Among Adolescents with Intellectual Disabilities Another Taiwanese study assessed the prevalence of hypertension, hyperglycemia, and hyperlipidemia in adolescents with ID in three Special Education schools in Taiwan. Results of a cross-sectional medical chart review of 856 students revealed that 11.7% of the cases had a diagnosis of hypertension. Biochemical analysis results showed that elevated or abnormal rates of triglyceride (9.1%), total cholesterol (1.1%), and fasting plasma glucose (0.3%) were identified, the first two of which were significantly higher than prevalence in the general population of same-age youth. Body Mass significantly correlated with hypertension and elevated triglyceride findings.

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17.2.1.15 Frey and Chow (2006): Relationship Between BMI, Physical Fitness, and Motor Skills in Youth with Mild Intellectual Disabilities Researchers investigated the prevalence of overweight and obesity among youth with ID, by recruiting a stratified sample of 444 youths with Mild ID aged 6–18 years from eight special education schools in Hong Kong to document whether youth with Mild ID differ in any important ways from the general population of youth with ID. Physical fitness was assessed using items from the national Hong Kong fitness assessments for either ages 6–8 years or for those 9–18 years of age. Youth were assessed for a 1-minute run, sit-ups, isometric push-ups, sit and reach, and sum of skinfold. Functional motor skills were further assessed in 244 youths from this sample using the Test of Gross Motor Development–II. International cut-off points were utilized to identify those who were overweight or obese. Findings were an identification of 2% of the population as overweight/obese. However, overweight/obesity was minimally associated with aerobic fitness and muscular strength in youth with Mild ID. BMI range was not found to impact other fitness measures such as sit-up, sit and reach, or motor skills in this sample.

17.2.2 Obesity-Related Secondary Conditions in Youth with Disabilities In addition to the articles focusing on obesity prevalence and measurement among youth with disabilities, another tier of articles was identified through the selective review process that focused on obesity-related secondary conditions in youth with disabilities. Those articles are discussed here and are also referenced in Table 17.1.

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17.2.2.1 Yamaki et al. (2011): Prevalence of Obesity-Related Chronic Health Conditions in Overweight Adolescents with Disabilities This 32-item web-hosted survey included a total of 32 items in the following categories: (1) eight items related to the environmental (traffic, crime, availability of accessible fitness centers, and food in the home), (2) two items related to participation (use of leisure time), (3) four items related to health consequences of obesity, and (4) 18 items derived from national- and statelevel health surveys. A convenience sample of 643 family members of adolescents residing in 48 states was obtained. Respondents provided the demographic information on the adolescent with disability, including height and weight, which were used to compute BMI for comparison between groups during analysis. Findings of this study provide additional support to published reports indicating that overweight adolescents with disabilities are at a higher risk for developing obesity-related chronic health conditions compared with healthy-weight counterparts. Specifically, asthma was reported at higher prevalence for same-age peers in the general population, and presence of asthma was greater for overweight youth with disabilities than for youth of healthy weight with disabilities. The overweight adolescents in the study also exhibited higher rates of diabetes than those of healthy weight. There was also a higher prevalence of depression and low self-esteem found among the overweight adolescents in both the mobility and nonmobility groups of respondents. These findings support previously published national prevalence figures of obesity among adolescents, and underscore the published health risks that excessive body weight imposes on already vulnerable young people.

17.2.2.2 Rimmer et al. (2010): Obesity and Obesity-Related Secondary Conditions in Adolescents with Intellectual/Developmental Disabilities Since children and adolescents with diagnoses of disabilities are known to have a higher prevalence of overweight compared to peers without disabilities, their future health depends upon the prevention of development of secondary conditions. The health risks chiefly come from the types of secondary conditions that develop due to obesity, such as fatigue, pain, deconditioning, social isolation, difficulty performing activities of daily living, as well as serious conditions in cardiovascular health. The challenge to health professionals and researchers is to find and disseminate innovative ways to reduce and prevent obesity among young people with disabilities. Since it is known that lifestyle habits are developed during the adolescent stage of life, this short time period may be the last window of opportunity to create a personal commitment to a healthy lifestyle among adolescents with disabilities. Clearly, there is a lack of knowledge in the healthcare and service community on what would constitute an effective intervention for weight management for this population. The new strategies must be cost-effective, culturally and functionally relevant, as well as attractive to youth. Since obesity is most likely the result of a complex interaction of conditions, both personal and environmental (such as genetics, diet, knowledge, physical activity level, medication history, neighborhood, fitness center, and programmatic access) the resulting plan to alleviate obesity must be adequately complex and address all contributing factors.

17.2.3 Other Secondary Conditions in Youth with Disabilities Although most of the recent research identified from the selective review focused on obesity and obesity-related secondary conditions, there are a few additional articles that identified other types

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of secondary conditions in youth with disabilities. Those articles are described here and are also referenced in Table 17.1.

17.2.3.1 Decouflé and Autry (2002): Increased Mortality in Children and Adolescents with Developmental Disabilities A population-based cohort of 10-year-old Atlanta children with diagnoses of mental retardation, CP, epilepsy, hearing impairment, or vision impairment were followed up in 2010 for mortality and cause of death between the ages of 10 and 20 years, for comparison to deaths among the same-age population in the United States. The objective was to quantify the magnitude of previously reported “increased mortality” among the group with disabilities and to evaluate the contribution of specific disabilities to mortality among children and adolescents with one or more of five developmental disabilities. A total of 30 deaths among the cohort with developmental disabilities, yielding an observed to expected mortality ratio of almost 3 to 1. Ratios were statistically significant in children with three or more coexisting disabilities and the severity of the disability. An exception to this pattern was an increased mortality among children with cardiovascular disease. The primary cause of death among the developmental disability (DD) population was infection, asthma, and seizure, rather than injury, accident, and poisonings, which were the primary cause of death for nondisabled persons of the same age in the general population. 17.2.3.2 Ko et al. (2006): Risk Factors of Long-Bone Fracture in Nonambulatory CP Children Fracture of the long bone is a common problem (prevalence rate of 20%) among nonambulatory children with a diagnosis of CP. It has variously been suggested that fracture is related to a number of contributing causes, including low weight, low nutrition due to slow oral feeding, immobilization, low musculoskeletal status caused by lack of weight-bearing exercise, medications to

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control seizures, and poor pulmonary condition including the need for mechanical ventilation and/or reoccurring chest infection. In this study at a residential unit for children with CP and ID in Hong Kong, 200 subjects (study group n = 19, 60% male, mean age 10 years) were evaluated for bone fracture. A control group ( n = 90, 50% male, mean age 10 years) comprised children who had CP and resided in the same institution, but who did not have a history of long-bone fracture. Support was provided for a complex causality involving a number of contributing causes including low weight, low nutrition due to slow oral feeding, immobilization, low musculoskeletal status caused by lack of weight-bearing exercise, medications to control seizures, and poor pulmonary condition including the need for mechanical ventilation and/or reoccurring chest infection. The authors concluded that early intervention targeting these established risk factors may reduce fracture risk among nonambulatory children with CP.

17.2.3.3 Murphy et al. (2006): Costs and Complications of Hospitalizations for Children with CP This study comprises a statistical analysis of the Healthcare Utilization Project Kid Inpatient Database, a weighted survey of pediatric discharges from US hospitals in 1997. In particular, the 37,000 children with CP who were hospitalized during 1997 were studied for costs and complications. The cost of the hospitalizations for children with CP was around US$ 600 million in 1997 dollar values. Children with CP stayed longer than other children (average of 6.3 days vs. 4.1 days in the general population ( p < 0.001), they had higher total charges (US$ 16,024 vs. US$ 9,952, p, 0.001) more diagnoses (5.6 vs. 3, p, 0.001), and more procedures per admission compared to peers (1.7 vs. 1.1, p, 0.001). In addition to longer stays and more expenses per hospital stay, children with CP were more likely to be transferred to other facilities upon discharge or were prescribed home health care than were other children of their ages. Respiratory needs for children with CP were the lead-


ing cause of hospitalization for this group, followed by poor nutritional status. It is the opinion of the authors that if physicians and other clinical staff would routinely monitor children with CP for nutritional, respiratory, and neuromuscular system status that timely interventions provided to children with CP in the community would reduce complications, secondary conditions, and reduce hospitalizations for this group of patients.

17.2.3.4 Stevenson et al. (2006): Fracture Rate in Children with CP The goal of this study was to determine the prevalence of fracture among children with CP. Of interest was the presence of previous fracture, rate of fracture over time, and associated risk factors for fracture in children with moderate or severe CP. The study sample was a census of 364 children already enrolled in a multicenter regional longitudinal study of growth, nutrition, and health. Of these subjects, the average age was 9.3 years. Males comprised 60% of the study sample, and most of the subjects (71%) were Caucasian. The severity of impairment according to the Gross Motor Function Classification System (GMFCS) included 19% classified as level III, 28% classified as level IV, and 53% classified as level V. Of the subjects with at least one previous fracture 46 children, 35 (76%) reported one fracture; 6 (13%) reported two fractures; and 5 (19%) reported three previous fractures. Neither severity of the level of CP or gender was associated with the number of fractures. However, age was significantly associated with fracture with the history of prior fracture being higher in older children. Children with a history of fracture also appeared to have less muscle mass as measured by mid-arm muscle area. Children with greater body fat, feeding gastrostomy, and prior history of fracture were at highest risk for additional fracture and may benefit the most from intervention. It is recommended that longitudinal study and clinical trials be developed to bring about a more thorough understanding of the factors contributing to fracture.

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17.2.3.5 Swiggum et al. (2001): Pain in Children with CP: Implications for Pediatric Physical Therapy This literature review documents that pain is a daily occurrence for many children with a diagnosis of CP, and explores some of the promising tools for evaluating and responding to reports of pain by children in this population. Well-known contributors to pain are surgical and procedural techniques, gastrointestinal, orthopedic and neuromuscular pain, and pain caused by therapies during rehabilitation exercises and treatments. There are a number of categories of pain assessment tools, including the “self-report of pain,” “physiological pain,” “behavioral pain,” and “distress” measures. Management techniques are also divided into cognitive-behavioral methods and social environmental interventions. The outcome of this review is emerging evidence and support for psychosocial pain management techniques. 17.2.3.6 Simeonsson et al. (2002): Secondary Conditions in Children with Disabilities: Spina Bifida as a Case Example While a disability is a primary condition that is usually regarded as a manifestation of an underlying disease, condition or injury, it is well known that over time conditions can develop that occur as a complication or a sequel of the original disability. Secondary conditions have four criteria: (1) they are the direct or indirect consequence of an underlying primary condition, (2) they reflect the effect of a person-environment interaction for which the primary condition was a risk factor, (3) the nature and extent of the expressed secondary condition is related to factors such as the age or developmental stage of the individual, and (4) the mediating role of the individual’s personal traits and characteristics played a role in the development of the secondary condition. The four criteria listed above constitute a paradigm shift in the framework of disability, once limited to a simple medically based definition. In the new paradigm, the specific manifestations of secondary conditions are varied, but the underlying process is consistent with the new International

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Classification of Functioning model in which a condition is not seen as “disabling” but is defined more concretely by the needs it presents for accommodations to remove barriers to full participation. The significance of secondary conditions in this model is that they are preventable. The key is to identify the mechanisms, which are associated with their development and to create effective preventative measures before they develop.

17.3 Importance of Secondary Condition Prevention Secondary conditions can have a significant impact on the health and independence of youth with disabilities, particularly as they transition to adulthood. Therefore, the importance of health promotion to reduce the risk of developing secondary conditions is paramount. Specifically, obesity and obesity-related secondary conditions need to be addressed at an early age to instill healthy behaviors and to reduce the risk for secondary conditions later in life for these youth. The Surgeon General’s Report on the Health and Wellness of People with Disabilities (U.S. Department of Health and Human Services 2005) highlights the importance of increasing health self-management for people with disabilities. Systematically identifying antecedents that lead to higher levels of obesity among youth with disabilities is one way to reduce the obesity risk among this population. These antecedents may differ among disability groups, thereby making the customization of health promotion efforts a critical element in determining policy and program effectiveness. For example, for some youth, personal factors such as low physical activity levels, intake of weight-gaining medications (i.e., corticosteroids), and poor diet or nutritional knowledge may increase the likelihood of becoming obese. For others, environmental factors such as unsafe neighborhoods, lack of access to accessible recreation facilities, or the lack of affordable transportation may be key factors in obesity development (Rimmer et al. 2007).

J. L. Rowland

17.4 Summary Health promotion to reduce and prevent secondary conditions is clearly an important part of initiating and sustaining healthy lifestyles and promoting independence among youth with disabilities, especially as they transition to adulthood. Within this chapter, the variability in secondary condition definitions has been explored and a selective review of peer-reviewed literature has focused on obesity, obesity-related secondary conditions, and other secondary conditions such as pain among youth with different types of disabling conditions. When evaluating ways in which secondary condition prevention efforts may improve quality of life for youth with disabilities, one important consideration is to customize health promotion programs based on an individual’s needs. Additional research on the dosing effects of health promotion programs such as exercise and nutrition interventions would be better able to focus on specific benefits if secondary condition definitions could be operationalized.

References Bandini, L. G., Curtin, C., Hamad, C., Tybor, D. J. & Must, A. (2005). Prevalence of overweight in children with developmental disorders in the continuous national health and nutrition examination survey (NHANES) 1999–2002. The Journal of Pediatrics, 46(6), 738–743. Curtin, C., Bandini L. G., Perrin E. C., Tybor D. J. & Must A. (2005). Prevalence of overweight in children and adolescents with attention deficit hyperactivity disorder and autism spectrum disorders: A chart review. BMC Pediatrics, 5, 48. De, S., Small, J., & Baur, L. A. (2008). Overweight and obesity among children with developmental disabilities. Journal of Intellectual & Developmental Disability, 33(1), 43–47. Decouflé, P., & Autry, A. (2002). Increased mortality in children and adolescents with developmental disabilities. Paediatric and Perinatal Epidemiology, 16(4), 375–382. Frey, G. C., & Chow, B. (2006). Relationship between BMI, physical fitness, and motor skills in youth with mild intellectual disabilities. International Journal of Obesity (London), 30(5), 861–867. Hurvitz, E. A., Green, L. B., Hornyak, J. E., Khurana, S. R., & Koch, L. G. (2008). Body mass index measures

17 Secondary Conditions in Youth with Disabilities in children with cerebral palsy related to gross motor function classification: A clinic-based study. American Journal of Physical Medicine & Rehabilitation/ Association of Academic Physiatrists, 87(5), 395–403. Institute of Medicine (2007). The future of disability in America. Washington: The National Academies Press. Jones, S. E., & Lollar, D. (2008). Relationship between physical disabilities or long-term health problems and health risk behaviors or conditions among US high school students. The Journal of School Health, 78(5), 252–257. Ko, C. H., Tse, P. W., & Chan, A. K. (2006). Risk factors of long bone fracture in non-ambulatory cerebral palsy children. Hong Kong Medical Journal, 12(6), 426–431. Lin, J. D., Lin, P. Y., Lin, L. P., Lai, C. I., Leu, Y. R., Yen, C. F., Hsu, S. W., Chu, C. M., Wu, C. L., & Chu, C. M. (2010a). Spinal and limb abnormalities in adolescents with intellectual disabilities. Research in Developmental Disabilities, 31(3), 686–91. Lin, P. Y., Lin, L. P., & Lin, J. D. (2010b). Hypertension, hyperglycemia, and hyperlipemia among adolescents with intellectual disabilities. Research in Developmental Disabilities, 31(2), 545–550. Luke A., Sutton M., Schoeller D. A., & Roizen N. J. (1996). Nutrient intake and obesity in prepubescent children with Down syndrome. Journal of American Dietetic Association, 96(12), 1262–1267. Maïano, C. (2011). Prevalence and risk factors of overweight and obesity among children and adolescents with intellectual disabilities. Obesity Reviews: An Official Journal of the International Association for the Study of Obesity, 12(3), 189–197. Marge, M. (1988). Health promotion for persons with disabilities: Moving beyond rehabilitation. American Journal of Health Promotion, 2, 29–44. Murphy, N. A., Hoff, C., Jorgensen, T., Norlin, C., & Young, P. C. (2006). Costs and complications of hospitalizations for children with cerebral palsy. Pediatric Rehabilitation, 9(1), 47–52. Patradoon-Ho, P., Scheinberg, A., & Baur, L. A. (2005). Obesity in children and adolescents with acquired brain injury. Pediatric Rehabilitation, 8(4), 303–308. Pope, A. M. (1992). Preventing secondary conditions. Mental Retardation, 30, 347–354. Reinehr, T., Dobe, M., Winkel, K., Schaefer, A., & Hoffmann, D. (2010). Obesity in disabled children and adolescents: An overlooked group of patients. Deutsches Ärzteblatt International, 107(15), 268–275. Rimmer, J. H., & Rowland, J. L. (2008). Physical activity for youth with disabilities: A critical need in an underserved population. Development of Neurorehabilitation, 11, 141–148. Rimmer, J. H., Rowland, J. L., & Yamaki, K. (2007). Obesity and secondary conditions in adolescents with

351 disabilities: Addressing the needs of an underserved population. The Journal of Adolescent Health: Official Publication of the Society for Adolescent Medicine, 41(3), 224–229. Rimmer, J. H., Yamaki, K., Lowry, B. M., Wang, E., & Vogel, L. C. (2010). Obesity and obesity-related secondary conditions in adolescents with intellectual/ developmental disabilities. Journal of Intellectual Disability Research, 54(9), 787–794. Simeonsson, R. J., McMillen, J. S., & Huntington, G. S. (2002). Secondary conditions in children with disabilities: Spina bifida as a case example. Mental Retardation and Developmental Disabilities Research Reviews, 8(3), 198–205. Stevenson, R. D., Conaway, M., Barrington, J. W., Cuthill, S. L., Worley, G., & Henderson, R. C. (2006). Fracture rate in children with cerebral palsy. Development of Neurorehabilitation, 9(4), 396–403. Stewart, L., Van De Ven, L., Katsarou, V., Rentziou, E., Doran, M., Jackson P. et al. (2009) High prevalence of obesity in ambulatory children and adolescents with intellectual disability. Journal of Intellectual Disability Research, 53(10), 882–886. Swiggum, M., Hamilton, M. L., Gleeson, P., & Roddey, T. (2001). Pain in children with cerebral palsy: Implications for pediatric physical therapy. Pediatric physical therapy: The official publication of the section on pediatrics of the American Physical Therapy Association, 22(1), 86–92. Turk, M. A. (2006). Secondary conditions and disability. In M. J. Field, A. M. Jette, & L. Martin (Eds.), Workshop on disability in America: A new look (pp. 185– 193). Washington: The National Academies Press. U.S. Department of Health and Human Services (2000). Healthy People 2010: Understanding and improving health (2nd ed.). Washington: U.S. Government Printing Office. U.S. Department of Health and Human Services (2005). The Surgeon General’s call to action to improve the health and wellness of persons with disabilities. Washington: U.S. Department of Health and Human Services. Vélez, J. C., Fitzpatrick, A. L., Barbosa, C. I., Díaz, M., Urzua, M., & Andrade, A. H. (2008). Nutritional status and obesity in children and young adults with disabilities in Punta Arenas, Patagonia, Chile. International Journal of Rehabilitation Research. Internationale Zeitschrift fur Rehabilitationsforschung. Revue internationale de recherches de readaptation, 31(4), 305–313. Yamaki, K., Rimmer, J. H., Lowry, B. D., & Vogel, L. C. (2011). Prevalence of obesity-related chronic health conditions in overweight adolescents with disabilities. Research in Developmental Disabilities, 32(1), 280–288.

Accessible Substance Abuse Prevention for All Children

18

Jo Ann Ford, Judson Workman, Navid Masoudi, Mary Huber, Theresa Mayer, and Karel Pancocha

Abstract

Even though moderate declines in the use of alcohol, tobacco, and other drugs (ATOD) among adolescents have been seen over the years, the battle to prevent youth from using ATOD is still a focus for educators and researchers. The primary means of preventing ATOD is still through educational settings and school-based programs. However, the effectiveness of prevention efforts is substantially enhanced when the entire community is involved. Children with disabilities or children who have nontraditional learning styles are still not receiving prevention geared specifically toward their personal needs. This is despite research indicating that the presence of a physical, mental, or psychological disability places an individual at increased risk for substance abuse problems. This chapter outlines risk factors experienced by children with disabilities, community and psychosocial approaches to effective school-based intervention programs, and concludes with a discussion of the Prevention through Alternative Learning Styles (PALS) program that has shown much success since it was developed in 1992. Abbreviations

AOD Alcohol and other drugs ATOD Alcohol, tobacco, and other drugs NELS National Education Longitudinal Study J. A. Ford () · J. Workman · N. Masoudi · T. Mayer Boonshoft School of Medicine, Wright State University, PO Box 927, Dayton, OH 45410-0927, USA e-mail: [email protected] M. Huber The National Center on Family Homelessness, 200 Reservoir Street, Suite 200, Needham, MA 02494, USA e-mail: [email protected] K. Pancocha Masaryk University, Czech Republic, Europe D. Hollar (ed.), Handbook of Children with Special Health Care Needs, DOI 10.1007/978-1-4614-2335-5_18, © Springer Science+Business Media New York 2012

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NIDA National Institute on Drug Abuse PALS Prevention through Alternative Learning Styles VARK Visual, auditory, reading, and kinesthetic (model; Fleming 2001)

18.1 Introduction Even though moderate declines in the use of alcohol, tobacco, and other drugs (ATOD) among adolescents have been seen over the years, the battle to prevent youth from using ATOD is still a focus for educators and researchers (Brounstein et al. 2006; NIDA 2008; Pentz 2003; Tobler et al. 2000). Years of research have helped identify the underlying characteristics of effective prevention programs, yet some children still do not receive adequate prevention messages (Tobler et al. 2000). Some reasons for this include the presence of a disability, difficulties managing peer pressure, or the unaddressed need for nontraditional learning methods (Kessler and Klein 1995). Over the past 20 years, prevention efforts have succeeded in subsequently reducing the incidence and prevalence of ATOD use among youth, as well as increasing their knowledge about the dangers of ATOD and decreasing their intentions to use these substances in the future (Botvin et al. 2003; Fergus and Zimmerman 2005; Gottfredson and Wilson 2003; Pentz 2003; Tobler et al. 2000; Zollinger et al. 2003). For example, results from the national Monitoring the Future study revealed declines in the use of illicit drugs and alcohol among 8th, 10th, and 12th graders after participating in prevention programs. The proportion of students who admitted any illicit drug use dropped by approximately one-third, one-quarter, and one-eighth for the 8th, 10th, and 12th grades, respectively. Many of the successful intervention efforts include school-based drug prevention programs (Eisen et al. 2003; Ellickson et al. 2005; Longshore et al. 2006). Substance abuse prevention is a systematic and comprehensive approach toward reducing

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risks for alcohol or other drug problems. Research has shown that prevention efforts focused on reducing students’ risks while increasing their protective factors—building on their strengths and teaching them life skills—can help them to develop into healthy, productive adults (ClintonSherrod et al. 2005; Eisen et al. 2003; Gottfredson and Wilson 2003; Zollinger et al. 2003). The current trend in substance abuse prevention is a multimodal approach consisting of a variety of strategies. The primary means of preventing ATOD use is still through educational settings and school-based programs. However, the effectiveness of prevention efforts is substantially enhanced when the entire community is involved (Arthur and Blitz 2000; Smith et al. 1995; Werch et al. 2003). Family members, school personnel, political leaders, business, the media, cultural organizations, and other community groups all have important roles to play and collaborative efforts increase the effectiveness of prevention programming (LoSciuto et al. 1996; Martino et al. 2006; Slater et al. 2006). By working together, these groups can establish clear and consistent messages about ATOD use and create a web of support for youth (Arthur and Blitz 2000; Ellickson et al. 2005). The goals of most prevention programs include, but are not limited to, the following: (1) promoting abstinence by choice, (2) increasing knowledge about ATOD, (3) promoting healthy lifestyles, (4) decreasing risk factors by enhancing protective factors, (5) delaying the onset of ATOD use, and (6) decreasing high risk use such as binge drinking. Yet, as Tobler et al. (2000) have pointed out, there will always be a subset of children who do not benefit from prevention programs for various reasons such as a program’s use of traditional teaching methods that do not accommodate different learning styles, students’ inability to handle peer pressure, or students’ lack of caring parental/adult support. Over the last 20 years, the National Institute on Drug Abuse (NIDA) has conducted numerous scientific investigations to help uncover the principles that are essential for substance abuse prevention programs. The intent of NIDA’s research is to help communities in their efforts to prevent

18 Accessible Substance Abuse Prevention for All Children

ATOD abuse before its onset, and with more focused research, communities can more easily adapt programs that are effective with similar populations (Table 18.1). Even with the evidence that prevention efforts have had some success in reducing substance use, ATOD use by children and adolescents continues to be a great concern in our communities (Brounstein et al. 2006; NIDA 2008). Efforts have been made to provide prevention services to all youth with an emphasis placed on youth described as high risk or youth from traditionally underserved segments of the population. These efforts have been helpful to many youth; however, children with disabilities or children who have nontraditional learning styles are still not receiving prevention geared specifically toward their personal needs. This is despite research indicating that the presence of a physical, mental, or psychological disability places an individual at increased risk for substance abuse problems (Compton et al. 2007; Hasin et al. 2007; Grant et al. 2008; Nation and Helflinger 2006).

18.2 Why Prevention Has Not Always Worked with Youth with Disabilities? Often children with disabilities or children who have difficulty in school are overlooked for prevention efforts. This may occur because professionals do not feel that they have the expertise to provide prevention education. More often, children with disabilities are not considered to be at risk for ATOD use or abuse. In addition, many materials are not culturally or otherwise accessible to youth with disabilities. Movies, written materials, and other teaching aids seldom depict anyone with a disability. If a child cannot relate to the material being presented, learning and understanding are not as likely to occur. In some cases, the children with disabilities may be able to learn facts yet still have difficulty transferring the information to their own situations. Most prevention programs available today try to address a variety of special populations. For youth with disabilities, however, the risks associ-

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Table 18.1 Principles of prevention. (Source: National Institute on Drug Abuse 2008) Principle One Principle Two Principle Three Principle Four Principle Five Principle Six

Principle Seven Principle Eight

Principle Nine Principle Ten Principle Eleven Principle Twelve

Principle Thirteen Principle Fourteen Principle Fifteen

Prevention programs should enhance protective factors and reduce risk factors Prevention should address all forms of drug abuse including prescription drugs, over the counter drugs, and tobacco Prevention programs should address the problems that exist within the local community Programs should be tailored to meet the unique needs and characteristics of the population to be served Family-based programs should be designed to improve bonding between parents and their children School-based prevention efforts should begin as early as possible to address risk factors such as aggressive behavior, poor social skills, and academic problems that are often related to later drug abuse. The specific topics covered in the prevention program should be age appropriate and designed to improve academic, social, and emotional learning Elementary school competencies should focus on academic support, social problem solving, communication, self-control, and emotional awareness Middle school and high school prevention programs should include study habits and academic support, communication skills, peer relationships, self-efficacy and assertiveness, drug resistance skills, and reinforcement of nonuse behavior Prevention efforts need to include a focus on individuals undergoing transitional periods in life Programs should avoid labeling families or individuals as “high risk” Two or more effective programs can be combined and used in more than one setting whenever possible Programs can retain the core elements of the original research-driven intervention (structure, content, and delivery) while modifying materials for the specific needs of the community Longer term programs with repeated interventions over time are preferred Teacher and other leader training in areas such as student reinforcement/rewards and classroom management techniques should be available Prevention programming needs to employ interactive teaching environments which include activities such as role-playing and peer discussion

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ated with ATOD use may be different. These differences need to be explored and addressed for the programming to be successful, for example, children who take medications need additional information related to risks associated with ATOD use with the medications. Another example is someone with a disability using ATOD to mask symptoms that he or she is experiencing. To have the most impact, the prevention messages for this individual need to be tailored to the person’s specific experience. Another phenomenon that is still seen in schools and other settings relates to the fact that education alone is not effective. When a system lacks policies and procedures or does not enforce appropriate consequences, prevention efforts will not have a long-term impact. Some people with disabilities find it relatively easy to avoid at least some of the negative consequences for ATOD use. For example, someone who uses a wheelchair for mobility who is arrested may not experience any of the consequences that someone without a disability may experience such as incarceration. There are anecdotal stories from all over describing how people with disabilities have been excused from the consequences of ATOD use. Although the intention behind this is generally positive, policies need to be enforced consistently for all individuals in order to avoid the appearance of excusing someone’s behavior because of a disability. These societal reactions to people with disabilities can include a tendency to overlook the use of alcohol and other drugs until the use becomes chronic and substantially more difficult to treat (Moore and Li 1998).

18.3 Risk Factors Research has suggested that adolescents with disabilities are at higher risk for substance abuse problems than other populations (McNamara and Willoughby 2010; Hasin et al. 2007; Compton et al. 2007; Nation and Helflinger 2006). Children with disabilities face physical, societal, psychological, and cultural barriers that can isolate them from other youth and can contribute to the lowering of both personal and educational poten-

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tial. Just like anyone else, a young person with a disability faces a number of situations, which can encourage substance use and abuse. These dynamics, which increase a person’s chance for substance abuse, are referred to as risk factors, and some of these risk factors are universal such as peer pressure, media messages encouraging substance use, periods of transition, and stress. A number of children with disabilities experience poor self-esteem, limited access to peer groups, chronic medical concerns, a reliance on prescription medications, and a high incidence of depression and related mental health problems, all of which contribute to their risk for ATOD-related problems. Other ATOD risk factors include the following: chaotic home environments; inappropriate classroom behavior; poor school performance; peer pressure; inadequate coping skills; substance use by friends; and perceived approval of substance use in family, peer, and/or community environments (Chassin et al. 1981; Fergus and Zimmerman 2005; Flay 2002; NIDA 2002; Smith et al. 1995). Some of these risk factors are discussed below:

18.3.1 Medical Concerns Compared with the general population, some children with disabilities experience increased medical and health problems. ATOD use can aggravate medical problems, which can include inadvertent drug abuse because of compromised or unusual drug tolerance; self-medication with ATOD; and multiple prescribed medications, which can create problems worse than what they were originally prescribed to alleviate (Hepner et al. 1980). Clinicians have documented easy access to prescribed medications as a significant risk factor for substance abuse (Manchikanti 2007; McCarthy 2007; Kuehn 2007; Manchikanti 2006; Forman et al. 2006). The problems associated with excessive or heavy medication regimens are sometimes very difficult to manage, even for the well-informed medical practitioner. Medications often are prescribed to reduce muscle spasms, treat frequent infections, regulate mood, and other physical needs. Unfortunately,


persons with physical disabilities can average two to five concurrent prescriptions, depending on age and condition (Boulet et al. 2009; Agostini et al. 2007; Yen et al. 2009).

18.3.2 Chronic Pain Self-medication for pain can be a significant risk factor for some individuals with disabilities, and prescription medication abuse is a form of substance abuse that is becoming more common (Leeies et al. 2010; Robinson et al. 2009). Several researchers have addressed the issue of persons with disabilities engaging in self-medication due to uncomfortable or painful episodes (Wasan et al. 2009; Proud 2009). Prescribed medications that are addicting can be dangerous alone, especially when used over a longer period of time. These drugs can also pose a significant health and safety threat when used in combination with alcohol or other drugs.

18.3.3 Social Issues Some children with disabilities struggle with identifying a peer group and other related social issues, especially in cases of congenital or earlyonset disabilities. Young people with disabilities may be isolated from peers, with fewer opportunities to develop relationships. Although much less common, some special needs students may still attend segregated schools or some segregated classes. These settings, in some cases, can increase risk for ATOD use by depriving students of the opportunity to learn constructive peer interaction or be made aware of peer pressure resistance skills (Todd 2009; Asch et al. 2008). In addition, anecdotal information from students with disabilities describes situations where peer groups, which endorse drug use, are actually easier to access than other peer groups. Sometimes this is because ATOD users are more accepting of personality differences or behaviors associated with disability. The increased desire for social acceptance may reinforce an individual with a disability to seek settings where drug use is common, thereby

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making the disability less noticeable. This phenomenon may increase as an individual gets older and is able to access drinking establishments or parties where alcohol and other drugs are present. An example of this is someone with a disability stating, “When I drink alcohol, I am just like everyone else. No one notices my disability.”

18.3.4 School or Academic Difficulties Youth with disabilities are at greater risk for school problems such as dropping out of school prior to graduation, ATOD use, and involvement in the legal system. In a study of data from the National Education Longitudinal Study (NELS) of 1988–2000, Hollar and Moore (2004) found that students with disabilities had higher rates of ATOD use with cigarette use significantly higher among students with disabilities when compared to their nondisabled peers. These data showed that students with disabilities who acknowledged ATOD use were more likely to discontinue education after high school, to report sexual activity beginning at a younger age, and to either be arrested themselves or to have friends with legal involvement. Youth with disabilities also are more likely to drop out of school than students without disabilities (Hollar and Moore 2004; US Department of Commerce 1995) with youth with more severe mental or intellectual disabilities dropping out of school at higher rates.

18.3.5 Enabling Children with disabilities can learn relatively quickly that many people make greater allowances in their expectations for someone with a visible disability. The general public appears to be less demanding and more willing to assist if the child has a disability. A young person with a disability has the choice of how to respond to this treatment, and unfortunately, substance abuse and taking advantage of other people’s feelings and generosity go hand in hand. Aside from the other negative side effects of preferential treatment, this habit also leads to societal enabling

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of drug use among persons with disabilities. For example, when an individual who experiences speech and gait difficulties is stopped for drinking and driving, the arresting police officer may allow that individual to go with a warning due to the disability itself instead of following the established procedures. In a school, a deaf student may break a rule and not be confronted if the observing faculty does not use American sign language or the preferred language of the student. These types of situations can inadvertently reinforce harmful or dangerous behaviors and may help mask a substance abuse problem.

18.4 Protective Factors and Resiliency Traits To become more resistant to risk factors and other negative influences, prevention programming focuses on developing protective factors and enhancing the resiliency of each child so that he or she can thrive even in situations that are difficult. Research shows that youth are less likely to become involved with ATOD use if they are made more resistant to risk factors and influences that promote ATOD use (Ostaszewski and Zimmerman 2006; Small and Memmo 2004). This approach emphasizes education in basic drug use dangers, as well as skill building in areas such as recognizing and resisting peer pressure, recognizing and avoiding drug-using environments, dealing effectively with stress, and learning how and where to communicate in a nonthreatening way about ATOD (Zollinger et al. 2003). Protective factors include strong parent–child bonding, appropriate parental supervision, clear rules of conduct that are consistently enforced, involvement of parents, school or educational success, and peer groups that support nonuse (ClintonSherrod et al. 2005; Fergus and Zimmerman 2005; Flay 2002; NIDA 2002; Smith et al. 1995).

18.4.1 Insight into Learning Style and/or Disability People with disabilities will have more success in life if they are knowledgeable about the charac-

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teristics and implications of their disabilities. Although labels are not important, individuals will need to recognize any limitations related to their disabilities as well as adaptations that work for them personally. In addition, there are opportunities that can be offered by the disability, and individuals should become aware of those opportunities. For example, many people who advocate for disability rights or who work with people with disabilities in rehabilitation or other settings are themselves people with disabilities.

18.4.2 Resourcefulness and Independence Children who are able to solve problems and identify options and resources for situations will be much more successful as adults than those individuals who have difficulty planning and brainstorming. A trait showing resourcefulness is the ability to attract positive and appropriate adult attention and support. Another issue here relates to understanding when to accept assistance versus when to maintain independence. It can be very easy for some people with disabilities to become trapped in situations where they are overprotected and unable to act independently. Someone with a disability needs to have opportunities to become independent, which includes understanding the benefits to failing in tasks. Most successful adults will credit part of their success to learning from their mistakes and having the courage to try again in a different way.

18.4.3 Social Competence Most people benefit greatly from having a peer group. Even having one close friend who shares similar beliefs and interests can have a very positive impact on resiliency. Social competence can manifest by joining age-appropriate groups such as school clubs, church groups, choirs, scouts, sports teams, etc. A child with a disability who can make others feel comfortable around him or her is also showing aspects of social competence. Having a sense of humor also can be a protective factor when used appropriately.


18.4.4 Academic or School Success Success can be defined differently for each individual. For some students, a high grade point average is an appropriate measure of success. However, not all children with disabilities will be able to achieve this type of success. Some examples of success include goal-directed behavior; ability to picture a positive future; achieving life skills such as job or independent living skills; bonding or attachment to the school; involvement in school activities; participation in gifted programming; and building appropriate relationships with adults and with peers. Understanding learning styles and discovering accommodations that are helpful is another measure of success and is a skill that will assist the child in the future as an adult.

18.5 Applying Prevention in Other Settings While ATOD prevention efforts are often implemented in academic settings, these are not the only environments in which prevention can be, or should be, focused. Prevention messages can be shared with youth and adults in almost any setting and by almost anyone. Prevention should not be limited to professionals in the fields of ATOD prevention or rehabilitation; information about the harm/consequences associated with excessive ATOD use/abuse can be disseminated in settings as diverse as a summer school camp, daycare or after school program, as well as in one’s church or home. Although formal prevention programming should be conducted by a trained professional, a person does not have to be an expert or even well versed in the field of prevention or education in order to share appropriate ATOD prevention messages with youth. However, any information provided must be accurate and must be presented in a way that is appropriate for the audience. One particularly helpful technique that can be used by most people to disseminate prevention messages is the “teachable moments” method. Generally, a teachable moment is unplanned

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where an opportunity presents itself providing a teacher or another adult with an ideal chance to offer insight into a situation. The opportunity must be perceived and taken advantage of by the adult. In a classroom setting, this situation typically will require a brief shift in attention as the lesson plan is put on hold to address a comment or question posed by a student. This tangent is generally very helpful because it is based on the student’s own experience or situation, and typically captures and maintains the attention of the class. One example is when a student makes a comment about an alcohol-related automobile accident that occurs in the local area. The teacher can take this student comment and use it as the starting point for a discussion about the dangers of drinking and driving; the teacher may decide to ask the student questions about what they know, or could simply share information about the physical and mental changes that occur when alcohol is introduced to the brain and body. In addition, the teacher may take advantage of this situation and share information about the alcohol laws relating to minors and the legal consequences of alcohol use. While the teachable moment method is typically defined as occurring in an academic setting, one should not limit this approach only to a classroom environment. Everyday, and often numerous times a day, adults are presented with opportunities to share information with others about the harmful consequences associated with ATOD use or other behaviors. These chances for education may occur in a work setting, in public settings, in private settings such as a medical setting, or in the home. News stories or events that happen locally can provide opportunities for teachable moments. There are frequently news stories related to alcohol-related deaths around school dances, graduations, and sporting events. Texting and driving is another example of dangerous behavior that has been in the media regularly. Discussing these local stories has a larger impact since the children will be able to more closely relate to the situation. Other prevention topics that may come up include marijuana use and discussions related to medical marijuana, unplanned pregnancies and sexually transmitted

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diseases, health issues, and self-advocacy. Family members may want to choose books or movies with messages that they want to discuss with their child. Health care professionals also have opportunities to provide prevention education through small teachable moments during office visits or routine medical appointments. In addition, one very important component of ATOD prevention for children with disabilities and for children who struggle socially and/or academically is the presence of at least one caring adult. Mentoring between a concerned adult and a child sets up a relationship that has proven to be effective in preventing ATOD use and other problem behaviors. Research has shown that a caring adult can help inoculate youth against drugs and alcohol, and this caring adult can be, but does not have to be, the parent (Kessler and Klein 1995; Small and Memmo 2004). In some situations, children with disabilities will identify with and feel closer to a teacher, a teacher’s aide, a mentor, or a social support leader as this adult often appears to be one of the only individuals in their lives who understands their situation.

18.6 Adapting Prevention Messages At a general level, adaptations are any change in the environment, instruction, or materials for learning that improves a student’s performance and allows at least partial participation in a learning environment (Darrow 2007). Adaptations are person-specific and are based on the individual’s unique learning needs and should take into account both strengths and weaknesses (Darrow 2007). Some researchers have argued that all students have differing learning styles and that curriculum and techniques need to be adapted for all youth (Bohrer 1995; Hardin and McNelis 1996; Moran et al. 2006). This thinking is similar to the philosophy of “No Child Left Behind” where the idea is to improve the basic skills of the nation’s public school children and to make disadvantaged and nontraditional students more visible so that teachers can help them (Comer 2004). Moran et al. (2006) emphasized that each learner has an intelligence profile that consists

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of a combination of strengths and weaknesses. There are many models of learning that address learning styles, including looking intelligence as multifaceted. One model looks at a learner’s relative strengths across nine different intelligences: linguistic, logical-mathematical, musical, spatial, bodily kinesthetic, naturalistic, interpersonal, intrapersonal, and existential (Gardner 2006). An important message in this model is a focus not on whether or not a child is intelligent but rather how that child is intelligent. Developing a basic understanding of strengths in these areas of intelligence is empowering for most children and allows them to explore accommodations and to advocate for themselves when needed. Darrow (2007) distinguishes between two specific types of adaptations: accommodations and modifications. Accommodations allow an individual to complete the same activity or assignment as their peers, but they are given a different format, setting, time frame, or response alternative. With accommodations, an instructor seeks to remediate the student’s problems so that he or she can accomplish the same task as the other students. Modifications, on the other hand, are used when the student cannot participate in the same way as the other students due to the nature of the disability or learning needs. In this case, students are encouraged to participate and perform at the highest level possible given their unique abilities. Modifications, by their nature, often alter the standard of participation and the outcomes measured. Modifications are part of a compensatory approach where an instructor needs to be aware of and develop the student’s abilities and assets. Another view of adapting instruction includes nine types of adaptations from Ebeling et al. (1994). These adaptations include the following: (1) modifying the time allowed for a task, (2) increasing or decreasing the number of items to be learned or completed, (3) increasing the level of support given to an individual, (4) changing the input or the way the material is presented, (5) changing the output or how the learner can respond, (6) adapting the amount of active participation, (7) changing to alternate goals and expectations, (8) adapt the level of difficulty in

18 Accessible Substance Abuse Prevention for All Children Table 18.2 Ways to adapt information When adapting the way information is presented and how instruction is given, consider the following: Adapt the number of items that the Size learner is expected to learn or complete Adapt the time allowed for learning or Time task completion Increase the amount of personal assisLevel of tance with a specific learner support Adapt the way instruction is delivered Input to the learner Adapt how the learner can respond to Output instruction Participation Adapt the extent to which the learner is actively involved in the task Adapt outcome/goal expectations while Alternate using the same materials goals Adapt the skill level, problem type, or Difficulty rules on how to approach the work Provide different instruction and Substitute materials curriculum

the lesson for each individual, and (9) if need be, provide different instruction and material (Table 18.2). Similarly, in the area of reading, Kozen et al. (2006) have conducted research on improving student content and reading comprehension, encouraging the use of adaptations to ensure that all students are benefiting from the exercise. In the area of input, some students may need additional visual (video, computer technology) and auditory supports (audio text). Other students may benefit from the identification of the major ideas, statements, and/or concepts to be learned in the activity; this can be done through simply highlighting sections of text or by having students work in groups with advanced readers. In an adaptation of size, students may need to divide the passage into smaller more manageable sections of reading to avoid the potential for overwhelming the student with large passages. For level of support, learners may benefit by being paired with a more proficient reader (peer or mentor) or by creating a cooperative group including a mix students from different reading levels. Sometimes goals need to be modified either by the number of goals or by the difficulty level. It is appropriate for children to have different goals and levels of achievement. When students need adaptations in the

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time allowed for a lesson they may be allowed to read materials at home or they may be given the equivalent of a take home test, which permits the student to prepare before class. Another adaptation in reading and time would be providing a summary of the central concepts to students prior to their reading. Educational materials need to capture the interest of children with disabilities, be at an appropriate reading level, utilize language, which is sensitive and culturally specific, and have examples with realistic social contexts. A person with a learning disability, developmental disability, or deafness may read at a low level, but that does not necessarily equate to the person’s level of functioning. Graphics, audiovisual materials, and role play activities can be sensitive to youth with disabilities by including situations, places, and things with which they are able to identify. In addition, the prevention messages should utilize a variety of learning modalities to reinforce key points. The challenge for the educator or prevention specialist is to utilize materials, which are both engrossing and carefully paced to account for various learning styles. As mentioned above, a session can be videotaped and played back in conjunction with a review of homework assignments. If the attendees exhibit impulse control issues, sitting for long periods of time or staying focused on a single source of information may be difficult. Shorter sessions that are very structured will be more successful. Prevention education for adolescents with disabilities should include sections on teaching youth with disabilities about the following: (1) peer pressure; (2) appropriate resistance skills; (3) the substance abuse risks specific to their disabilities, including the use of medications; (4) the law as it relates to the possession and use of illicit drugs; and (5) legal, social, developmental, family, and health consequences. Training models must be responsive to the areas of greatest risk for the adolescents with disabilities being served. For example, the onset of drug use by students in learning disability classes comes from considerably different factors than does the onset by students in classes for children with mental retarda-

362 Table 18.3 Examples of adaptations Use the computer when writing by hand is difficult Use voice recognition or voice input software when typing is difficult Use books on tape or use another student as a reader when reading is difficult Allow activities that encourage movement Allow students to show their knowledge through arts or other creative activities Use technology as often as possible Vary teaching styles frequently Switch between lecturing, reading, moving, etc., in each lesson Give instructions both orally and in writing Break tasks into manageable parts Use large print materials Minimize distractions by being aware of lighting, sounds, colors, patterns, etc. Maintain eye contact and face students when speaking Use interpreters when needed Repeat material often but use different modalities to avoid boredom Make rules that are clear and consistent Keep expectations realistic without lowering the expectations Understand that accepting a disability is a lifelong process Utilize opportunities for teachable moments Understand the difference between enabling and caring Listen

tion. Consequently, information must be relevant and individualized by disability if it is to be effective in preventing substance abuse (Table 18.3).

18.7 Prevention Through Alternative Learning Styles: One Successful Prevention Program for Youth with Disabilities The Prevention through Alternative Learning Styles (PALS) program has shown much success since it was developed in 1992. PALS first began as a training program for educators, in particular special education teachers. The initial 2-year project trained over 1,200 educators from the states of Ohio and Michigan and was awarded the 1994 Ohio Exemplary Prevention Award for its contribution to prevention education in Ohio. Trainees were provided with a day-long education ses-

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sion with the following training objectives: (1) to identify risks associated with substance abuse for youth with disabilities, (2) to identify the goals of prevention programs, (3) to gain confidence in the ability to provide prevention to youth with disabilities, (4) to identify techniques for adapting existing prevention education materials used with youth with disabilities, and (5) to identify ways to incorporate prevention into the current curriculum on a regular basis. Trainees were provided with training materials that included a manual containing specific prevention activities that were usable in the classroom. Anecdotal reports from trainees and from professionals working with youth in the community indicated that there was a lack of collaboration between the professionals working in the alcohol and other drugs (AOD) prevention and treatment field and the teachers and other educators working with students in special education. Youth in special education frequently were not offered prevention services and when they were involved in prevention activities the messages were not always presented in effective ways. At the same time, students with disabilities were being referred to traditional AOD programs that were unequipped to meet the individual needs of these youth, in part, because the disability was often not identified. On the basis of this information, in 1995, the PALS approach was expanded to include community-based prevention efforts with a focus on the special risks for substance abuse associated with disability. This combined approach allowed the opportunity for educators and community agency personnel to network while being trained to adapt prevention activities to better meet the needs of youth with various learning styles. From 1997 to 1999, PALS trained an additional 1,300 educators and social service providers and in 1999, PALS again received an Ohio Exemplary Prevention Award. The PALS program continued to evolve throughout the next several years expanding from a strictly professional developmental training project into a multifaceted research and training program that includes measures of student outcomes. The PALS program has been designed


at all stages to incorporate the components of effective evidence-based prevention programs and is based on a number of principles. First, PALS views prevention education as an ongoing dialogue between adults and youth in all settings and situations; dissemination of ATOD prevention messages can, and should, occur in a variety of environments both inside and outside of the classroom. For the past 15 years, prevention educators have known that adult role models can have more influence on whether or not a youth will initiate drug use than any of the other environmental factors (Kessler and Klein 1995). This adult need not be the parent, and in fact, special education students may rely on teacher and other adult guidance more often than other students do. The second principle is derived from resiliency models of prevention in the child development and public health fields (Wolin and Wolin 1993). PALS promotes building resiliency skills in students from all backgrounds with differing learning styles. Youth are less likely to become involved with ATOD use if they are made more resistant to risk factors and influences that promote use. This theoretical approach is the most widely adopted in the country today. In order for youth to avoid problematic behavior, according to this theory, they must develop attitudes and skills that promote abstinence and good choices. This approach emphasizes education in the harmful effects of ATOD, as well as skill building in such areas as recognizing and resisting peer pressure, recognizing and avoiding drug-using environments, and dealing effectively with stress. This model also encourages prevention throughout the learning years as opposed to a curriculum offered only once or twice during the school-age years. The third principle utilizes the special education model of adapting materials to meet the individual needs of students. The best way to make prevention accessible for youth with disabilities is to modify existing evidence-based curricula in content and also in style of presentation to match students’ specific needs, sociocultural perspectives, and related abilities. An excellent model for modifying curriculum material was developed at the Center for School and Community Integration Institute for the Study of Developmental

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Disabilities at Indiana University (Ebeling et. al. 1994). The PALS program includes implementer training and support as well as a curriculum for students.

18.7.1 Implementer Training Adults interested in learning the PALS program participate in a day-long training session, which provides an overview of the terminology and philosophies incorporated in the ATOD prevention field. The goals of the PALS program directly parallel those in the prevention field and provide participants with professional skills that can help decrease student risk factors and increase both protective factors and student resiliency. Underlying the PALS philosophy is the belief that all students need prevention, especially those with disabilities and/or alternative learning styles. These students can be missed in traditional prevention efforts because they frequently have problems being successful in traditional programming efforts. Some students may have difficulty maintaining attention, understanding the prevention messages, or applying the information to their own situations. These youth often have a strong desire to “fit in,” which can set them up to be more easily influenced or victimized by their peers. The PALS approach reminds participants of the often subtle nature of peer pressure and shows them how to instruct students in the use of refusal skills and how to make healthy lifestyle choices. Trainees are presented with information that summarizes the prevalence of ATOD use in the United States among students with and without disabilities. Statistical findings from the NELS and the Monitoring the Future research program are presented with the goal of providing teachers with accurate normative data describing the percentage of students using ATOD, along with an overview of usage trend changes over the years. These studies have shown that youth and adults with disabilities use ATOD at the same or higher rates than the general population. Consistent associations have also been found between individuals who use cigarettes, alcohol, and illicit drugs.

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Table 18.4 Adapting PALS to a different cultural setting Alcohol, tobacco and other drugs (ATOD) cause harm to children in many countries, and prevention activities are being incorporated into school curricula throughout the world. Activities developed in one country are sometimes used by teachers in different countries. However, the simple transfer of prevention programs and activities from one culture to another may threaten program efficacy if adaptations are not made. Backer (2001) proposed formal program adaptation guidelines, which emphasize balancing program fidelity and adaptation as a best strategy for improving prevention program outcomes in different ethnic or cultural settings. Castro et al. (2004) introduced three essential adaptation dimensions: (a) cognitive information processing characteristics such as language and age/ developmental level; (b) affective-motivational characteristics as related to gender, ethnic background, religious background, and socioeconomic status; and (c) environmental characteristics that include ecological aspects of the local community Dr. Karel Pancocha had the opportunity to use several of the PALS prevention activities at the Kocianka Elementary School in the Czech Republic. These activities required adaptations for use in the Czech environment. Dr. Pancocha worked with children between the ages of eight and twelve who had multiple disabilities, including children with autism spectrum disorders, developmental disabilities, and visual impairments. Since this was the first time that many of the students were exposed to ATOD information, the activities focused on providing a basic understanding of self-concept, disability, and peer pressure as well as an introductory knowledge of drugs that can be abused and the effects of drug abuse Since the students’ writing and reading skills were very limited, activities that featured visuals, drawing, story-telling, and role playing were selected. The adaptations to the PALS activities focused primarily on the cognitive information processing dimension. Translation from one language to another, from English to Czech, was the obvious first necessary step. As the language and directions of the PALS program tended to be straightforward and practice oriented, this part did not cause much difficulty. The teachers predominantly focused on the vocabulary and tried to match it with the students’ abilities, while keeping the message and meaning. Some PALS activities included names of imaginary characters, which were changed to reflect names more familiar to students in the Czech Republic Much more adaptation needed to be done on the visual content of the program. It was necessary for the students to recognize and be familiar with all of the depicted content. This was especially important for the students, as they could not rely on written instructions. Generally, the PALS program includes people of different genders, races, ethnicities, learning abilities, and disabilities within its visual content. To hold to this idea, visuals were used that reflected the situation in the Czech Republic. The most important adaptation was including people from minority and ethnic groups present in the Czech Republic (i.e., the Romani, Vietnamese) and excluding those that are not relevant to their current demographics The visual materials needed further adaptation in making the featured environment more relevant to the Czech setting. As the students tended to spot even small cultural mismatches, it was critical to make sure that all the portrayed objects corresponded to the life they were familiar with. This included changing the clothes that characters were wearing, shapes of houses, types of toys, home appliances, grocery store supplies, etc.

Individuals who use one of these substances are more likely to engage in use of one of the other substances. In addition to a review of some of the common learning and intelligence theories including Fleming’s (2001) visual, auditory, reading, and kinesthetic model, Gardner’s (2006) theory of multiple intelligences, and right brain/left brain theory (McCarthy 1987), trainees are led through a number of activities to reinforce ways to adapt materials for different audiences and different learning styles. An essential component of this training reviews different techniques for presenting ATOD prevention messages in addition to ways to adapt theses messages for specific disability groups or learning needs. Participants are then shown how to take an active role in adapting their teaching style in order to meet the needs of

all learners. They are instructed not to lower their expectations; instead they should either change the way the class materials are presented or modify the mechanism with which student knowledge is demonstrated. Trainees are encouraged to build on the students’ strengths to help compensate for their weaker areas. They are also encouraged to make use of technology when feasible, including visual magnification equipment, hearing amplification products, software programs, and computers for basic educational activities (Table 18.4).

18.7.2 Student Components The PALS program provides education in the harmfulness of ATOD use, as well as skill building in areas such as recognizing and resisting


peer pressure, recognizing and avoiding drug-using environments, dealing effectively with stress, and learning how and where to communicate in a nonthreatening way about drug use questions (Zollinger et al. 2003). It also helps students understand their abilities, disabilities, and learning styles. Each activity has been aligned with the Ohio Department of Education’s standards for education. This guides the lesson planning process and ensures that each activity is within the scope of learning goals and objectives that meet the state’s educational standards. Students are exposed to material that is appropriate for their grade level. The students participate in five units, with a minimum of two lessons per unit, for a total of ten lessons. Each unit includes many additional lessons and activities so the program can be tailored to fit the student’s particular needs. In addition, the PALS curriculum was designed to enhance, rather than supplant, any prevention education that occurs at school or in any other setting. Activities or lessons can be stand alone as well as being used as a complete curriculum. The first unit is Understanding Differences and Learning Styles. This unit describes several different approaches to learning and theories of intelligence, and helps students determine their preferred learning modalities; students are encouraged to advocate for themselves and allowed to practice in peer-role play sessions. The second lesson in this unit promotes awareness of individuals with disabilities (physical, emotional, cognitive, and learning). Students participate in a number of hands-on disability simulations, which helps them understand how to find alternative ways to solve a task. Great care is taken to ensure that students leave this activity with an understanding that people with disabilities can do almost anything that others can; they just may need to adapt and do it differently. The second unit, Effects of Alcohol, includes a number of unique demonstrations; the first is designed to show the physical damage that alcohol consumption can cause to the cells in the body, and the second demonstration illustrates serving sizes. Following each demonstration and discussion, students can complete a science report or

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writing response activity. Other student activities in this unit include (but are not limited to): reading a storybook and/or PowerPoint presentation of the storybook; designing and creating an alcohol education poster; a creative writing project; cross-word puzzles, word searches, and hidden picture activities. The third unit is Effects of Tobacco and is designed to show students the many harmful consequences that result from smoking cigarettes or using a tobacco product. This unit includes several hands-on activities and a lab experiment. Students are shown visual illustrations of the amount of tar that accumulates in the body after a year of smoking a pack of cigarettes a day; students are also allowed to touch simulated tar and experience its sticky and tacky properties first hand. The lab experiment has the class create a “lung machine” that can actually show the effects of tar and the other chemicals on sensitive lung tissue. Students are asked to describe what they learned in the demonstrations and lab experiments through discussion or by completing a science report, drawing activity, or writing response activity. Additional student activities in this unit include reading and discussing a storybook; completing a research activity based on a criminal investigation theme, mathematics worksheets focusing on costs associated with tobacco use, and word search and puzzle activities. The fourth unit, Effects of Other Drugs, focuses on the effects that cocaine and marijuana can have on both the brain and the body. This section also provides a review of prescription and overthe-counter medications to include information on latest trends and potential ways these drugs can be misused and/or abused. The focus is on the negative consequences of the use of illicit drugs and the misuse of prescribed medications. Several in-class demonstrations are conducted to show how cravings can occur. Another demonstration activity shows how even a simple memorization task or simple set of directions can become complicated when something is fighting for attention from someone’s brain. There are also perception experiments allowing students to experience sensory distortions similar to those which can result from misuse of medications or

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use of illegal drugs and a normative activity and graphing project, which attempts to demonstrate that most young people do not use alcohol and other drugs. Not surprisingly, this is one area that is very difficult to teach children who frequently still believe that most teenagers smoke and use other drugs. The last unit is called Peer Pressure and Healthy Choices. This unit reviews the types of peer pressure and provides relevant examples. Students are taught a number of ways to address negative peer pressure and they can participate in a role-playing exercise to develop their refusal skills in the real world. There is also a focus on healthy peer pressure and how to utilize the strength of a group to overcome obstacles that seem insurmountable. Other activities address how advertising and the media can be used to promote and sell ATOD products as well as attitudes and beliefs. One of the key characters in the PALS materials is a dog named Tommy, and there are several pieces of literature that use Tommy to promote healthy lifestyle choices.

18.8 Conclusion The purpose of this chapter was to provide a newer way of thinking about ATOD prevention. Prevention is not a “one shot deal” only provided in a school setting by professionals in the chemical dependency field. Rather, all adults can and should be involved in providing ATOD prevention information to today’s youth. It is a community responsibility to provide guidance and direction to children and encourage them to make healthy choices such that they can have success in all areas of their lives. Although it is important to provide accurate information when providing prevention messages, not every prevention message has to be detailed and scientific. Basic information about ATOD, peer pressure, healthy lifestyles, and resistance are just as important as the more detailed information addressed in educational settings and treatment settings. Since all youth have different experiences, backgrounds, and abilities, adults need to meet them at their level and provide prevention information in

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a way that is meaningful and relevant to each unique individual. Adults need to seize all possible opportunities available and send frequent and consistent prevention messages to youth. The PALS philosophy and approach to disseminating ATOD prevention education does work! Statistical results from trainings conducted over the years indicate that the PALS approach can successfully change both participant attitudes toward providing ATOD education and their actual work behavior. Training participants reported significant improvements in their ATOD knowledge and ability to modify/adapt prevention messages for youth from differing backgrounds and ability levels. They also reported more confidence in their ability to provide ATOD education and to adapt ATOD activities. The majority of participants in PALS find that they can utilize teachable moments as well as make basic modifications to prevention messages and they feel empowered to spend more time incorporating prevention into their normal schedules. When children receive consistent and repeated prevention messages, they begin to incorporate that information, making abstinence and healthy choices a normal part of their lives.

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Fleming, N. D. (2001). Teaching and learning styles: VARK strategies. Christchurch: N.D. Fleming. Forman, R. F., Woody, G. E., McLellan, T., & Lynch, K. G. (2006). The availability of web sites offering to sell opioid medications without prescriptions. The American Journal of Psychiatry, 163(7), 1233–1238. Gardner, H. (2006). Multiple intelligences: New horizons. New York: Basic Books. Gottfredson, D. C., & Wilson, D. B. (2003). Characteristics of effective school-based substance abuse prevention. Prevention Science: The Official Journal of the Society for Prevention Research, 4, 27–38. Grant, B. F., Chou, S. P., Goldstein, R. B., Huang, B., Stinson, F. S., Saha, T. D., Smith, S. M., Dawson, D. A., Pulay, A. J., Pickering, R. P., & Ruan, W. J. (2008). Prevalence, Correlates, Disability and Comorbidity of DSM-IV borderline personality disorder: Results from the wave 2 national epidemiologic survey on alcohol and related conditions. The Journal of Clinical Psychiatry, 69(4), 533–545. Hardin, D. E., & McNelis, S. J. (1996). The resource center: Hub of inclusive activities. Education Leadership, 53(5), 41–43. Hasin, D. S., Stinson, F. S., Ogburn, E., & Grant, B. F. (2007). Prevalence, Correlates, Disability and Comorbidity of DSM-IV alcohol abuse and dependence in the United States: Results from the national epidemiologic survey on alcohol and related conditions. Archives of General Psychiatry, 64(7), 830–842. Hepner, R., Kirshbaum, H., & Landes, D. (1980). Counseling substance abusers with additional disabilities: The center for independent living. Alcohol Health Research World, 5(2), 11–15. Hollar, D., & Moore, D. (2004). Relationship of substance use by students with disabilities to long-term educational, employment, and social outcomes. Substance Use & Misuse, 39(6), 931–962. Kessler, D. T., & Klein, M. A. (1995). Drug use patterns and risk factors of adolescents with physical disabilities. International Journal of the Addictions, 30(10), 1243–1270. Kuehn, B. M. (2007). Prescription drug abuse rises globally. Journal of the American Medical Association, 297(12), 1306. Kozen, A. A., Murray, R. K., & Windell, I. (2006). Increasing all students’ chance to achieve: Using and adapting anticipation guides with middle school learners. Intervention in School and Clinic, 41, 195–200. Leeies, M., Pagura, J., Sareen, J., & Bolton, J. M. (2010). The use of alcohol and drugs to self-medicate symptoms of posttraumatic stress disorder. Depression and Anxiety, 27(8), 731–736. Longshore, D., Ghosh-Dastidar, B., & Ellickson, P. L. (2006). National youth anti-drug media campaign and school-based drug prevention: Evidence for a synergistic effect in ALERT Plus. Addictive Behaviors, 31(3), 496–508. Losciuto, L., Rajala, A. K., Townsend, T. N., & Taylor, A. S. (1996). An outcome evaluation of across ages: An

368 intergenerational mentoring approach to drug prevention. Journal of Adolescent Research, 11(1), 116–129. Manchikanti, L. (2006). Prescription drug abuse: What is being done to address this new drug epidemic? Testimony before the subcommittee on Criminal Justice, Drug Policy and Human Resources. Pain Physician, 9, 287–321. Manchikanti, L. (2007). National drug control policy and prescription drug abuse: Facts and fallacies. Pain Physician, 10, 399–424. Martino, S. C., Collins, R. L., Ellickson, P. L., Schell, T. L., & McCaffrey, D. (2006). Socio-environmental influences on adolescents’ alcohol outcome expectancies: A prospective analysis. Addiction, 101(7), 971–983. McCarthy, B. (1987). The 4MAT system: Teaching to learning styles with Right/left mode techniques. Barrington: EXCEL. McCarthy, M. (2007). Prescription drug abuse up sharply in the USA. Lancet, 369, 9572. McNamara, J. K., & Willoughby, T. (2010), A longitudinal study of risk-taking behavior in adolescents with learning disabilities. Learn disability Research and Practice, 25, 11–24. Moore, D., & Li, L. (1998). Prevalence and risk factors of illicit drug use by people with disabilities. The American Journal on Addictions/American Academy of Psychiatrists in Alcoholism and Addictions, 7(2), 93–102. Moran, S., Kornhaber, M., & Gardner, H. (2006). Orchestrating multiple intelligences. Education Leadership, 64(1), 22–27. Nation, M., & Helflinger, C. A. (2006). Risk factors for serious alcohol and drug use: The role of psychosocial variables in predicting the frequency of substance use among adolescents. The American Journal of Drug and Alcohol Abuse, 32(3), 415–433. National Institute of Drug Abuse. (NIDA) (2002). Risk and protective factors in drug abuse prevention. NIDA Notes, 16(6), 1–2. National Institute of Drug Abuse. (NIDA) (2008). Fewer young adults abuse cocaine and methamphetamine national survey finds. NIDA Notes, 22 (2), 5–6. Ostaszewski, K., & Zimmerman, M. (2006). The effects of cumulative risks and promotive factors on urban adolescent alcohol and other drug use: A longitudinal study of resiliency. American Journal of Community Psychology, 38(3), 237–249. Pentz, M. A. (2003). Evidence-based prevention: Characteristics, impacts, and future directions. Journal of Psychoactive Drugs, SARC Supplement, 1, 143–152. Proud, C. (2009). Opioid therapy for chronic pain: Risk management strategies, Journal of Nurse Practitioners, January, 47–52. Robinson, J., Sareen, J., Cox, B. J., & Bolton, J. (2009). Self-medication of anxiety disorders with alcohol and

J. A. Ford et al. drugs: Results from a nationally representative sample. Journal of Anxiety Disorders, 23(1), 38–45. Slater, M. D., Kelly, K. J., Edwards, R. W., Thurman, P. J., Plested, B. A., Keefe, T. J., & Henry, K. L. (2006). Combining in-school and community-based media efforts: reducing marijuana and alcohol uptake among younger adolescents. Health Education Research, 21(1), 157–167. Small, S., & Memmo, M. (2004). Contemporary models of youth development and problem prevention: Toward an integration of terms, concepts, and models. Family Related, 53(1), 3–11. Smith, G. T., Goldman, M. S., Greenbaum, P. E., & Christiansen, B. A. (1995). Expectancy for social facilitation from drinking: The divergent paths of high-expectancy and low-expectancy adolescents. Journal of Abnormal Psychology, 104(1), 32–40. Tobler, N. S., Roona, M. R., Ochshorn, P., Marshall, D. G., Streke, A. V., & Stackpole, K. M. (2000). Schoolbased adolescent drug prevention programs: 1990 meta-analysis. The Journal of Primary Prevention, 20, 275–336. Todd, S. (2009). Learning to take the world seriously: An ethnographic study of the management of knowledge in a special school for intellectual disabilities. Journal of Intellectual Disabilities, 13, 221–239. US Department of Commerce. (1995). Dropping out and disabilities. Bureau of the census population survey. Unpublished data. Wasan, A. D., Butler, S. F., Budman, S. H., Fernandez, K., Weiss, R., Greenfield, S., & Jamison, R. N. (2009). Does report of craving opioid medication predict aberrant drug behavior among chronic pain patients? The Clinical Journal of Pain, 25(3), 193–198. Werch, C. E., Owen, D. M., Carlson, J. M., DiClemente, C. C., Edgemon, P., & Moore, M. (2003). One-year follow-up results of the STARS for families alcohol prevention program. Health Education Research, 18(1), 74–87. Wolin, S. J., & Wolin, S. (1993). The resilient self: How survivors of troubled families rise above adversity. New York: Random House, Inc. Yen, C. F., Lin, J. D., Loh, C. H., Shi, L., & Hsu, S. W. (2009). Determinants of prescription drug use by adolescents with intellectual disabilities in Taiwan. Research in Developmental Disabilities, 30, 1354–1366. Zollinger, T. W., Saywell, R. M., Muegge, C. M., Wooldridge, J. S., Cummings, S. F., & Caine, V. A. (2003). Impact of the life skills training curriculum on middle school students tobacco use in Marion County, Indiana, 1997–2000. Journal of School Health, 73, 338–346.

Research Methods and Epidemiology for Children with Special Health Care Needs

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David Hollar and Arun Karpur

Abstract

Children with special health care needs (CSHCN) are the subject of many research activities that aim to directly or indirectly benefit CSHCN. Consequently, researchers must abide by high ethical standards in the planning, design, conduct, reporting, and protection of CSHCN data in their research work. Most importantly, researchers must view and respect CSHCN research participants as unique individuals with equal human and civil rights. The purpose of this chapter is to describe appropriate research design approaches, research ethics, respect for CSHCN, their families, and privacy rights, and epidemiological statistical methodologies. We discuss these issues within the context of biopsychosocial models such as the International Classification of Functioning, Disability and Health (ICF), Healthy People 2010 and 2020, Focus Group 6 (Disability and Secondary Conditions), as well as with respect to US legislation such as the Family Educational Rights and Privacy Act (FERPA) and the Health Insurance Portability and Accountability Act (HIPAA). Throughout research activities with CSHCN, the focus should be on rigorous methods that have the potential to benefit CSHCN while minimizing risks and protecting individual rights of CSHCN.

D. Hollar () University of North Carolina at Chapel Hill, 7530 Chapel Hill, NC 27599, USA e-mail: [email protected]; [email protected] A. Karpur Employment and Disability Institute, ILR School, Cornell University, 16E 34th ST, New York, NY 10016, USA e-mail: [email protected] D. Hollar (ed.), Handbook of Children with Special Health Care Needs, DOI 10.1007/978-1-4614-2335-5_19, © Springer Science+Business Media New York 2012

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Abbreviations

AAP American Academy of Pediatrics ANOVA Analysis of Variance AUC Area under the Curve CDC U.S. Centers for Disease Control and Prevention CSHCN Children with Special Health Care Needs FERPA Family Educational Rights and Privacy Act HHS US Department of Health and Human Services HIPAA Health Insurance Portability and Accountability Act ICDR Interagency Committee on Disability Research (U.S.) IRB Institutional Review Board MANOVA Multiple Analysis of Variance NICHD National Institute of Child Health and Development NIH National Institutes of Health NS-CSHCN National Survey of Children with Special Health Care Needs RCT Randomized Clinical Trial ROC Receiver Operating Characteristic SAS Statistical Analysis System (SAS Institute, Cary, NC) SEM Structural Equation Model SPSS Statistical Package for the Social Sciences (SPSS, Inc., Chicago, IL) USC United States Congress

19.1 Introduction Studying the life course experiences of children with special health care needs (CSHCN) follows parallel methodologies utilized by educational researchers and public health epidemiologists. Specifically, CSHCN researchers incorporate Popper’s (1935, 2002) deductive approach involving the development of falsifiable hypotheses or research questions emerging from the re-

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search literature, followed by structured research designs involving consenting participants to test the hypotheses. Researchers can conduct less structured, qualitative, and ethnographic analyses as well within grounded theoretical constructs, although such methodologies might be difficult to interpret and generalize to other populations without an arsenal of comparative studies that use complementary methodologies (Rothman and Greenland 1998). The importance of measuring attributes (e.g., health, educational, environmental, attitudinal) of CSHCN is the same as for any human subjects research involving any group of persons: (a) to collect data for theory testing to expand knowledge base; (b) to advance applied knowledge involving products and services for this population; (c) to inform practitioners and policymakers for improving systems to serve this population; and (d) to provide feedback to this population for their welfare, personal information, and advocacy work. Methods of data collection include direct observation (e.g., ethnography, ethology) of CSHCN; interviews with CSHCN and/or parents, guardians, caregivers, teachers, counselors, peers, etc.; access to school records (with permissions in the United States under the Family Educational Rights and Privacy Act—FERPA; Buckley Amendment Title IX of the Higher Education Amendments of 1972—USC §1232g, 34 CFR 99); access to health, medical records, and other clinical data (with permission in the United States under the Health Insurance Portability and Accountability Act—HIPAA; 1997 Amendment Part 7 to Title 1 of the Employee Retirement Income Security Act of 1974; 42 USC §1320d1320d8, Public Law 104-191, sections 262 and 264; see Hollar 2009); and secondary analyses of existing databases collected by other researchers or by private and government agencies (e.g., National Center for Education Statistics; National Center for Health Statistics).

19.2 Participant Rights The individual CSHCN is the subject of these research activities, which in turn should have outcomes that directly or indirectly benefit CSHCN.

19 Research Methods and Epidemiology for Children with Special Health Care Needs

Consequently, researchers must abide by high ethical standards in the planning, design, conduct, reporting, and protection of CSHCN data in their research work. Most importantly, researchers must view and respect CSHCN research participants as unique individuals with equal human and civil rights. Typically, researchers are required to certify completion of human subjects research training, complete Institutional Review Board (IRB) documentation with IRB approvals for conducting the research, including study design, protection of participants, and reporting of incidents that affect participants. Researchers must be authorized and trained in proper storage and maintenance of security for confidential individual data, and they must report on all aspects of a project to organizations, communities, funders, government representatives, external auditors, and/or project advisory boards. Central to the entire research process is the individual CSHCN research participant and her/ his rights. No matter what pressures or data needs might confront the research project, the researcher must respect the wishes of individual participants and their families, including their denial of consent to perform research or collect data (while they still receive needed services) and their right to revoke consent for the researcher to use their data at a later time (unless the data have been deidentified with no linkage to consent forms). In other words, the research participant can participate in a study and receive services, but the researcher cannot use the data if the participant refuses such use. Furthermore, in the case of a research design with experimental/control groups where the experimental group receives a special service, intervention, or treatment that is potentially beneficial for health and/or quality of living, the researcher has the responsibility to offer the service, intervention, or treatment to all participants at the close of the study if they did not receive the service during the study. The researcher must minimize participant risks during the research study, including pain, injury, psychological trauma, loss/theft of data, and breach of confidentiality. Participant compensation is usually optional, but in no instance should any research participant be coerced into

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a research study. For CSHCN, the researcher must describe the study and read the consent form to the child and/or parent/guardian, who must clearly understand the purpose of the study, their rights, and all risks involved in the study. Researchers must also use appropriate disabilityspecific language (Gouvier and Coon 2002; May and Ferri 2005). For educational and psychological testing involving performance and achievement testing for promotion, CSHCN should have ample time, accessibility (e.g., alternative forms, computerized and online tests, Braille versions, proctor to read the test to the participant), and multiple chances at successful completion of tests (American Educational Research Association et al. 1999). The American Educational Research Association, American Psychological Association, and the National Council on Measurement in Education together published Standards for Educational and Psychological Testing, a useful guide for proper study design, validation of test instruments, reporting, and protecting the rights of study participants, including children with disabilities.

19.3 Research Design Issues Too many researchers focus too strongly on obtaining data, analyzing, and publishing, all too often neglecting proper study designs resulting in weak analyses that invalidate their original hypotheses, pose numerous needless study limitations that must be reported (further casting doubt on the study’s conclusions), and that constrain the study to either no publication or publication in lower-tier journals. The implementation of a proper study design, participant roll, and analysis plan is a simple straightforward process that can prevent much research grief, delays, and post hoc study modifications once the study is complete. The National Research Council (2002), led by several prominent scientists (Feuer et al. 2002; Shavelson and Berliner 1988), has argued for a more scientifically based educational research paradigm to address perceived weaknesses in the quality of educational research. Their recommendations included greater emphases on research

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design, methodological rigor, peer-reviewed regulation, and the establishment of a national educational research agency, while stressing that good educational research can include qualitative as well as quantitative methodologies (Feuer et al. 2002). Furthermore, this policy report acknowledged the weaknesses in current scientifically based research across most disciplines, including medicine and the physical sciences. CSHCN researchers have also stressed the need for greater methodological rigor (Fields and Jette 2007; Frontera 2006; ICDR 2007).

19.4 Research Methodologies The type of research setting and the experimental, quasiexperimental, or nonexperimental research design determine the type of research questions that can be asked and the appropriate analytical research methodology. Too often, researchers formulate a poor set of research questions, provide no questions at all, and/or choose a convenience sample of subjects, subsequently providing subjects with hastily assembled questionnaires or marketed instruments of questionable validity, reliability, and generalizability, followed by data mining for “significant results.” Equally problematic are nonrandom assignments of subjects to “control” and “experimental/intervention” groups, the use of brief, ineffective interventions, and/or the presence of multiple confounders (e.g., previous experience, heightened awareness of the experimental scenario). Such problems pose numerous threats to the internal and external validities of the research study. Careful planning and simple procedures established at the beginning of the research development plan can greatly improve the quality of a research study while simultaneously making the experiment a worthwhile experience for the participants. For research studies, validity refers to the accuracy of an analysis: the capacity for a set of measurement instruments/questions to accurately identify a condition or characteristic. Closely connected to validity is reliability: the capacity for a set of measurement instruments/questions


to consistently be in agreement (precision) for whatever it is that they are supposed to measure. Validity requires reliability, but not the converse. For example, a set of questions might consistently agree on a measurement, but they might not necessarily correctly be measuring what the researcher believes them to be measuring. Finally, generalizability is the capacity of measurement instruments/questions to yield similar results regardless of the type of people (i.e., the sample population) who are measured (Crocker and Algina 1986; Gay 1992; Lissitz and Samuelsen 2007; Messick 1988).

19.4.1 True Experimental Designs Research designs may be experimental, quasiexperimental, or nonexperimental in nature (Gay 1992). True experimental designs include: (a) pretest-posttest control group designs, (b) posttest-only control group designs, and (c) Solomon four-group designs (Gay 1992). The pretest-posttest control group experimental design involves random selection of subjects to two or more groups that differ by the treatment/service/ intervention that is given to them. For example, group 1 is the control that receives no service or receives only the usual service that all of the groups typically receive, whereas group 2 receives a new educational module on top of usual education, and group 3 receives an even stronger exposure (e.g., duration) to the educational module. All groups take a pretest before the treatment, which is followed by a posttest. In the subsequent analysis, the independent variable (i.e., that variable that changes between the groups, in this example an educational module) is assessed for its effect upon the dependent variable (i.e., the outcome, in this example—do students learn more?). The main weakness to this type of experimental design is the possibility of persons from all three groups, including the control, becoming sensitized to the purpose of the study when they are taking the pretest (Gay 1992). For a posttest only control group experimental design, the setup is similar, except that the groups do not receive a pretest. This design is


weaker because the researcher cannot determine if the tested groups differed on a characteristic at the beginning of the study. Consequently, the researcher cannot definitively determine if any posttest difference between the groups is due to the effects of the intervention or from the test, the measurement instruments, regression of subject responses to the mean score, or due to interactions with confounder variables (e.g., differences in testing environments, cross-talk between group participants, demographic variables such as gender and race, etc.; Gay 1992). The strongest true experimental design is the Solomon four-group experimental design: subjects are randomly assigned to the four groups. Two groups receive a pretest, two groups do not, thereby allowing the researcher to later assess the effects of the pretest and differences across groups. Of the two pretest groups A and B, group A is the control or comparison group, whereas group B receives the new treatment. Likewise, of the two nonpretest groups C and D, group C is the control or comparison group, whereas group D receives the new treatment. All groups receive the posttest. With this design, the researcher can control the intervention and the effects of testing, thereby removing many threats to the validity of the experimental design (Gay 1992). Certainly, confounders can exist that contribute to certain interactions, but the researcher can measure across several demographic variables in an attempt to control or measure the effects of other factors (referred to as covariates).

19.4.2 Quasiexperimental Designs Quasiexperimental designs do not utilize random assignment of subjects to groups. They include: (a) nonequivalent control group designs; (b) time series designs; and (c) counterbalanced designs (Gay 1992). A nonequivalent control group design is identical to the pretest-posttest control group experimental design except for no random assignment to groups. The comparison and intervention groups receive a pretest, then an intervention (except for the control/comparison group), then a posttest. Because of nonrandom

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assignment of participants to groups, threats to internal validity of the research design include regression of participant scores to their group means coupled with biased interactions between groups and participant composition, while external threats include pretest–treatment interactions (where the pretest cues the participants to the nature of the study and its expected outcome; Gay 1992). Time-series designs are widely used by researchers and are valuable in that they allow the researcher to collect multiple measurements on individuals over time, thereby allowing for more realistic assessments of individual and group change. One or several groups can each receive one or many successive pretests, with a treatment following the last pretest, followed by one or many successive posttests. Internal threats to validity include unknown historical effects (immediate and global) on each individual in the study, validity of the pretest and posttest instruments, while external threats to validity include pretest–treatment interactions again (Gay 1992). It is possible to control for these threats by random assignment of individuals to groups, and it is also possible to merge this approach with any of the three true experimental designs, although pretest–treatment interactions might persist in such a more complicated time-series experimental setup, which also would require very large numbers of participants. Nevertheless, longitudinal studies of individuals and groups can provide more accurate and realistic measurements of interventions and outcomes (Hollar 2005; Singer and Willett 2003). Counterbalanced quasiexperimental research designs involve interchanging pretests, then treatment, posttest, then second treatment, second posttest, then third treatment, then third posttest, etc. Different comparison groups receive the treatments in different orders. Therefore, six comparison groups with three treatments would receive treatments in the order 1-2-3, 1-3-2, 2-1-3, 2-3-1, 3-2-1, and 3-1-2, respectively. Participants typically are not randomly selected to a particular ordered treatment group but instead enter the study and receive the treatments randomly, thus establishing their group membership.

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An internal threat to validity would be participant ordering bias effects, while external threats to validity include test–treatment interactions and the confounding effects of multiple treatments (i.e., which treatment affected final outcomes more; Gay 1992). A more structured approach to counterbalanced research designs would involve random assignment of subjects to groups, with adequate statistical power (described below) for numbers of persons per group, the use of standardized and/or equivalent test instruments per pretest and posttest (Crocker and Algina 1986), and interventions that are similar but contain a distinctive component unique to the treatment. The advantage of counterbalanced designs is the control for ordered treatment effects. However, the more treatments, the more ordered scenarios that are required (e.g., six groups for three treatments; 24 groups for four treatments, etc.).

19.4.3 Nonexperimental Research Designs Nonexperimental research designs include: (a) one-shot case studies, (b) one-group pretestposttest designs, and (c) static group comparisons (Gay 1992). The one-shot case study involves measurement of a single group of individuals, or even of a single individual. There is an intervention and posttest, or some other combination of these and other methods. In ethnography, the researcher would directly observe individuals and collect data during the observations, or the individuals might write a journal of their activities and reflections that the researcher subsequently analyzes. Ethnographic techniques, which often are considered separate from nonexperimental research designs, have many of these same research design features. Ethnographic research designs using one-shot case studies can involve the researcher recording all behaviors by an individual or group during a specified time period, selected behaviors, or time duration of behaviors. With the complexity of behaviors in even small groups, videography and follow-up analyses of subject recordings can be scored by several trained observers/raters, with their level of agree-


ment on subject measurements being evaluated with valid statistical techniques (Crocker and Algina 1986). Variations of the one-shot case study include a one-group pretest-posttest design, which is just the one-shot case study with a pretest added, and static group comparisons, which are one-shot case studies applied to two or more groups with differing treatments followed by a posttest. All of the nonexperimental research designs suffer internal threats to validity including historical effects on participants, changes in participants during the course of the study, loss of subjects from the study, and selection effects due to nonrandom assignments of individuals to groups or, as usual, already existing groups being studied (Gay 1992). External threats to validity for these designs include test–treatment interactions (Gay 1992). With ethnographic observations or for experimental designs, individual’s heightened awareness of being observed (i.e., Hawthorne effects) can influence how they behave and how they respond to questions on psychometric instruments, thereby affecting researcher interpretations of results. Nevertheless, the one-shot case study is widely used and can be extremely valuable in collecting realistic behavioral data on subjects that would have been missed in a structured psychometric instrument or a checklist of standardized items. Ethnographic one-shot studies (e.g., focal group or individual observations, all occurrences recording of group behaviors) require many hours (e.g., hundreds of hours) of observing and recording, but they have been shown to yield dynamic behaviors over time that can be mathematically modeled and applied to further research and policy. In all of these designs, it is important for the researcher to consider time delays between the pretests, interventions, and posttests. Time effects, communications among participants, historical events in participants’ lives, demographic histories, and many other factors can have subtle effects on how people behave or respond to questions. Furthermore, the researcher must carefully prepare the research design, effective interventions for measurement, and the measurement


instruments that must be reliable and valid for accurate measurement of the effectiveness of interventions as well as desired outcomes for the participants in the research study. Research design is a critical but not overly complicated task that is essential for a successful study, regardless of the research outcome.

19.5 Research Questions The research design must be established to achieve the research questions before the study begins. Research questions can be stated in a directional or nondirectional format. With a directional research question, the researcher states that Intervention A will yield significantly better outcomes (i.e., posttest) than Intervention B or a control/comparison group. With a nondirectional research question, the researcher states only that there will be a difference between the two interventions, with no preference to either situation. In hypothesis testing, a variation on the nondirectional research question is the null hypothesis, which specifically states that there will be no significant difference between the intervention and control/comparison groups. The null hypothesis has been traditionally used in research studies and is still widely used, particularly in clinical trials research involving true experimental designs. However, a variety of educational and public health research projects have shifted to general and directional research questions that are more sensitive to research participants’ needs as well as exploratory studies designed to record novel, unpredicted behaviors. Along these lines, studies involving emergent properties of groups and systems have utilized mathematical models, which attempt to mirror actually recorded behaviors. The set of research questions that the researcher has set for the study determine how the research design will be established to answer the questions, how a proper population will be selected for sampling of participants, and how many participants (and in what proportions) will be assigned to experimental/intervention and control/comparison groups. Statistics and methods of analysis (described below) must match the research questions

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and design. There can be no adequate statistical “fix” for a poorly designed study. Furthermore, research questions need to state specific outcomes to be measured that line up with the specific aims/goals of the study. If a researcher hopes to assess if Intervention M improves educational outcomes (e.g., science standardized test scores, graduation rates, college attendance) for CSHCN, then they need to specifically state each outcome with its own research questions or null/directional hypothesis. This means that the researcher will pose the question, then design the research study where a comparison between two or more interventions can be made, adequate numbers of participants are available, and instruments are provided to participants in order to measure specific independent and dependent variables. The independent variable will be what is different between the various group treatments/interventions, whereas the outcome of the experiment, intervention, or treatment will be the dependent variable (i.e., what happens). Finally, many research studies utilize participants’ opinions on attitudes surveys as outcome, dependent variables, which may be fine for an attitudinal study; nevertheless, attitude responses are subject to substantial participant bias, responses based upon social desirability instead of actual opinions, and can seriously limit study interpretations if a concrete outcome objective is needed. If an intervention is designed to improve educational achievement, test scores, blood pressure, or resistance to disease, then specific measurements should be obtained with standardized instruments, not relying on what participants thought happened in the experiment.

19.6 Research Objectives for CSHCN For CSHCN, researchers can turn to public health, medical, and educational agencies for relevant outcomes that can improve the health and lives of CSHCN. One valuable source is Healthy People 2020 (HHS 2009), a set of US goals and objectives for the American population that builds upon a previous iteration of Healthy People 2010 objectives. Healthy People

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2010 and now 2020 objectives have been developed by the U.S. Department of Health and Human Services (HHS), U.S. Centers for Disease Control and Prevention (CDC) with the help of public forum input from state and local public health departments, physicians, other health professionals, educators, academics, service agencies for various populations, state and local tribal agencies, and advocacy groups. The Healthy People 2020 goals are designed to set baseline measures and 10-year improvement goals that improve the nation’s health. The CDC further works with the World Health Organization to translate these goals cross-nationally and culturally for use in improving global health across all countries. Healthy People 2020 (HHS 2009) objectives for CSHCN include maternal, infant, and child health objectives: “(1) reduce the rate of child deaths; (2) reduce deaths of adolescents and young adults; (7) reduce low birth weight and very low birth weight; (8) reduce preterm births; (9) increase the percentage of healthy full-term infants who are put down to sleep on their backs; (10) increase abstinence from alcohol, cigarettes, and illicit drugs among pregnant women; (11) reduce the occurrence of fetal alcohol syndrome; (13) increase the proportion of CSHCN who have access to a medical home; (14) increase the proportion of CSHCN who receive their care in family-centered, comprehensive, coordinated systems; (15) reduce fetal and infant deaths; (18) reduce the proportion of children diagnosed with a metabolic disorder through newborn screening who experience developmental delay requiring special education services; (19) decrease the proportion of children with cerebral palsy born as low birth weight infants (< 2,500 g); (20) reduce the occurrence of neural tube defects; (22) ensure appropriate newborn blood-spot screening and follow-up testing; (29) increase the 1-year survival rates for infants with Down syndrome; and (30) increase the percentage of young children with an Autism Spectrum Disorder (ASD) and other developmental delays who are screened, evaluated and enrolled in early intervention services in a timely manner.” Major data sources that the CDC will


use to evaluate national progress on these measures will include: National Vital Statistics System, National Hospital Discharge Survey, NIH/ NICHD National Infant Sleep Position Study, National Survey on Drug Use and Health, CDC Pregnancy Risk Assessment Monitoring System, CDC Fetal Alcohol Syndrome Surveillance Network, National Immunization Survey, National Birth Defect Prevention Network, National Newborn Screening and Genetic Resource Center, and the National Survey of Children with Special Health Care Needs (NS-CSHCN). Many of these data resources are described with greater detail in Horner-Johnson (see Chap. 16). Healthy People 2020 (HHS 2009) objectives also include disability and secondary conditions goals: “(1) include in the core of all relevant Healthy People 2020 surveillance instruments a standardized set of questions that identify ‘people with disabilities’; (2) reduce the proportion of children and adolescents with disabilities who are reported to be sad, unhappy, or depressed; (5) increase the proportion of children and youth with disabilities who spend at least 80 percent of their time in regular education programs; (6) increase the proportion of people with disabilities who report having access to health and wellness programs; and (11) reduce the proportion of people with disabilities who report unmet needs for assistive devices, service animals, technology services, and accessible technologies they need.” Major data sources for monitoring include the National Health Interview Survey and the National Survey of Children with Special Health Care Needs. Additional Healthy People 2020 objectives that impact CSHCN are found in many other sections of the goals (HHS 2009). The nature of the goals outlined above is clearly amenable to development for specific research questions and available databases. Unfortunately, many of the databases outlined above were not developed specifically with Healthy People 2010 and 2020 goals in mind. Consequently, a major limitation of secondary analyses of these (and other) databases to evaluate outcomes for CSHCN and other children with disabilities has been varied definitions of CSHCN and disability as well as con-


siderable variation in the types of variables that have been measured in the surveys/databases and the ways in which the data have been reported for variables. Consequently, many researchers try to work with advocacy groups for CSHCN and children with disabilities to recruit appropriate samples of participants for research studies. Such studies require careful development of research questions, interventions, measurements, and design that take into consideration human subjects and ethical considerations outlined above.

19.7 Validation of Measurement Instruments As described above, validity (Messick 1988) refers to the capacity of a measurement instrument to accurately measure what it purports to measure. Validity typically is used to describe psychometric instruments and tests, that is, lists of questions or statements to which study participants respond. Major types of validity include: (a) content, (b) criterion, and (c) construct validity. Ideally, measurement instruments should meet all three types of validity, although this result is not often achieved. Indeed, many studies are conducted with nonvalidated or poorly validated instruments, or the studies might report a Cronbach’s alpha value > 0.90, which is a strong measure of reliability, not validity (see above)! Content validity represents an assessment of instrument content, item by item, with conclusion that the items/questions collectively measure a specific domain of behaviors, attitudes, or knowledge (Crocker and Algina 1986; Messick 1988). Content validity, sometimes referred to as “face validity”, is usually determined by consensus agreement among a panel of experts who have extensive knowledge and training in measuring the psychometric construct for the instrument questions or items. Criterion validity involves correlating the psychometric instrument or test with a specific, definitive outcome. For example, a criterion-validated achievement test would highly correlate (e.g., r ∼ 0.80) with high grades for a randomly

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selected population of students. Thus, before being used in a study, the psychometric instrument or test must be given to students with results being statistically correlated with student grades and other academic performance measures. Criterion validity often is divided into Concurrent and Predictive validity. Concurrent validity compares a psychometric test with a comparable, accepted, and established test (e.g., Scholastic Aptitude Test and the ACT). Predictive validity compares psychometric test performance with subsequent performance (e.g., knowledge test vs. later grades). Construct validity, often considered the most robust validity measure, assesses how well a psychometric test and its items correlate with specifically stated psychometric domains and subdomains. The method of analysis involves factor analysis, which can be further elaborated with structural equation model (SEM). SEM evaluates a set of test results, item by item, versus a specified conceptual model of how the items relate to the psychometric domain and its subdomains. Comparable to validity, sensitivity, and specificity (Rothman and Greenland 1998; Swets et al. 2000) are epidemiological determinants of how well a diagnostic device, instrument, or procedure correctly predicts a given condition. These determinants can be applied to devices or psychometric instruments and are similar to Criterion validity in that a device or test is compared with a definitive, established measurement (e.g., a test of cancer vs. actual cancer occurrence). Sensitivity of a test is the ratio of the number of true positives (i.e., people with a given condition and detected by the test) divided by the combined number of true positives plus false negatives (i.e., people with the condition who are incorrectly tested as not having the condition). Therefore, sensitivity varies from 0 to 1 and for a good test should be close to 1. Conversely, specificity of a test is the ratio of true negatives (i.e., people without a given condition who are tested as such) divided by the combined number of true negatives plus false positives (i.e., people without the condition who are incorrectly tested as having

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the condition). Specificity also varies from 0 to 1 and for a good test should be close to 1. Together, sensitivity and specificity of a test can be calculated via a contingency table and graphed using a Receiver operating characteristic (ROC) curve (Swets et al. 2000): a steeper curve with greater area under the curve (AUC) versus a nonsignificant diagonal line (i.e., the test cannot detect the condition better than chance) indicates a strong test. Even so, “definitive” measures can be difficult to obtain, so Swets et al. (2000) recommend a triangulation approach with multiple tests to correlate with a definitive outcome measure.

19.8 Analytical Methods A variety of statistical approaches can be applied to quantitative and qualitative data collected from research studies. Quantitatively, if data for a given independent or dependent variable are scaled with a limited set of discrete responses (e.g., Yes-No, Agree-Disagree, Rating on a 1–7 scale), then nonparametric statistical analyses should be used. If the data for a given variable are continuous (e.g., no discrete values such as height, weight, blood pressure, blood serum levels of biochemicals, velocity), then parametric statistics can be used in the analysis. Discrete variables classified into categories can be compared on continuous variables using parametric statistics. A variety of statistical packages are available for researchers to analyze quantitative data. Among the most widely used statistical packages are Statistical Analysis System (SAS), marketed by the SAS Institute, Cary, NC; Statistical Package for the Social Sciences (SPSS) marketed by IBM/SPSS Inc., Chicago; Stata marketed by StataCorp, College Station, Texas; and the freeware “R”, distributed online by www.r-project. org. These packages can analyze basic and multivariate data with similar approaches. More advanced statistical packages are available for specialty topics (e.g., multilevel and structural equation modeling). Qualitative data can be analyzed for text content and language processing using software such as NVivo, marketed by QSR International, Melbourne, Australia.


Nonparametric statistical analyses include Chi-Square contingency table cross-tabulation analysis for single pairs of variables (e.g., independent and dependent variables). For multiple categories, Kruskal–Wallis analyses can be used. For ordinal data, the Mann–Whitney U test and Sign Tests can be used. Parametric statistical analyses include Student’s t test, which is the parametric counterpart of the chi-square test. For multiple categories of both independent and dependent variables, Analysis of Variance (ANOVA) and Multiple Analysis of Variance (MANOVA) can be used. Furthermore, unlike nonparametric statistics, confounders can be controlled as covariate variables via Analysis of Covariance (ANCOVA) and Multiple Analysis of Covariance (MANCOVA). For multiple predictors of single or multiple outcomes variables, multivariate regression can be used. Binomial or logistic regression can be used for nonparametric statistics. Many of these tests are complicated and bewildering to the novice, so researchers should have substantial training in research design and methodological analysis or have collaborators with such experience. The tests have a common grounding in statistical theory and are logically related. Besides the statistical analysis needed for the research study, there are many issues involved in preparing and weighting data for a proper analysis, based upon the sample characteristics. In addition, there are important considerations to evaluate when interpreting results. For example, is a “significant” result truly meaningful in terms of effect size difference and statistical power? For the latter, Cohen (1988) has prepared a valuable book of reference tables for interpreting results (and for setting up good experimental designs to start); SAS and SPSS have statistical power calculation modules that complement Cohen’s (1988) tables.

19.9 Examples of Research Studies and Analysis Research involving CSHCN has taken on many different forms over the past 20 years, so we have highlighted a very few samples that illustrate a small sampling of the diversity of methodologies


outlined above: (a) clinical trials, (b) secondary data analysis, (c) community-based study, and (d) ethnographic study.

19.9.1 Clinical Trials Example Though not many studies have employed the method of Randomized Clinical Trials (RCT) in studying the impact of shift in health services systems for CSHCN, few studies in the area of asthma care have utilized this method with some success. For example, an RCT study conducted by Lozano et al. (2004) reported improved outcomes for children with asthma among those with access to planned care services (nurse-mediated organizational change plus peer leader education) versus only peer leader education for physicians. The study was a three-arm cluster RCT design with three interventions: (a) peer leader education intervention; (b) planned care intervention with organizational change, including peer leader training; and (c) no intervention or usual care situation. The trial was conducted by randomly assigning 42 clinical practices spread across three states into the three study arms. As randomization was conducted at the unit above the actual unit of analysis—i.e., clinical group practices versus patients—the design is a cluster randomized design. Children in the planned care arm had highest levels of improvement in clinical care outcomes and were less likely to experience asthma symptoms per day compared with the children in the other arms. The intervention also improved overall functional health status of asthma patients in the two intervention arms compared with the control arm with treatment as usual (Lozano et al. 2004).

19.9.2 Secondary Data Analysis Strickland et al. (2004), conducted analysis of data using the National Survey of Children with Special Health Care Needs (NS-CSHCN)— a nation-wide representative sample survey conducted in 2001 to provide information on the prevalence of CSHCN in the United States and access to transition planning and availability of

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access to family-centered coordinated care to medical homes for CSHCN. This survey sample was based on another National Immunization Survey, conducted by the National Center for Health Statistics and households of this survey were administered a CSHCN screener questionnaire to identify eligible households for the interview. A minimum of 750 eligible households were interviewed per state in the United States for the NS-CSCHN. In their analysis, Strickland et al. (2004) developed criteria assessing access to medical home by combining the responses to the survey items reflecting access to: (a) usual source of medical care; (b) personal physician and/or nurse; (c) referral services for specialty care, if needed; (d) care coordination; and (e) familycentered care. Individuals providing affirmative responses to all of these items were considered to have access to medical home and those responding negatively to one or more items were considered not having access to medical home in accordance with the American Academy of Pediatrics (AAP) policy statement on Medical Home (AAP 2002). Using logistic regression analysis, the authors reported that only 53% of CSHCN had access to medical home and those who did not have access to medical home were two times more likely to experience delayed or forgone care, have unmet health care needs, and three times more likely to have unmet family support services in comparison to those having access to medical home as defined within the survey. Also, as expected, the sociodemographic variables of poverty and racial minority status continued to further disadvantage CSHCN who did not have access to medical homes compared with those who did. Chen and Newacheck (2006) also analyzed the NS-CSHCN data sets to study the impact of health insurance coverage on financial burden to the family of children with CSHCN. Overall, onethird of families indicated a substantial impact on family finances due to special needs for the child with special health care needs and having access to uninterrupted insurance coverage for CSHCN significantly reduced the impact on their finances. Nageswaran (2009) further highlighted unmet respite care needs for CSHCN, where nearly one

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quarter of those CSHCN needing respite care never received such services. Her analysis further highlighted the needs for empowering caregivers of CSHCN with complex conditions for improving access to such services. Some other examples of research studies utilizing secondary data sets include a study conducted by Boulet et al. (2009) using data from the National Health Interview Study, to examine the prevalence of functional limitations and service use among a subpopulation of CSHCN. Furthermore, Newacheck and Kim (2005) utilized data from the Medical Expenditure Panel Survey (MEPS) to develop national estimates on health care costs for providing care to CSHCN. Though a detailed discussion of these data sources is out of scope for this chapter, readers are encouraged to visit resources to become acquainted with different sampling methods, and screening instruments utilized in these surveys as this discussion was for illustration of use of secondary data sets in research pertaining to CSHCN. Secondary data sets have also been used in cases for evaluating impact of program interventions. For example, Casey et al. (2011) used hospital record data and linked them to state Medicaid data to study the impact of medical home programs providing coordinated care on average costs of services for CSHCN in Arkansas. They identified that average per patient per month cost for those in intervention group reduced by US$ 1,179 compared with the group of CSHCN who did not have access to medical home programs.

19.9.3 Community-Based Study Lotstein et al. (2008) conducted a communitybased study surveying CSHCN who graduated from the federal Title V program of Social Security Act that provides access to health care and financial supports for CSHCN via communitybased special centers. The study was primarily conducted to understand the transition to adult care system for CSHCN who graduate from these programs and identify gaps in care for health care services. Seventy-one program graduates were interviewed to study outcomes across the four


domains of: (a) continuity in age- and conditionappropriate care, (b) access to health insurance, (c) development of self-care management skills, and (d) access to vocational and education services. Only one-third of graduates from the Title V program were enrolled in Medicaid, while most did not have continuing source of coverage of health care expenses despite persistent need for services. In addition, among those who had health insurance, about one-third had delayed or forgone necessary care services, indicating the need to connect these young people to usual source of care in addition to enhancing their access to health insurance.

19.9.4 Ethnographic Study One of the important studies applying ethnographic principles was conducted by Reiss et al. (2005) that looked at understanding transition to adulthood experiences of CSHCN and their families, as well as identifying factors that facilitate or pose barriers in transition to adult health care system for CSHCN. The authors conducted 34 focus group discussions and interviews with CSHCN, their family members, and health care providers. All the focus groups’ data were transcribed verbatim and accuracy of transcript was checked by two reviewers. Data from this qualitative study were then analyzed using ATLAS.ti software to identify cross-cutting themes across these interviews. Some of the findings from their research highlighted great need for careful planning and understanding of developmental stages of transition to adulthood for CSHCN and exposed some of the systematic barriers in public health insurance systems. This study also emphasized on needs to provide skills for CSHCN in the area of self-management and self-advocacy as they transition into their adult lives. Gannotti et al. (2004) conducted ethnographic study to understand the influence of cultural values on understanding the unmet health care needs of Latino and Euro-American families with CSHCN. Their detailed analysis highlighted important differences between the Latino and Euro-American families’ expectations in the


area of respite care and role of professionals involved in care. Latino families neither understood nor expressed the need for respite care and expressed their concerns for leaving their child under the care of someone else. Also, these families believed that responsibility of coordinating care lied in the hands of professionals working with CSHCN. On the contrary, Euro-American families valued respite care for the purposes of their socialization and were highly engaged in ensuring care coordination for their CSHCN. In addition, their analysis also highlighted differences among providers’ views and their barriers in providing services to these families. For instance, few providers helping Latino families indicated an “overuse” of their services and higher expectations beyond their institutional realms. Differences were also observed where more Latino families indicated unmet needs in the areas of unresolved health care problem, rehabilitation therapy, or need for information or support groups, whereas the Euro-American families generally cited unmet needs in the areas of respite care services, lack of daily care services, recreational program, and home health aide. This study uniquely studied the difference in the Latino and Euro-American cultures in understanding their unmet needs and echoed the need for greater cultural sensitivity and innovate approaches in service delivery systems for CSHCN.

19.10 Summary Research to improve the health and quality of life of CSHCN requires careful development of appropriate research questions, a rigorous research design, provisions for protection of CSHCN and their families, consent and open communication on all aspects of the study for CSHCN and their families, and statistical analyses that match the research design. One important component of the research study is to have an advisory board consisting of knowledgeable scientists, policy makers, advocates for CSHCN, and persons with disabilities; the advisory board can help guide the study and its potential benefits for CSHCN. Ethical research studies can greatly assist disabil-

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ity researchers and policy makers to provide improved educational, assistive device, and health services for children with disabilities so that they can have high quality of life and opportunities for optimal childhood and lifelong experiences.

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Addressing Bullying Among Students with Disabilities Within a Multi-Tier Educational Environment

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Chad A. Rose, Stephen Allison, and Cynthia G. Simpson

Abstract

One of the most pervasive, yet neglected, problems impeding the socialemotional development of school-aged children is bully perpetration and victimization. Bullying has been linked to detrimental long- and shortterm outcomes, ranging from academic deficits and school avoidance to difficulties with depression, anxiety, psychosomatic symptoms, and social relationships for victims. In this chapter, we outline the social and health dynamics impacting children with special health care needs (CSHCN) who experience bullying as well as effective interventions that develop support mechanisms for CSHCN with the involvement of teachers, peers, and parents. It is unclear exactly how to best involve parents of children with disabilities in effective tertiary interventions. Antibullying programs for families are at an early stage of development and multicomponent family interventions deserve further attention. Abbreviations

CSHCN Children with Special Health Care Needs IDEIA Individuals with Disabilities Education Improvement Act of 2004 C. A. Rose () Department of Language, Literacy and Special Populations, Sam Houston State University, Box 2119, Huntsville, TX 77341, USA e-mail: [email protected] S. Allison Flinders University Medical Centre, Southern Adelaide Health Service, GPO Box 2100, Adelaide, SA 5001, Australia e-mail: [email protected]; [email protected] C. G. Simpson Department of Language, Literacy and Special Populations, Sam Houston State University, Box 2119, Huntsville, TX 77341, USA e-mail: [email protected] D. Hollar (ed.), Handbook of Children with Special Health Care Needs, DOI 10.1007/978-1-4614-2335-5_20, © Springer Science+Business Media New York 2012

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NCLB No Child Left Behind PBS Positive Behavior Supports RtI Response to Intervention

20.1 Introduction While the educational landscape continues to evolve in order to meet the diverse learning needs of an ever-changing student body, high-stakes academic testing is still used as the central measure of student achievement and school success. For example, in the United States, federal legislation places a strong emphasis on teacher accountability (No Child Left Behind Act NCLB 2001), where teacher efficacy is primarily gauged by student performance on standardized assessments (Fleming et al. 2005; Rose et al. 2009). In terms of measurable outcomes, the current discourse tends to emphasize academic attainment over social-emotional learning (Gregory et al. 2010). However, educational outcomes and social-emotional development are fundamentally linked (DeRosier and Mercer 2009), thereby necessitating increased attention to multifaceted pedagogical approaches (Adelman and Taylor 2000; Zins et al. 2004).

20.2 Bully Perpetration and Victimization One of the most pervasive, yet neglected, problems impeding the social-emotional development of school-aged children is bully perpetration and victimization (Swearer et al. 2010). When bullying is investigated holistically, and consideration is given the active participants (i.e., bully, victim) and passive stakeholders, who serve as social reinforcers (e.g., bystanders), research suggests that bullying encompasses the overwhelming majority of the school population (Espelage et al. 2000). Unfortunately, direct involvement within the bullying dynamic has been linked to detrimental long- and short-term outcomes, ranging from academic deficits and school avoidance to difficulties with depression, anxiety, psychoso-

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matic symptoms and social relationships for victims, and externalizing behaviors problems for perpetrators (see Swearer et al. 2010). Adults who were bullied at school continue to report poorer mental and physical health (Allison et al. 2009). In addition, bullying has received high-profile attention because involvement has been linked to suicidal ideation (Herba et al. 2008; KaltialaHeino et al. 1999; Kim et al. 2005, Rigby and Slee 1999; Roeger et al. 2010) and school violence (Vossekuil et al. 2002). Given the potential severity and enduring nature of these outcomes, it is essential to understand the complexities associated with the bullying dynamic.

20.3 Theoretical Framework “Bullying/victimization does not occur in isolation and, in fact, results as a complex interaction between the individual and his or her family, peer group, school community, and societal norms” (Swearer et al. 2009, pp. 7–8). In an effort to understand specific situations involved in the bullying dynamic, one must realize that the relationship between the bully and the victim is not dichotomous. Several external and internal factors contribute to the overall dynamic. Espelage and Swearer (2004) and Swearer et al. (2006) examined the basic framework of Bronfenbrenner’s (1977, 1979, 1986) Social-Ecological Model of Child Development and extended the model to include predictive factors associated with bully perpetration and victimization. Within the original foundational framework, Bronfenbrenner’s (1977, 1979, 1986) Social-Ecological Model of Child Development included five distinct domains: Microsystems, Mesosystems, Exosystems, Macrosystems, and Chronosystems (see Table 20.1; Bronfenbrenner 1977, 1979, 1986). Espelage and Swearer’s (2004) extension of the model, the Social-Ecological Framework for Bullying/Victimization, incorporates five social-ecological domains (i.e., individual factors, familial factors, school and peer group factors, community factors, societal factors) that coincide with Bronfenbrenner’s model as identified in Table 20.2.

20 Addressing Bullying Among Students with Disabilities Within a Multi-Tier Educational Environment

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Table 20.1 Bronfenbrenner’s social-ecological model of child development. (Adapted from Rose 2010b, p. 17) System Microsystema

Definition A microsystem is the complex of relations between the developing person and environment in an immediate setting containing that person Mesosystema A mesosystem comprises the interrelations among major settings containing the developing person at a particular point in his or her life Exosystema An exosystem is an extension of the mesosystem embracing other specific social structures, both formal and informal, that do not themselves contain the developing person but impinge upon or encompass the immediate settings in which that person is found, and thereby influence, delimit, or even determine what goes on there Macrosystema A macrosystem refers to the overarching institutional patterns of the culture or subculture, such as the economic, social, educational, legal, and political systems, of which micro-, meso-, and exo-systems are the concrete manifestations Chronosystemb A chronosystem refers to the influence on the individual’s development of changes over time in the environment in which the person is living a Refers to excerpts from pp. 514–515 of Bronfenbrenner’s 1977 article b Refers to excerpts from p. 724 of Bronfenbrenner’s 1986 article Table 20.2 Espelage and Swearer’s social-ecological framework for bullying/victimization (2004) factors defined Social-ecological Definition factors Individual factors Intrapersonal factors such as depression, anxiety, and impulsivity Family factors Interpersonal relationships between the individual and his/ her immediate family members Peer group and School climate and interpersonal school factors relationships between the individual and his/her peers, teachers, and other school personnel Community Community resources, neighborfactors hood influences, and schoolcommunity partnerships Societal factors Global influences such as media and popular culture

“Theoretically, an infinite number of variables can influence the interactions between the individual and each subsequent factor grouping within the Social-Ecological Framework for Bullying/Victimization” (see Fig. 20.1; Espelage and Swearer 2004; in Rose 2010b, p. 18). Based on the Social-Ecological Framework for Bullying/Victimization, it is clear that students maintain experiential differences associated with individual characteristics, family attributes, educational dexterity, peer group membership, and community/society influences. While it has been suggested that the overwhelming majority

of the school-aged population is involved in the bullying dynamic (Espelage et al. 2000) and the negative outcomes maintain short- and long-term consequences (Swearer et al. 2010), it is conceivable that some subpopulations are more at risk for involvement based on discrepancies in the social-ecological model (Rose 2010a). For example, students with disabilities receive added academic or functional supports in the educational environment, which by definition separates them from their typically developing peers (Rose et al. 2011).

20.4 Bullying Among Students with Disabilities As stated previously, bullying is a social construct that is based on complex interactions between the individual and social-ecological factors (Swearer et al. 2009). However, theoreticians and researchers have attempted to operationalize the definition of bullying and the roles associated with student involvement. While bullying definitions vary considerably as a consequence of empirical examination (Miller et al. 1998), most definitions directly or indirectly refer to Olweus’ (1993, 1995) conceptualization of the phenomenon. Based on Olweus’ definition, bullying is defined as repeated aggression with an imbalance of power and intent to cause harm, which maintains unequal levels of affect between the bully

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Fig. 20.1 Espelage and Swearer’s (2004) socialecological framework for bullying/victimization. (Adapted from Rose 2010b, p. 18)

and victim (Olweus 1993, 1995; see Rose et al. 2011). Specifically, three key aspects of bullying are the imbalance of power, intentionality of the acts, and the repetition over time (Orpinas and Horne 2006). However, Olweus (2003) and Ross (2003) agree that a single incident can be construed as bullying. While there is disparity among definitions, the characteristics outlined by Olweus demonstrate the social nature of the bullying phenomenon. In addition to the operationalization of bullying, consideration must be given to the continuum of roles associated with participation and reinforcement. While the act of bullying must include the perpetrator(s) and victim(s), characteristics associated with these individuals may vary. According to Olweus (1993), perpetrators may be characterized as aggressive bullies, passive bullies (plays a supporting role), or anxious bully (adopts bullying behaviors to combat victimization). Similarly, victims may be classified as passive victims or bully-victims, where the passive victim does not aggress or act out toward the perpetrator, and the bully-victim adopts bullying characteristics to avoid further victimization (similar to the anxious bully; Olweus 1993, 2003). Bystanders, however, reinforce this dynamic between the bully and victim, who may serve as supporters of the bully or defenders of the victim (Olweus 2003; Salmivalli et al. 1996). Interestingly, Swearer et al. (2009) suggested that these roles are not static, and students may move in and out of participatory roles, especially during times of transition.

20.5 General Pervasiveness of Bullying The phenomenon of bullying has been the subject of empirical exploration for decades, and the pervasiveness of the phenomenon has been documented worldwide. In the United States, a sharp increase in bullying research resulted from the outcomes of the Safe School Initiative (Swearer et al. 2009; Vossekuil et al. 2002). This collaboration between the US Secret Service and the Department of Education was prompted by the untimely deaths of 15 individuals at Columbine High School in Jefferson County, Colorado. The goal of this initiative was to examine the planning and preattack thoughts and behaviors of US school shooters, to develop a concrete perpetrator profile. While a clear profile was not established, it was determined that 71% of the school shooters from 1974 to 2000 experienced some level of peer victimization (Rose et al. 2011; Vossekuil et al. 2002). Following the initial results of the Safe School Initiative, Nansel et al. (2001) conducted an investigation that was representative of the US school-aged population, and determined that approximately 30% of school-aged youth are involved in the bullying dynamic as perpetrators, victims, or bully-victims. Recent reports from the National Center for Educational Statistics determined that 32% of students aged 12–18 years experienced some level of victimization at school during the 2007–2008 academic year (Robers et al. 2010). While current research suggests that


approximately one-third of the student population is directly involved in the bullying dynamic, a growing body literature is beginning to explore characteristic difference (e.g., gender, ethnicity) among the various bullying participant roles. In addition, research also suggests that “children with disabilities are at least twice as likely to be bullied than their non-disabled peers” (Marini et al. 2001, p. 175) and the “effects of bullying may linger long into the victims adulthood” (San Antonio and Salzfass 2007, p. 32). Within the last 10 years, a vast amount of research has been conducted examining the relationship between gender and bullying with gender dichotomy influencing the perceptions of aggression and bullying (Espelage et al. 2004; Swearer 2008). In much of the literature, males are identified as the disproportionate population of bullies and victims (Nansel et al. 2001; Olweus 1993; Ostrov and Keating 2004; Seals and Young 2003). This particular evidence of disproportionality between males and females led several researchers to make a distinction in specific types of bullying (direct and indirect aggression). Direct bullying refers to the physical and verbal acts such as, hitting, kicking, poking, pushing, teasing, name calling, or taunting. Indirect bullying appears in ways such as, spreading rumors, manipulating friendships, or causing social exclusion. Interestingly, Card et al. (2008) reported that males are more directly aggressive, but relational aggressing was equally proportionate among males and females. In addition to gender, racial subgroups have become an immediate focus in the bullying literature, especially the discrepancies in involvement among subgroups such as African Americans and European Americans. The findings of such studies revealed that African Americans were less likely to be victimized than European Americans (Nansel et al. 2001) In addition to comparisons of racial subgroups to determine higher levels of victims, Wang et al. (2009) reported that AfricanAmerican adolescents were more likely to be perpetrators, and less likely to be victimized when compared with other racial groups. Discrepancies in academic outcomes (Booker 2006; Wong et al. 2003), exposure to racial discrimination

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(Prelow et al. 2004; Seaton 2009), and questionable peer associations (Holt and Espelage 2007) may partially account for the documented group discrepancies (Rose 2010b).

20.6 Pervasiveness of Bullying Among Students with Disabilities While gender and ethnicity have become common considerations in the bullying dynamic, the interplay between special education status and involvement in bullying has been sparsely investigated. Conceivably, this lack of attention may be due to the continuum of special education services provided to students who qualify for these academic, functional, or medical accommodations. When investigating the involvement of students with disabilities, the complexities are threefold. First, consideration must be given to disability label, and precautions must be taken to avoid creating a dichotomy (i.e., presence or absence of a disability) or creating arbitrary groupings (e.g., observable and unobservable disabilities). Second, consideration must be given to class placement and level of special education services, because these services are fundamentally different from students without disabilities. Finally, consideration must be given to the intersection of services and disability labels, because this intersection is the primary identifier of protective factors for students with various disabilities (Rose 2010a).

20.6.1 Disability Labels When disability status is considered a dichotomy, evidence suggests that students with disabilities are victims (Kaukiainen et al. 2002; Monchy et al. 2004; Nabuzoka and Smith 1993) and perpetrators (Dawkins 1996; Kumpulainen et al. 2001; Rose et al. 2009; Woods and Wolke 2004) twice as often as their peers without disabilities. In addition, early foundational research from Dawkins (1996) suggested that students with observable disabilities are victimized significantly

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more than students with unobservable disabilities. However, these dichotomous distinctions may misrepresent the subpopulation of students with disabilities because disability status falls upon a continuum, and the global characterization of disability actually refers to 13 different categories with distinctive identification procedures, characteristics, and service needs (Rose 2010a; Smith 2007). While few studies have explored the intersection of disability labels and participation in the bullying dynamic, the existing evidences suggest that some disability categories may be overrepresented as bullies, while others may be overrepresented as victims. Although avoiding arbitrary groupings of students with disabilities is critical to understanding the complexities of bullying among this marginalized student population, foundational research has suggested that the observability or severity of the disability may predict levels of involvement (Dawkins 1996; Whitney et al. 1994). For example, students with physical disabilities, hearing impairments, and language impairments are two to four times as likely to be victimized when compared with their peers without disabilities (Davis et al. 2002; Knox and Conti-Ramsden 2003; Sweeting and West 2001; Whitney et al. 1994), and as many as 90% of students with autism have reported some level of victimization (Little 2002). However, students identified with high incidence disabilities (e.g., learning disabilities, emotional/behavioral disorder) engage in significantly higher levels of perpetration when compared with their peers without disabilities (Kaukiainen et al. 2002; Monchy et al. 2004; Van Cleave and Davis 2006; Whitney et al. 1994), and students with more significant disabilities engage in lower levels of perpetration when compared with students with less significant disabilities and their peer group without disabilities (Sheard et al. 2001). Based on existing literature, an inverse relationship seems to exist among students with disabilities, where students with more significant disabilities experience higher levels of victimization and students with less significant disabilities engage in higher levels of perpetration when compared with their same-aged peer group.

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20.6.2 Educational Services Similar to disability status, educational accommodations available for students with disabilities fall upon a service continuum (IDEIA 2004) as defined by the student’s least restrictive environment (Smith 2007). Environments and accommodations available to students with disabilities are generally discussed in terms of access to the general curriculum, where students may receive services in inclusive or segregated settings (Rose 2010a). While these services are necessary for functional or academic success, they serve as a fundamental difference between students with and without disabilities because the overt nature of the services or placements may unnecessarily identify students’ deficits and place them at greater risk for victimization. Although existing literature has explored bullying in terms of inclusive and restrictive settings, these classifications may be an oversimplification of placements available to students with disabilities (Rose 2010a). With the general understanding that services available to students with disabilities are based on the student’s least restrictive environment, research suggests that an involvement discrepancy exists between students in inclusive and restrictive settings. For example, students who receive high levels of academic support or receive educational services in a more restrictive environment report significantly higher rates of victimization (Martlew and Hodson 1991; Morrison et al. 1994; O’Moore and Hillery 1989; Sabornie 1994; Whitney et al. 1994) and engage in higher levels of perpetration (O’Moore and Hillery 1989; Rose et al. 2011) when compared with their peers who receive services in an inclusive environment and peers without disabilities. Unfortunately, dearth of literature associated with the intersection of services and bullying involvement makes it difficult to ascertain whether class placement or severity of the disability serves as a predictor for increased victimization and perpetration (Rose 2010a).


20.6.3 Intersection Between Disability Label and Educational Services While it has been documented that disability labels and educational services can serve as independent predictors of involvement in the bullying dynamic for students with disabilities, the intersection between these factors has been sparsely investigated. The overarching concern is fundamentally linked to the social-ecological framework, where bully involvement is based on complex interactions between individual characteristics and external social influences, such as class placement (Swearer et al. 2009). It is conceivable that a reciprocal relationship exists between disability status and class placement, where both factors serve as equal predictors (Rose 2010a). However, research suggests that students with more significant disabilities (Davis et al. 2002; Dawkins 1996; Knox and Conti-Ramsden 2003; Little 2002; Sweeting and West 2001; Whitney et al. 1994), and students in more restrictive settings (Martlew and Hodson 1991; Morrison et al. 1994; O’Moore and Hillery 1989; Sabornie 1994; Whitney et al. 1994) report higher levels of involvement when compared with their peers without disabilities. The complexities arise when consideration is given to both factors, because students with more significant disabilities often receive services in more restrictive environments. Although this issue is quite complex, the social-ecological framework suggests that consideration is given to both individual characteristics and influential social-ecological factors (Swearer et al. 2009). Based on previous research, it is evident that students with disabilities may possess at-risk characteristics that increase their likelihood of involvement, and the educational environment may serve as a predictive or protective factor. Therefore, bully prevention efforts for students with disabilities should have multiple components that attend to the school environment and include targeted interventions that address the at-risk subpopulations of students, classroom variables, and individual student characteristics.

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20.7 Multicomponent Bully Prevention Programs for Students with Disabilities Current educational trends are placing a strong emphasis on multicomponent programs such as Response to Intervention (RtI; Batsche et al. 2005; Sugai and Horner 2009) and Positive Behavior Supports (PBS; Bambara and Kern 2005; Ross and Horner 2009; Sugai and Horner 2009). While these initiatives stem from the field of special education, they are designed to address the academic and behavioral outcomes of the entire student population (Sugai and Horner 2009). Commonly, RtI and PBS situates intervention efforts within a three-tier framework, where the primary tier serves as the school-wide intervention program and address 80–85% of the student population, the secondary tier addresses at-risk subpopulations of students and serves 10–15% of the student population, and the tertiary tier addresses the 1–5% of students who do not respond to primary or secondary interventions through individualized intervention efforts (Bambara and Kern 2005; Batsche et al. 2005). While the tiered structure is fundamental to the continuum of services provided within the multicomponent framework, intervention efforts are grounded in scientifically based research, utilize data-based decision making to maintain the fluidity between the tiers, and employ systematic screening on a regular basis for evaluating performance and outcomes (Fuchs 2003; Sugai and Horner 2009). In addition, these multicomponent intervention efforts parallel the social-ecological framework because they directly address school-wide, classroom, nonclassroom, family, and individual student factors (Sugai and Horner 2009). Given the structure of these multicomponent programs, it is conceivable to believe that bully prevention efforts could be situated within a similar framework (see Fig. 20.2). More specifically, whole-school intervention programs would be situated within the primary tier, strategies for addressing at-risk subpopulations would be situated within the secondary tier, and individualized interventions for chronic bullies and victims would be situated within the tertiary tier. Since it

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Fig. 20.2 Intervention samples embedded in a multicomponent model

has been documented that students with disabilities are at a higher risk for increased involvement within the bullying dynamic, a multicomponent bully prevention program could serve as an effective strategy for reducing bullying among this at-risk subpopulation of students. However, it should be noted that the existence of a multicomponent behavioral or academic structure does not necessarily address the prevalence of bullying among the school-aged population because consideration must be given both to the victim and perpetrator (Rose and Monda-Amaya 2011). In addition, it is important to note that effective intervention programs involve multidisciplinary support. Administrators can provide support in areas such as policy development, enforcement, and level of support and commitment needed to ensure the success of the intervention (GarciaBiggs et al. 2010). Such support can include the “implementation of a zero tolerance policy for bullying within school limits and support through classroom visits and private meetings as needed” (Garcia-Biggs et al. 2009, p. 41).

20.8 Primary Prevention Efforts Bully prevention programs at the primary level are designed to increase awareness and decrease the prevalence of bullying among the entire stu-

dent population (Swearer et al. 2009; Swearer et al. 2010). Initially, a school climate assessment should be conducted and school-specific data should be collected to discern the existing level of bullying within the school environment (Swearer et al. 2009). Intervention efforts should include increased monitoring in high-risk areas, classroom awareness activities to confront supportive attitudes, teacher awareness and intervention training, and allowing students to be active stakeholder in intervention efforts (Rose and Monda-Amaya 2011; Swearer et al. 2009). However, the success of these programs is contingent on many factors, including rapport development efficiency of the teacher, identification competence, and pedagogical dexterity (Konishi et al. 2010; Swearer et al. 2009; Ttofi et al. 2008). When examining commercial bullying prevention programs, a discrepancy exists between their effectiveness. For example, when data were collected on teachers who participated in Bully Busters, a commercial bully prevention program, results suggested that the teachers’ beliefs in their competence in preventing bullying, intervening with the bully, assisting the victim, and increasing student awareness were changed (NewmanCarlson and Horne 2004). Unfortunately, many school-wide prevention efforts have produced less than desirable results (Swearer et al. 2010). “In a recent meta-analytic report to the Swedish


National Council for Crime Prevention, Ttofi et al. (2008) reported that bullying and victimization were reduced by 17–23% when anti-bullying programs were implemented in schools. This reduction is associated with programs that include structured school environments and collaborative teacher, students, and parent relationships (Ttofi et al. 2008). Merrell et al. (2008) found that about one-third of anti-bullying programs produced clinically positive effects, and believed these interventions increased awareness, knowledge, and self-perceived competency in dealing with bullying.” (Rose 2010b, p. 135).

20.9 Secondary-Tier Interventions While primary-tier interventions are designed to address the entire student body, secondarytier interventions are designed to address at-risk subpopulations of students. These interventions are grounded in a teacher’s ability to identify participants within the bullying dynamic. Unfortunately, current research suggests that teachers are often inefficient at identifying bullies and victims (Huesmann et al. 1994; Leff et al. 1999), and underestimate the prevalence of bullying within their classrooms (Bradshaw et al. 2007) when compared with student nominations. Therefore, teachers must improve their efficacy in identifying active and passive participants within the bullying dynamic. Although teacher support is essential for the behavioral and functional success of their students, classroom structure can serve as a secondary-tier intervention for students with disabilities. In general, creating and maintaining a structured classroom with clear rules and expectations may serve as a preventative measure for decreased bullying and victimization (Sugai and Horner 2002). For example, systematic inclusive practices can serve as a protective factor against perpetration by and victimization of students with disabilities. Effective inclusive practices, where students are fully integrated into peer groups, allow students with disabilities to learn, practice, and validate social skills among their same-age peer group (Mishna 2003) through

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consciously structured learning groups. In addition, inclusive settings may serve as a protective factor through the utilization of positive behavior modeling, increased social skills acquisition (Brown et al. 1989), increased self-confidence through active participation (Sabornie 1994), and a reduction of negative stereotypes from students without disabilities (Martlew and Hodson 1991). Overall, conscious structuring of the educational environment that recognizes the diverse needs of students may serve to increase awareness and acceptance among students without disabilities, foster a sense of belonging among students with disabilities, and allow students to be active stakeholders in bully prevention efforts (Meadan and Monda-Amaya 2008; Rose and Monda-Amaya 2011). Since bullying is a social construct, the development of social skills is essential for students with disabilities. As a secondary-tier intervention, teachers should consider embedding social skills training within their daily curriculum. Fundamentally, lessons and peer groupings should be universally designed to proactively address potential problems within the educational environment (Dymond et al. 2006; Spooner et al. 2007). In addition, teachers must frequently assess the group dynamics within their classroom and construct social groupings that are not subject to escalated isolation of individual students and increase the likelihood of positive behavioral modeling (Meadan and Monda-Amaya 2008). Social skills can also be fostered through evidence-based practices such as differentiated instruction, where students are provided with choices (Hall et al. 2003) to decrease the peer perception of teacher dependence. Overall, research suggests that resiliency among students with disabilities may be attributed to age-appropriate social skills, positive self-concept, independence, quality social relationships, and active school participation (Flynt and Morton 2004; Kumpulainen et al. 1998; Martlew and Hodson 1991; Mishna 2003; Whitney et al. 1994), which can be fostered by secondary-tier interventions.

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20.10 Tertiary-Tier Interventions Due to the complexity of the bullying dynamic, structured classrooms and quality whole-school interventions may not completely eliminate involvement among students with disabilities (Rose and Monda-Amaya 2011). As a function of the disability characteristics, students who receive special education services may require targeted interventions to address their overrepresentation within the bullying dynamic. Unfortunately, students with disabilities often lack age-appropriate social skills (Baker and Donelly 2001; Doren et al. 1996; Kaukiainen et al. 2002; Llewellyn 2000; Woods and Wolke 2004), which may prevent the assimilation into social groups, increase perceptions of dependence, and increase the likelihood of involvement within the bullying dynamic (Baker and Donelly 2001; Llewellyn 2000; Martlew and Hodson 1991; Morrison et al. 1994; Nabuzoka and Smith 1993). Given this lack of social skills, targeted interventions must directly shape existing social behaviors or teach new skills that are age-appropriate and socially acceptable. Unfortunately, social skills represent a broad range of behaviors and a functional assessment may be necessary to determine current levels of social functioning (Rose and Monda-Amaya 2011). Students with disabilities who are chronic victims may reinforce repeated perpetration because they appear passive or timid when confronted with a bullying situation (Sabornie 1994). Teachers of students who exhibit these timid responses must help their students develop a sense of independence and foster self-determination, where they embrace their personal abilities and are aware of their fundamental values (Wehmeyer et al. 2004). Chronic victims with disabilities may also have social information processing deficits (Crick and Dodge 1994, 1996; Dodge et al. 2003) where they misread or misinterpret situations that may not constitute bullying (Sabornie 1994), or they consistently fail to avoid situations that place them at risk for increased victimization (Nabuzoka 2003). Direct social skills instruction through role play, problem-solving vignettes, conflict-resolution strategies, and effective peer

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group communication techniques may support the development of age-appropriate social skills (Meadan and Monda-Amaya 2008). This general lack of social skills may account for the overrepresentation of students with disabilities identified as chronic perpetrators. Similar to victims, chronic perpetrators with disabilities may possess social information processing deficits (Crick and Dodge 1994, 1996; Dodge et al. 2003), where they misinterpret social communication by responding aggressively to nonthreatening stimuli (Nabuzoka and Smith 1999; Sabornie 1994). However, behavior is both functional and communicative, and bullying behaviors among students with disabilities are often learned behaviors that are adopted as a method of avoiding prolonged exposure to victimization (Rose et al. 2011). Therefore, the functionality of these behaviors should be assessed through a functional behavior assessment that directly evaluates the establishing operations, discriminative stimuli, behavioral responses, and reinforcing stimuli (Bambara and Kern 2005; Cooper et al. 2007). By understanding the functionality of the bullying behaviors, teachers can create an intervention package that neutralizes the establishing operation, eradicates the antecedent, and increases social skills through replacement or competing behaviors while systematically reinforcing the socially appropriate behaviors (Bambara and Kern 2005; Cooper et al. 2007; Rose and MondaAmaya 2011). It is unclear exactly how to best involve parents of children with disabilities in effective tertiary interventions. Antibullying programs for families are at an early stage of development and multicomponent family interventions deserve further attention (Powell and Ladd 2010). Parents have a crucial role in protecting children from aggressive behavior, promoting resilience, and engaging as partners in school programs. They are natural child advocates and educational authorities charge them with responsibility for responding to their child’s victimization. The first step is for parents to be aware of the potential problem of school bullying and look for the unspoken signs that their child could be victimized. Once the problem is identified, parents are able


to support their child emotionally and to notify the school for the development of an antibullying plan. Early awareness places the parents in a better position to take effective action. Regular teacher–parent meetings have been shown to augment the effectiveness of antibullying programs and decrease rates of peer victimization in schools (Ttofi and Farrington 2011). Importantly, positive family environments with supportive family relationships and positive parenting are known to buffer against the social-emotional impact of victimization (Bowes et al. 2010). In making partnerships with parents, teachers can be informed by the experiences and attitudes that parents bring to potential antibullying interventions. Opinions about bullying begin to form in childhood with the parent’s own early educational experiences. Parents with past histories of school bullying are primed to recognize the difficulties and have twice the likelihood of reporting their child as victimized (Roeger et al. 2011). However, they can have subsequent problems helping their children deal with victimization (Smith and Myron-Wilson 1998). Experiences with childhood bullying are linked with unresolved distress in adulthood and social skill deficits for parents (Schäfer et al. 2004). These parental issues can be accentuated when their children encounter school bullying and this reduces the parents’ ability to encourage their children’s peer relationships and assist them to find ways to cope with harassment. This developmental challenge can interact with the stress associated with parenting children who have disabilities. Families with a combination of intergenerational bullying victimization and high parental distress could benefit from family-based interventions.

20.11 Summary Over the past two decades, the prevalence of bully perpetration and victimization has increased worldwide, emerging as one of the most signification behavioral issues facing schoolaged youth (Olweus 2003; Rose et al. 2011; Espelage and Swearer 2004). While most research has been conducted in a whole-school context,

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marginalized student populations may be at a higher risk for involvement within the bullying dynamic. Specifically, students with disabilities report higher levels of perpetration and victimization when compared with their peers without disabilities (see Rose et al. 2011). However, consideration must be given to disability characteristics and labels, class placement and special education services, and the intersection between disability labels and special education services. Since students with disabilities are overrepresented as bullies and victims, intervention efforts should be multifaceted, and include a school-wide antibullying policy/program, group interventions for at-risk subpopulations of students, and targeted interventions for chronic bullies and victims. Above all, bullying is an issue that directly affects the majority of school-aged children, and teachers, administrators, parents, and students must be active stakeholders in prevention efforts.

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Building a Medical Home for Children and Youth with Special Health Care Needs

21

Renee M. Turchi and Marie Y. Mann

Abstract

Delivering high-quality, patient-/family-centered, and efficient care is the cornerstone of primary care. Packaging this care in the context of a medical home is the standard of health care delivery for children and adults. Central to delivering care in the medical home is a team-based approach to care. Early and continuous screening of children improves the health and well-being of the child beginning from birth and throughout his or her lifetime. Family-centered care is a central pillar to the medical home concept. Family-centered care is distinguished by the recognition that the family is the constant in a child’s life, while the service systems and support personnel within those systems change. In addition, families’ attitudes may reflect traditional family, ethnic, or cultural influences that approach the concept of illness and chronic conditions in different ways. A highquality functioning medical home does not need to provide every service alone, but does require effective partnerships across various settings and the community via coordination across systems. Care coordination is also a hallmark of the medical home in practice. Information sharing can improve coordination of care. The pediatric clinician plays an important role in facilitating transition from pediatric-oriented to adult-oriented health care. Planning for transition should be a standard part of providing care

R. M. Turchi () Department of Community Health and Prevention, St. Christopher’s Hospital for Children under Drexel University SPH, Bellet Building 11th Floor, 1505 Race Street, Philadelphia, PA 19102, USA e-mail: [email protected] M. Y. Mann Health Resources Services Administration, Maternal and Child Health Bureau, 5600 Fishers Lane, Room 16-31, Rockville, MD 20857, USA e-mail: [email protected] D. Hollar (ed.), Handbook of Children with Special Health Care Needs, DOI 10.1007/978-1-4614-2335-5_21, © Springer Science+Business Media New York 2012

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for all youth and young adults, not just youth with special health care needs. Abbreviations

AAP American Academy of Pediatrics ACO Accountable Care Organization CYSHCN Children and Youth with Special Health Care Needs EMR Electronic Medical Record MCH Maternal and Child Health NCQA National Committee for Quality Assurance NQF National Quality Forum OBRA Omnibus Budget Reconciliation Act PCMH Patient-Centered Medical Home PCPCC Patient-Centered Primary Care Collaborative PPC Physician Practice Connections ROP Retinopathy of Prematurity

21.1 Introduction Delivering high-quality, patient-/family-centered, and efficient care is the cornerstone of primary care. Packaging this care in the context of a medical home is the standard of health care delivery for children and adults. Central to delivering care in the medical home is a team-based approach to care. Early and continuous screening of children improves the health and well-being of the child beginning from birth and throughout his or her lifetime. Family-centered care is a central pillar to the medical home concept. We illustrate these concepts with a developmental case scenario that we examine to illustrate central medical home concepts.

21.2 The Case: Juan Juan is a 12-week-old premature infant who is going to the pediatrician for the first time following a 5-week admission to the Neonatal Intensive Care Unit. Following a 28-week gestation, he was born prematurely to a 22-year-old mother who

R. M. Turchi and M. Y. Mann

received prenatal care. His birth was complicated by: hypoxia, requiring endotracheal intubation for a period of 3 weeks; intracranial hemorrhage and grade II Retinopathy of Prematurity (ROP); seizures; and feeding issues requiring gastrostomy tube placement and Nissen fundoplication. The following specialists are involved in his care: Pulmonology (bronchopulmonary dysplasia); Otolaryngology (history of intubation); Neurology (history of seizure); Developmental pediatrics (history of prematurity and risk of developmental delay); Ophthalmology (History of ROP); durable medical equipment company (need for oxygen at home, pulse oximeter, etc); Surgery/ Gastroenterology; Speech, Occupational, and Physical Therapy; home care agency (need for home nursing 4–8 hours per day at home).

21.3 Why Medical Home? What is the best approach to address Juan’s needs? Juan represents a portion of the 15% of children and youth with special health care needs (CYSHCN) in the United States (MCHB Chartbook 2008). CYSHCN are defined as, “those who have or are at risk for chronic physical, developmental, behavioral, or emotional conditions requiring health and related services of a type or amount beyond that required by children generally” (McPherson et al. 1998). Juan desperately needs his care delivered in the context of a medical home given his fragile start in the world. The medical home, first spawned in pediatrics in 1967, (AAP 1967) posits several tenants including: continuity, care coordination, cultural competence, compassion, family/patient centeredness, and continuous care across the life course (AAP Medical Home Statement 2002). This approach to health care delivery has gained momentum in the last decade as we evaluate the US$ 2.3 trillion spent on health care in 2008 (CMS 2010). As such, President Barack Obama signed the Patient and Protection and Affordable Care Act in March 2010 fostering the transformation of our current health care system to include medical homes for millions of Americans, including patients like Juan (Patient and Protection Affordable Health Care Act 2010).

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21 Building a Medical Home for Children and Youth with Special Health Care Needs

Community Resources & Policies

Health System Health Care Organization (Medical Home) Care Partnership Support

Delivery System Design

Clinical Information Systems

Decision Support

supportive, integrated community

informed, activated patient/family

prepared, proactive practice team

family-centered, timely, efficient

evidence-based & safe

coordinated & equitable

Functional and Clinical Outcomes

Fig. 21.1 Chronic care model for child health in a medical home

Both pediatric and adult health care providers agree on the components of the medical home (Joint Principles Statement 2007) best serving patients. There are, however, several unique aspects of the medical home for children warranting consideration. The “Five Ds” as they are often called include things like Juan’s: Developmental trajectory, Dependency on adults, Differential Epidemiology of chronic disease, Demographic Patterns of poverty and diversity, and overall Dollars spent on children versus adults (Stille et al. 2010). When caring for children and youth like Juan, it is paramount that the “family” is included in the “patient”-centered care model (PCPCC 2007). All too often, the systems are adult-centric in design and/or fail to acknowledge the inherent differences between pediatric and adult primary care. The Chronic Care Model, initially describing adult diabetes, (Epping et al. 2004) was adapted for children several years ago (see Fig. 21.1). This model underscores the importance of the medical home model intricately linked to com-

munity resources and policies, the need for activated teams, patients and families, and the yield of favorable outcomes of satisfaction and health care outcomes for those served by the medical home. These teams caring for the patients represent a collaborative model, usually physician led, with defined team member roles and functions to “advance the health of a patient panel” (Margollus and Bodenheimer 2010).

21.4 Medical Home in the Office Central to delivering care in the medical home is a team-based approach to care. This team consists of the patient/family, community partners/ agencies, educational systems, and medical and health care professionals. In the office, “teamlets” of physicians and ancillary staff (medical assistants or nurses) work with patients, families, and communities to coach patients/families optimizing their health care and chronic condition management (Chen et al. 2010).

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Delivering high-quality, patient-/family-centered, and efficient care is the cornerstone of primary care. The team-based model collects and utilizes data from electronic health records, patient/ family feedback, and benchmarks across various settings to achieve continuous quality improvement. Bright Futures (2007) affords nationally recognized guidelines and standards for the provision of primary care for children as widely accepted clinical practice guidelines (Schor 2004). This includes routine developmental screening utilizing a validated developmental screener, and regular surveillance for autism (i.e., utilizing the MCHAT at recommended intervals). There is evidence that children with a medical home are more likely to receive health screening and anticipatory guidance than children not receiving care in the context of a medical home (Romaire and Bell 2010).

21.5 Case Follow-Up One Juan and his family are present for his 9-monthold Early Periodic, Screening, Diagnosis, and Treatment (EPSDT) Health Assessment. You explain to his family that there are a series of screenings to be completed to ensure Juan is meeting his developmental milestones and growing well. You also discuss the results and recommendations of this screening. Juan’s parents talk about some screening tests that were done as part of his evaluation for Early Intervention services and share the results with your team.

21.6 Early and Continuous Screening Early and continuous screening of children improves the health and well-being of the child beginning from birth and throughout his or her lifetime. It is critical to identify, as early as possible, children in the general population who have special health care needs so that they and their families can receive the necessary services to address those needs. Equally important is the need for children and youth with special health care needs to have ongoing assessment to identi-


fy newly emerging issues and prevent secondary conditions that may interfere with their development and well-being. There is evidence that when screening achieves its goals, it results in potential cost savings for the health and educational systems and society as a whole with improvement in the quality of life for the child and his or her family (Romaire and Bell 2010). Two decades ago, the Health Resources and Services Administration’s Maternal and Child Health Bureau launched the Bright Futures initiative to improve the quality of health services for children through health promotion and disease prevention. In 2007, the AAP published the third edition of the Bright Futures Guidelines as a uniform set of recommendations for health supervision for all children, including those with special health care needs. Bright Futures emphasizes the importance of providing a medical home to assure comprehensive and timely screening and surveillance (Bright Futures 2007). Having a medical home in place should minimize missed screening, incorrect screening, results of screening not communicated to the family, missed diagnostic confirmation for those with an abnormal screening result, and lack of care coordination for those diagnosed with a condition through screening. Even though screening can happen in a variety of settings, the medical home can serve as the hub of screening activities that occur within the practice setting itself, such as nutrition and adolescent depression screening. It also can serve as the coordinating point for information from screening activities such as newborn bloodspot, hearing, and vision screenings that occur in other locations. The child’s primary care provider is in the best position to help the family understand and make use of the screening information, deliver diagnostic and medical management information, and facilitate the appropriate referral and linkage to community resources. Screening and surveillance for risk and protective factors are an integral part of routine care for all children and youth, particularly those with special health care needs. Resilience and susceptibility are factors that influence the child and youth’s health and well-being (Newacheck et al. 2006). Surveillance of parental social-emotional well-


being also has been recommended in the Bright Futures guidelines (Bright Futures 2007). Given the longitudinal and trusting relationship that the primary care provider has with the child and family in the medical home, there can be communication that includes discussion of family support systems and other psychosocial factors such as poverty, parental mental health, and substance abuse (Earls 2010). The primary care provider is in a unique position to facilitate the early identification of mental health concerns, such as parental stress and maternal depression, and initiation of intervention to prevent adverse outcomes for the child and family. Particularly for low-income families whose only point of access to the health care system may be the child’s medical home, screening for social needs during the child’s visits provides opportunities to evaluate and link the families to appropriate resources. This may lead to improved outcomes for low-income children’s health and development (Garg et al. 2009). Effective screening requires that it be completed with an appropriate test using a standardized tool administered at the appropriate age. There must be effective communication with families regarding the results of screening and education, as necessary. Timely followup is needed for diagnostic confirmation after a positive screen with care and services coordinated over the long term. An example of such screening in the medical home is developmental screening as mentioned in our case with Juan. Not only is a standardized developmental screening tool administered at timely intervals, developmental surveillance is conducted at every preventive visit throughout childhood (Bright Futures 2007). Such surveillance includes eliciting and attending to parents’/ caretakers’ concerns, obtaining a developmental history, making accurate and informed observations of the child, identifying the presence of risk and protective factors, and documenting the process and findings. Children with developmental concerns are referred to early intervention and early childhood programs and a program of chronic condition management is initiated as demonstrated in Juan’s case. Surveillance, screening, evaluation, and referral activities are documented and accessible to the children’s families (AAP Policy Statement 2006).

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21.7 Case Follow-Up Update: Maternal Concerns In the office, Juan’s mother discussed her need to return to work and anxiety regarding his care needs. She mentions that she is fairly certain he cannot attend the day care she had originally visited when she learned she was pregnant. As she talks about this, she gets tearful and also says that she and Juan’s dad are experiencing marital strain as this was not what they anticipated the inauguration of parenting would ensue.

21.8 Family-Centered Care Health care providers often underestimate the stress of caring for children/youth with special health care needs on families. Families find themselves with no training on parenting a typically developing child, yet they are thrown into a system without any navigation for children with complex issues. Similar to Juan’s mother, families of CYSHCN experience many challenges. In a recent study, 24% of families with CYSHCN experienced work loss due to caring for their child. In this same study, support systems in the context of medical home had a protective effect on work loss, suggesting again the need for Juan to receive care continuously in a medical home environment (Okumura et al. 2009). As Juan’s caregivers operationalize his services, a familycentered, community-based system of services is essential (Perrin et al. 2007). This approach places the family and child with special health care needs at the epicenter at the array of systems and providers (mental health, specialists, public health, medical home, transportation, housing, social services, education) needed in their care. In 2001, the Institute of Medicine identified in its seminal report Crossing the Quality Chasm patient-centeredness as one of the attributes of high-quality health care. The IOM defined patient-centeredness as “providing care that is respectful of and responsive to individual patient preferences, needs, and values, and ensuring that patient values guide all clinical decisions” (IOM 2001, p. 6). This attribute is fundamental

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to the patient-centered medical home as defined by the American Academy of Pediatrics (AAP), the American Academy of Family Physicians (AAFP), the American College of Physicians (ACP), and the American Osteopathic Association (AOA) in the Joint Principles of the PatientCentered Medical Home (Joint Principles Statement 2007). For CYSHCN, it is the principle of familycentered care that defines the care to be received in a medical home (AAP Policy Statement 2002). Since the late 1980s, when a group of parents and professionals gathered to define it, the concept of family-centered care has been widely adopted and operationalized in various service delivery settings. It has been incorporated into major legislations, including the Omnibus Budget Reconciliation Act (OBRA 1989), which mandated states to develop family-centered systems of care as part of their Title V MCH services block grants (Shelton and Stepanek 1994). The 2002 AAP policy statement on medical home reiterated the central role the families play in the care of CSHCN (AAP Policy Statement 2002). Family-centered care is distinguished by the recognition that the family is the constant in a child’s life, while the service systems and support personnel within those systems change (Shelton and Stepanek 1994). A central theme is the respectful partnership between the child’s family and the health care professional that allows for family/professional collaboration, exchange of complete and unbiased information, recognition of family diversity, and provision of appropriate, flexible, and accessible services and supports (Denboba et al. 2006; IFCC 2010a).

21.9 Identifying Roles and Responsibilities in the Partnership for FamilyCentered Care This partnership promotes meaningful communication, which leads to mutual decision making and a medical home where the patient, family, and health care professional are free to discuss all issues and can expect issues to be addressed.


The elements of a successful family–professional partnership are mutual commitment, respect, trust, open and honest communication, cultural competence, and an ability to negotiate (IFCC 2010b). As Shelton and Stepanek noted, “every child’s family has the right to be listened to, to be informed, to be respected and supported in their strengths and concerns, and to be involved in their child’s care” (Shelton and Stepanek 1994). A family-centered medical home implies a commitment to seeking and valuing the voice of the family caregivers in care decisions, acknowledging that they are usually the experts in the individual strengths and needs of the child. Familycentered care occurs when the health professional assists the family in decision making that honors and respects families’ preferences (AAP Policy Statement 2003). Such issues as identifying the family’s concerns, setting goals, and choosing treatment options are part of the decision-making process that accompanies family-centered care. The degree to which families serve as the ultimate decision makers in this process is one measure of family centeredness.

21.10 Family-Centered Care and Partners in Decision Making Patient and family participation in practice improvement activities has been a critical component of the medical home model. Seeking input from patients and families on what is working in the care process and care delivery can help practices to respond and improve in a timely way. Surveys can provide a representative snapshot of care in the practice. Informal inquiries or qualitative efforts can aid in understanding of the sources of problems and identification of possible solutions, and patients and families can help to improve care through participation in practice workgroups. Engaging patients in practice improvement takes extra time and resources. Practices may only be able to utilize surveys or other informal approaches for getting family feedback on specific ideas and concerns. Such approaches include keeping a suggestion book or comment cards in waiting rooms, getting family input on the development


of new educational materials, asking patients and family members to do a “walk-through” of the practice to get ideas on the patient/family perspective of the practice workflow, discussing different methods of involving family members in shared decision making, and inviting parents to interview prospective staff (AAP Policy Statement 2003). A common expectation for the medical home and family-centered care is that the patients and clinicians should be partners in making treatment decisions (Homer et al. 2008). The shared decision making refers to a formal process in which patients review evidence-based decision aids to understand the likely outcome of different treatment options, think about and discuss with a health care provider what is personally important about the risks and benefits of different options, and then decide jointly with the health care provider on a treatment or course of action that best reflects the patients’ preferences and values.

21.11 Case Follow-Up Two When you see Juan and his parents at a followup visit, they bring some relatives with them. Since his last visit with you, he has seen four specialists (Pulmonology, Otolaryngology, Neurology, Ophthalmology) and his parents had some questions. They were given several recommendations regarding medications and therapy; however, they felt like when they posed questions regarding their religious beliefs and staying overnight in the hospital for a sleep study, they were not taken seriously. They are concerned about having roommates and the food available in the hospital cafeteria. In addition, they were unsure who would be working with the insurance company to get the medication authorization approved for one of the medications prescribed.

21.12 Cultural Competency in the Medical Home Families’ attitudes may reflect traditional family, ethnic, or cultural influences that approach the concept of illness and chronic conditions in differ-

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ent ways. It is important to not make inappropriate assumptions about the family’s beliefs and behaviors based on their belonging to a particular ethnic or cultural group (Brotanek et al. 2008; KagawaSinger and Kassim-Lakha 2003). This is particularly important in the interest and use of complementary, indigenous, and traditional healing or alternative practices (Goode et al. 2009). The health care professional should be nonjudgmental when discussing with the family its goals and reasons for the choice of alternative therapies. Avoid dismissing complementary and alternative care in ways that suggest a lack of sensitivity or concern for the family’s perspective. In committing to providing a medical home for a diverse population of children and youth, the health care professional must have the capacity to value diversity as well as demonstrate behaviors and attitudes that enable them to partner with the families they serve effectively cross-culturally (Goode et al. 2006). Delivering culturally competent care means tailoring care to patients and families with diverse values, beliefs, and behaviors in a manner that meets their social, cultural, and linguistic needs. In Juan’s specific case, it would be paramount to understand his family’s perspective of the events. Explicit discussions and agreement about the roles and responsibilities of the health care team and the family, as well as objectives of health care, are important. To ask families about their views of the children’s problems and health needs and priorities for care, understanding the context of their lives and individual circumstances, and learning about their values and preferences, as well as their capabilities for participating as partners are important steps in effectively engaging families in the care (Kagawa-Singer and Kassim-Lakha 2003). Different ways of discussing partnerships may be needed for populations with low literacy skills, limited English proficiency, or a mistrust of the health care system. This may include foreign language or sign language interpretation services, use of cultural brokers, and cross-cultural communication approaches (Goode et al. 2006). Efforts to include patients as members of standing patient/family advisory councils, quality improvement teams, or other ongoing groups to support design and evaluation of the practice and

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services have been used in a number of collaborative quality improvement models, particularly in hospitals (IFCC 2010b, AAP Policy Statement 2003). The American Academy of Pediatrics’ Medical Home Toolkit (updated 2008) suggests that practices should assess the needs of families, solicit feedback from families, have a parent/practice advisory group, establish specific communication methods or systematic inquiry of family concerns/priorities, and display a written mission statement. Because of the training considerations as well as the need to listen and compromise, extra staff time is needed to involve families in ongoing activities. When identifying and recruiting patients and families to participate in practice improvement, consider the patients’ and families’ ability to work with the health care team, their breadth of experience with the health care setting, their ability and willingness to communicate concerns, and the patient or family member’s ability to represent patients and families broadly rather than focus narrowly on a particular issue (IFCC 2010c; Johnson et al. 2008). The enthusiasm of the practice and its willingness to embrace suggestions from patients and family members can also influence ongoing participation and facilitate family “buy-in” (Palfrey et al. 2004). Achieving family-centered care is “a journey, not a destination” (IFCC). Although increased satisfaction of care, decreased family strain, and increased functioning have been observed and families report improved communication with their health care providers and enhanced access to specialty care and community-based support services (Homer et al. 2008; Denboba et al. 2006; King et al. 2004), there are segments of the population that have not achieved the desired family– health professional partnership. Efforts must be made to assist these families and address their unique issues (Denboba et al. 2006).

21.13 Information Sharing and Comanagement Information sharing can improve coordination of care. Families need information about the diagnosis, treatment options, and probable outcomes;


information in the child’s medical records; and information about community resources. There is evidence that well-designed information, whether paper- or Web-based, can help to improve patient knowledge and experiences of care as well as have positive effects on self-efficacy and health behavior (Coulter and Ellins 2007). While some families are comfortable handling communication between primary care and specialty care physicians, some parents are uncomfortable serving as the intermediary (Stille et al. 2007). Comanagement, communication, and collaboration between specialists and primary care are integral to managing patients similar to Juan requiring specialty care (Antonelli et al. 2005). Juan is one of five million children and youth in the United States requiring the need for specialty care in managing their conditions (MCHB Chartbook 2010). Ideally, relationships between primary care providers and specialists are reciprocal, requiring bidirectional communication (email, phone call, note, fax; Stille 2009). Electronic health records can foster automated systems and interfaces, but this does not mitigate the need for communication regarding the plan of care for Juan and his family. In Juan’s case, comanagement regarding his inpatient studies is integral to fostering partnerships between his health care team and his family. When a patient/family is referred to a specialist, the following need to occur: • The family needs to be adequately prepared for the initial visit and know what to expect. • There needs to be timely and ongoing communication between the primary care clinician and the specialist. • The consulting specialist needs to have received the appropriate clinical information— including the reason for the consultation and any relevant laboratory and radiological results—before the initial visit. • The primary care clinician follows up with patient/families after the visit with the specialist to review any recommendations. • The primary care clinician assists the family in making decisions when multiple specialists may offer divergent points of view about the treatment regimen or the process.


• The primary care clinician assists the family with obtaining the referral when there are financial barriers. It is important that responsibilities for management be specifically delineated and the CYSHCN and their families given clear advice as to when they should contact the specialty versus the primary care team. In addition, the CYSHCN and their families’ views, concerns, and needs must be taken into account, with open bidirectional communication among all involved parties. In order to successfully implement the medical home model, primary and specialty care teams need to pay close attention to coordination of roles, maintaining the CYSHCN and their families at the forefront to ensure that all their needs are met. The primary and specialty care teams need to identify a general process for communication that is efficient and that provides a structure for a rapid communication response. One approach is a “clinical fax-back sheet” that includes fax, voicemail, and telephone number of the person designated to follow up on the referral. Primary care clinicians also need to communicate and collaborate with community-based educational and social service agencies and programs in their support of CYSHCN and their families (Cooley and McAllister 2004). This may involve working together to develop forms and checklists that clinicians can utilize to communicate the needed information for a particular program, e.g., eligibility information. Knowledge of the type of information needed by community service agencies and programs will enhance the ability of the clinicians to communicate effectively and efficiently with those entities and assist families of CYSHCN in accessing the necessary services. Given the increasing complexity of health information and the limited health literacy skills of the majority of English-speaking adults in the United States (U.S. Department of Health and Human Services 2010c), the patients and families more than ever need the support of their medical homes to make appropriate health decisions and to act on them. Discussing the medical record summary with patients can help them understand the clinician’s perspective on the visit and next steps. Electronic tools can support information

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sharing between patients and health care teams. Tools like previsit and after-visit summaries, care plans, and personal medical records can be shared with and among health care professionals. Computer- and Internet-based tools can support communication between families and providers, provide information, support skills training, allow networking among families, facilitate connections between health care providers and between health and other social and educational services, and enable patient feedback on care. The potential for electronic tools’ support of information sharing is great; however, interfaces between practice-based electronic medical records (EMRs) and patient personal health records are not yet seamless and require ongoing maintenance.

21.14 Case Follow-Up Three: 5-Year Wellness At Juan’s 5-year-old well-child visit, he is doing well. His mother talks about how valuable the early intervention services proved to be in his development. She discusses the role of care coordination in his care and their life. Specifically, she states the communication between your office, the specialists, and the community agencies serving Juan has fostered efficiency and familycentered approach to their needs. Juan’s care plan has been developed and maintained in your office. This care plan is utilized in your office, in his school, with specialists, by his therapists, in the Emergency Department, by his babysitters/ caregivers, and his community recreational specialist.

21.15 Bringing Medical Home and Quality to Life in the Office Setting There are several tools available to assist in adopting and implementing medical home in practice settings. In pediatrics, some pediatric practices employ the Medical Home Index (Cooley et al. 2003), a nationally validated instrument designed

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to assess measurement of medical home constructs in the outpatient practice setting. The patient registries are critical for managing patients with chronic conditions (McAllister et al. 2007). These registries can be developed as part of an electronic health care record or in a spreadsheet including but not limited to information such as: name, date of birth, diagnoses, need for home nursing, equipment, immunization, specialists, community partners, severity indices, and benchmarks related to clinical practice guidelines such as laboratory result studies. The American Academy of Pediatrics, National Center for Medical Home Implementation has developed a medical home toolkit to assist practitioners with assessment tools, preparation, and step-by-step guides on medical home implementation (www.medicalhomeinfo.org). Quality improvement is paramount in practice transformation around medical home. Ongoing practice reassessment, targeting goals for improvement, and employing Plan Do Study Act (PDSA) Cycles are but a few things the practices can engage with their teams in striving for quality improvement around medical home (Turchi et al. 2007).

21.16 Care Coordination A high-quality functioning medical home does not need to provide each service alone, but does require effective partnerships across various settings and the community (McAllister et al. 2009). Care coordination is the hallmark to achieve these partnerships. The Institute of Medicine describes care coordination as a “cross cutting system intervention” fostering improved health care quality for adults and children (IOM 2001). In a recent Commonwealth report, Antonelli et al. define pediatric care coordination as a “patient and family centered, assessment driven, team based activity designed to meet the needs of children and youth while enhancing the care giving capabilities of families” (Antonelli et al. 2009).


An essential component of the medical home model is the ability to provide services that are coordinated. The effective coordination of a child’s health services is critical in providing high-quality efficient care, particularly for CYSHCN and their families (McPherson and Honberg 2002; Cooley and McAllister 2004; McAllister et al. 2007). According to the American Academy of Pediatrics, care coordination is a process that facilitates the linkage of children and their families with appropriate services and resources in a coordinated effort to achieve good health (AAP Policy Statement 2005). The patient-/family-centered medical home is well positioned to provide coordinated, compassionate, family-centered health care by forming strong links between the specialist team, primary care provider team, the patient, and his or her family/ caretakers (Cooley 2004). Successful care coordination takes into consideration the continuum of health, education, early childcare, and social services needed to improve the quality of care for CYSHCN. It is to be distinguished from disease or case management that primarily focuses on health needs of the patients. The fundamental goals of care coordination are to: develop an anticipatory/proactive plan for appropriate services for the child and family, integrating the recommendations of multiple professionals and service systems and the preferences of child and family, assist the family in accessing needed services, share information, facilitate communication, avoid duplication of services and unnecessary costs, establish accountability, and optimize health and well-being of the child (AAP Statement Policy 2005). It is characterized by the following activities: • Assess and update coordination needs. • Create and update with families an individualized plan of care that includes a medical summary, action plan, and emergency/contingency plan. • Promote communication with families and among health team members. • Communicate integrated information among the members of the health team, between


health team and patients/family, and between the medical and nonmedical teams and across settings. • Manage/track tests, referrals, and outcomes. • Facilitate transition across health care settings, from acute episode of care to chronic disease management, as well as from pediatric to an adult system of care. • Connect with community resources (Antonelli et al. 2009). Care planning includes the use of an actionable care plan, a care plan document, emergency information form, and/or a medical summary (McAllister et al. 2009). These care plans are informed by input by the teams caring for a child including community partners, educational systems, primary care providers, specialists, and most importantly the family and patient. These documents are used across medical emergency setting, educational environments, by therapists, and all those necessary to optimize the care of the child/youth with special health care needs. While care coordination is valuable to all patients, it is critical for patients with chronic complex conditions. Their need for care coordination is related to the complexity of their conditions, use of multiple health professionals and services, and demands on the patients, families, and caregivers (McPherson and Honberg 2002). The care of hospitalized children and youth has become increasingly complex and often involves multiple clinicians. Coordination of such care must occur within the context of the child’s/youth’s medical home and involves ongoing communication between the family, primary care clinician, and the specialists involved in the care. Care coordination must include continual involvement of the family, clear delineation of responsibilities, and careful handoffs when transitioning between inpatient and outpatient settings (Lye and The Committee on Hospital Care and Section on Hospital Medicine 2010). Effective care coordination optimizes the physical and emotional health and well-being of the child and improves the child’s and family’s

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quality of life (Stille and Antonelli 2004; Forrest et al. 2000; Palfrey 2004; Farmer et al. 2005). Care coordination can favorably impact patient experiences like Juan and his family. Analyzing data from the 2005–2006 National Survey of Children with Special Health Care Needs, Turchi et al. (2009) found a positive association between care coordination and family–provider relations and family/child outcomes. Accordingly, care coordination was associated with “receipt of family-centered care, experiencing partnerships with professionals, and satisfaction with services, ease of getting referrals, less out-of-pocket expenses and family financial burden, fewer hours per week spent coordinating care, less impact on parental employment, and fewer school absences and ED visits” (Turchi et al. 2009). An Illinois study demonstrated that children, youth, and their families benefited from care coordination services provided within community-based primary care practices and health centers (Rosenberg et al. 2005). The value of care coordination has also been found in small samples of primary care pediatric practices where there was a decrease in unnecessary office and emergency department visits, enhanced family satisfaction (Palfrey et al. 2004; Antonelli et al. 2008), and reductions in unplanned hospitalizations and emergency department visits (Piekes et al. 2009). Furthermore, an effective care coordination in a medical home may address the issue of disparity in access to services. Improved receipt of services for families of CSHCN in an underserved population was observed with the intervention of a nurse care coordinator (Berry et al. 2010). Sensitivity of the primary care clinician to the culture and needs of the children and their families and the degree of care coordination are associated with fewer unmet needs for services (Benedict 2008). Cultural and organizational changes must occur for effective care coordination. The medical home practice must engage a collaborative teamwork approach and transform work processes to include the following:

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• Accommodate needs of patients/families that require more time. • Share information and knowledge with patients/families. • Create registries of CYSHCN to identify those with unique needs, facilitate communication and monitoring. • Develop individualized evidence-based care plans. • Engage in quality improvement activities around practice transformation. • Designate a team member to carry out the essential care coordination functions, including tracking of referrals. • Have access and linkage to community-based resources. Resources, including health information technology, appropriately trained staff, and payment structure that supports such activities are necessary to enable effective care coordination. In its 2005 policy statement, the AAP recommends a designated individual/care coordinator to facilitate the coordination (AAP Policy Statement 2005). Health information systems are needed to ensure successful transfer of information and establishing and monitoring accountability. Interoperable electronic health records within integrated systems can serve to support private collaborative communications between patients, families, and the care team and facilitate shared decision making. In addition, they can bridge the information gap that often exists among the clinicians serving as the medical home team. The use of registries can support tracking and monitoring functions. Other health information technology tools like telemedicine, remote monitoring, online patient and caregiver assessments, and personal health records may enable improved workflow and process changes that enhance health care experiences and outcomes. Approaches to care coordination within primary care vary (McAllister et al. 2009). The American Academy of Pediatrics recommended a designated care coordinator/individual to carry out the coordination. This may be met by having a nurse physically located in the primary care practice or one located in an organization outside


of the practice. Rosenberg et al. demonstrated that CYSHCN benefited from care coordination activities conducted by registered nurses within primary care offices or community health centers (Rosenberg et al. 2005). In this scenario, Szilagui noted that the care coordination activities require available personnel and dedicated time. Antonelli and Antonelli’s study revealed costs associated with care coordination are not directly reimbursable under current payment mechanisms (Antonelli and Antonelli 2004). Yet, those activities delivered by nurses often led to avoidance of office and emergency department visits (Antonelli et al. 2008). Wood et al. also found that care coordination conducted as part of the pediatric practice resulted in increased family satisfaction with the quality of care as well as decreased barriers to care (Wood et al. 2009). In a Medicaid-managed care plan study, a care coordinator consulted with primary care clinicians at multiple practices to develop integrated, individualized care plans that met child and family needs. CSHCN and their families who received care coordination reported improved satisfaction with mental health services and specialized therapies and were observed to have a decline in unmet needs, improved satisfaction with specialty care, and improved ratings of child health and family functioning (Farmer et al. 2010). Besides inadequate reimbursement for care coordination (AAP Policy Statement 2005), the lack of time has been cited frequently as a barrier to provide care coordination services (Gupta et al. 2004). Other potential barriers to effective care coordination include: the primary care clinician’s lack of knowledge about the clinical condition, community resources, and/or the coordination process; lack of communication among the health care professionals and the organizational entities involved in the person’s care; lack of clearly defined roles for each member of the medical home team; culture and language; and educational level, economic situation of CYSHCN and their families. As the positive impact of care coordination for CYSHCN becomes more recognized, program


and policy changes will need to occur to support the activities, including those devoted to implementation and evaluation (Stille et al. 2009).

21.17 Case Follow-Up Four: 14 Years Juan is quickly growing and at his 14-year-old EPSDT visit you begin to discuss the process of transition with his family. At first, his parents get tearful and express their concerns regarding quitting your office. You go on to explain that as they begin to plan for this natural developmental milestone, you will all work as a team to ensure that Juan’s transition is as seamless as possible. The transition to an adult primary care provider is an aspect of the transition process, you explain, but there are other aspects of transitioning to adultoriented systems including: education, vocation, insurance, sexuality, and self-management among others. You assure them this will be a team approach and you will work—Juan, his parents, his team of providers, the community, and all who support him on this journey. Comprehensive health care planning, moving from pediatric to adult health care, must be addressed for all youth and young adults, regardless of health conditions (AAP Policy Statement 2002; AAP Clinical Report 2011). To take responsibility for one’s own health care is part of growing up and becoming independent. Health care transition is critical to have successful adulthood that includes economic self-sufficiency. In the United States, for the estimated 16% of youth with special health care needs (YSHCN), the health care transition goals of optimizing health and facilitating each young person’s attaining his or her maximum potential are particularly important and challenging (SAM 2003). YSHCN need to be encouraged and supported to develop the highest possible level of independence based on a realistic and objective evaluation of their abilities. Medical and technological advances, along with improved care giving, have improved survival rates of children and youth with complex special health care needs. Increasing numbers

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of YSHCN with what were once considered to be life-limiting conditions are growing up into adults. There is national recognition of the need for planned transition of these young people, seen in the inclusion of objectives in the Department of Health and Human Services’ Healthy People 2010 and 2020 National Health Promotion and Disease Prevention Objectives and position papers from health professional organizations, including the American Academy of Pediatrics, the American Academy of Family Physicians, the American College of Physicians, and the Society of Adolescent Medicine (SAM; HHS Healthy People 2010/2020 (U.S. Department of Health and Human Services 2010a/b); AAP Policy Statement 2002; SAM 2003). As outlined by these groups, transition shares the principles of medical home: family-centered, continuous, comprehensive, coordinated, compassionate, and culturally competent (AAP Policy Statement 2002). While there may be interest, implementation is lacking. According to the 2005 National Survey of Children with Special Health Care Needs, only 41% of parents of YSHCN reported that the YSHCN received the services they need for transition to adult health care (Lotstein et al. 2009); even lower is the proportion of YSHCN from ethnic minorities who receive adequate transition preparation (Lotstein et al. 2005; Lotstein et al. 2010). The causes of the disparities may be related to socioeconomic status like insurance, lower educational attainment, housing in low-income communities, and culture (Lotstein et al. 2010). A survey of over 600 AAP members found most pediatric practices did not routinely offer the transition support services outlined in the 2002 AAP consensus statement (McManus et al. 2008). Few pediatricians reported initiation of transition planning early in adolescence. Most believed that transition planning need not begin until age 18 and less than half assisted their patients and families in finding adult health care providers (McManus et al. 2008). Barriers to successful health care transition are well documented. A recurring concern cited

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by pediatric clinicians is the inability to find qualified adult providers to accept transitioning patients (Reiss et al. 2005; Scal 2002). A study of internal medicine clinicians regarding transition of youth with childhood-onset conditions highlighted their concerns in the areas of family involvement, patient maturity, systems issues, providers’ competency, patient’s psychosocial needs, and coordination of the transition process (Peter et al. 2009). Specifically, there were “concerns that the family will not stay involved, especially for patients with mental retardation or cerebral palsy, the need for super specialist to care for very complicated medical conditions, such as congenital heart disease, the need to face disability and end-of-life issues at an early age and early in the doctor-patient relationship, time limitations attributable to managed care/financial considerations, and families’ high expectations for internists’ time” (Peter et al. 2009). In another survey of general internists and pediatricians assessing their approaches to youth with chronic conditions and delivering effective care, Okumura et al. reported that 50% of internists and 62% of pediatricians believed finding an adult medical home for transitioning youth would be difficult. Lack of time and reimbursement were regarded as major barriers to good transition services but effectiveness of care coordination were thought to contribute to improved transition and chronic condition care (Okumura et al. 2009). Other barriers attributed to health care professionals include: lack of expertise and experience with YSHCN with complex health needs and intellectual disabilities; lack of training in childhood-onset and congenital disorders and meeting YSHCNs’ psychosocial needs; lack of adult subspecialists to care for YSHCN with congenital and childhood-onset disorders; lack of reimbursement for time required by pediatric or adult primary care practices to provide transition services; lack of knowledge about community resources; difficulty that youth and families have in leaving trusted pediatric providers; and lack of self-efficacy, self-confidence, and self-advocacy among YSHCN (Callahan et al. 2001; McManus


et al. 2008; Reiss and Gibson 2002; Reiss et al. 2005; Okumura et al. 2009). Adult clinicians cite general challenges to accepting adolescents and young adults into their practices, including the more time that these patients require and their dependence on their families for ongoing care and support. Youth transition to adult health care also can be an especially difficult time for parents and guardians, affecting them emotionally, mentally, and financially as they assist with coordinating a new set of services for the adolescents (Rosen et al. 2003). Parents may be reluctant to leave their child’s pediatric provider or harbor myths surrounding the adult health care system, have feelings of exclusion from their child’s decisionmaking process or concerns about their child’s ability to manage his or her condition independently (Wallis 2007). When the youth has complex health problems that family physicians, internists, and other providers who care for adults are neither familiar with nor comfortable treating (e.g., cystic fibrosis or a significant congenital heart disease such as hypoplastic left heart syndrome), to make such a transition in real-life clinical practice can be very challenging for both the patient and the clinicians involved. From the families’ perspectives, the barriers are not only the fragmented health care system and limited insurance coverage (White 2002), but lack of capacity of adult providers, their lack of knowledge about or linkages to community resources, and lack of staff times in the adult practices (Reiss et al. 2005; Wang et al. 2010). The pediatric clinician plays an important role in facilitating transition from pediatric-oriented to adult-oriented health care. Planning for transition should be a standard part of providing care for all youth and young adults, not just YSHCN. He or she needs to involve the family and youth in the development of a transition plan and in setting goals that are not only focused on medical aspects (Olsen and Swigonski 2004). The clinician must encourage the active involvement of the youth at an early age in the management of his or her chronic condition and development of a plan for transition, with clearly stated goals


for health, vocation, education, and independent living. Studies suggest the optimum time to begin the process is between 11 and 13 years of age (White and Hackett 2009). While it is not always possible to begin the process between 11 and 13 years of age, it should commence early enough to allow the adolescent time to increase his or her capacity for self-care and the family time to adjust to the changing roles and responsibilities. Among the issues that clinicians need to consider are the following: • Health promotion and prevention—The need to regularly screen for condition-specific needs as well as general health needs, including hygiene, nutrition, exercise, risk-taking behaviors, sexuality issues, reproductive health, mental health, and routine needs such as dental, vision, and immunizations. • Guardianship issues, if applicable. • Coordination of linkages with the relevant specialists and local community resources and support. • Identification of adult clinicians and transfer of care. • Transition across the lifespan, with services centered on core outcomes including health care, education, employment, and independent living. • Continuity of insurance coverage (White 2002). • Services that are continuous, comprehensive, person- and family-centered. • Written health care transition plan. The health care transition plan should include the following: • Discussion of differences in the cultures of the pediatric and adult health care systems. • Delineating the necessary youth and family skills required to transition and coordinate the skill development with other systems like education. • Creation of a portable medical record/summary. • Creation of an emergency plan. • Outline of health promotion activities. • Outline of educational and career/work goals.

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• Discussion of independence and transportation issues. • Visit an adult practice or plan a joint visit with an adult provider (White and Hackett 2009). Parents and guardians have key roles in the transitioning process. They need to support their children’s efforts toward gaining independence, including youth in decision making as early as possible, when developmentally appropriate. Parents should support their children in carrying an insurance card and portable medical summary and making their own appointments and having solo office visits. Early discussion of expectations around the transfer of care, opportunities to meet new care teams and visits to the adult practices were important to the youth who participated in one study (Tuchman et al. 2008). In other surveys, the youth indicated that they wanted to be better informed about their health issues, how to stay healthy and manage their own care, find a good adult doctor, know what accommodations they need and how to find resources, know what to do in an emergency and how to find and keep health insurance, be their own advocate, and have family members expect them to be successful adults (Kelly et al. 2002; White and Hackett 2009). In 2009, the Florida Health Care Transition Services Task Force identified 10 steps to successful health care transition: • Start early. • Focus on responsibility for health care. • Create a health summary. • Create a health care transition plan. • Maintain wellness. • Know options for health insurance and public assistance programs. • Find adult providers. • Include health in other areas of transition. • Integrate health care transition activities in the student’s Individualized Education Plan. • Learn about other community services and supports for adults (Florida Health Care Transition Task Force 2009). Within the medical home the primary care practitioner not only serves to advocate for successful outcomes in the domains of health care

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but also serves to advocate vocation, education, and independent living. Youth and young adults who have a medical home are more likely to experience transition that meets their individual needs and receive the necessary support to becoming part of the adult community. Still, to fully realize the potential of effective health care transition requires system and infrastructure development to support collaborative partnership among the stakeholders, including professionals in health care, education, and employment, policy changes that support the medical home model, and research on clinical outcomes and patient, family, and provider satisfaction (Freed and Hudson 2006).

21.18 What is the Future of Medical Home? Adequate payment for the provision of medical home services is integral to the viability in practice. The current focus on the medical home resulted from policy efforts to promote demonstrations of new payment models for primary care. Working with the four primary care specialty societies, the National Committee for Quality Assurance (NCQA) developed the Physician Practice Connections®—Patient-Centered Medical Home™ (PPC-PCMH) program (NCQA 2008). All saw the value of a standardized means of assessing the degree to which practices function as PCMHs. The PPC-PCMH standards have been endorsed by the National Quality Forum (NQF, as the Medical Home System Survey; NQF 2011), numerous physician organizations, and the Patient-Centered Primary Care Collaborative (PCPCC), a multistakeholder coalition of employers, consumer groups, health care providers, and others that advocate for the PCMH. The PPC-PCMH is now used in most PCMH demonstrations that include payment reform (PCPCC 2009). Several other tools for surveying the medical home characteristics of practices have been used mostly for research projects. Some States have created their own tools for demonstration projects (e.g., Minnesota Department of Health). With the healthcare marketplace showing sus-


tained interest in the PCMH model, a number of organizations have emulated the NCQA in developing programs that recognize and/or accredit practices and healthcare organizations as medical homes. Accountable care organizations (ACOs) have been cited as a mechanism to ensure the survival of the medical home across sectors (Joint Principles for ACO 2010). MedPAC (2009) has defined ACOs as “a set of providers associated with a defined population of patients, accountable for the quality and cost of care delivered to that population. The providers could include a hospital, a group of primary care providers, specialists, and possibly other health professionals who share responsibility for the quality of care and cost of care provided to patients.” The key elements include payment reform, performance measurement and accountability, and coordinated continuum of care. In the ACO model, there are incentives to manage health care utilization, improve quality, and shared savings to control cost. The patient-/family-centered medical home model can be enhanced through the ACO model with greater organization, coordination, and integration throughout the care system. Similarly, ACOs will be more successful if they incorporate the medical home model with care that is patient-/family-centered, accessible, continuous, comprehensive, coordinated, compassionate, and culturally effective. How and if the ACO model will be widely implemented in the US health system is not known. Whether a medical home will be delivered in the context of an ACO, its value to children and youth—particularly those with special health care needs—and their families, and their communities cannot be understated.

References American Academy of Family Physicians (AAFP), American Academy of Pediatrics (AAP), American College of Physicians (ACP), & American Osteopathic Association (AOA). (2007). Joint principles of the patientcentered medical home, February, 2007. Washington, DC: AAFP, AAP, ACP, & AOA. American Academy of Pediatrics. (2005). Care coordination in the medical home: Integrating health and

21 Building a Medical Home for Children and Youth with Special Health Care Needs related systems of care for children with special health care needs. Pediatrics, 116(5), 1238–1244. American Academy of Pediatrics, American Academy of Family Physicians, & American College of Physicians—American Society of Internal Medicine. (2002). A consensus statement on health care transitions for young adults with special health care needs. Pediatrics, 110, 1304–1306. American Academy of Pediatrics, American Academy of Family Physicians, & American College of Physicians. (2011). Clinical report: Supporting the health care transition from adolescence to adulthood in the medical home. Pediatrics 128(1), 182–200. American Academy of Pediatrics Committee on Hospital Care/Institute for Family-Centered Care. (2003). Policy Statement: Family centered care and the pediatrician’s role. Pediatrics, 112(3), 691–696. American Academy of Pediatrics, Council on Children with Disabilities, Section on Developmental Behavioral Pediatrics, Bright Futures Steering Committee. (2006). Medical home initiatives for children with special needs project advisory committee. Pediatrics, 118, 405–420. American Academy of Pediatrics, Council on Pediatric Practice. (1967). Pediatric records and a “medical home.” In: Standards of child care (pp. 77–79). Evanston: American Academy of Pediatrics. American Academy of Pediatrics Medical Home Initiatives for Children with Special Health Care Needs Advisory Committee. (2002). Policy Statement: The medical home. Pediatrics, 110, 184–186. Antonelli, R. C., & Antonelli, D. M. (2004). Providing a medical home: The cost of care coordination services in a community-based, general pediatric practice. Pediatrics, 113(5), 1522–1528. Antonelli, R. C., Stille, C. J., & Freeman, L. C. (2005). Enhancing collaboration between primary and subspecialty care providers for children and youth with special health care needs. Washington, DC: Georgetown University Center for Child and Human Development. http://gucchd.georgetown.edu/topics/special_health_ needs/object_view.html?objectID=.6582 Accessed 29 Dec 2010. Antonelli, R. C., Stille, C. J., & Antonelli, D. M. (2008). Care coordination for children and youth with special health care needs: A descriptive, multisite study of activities, personnel costs and outcomes. Pediatrics, 122, e122–e216. Antonelli, R. C., McAllister, J., & Popp, J. (2009). Developing care coordination as a critical component of a high performance pediatric health care system: Forging a multidisciplinary framework for pediatric care coordination. Washington, DC: The Commonwealth Fund. Benedict, R. E. (2008). Quality medical homes: Meeting children’s needs for therapeutic and supportive services. Pediatrics, 121, e127–e134. Berry, S., Soltau, E., Richmond, N., Kieltyka, R., Tran, T., & Williams, A. (2010). Care coordination in a medical

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Epilogue: Advancing Health Outcomes and Social Participation for CSHCN

22

David Hollar

Abstract

Children with special health care needs (CSHCN), including children with disabilities, represent a large percentage of children in every human society. CSHCN represent just another aspect of human variation or diversity, with focal conditions arising from a multitude of genetic and/or environmental causes, many of which are incompletely understood at present. As outlined in the chapters of this book, considerable medical, public health, and educational research is being conducted worldwide to better understand the etiology of numerous conditions, to identify effective treatments that improve health outcomes and quality of life for CSHCN, and to provide safe, healthy environments where children with and without disabilities can positively interact socially so that CSHCN can grow and develop into independent and productive adult lives wherever possible.

Children with special health care needs (CSHCN), including children with disabilities, represent a large percentage of children in every human society. CSHCN represent just another aspect of human variation or diversity, with focal conditions arising from a multitude of genetic and/or environmental causes, many of which are incompletely understood at present. As outlined in the chapters of this book, considerable medical, public health, and educational research is being conducted worldwide to better understand the etiology of numerous conditions, to identify effective treatments that improve health D. Hollar () University of North Carolina at Chapel Hill, 7530 Chapel Hill, NC 27599, USA e-mail: [email protected]; [email protected]

outcomes and quality of life for CSHCN, and to provide safe, healthy environments where children with and without disabilities can positively interact socially so that CSHCN can grow and develop into independent and productive adult lives wherever possible. Each of us will encounter disability and health care needs at some point during our lives. Consequently, disability pervades all aspects of society and should not be assumed fallaciously to represent deviations from normalcy. CSHCN as well as adults with disabilities do not have deficiencies that “need to be fixed.” Instead, health providers, educators, family members, peers, neighbors, and other members of the community should have constructive roles in accepting and embracing CSHCN as equals. The overwhelming majority of CSHCN can follow their own,


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unique developmental pathways toward and into adulthood, where they can pursue higher education and achieve success in professional careers. They can be artists, scientists, and leaders in our communities, if we help them to pursue their dreams (Stepanek 2001). At the national conference of the National Center on Birth Defects and Developmental Disabilities (NCBDDD) on July 2004, all conference participants received a copy of one of Mattie Stepanek’s books of poetry, only months after Mattie passed away from Duchenne Muscular Dystrophy. His brilliant poems (Stepanek 2001; Mattie J.T. Stepanek Foundation, www.mattieonline.com) illustrate the hopes and aspirations of many CSHCN. Like the dedication to this handbook, which refers to SaintExupery (1943), Stepanek’s work calls for the realization of human potential in all of us. Nevertheless, realities currently do not match our goals. As discussed in several chapters, children with disabilities face numerous barriers to full participation in society because of their special health care needs, particularly by misperceptions made by well-intended people in their environment as well as individuals who incorrectly view CSHCN as burdens upon society. CSHCN face not only their disability but these fallacious misperceptions, lack of access to community activities, lack of access to educational and career opportunities, lack of physical access to buildings, needs for transportation and time accommodations, etc. Children and adolescents with disabilities are at risk for secondary conditions arising from their primary condition and are at risk for being bullied and exposed to substance abuse. Adults with disabilities are significantly less likely to be employed compared with persons without disabilities, and when they are employed, they are significantly underemployed, even when they possess higher education degrees. As part of this vicious cycle, more children and adults with disabilities come from lower socioeconomic demographic strata. All of this occurs despite numerous federal and state legislations to increase social opportunities for CSHCN and persons with disabilities. CSHCN and their families ultimately have to deal with their condition as well as compounded social and environmental barriers.

D. Hollar

Many of the chapters have emphasized the biopsychosocial model of disability outlined in the World Health Organization’s International Classification of Functioning, Disability, and Health—Children and Youth versions (ICF-CY) as well as the extensive health goals outlined in Healthy People 2010 and 2020. The ICF emphasizes the intersection of health conditions, personal and environmental (e.g., family, peers) factors, and the affected activities and participation by the child in society. Healthy People 2010 and 2020 include Section 6 on Disability and Secondary Conditions as well as Section 16 on Maternal, Infant, and Child Health, among other relevant focal areas. Goals in Healthy People 2010 and 2020 concentrate in these two areas but encompass goals across multiple sections. Public health researchers, policy makers, and CSHCN disability advocates use these biopsychosocial models to develop intervention health and education and vocational rehabilitation programs, assistive devices, and health care interventions to help full community integration and health assistance for children with disabilities. Each CSHCN develops through life in their own way just as any person does, although CSHCN face additional barriers. The ICF biopsychosocial model identifies barriers as well as facilitators that can help CSHCN to positively develop in their varied environments. For example, Martin (Chap. 3) discusses the importance of CSHCN developing positive self-concepts that can motivate them for success as they grow older. Turchi and Mann (Chap. 21) illustrate the importance of the medical home and continuity of family care; regular pediatrician and later family physician and other health specialist visits are very important to optimize health outcomes. The preceding chapters have identified numerous conditions, best practice treatments and interventions, and prognoses for many types of disabilities. However, they only cover some of the more prevalent conditions experienced by CSHCN. Of particular note are genetic and metabolic conditions (Chaps. 13–15), which increase in number monthly as new mutations, chromosome deficiencies, and epigenetic influences on gene regulation/biochemical pathways are dis-

22 Epilogue: Advancing Health Outcomes and Social Participation for CSHCN

covered. Many of the genetic or metabolic conditions are so rare that only a few children with these cases might be diagnosed in an entire country in any given year. Furthermore, the discovery of new conditions has greatly outpaced the development of validated treatments. As the staggering complexity of the human genome and its yet to be thoroughly elaborated regulatory networks are studied during the coming decades, scientists will identify so many potential conditions that every person will be affected with some diagnosable, genetically influenced condition at some point during the lifespan. Despite these advances, medical research still faces the daunting task of treating conditions that have afflicted humans for thousands of years. Walters et al. (Chap. 10) emphasize a critical point that, despite considerable pharmaceutical drug discovery, there is inappropriate treatment of children with tuberculosis using adult drugs, when children-specific drugs are needed. This is further compounded by the elevated risk for secondary tuberculosis among children with HIV in the widespread African AIDS epidemic. The pharmaceutical industry needs to focus on this need, particularly for a disease that has been a major killer of humans worldwide throughout recorded history and in light of the increased

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spread of antibiotic-resistant Mycobacterium tuberculosis strains. Therefore, disability research involves tens of thousands of educational, health, medical, and engineering specialists worldwide who address different facets of disability. The preceding chapters provide several major focal areas by leading experts on children with disability and special health care needs. The reader can follow the described model programs in assisting CSHCN and/ or consult the many international public health resources that are outlined in these chapters. Cumulatively, the reader can utilize the resources in this handbook to further disability research and policy advocacy in different sociocultural venues. We encourage the reader in these efforts, and most importantly, when working with CSHCN, to give the children and their families control over the process, for they have the best experience and stand to benefit most from this important work.

Reference Stepanek, M. J. T. (2001). Journey through heartsongs. New York: VSP Books/Hyperion. Saint-Exupery, A. de (1943). Le petit prince. New York: Harcourt Brace & Company.

Glossary

Abduction Movement of the eye away from the midline Accommodation Changes to the width of the natural lens with resultant change in focus Acuity Measure of visual resolution Adduction Movement of the eye toward the midline Amblyopia Poor vision due to failure to attain visual potential Angle Iridocorneal area of drainage of aqueous humor Anisometropia Significant interocular difference in refractive state Astigmatism Differing refractive powers in the different optical planes of an eye Auricles Outer flap of cartilage forming the external portion of the ear Dysmorphia Minor physical anomalies of the size or shape of a physical feature, primarily of the face and skull Dysplasia Abnormality of development resulting in malformation of structures or function of tissue Epicanthal folds Small folds of skin present on the inner eyelid near the nose (may be present on upper or lower eyelid) Esotropia Ocular misalignment in which abnormal eye is directed inward Exotropia Ocular misalignment in which abnormal eye is directed outward Extorsion Outward rotation of the eye Fovea Central area of the macula with the highest density of photoreceptors: essential for detailed acuity

Hemangioma Benign swelling or growth of endothelial cells and blood vessels, usually strawberry or red in color Hypermetropia See hyperopia Hyperopia Long-sightedness Hypertropia Ocular misalignment in which abnormal eye is directed upward Hypoplasia Underdevelopment or incomplete development of a tissue or organ Hypotropia Ocular misalignment in which abnormal eye is directed downward Intorsion Inward rotation of the eye Limbus Area where the cornea, iris and sclera meet LogMAR Logarithmic scale of acuity—an increase of 0.1 is 10 times better vision Macula The central retinal area with a higher density of photoreceptors and consequently better resolution Menigomyelocele Protrusion of the membranes that cover the spine, generally associated with spina bifida Microcephaly Head circumference below the third percentile of a child’s age and sex Micrognathia Underdevelopment of the lower jaw Myopia Short-sightedness Occlusion therapy See penalisation therapy Optokinetic reflex Involuntary refixation movement of the eyes used to keep a fix on moving images Optometrist Associated specialist dealing with refractive disorders

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424

Orthoptist Associated specialist dealing with disorders of eye movement and binocular vision Palmar flexion crease Normal grooves across the palm that accommodate flexing of the hand Palpebral fissure Horizontal opening of the eyes Penalisation therapy Temporary weakening of vision in stronger eye to allow weaker eye to strengthen in unilateral amblyopia Petus excavtum Caved-in or sunken appearance of the chest and sternum Philtrum Ridge or groove running vertically from the base of the nose to the upper lip Prognathism Overextension of the upper or lower jaw (ie, overbite or under bite) Ptosis Drooping eyelid(s) Red reflex The unobscured orange glow of light reflected from the retina (also tapetal reflex)

Glossary

Refraction Bending light rays in order to focus them Resolution Discrimination between edges in space Retinoscopy Determination of refractive power using the retinal reflex Sensitive period Window of development during which experience has an impact on development Strabismus Ocular misalignment Teratogen Toxic substance that a fetus is exposed to during the prenatal period which causes malformation(s) Trabecular meshwork System of drainage sieves within the iridocorneal angle Vermillion boarder Upper border/ridge of the upper lip Xerophthalmia Severely dry eye, resulting in corneal scarring

Index

3-Methylcrotonyl coenzyme A carboxylase deficiency, 282 A AAC, 24–31, 33, 35–44 Absorptive filters, 161 Academic, 28, 40, 48, 50, 51, 55, 60–63, 75, 161, 243, 359, 384, 387, 389 Accessibility, 90, 97, 98, 109, 127, 174, 175, 193, 203, 336, 371 Accommodations, 54, 58, 63, 76, 81, 82, 175, 248, 350, 359, 360, 387, 388, 413, 420 Accountable care organizations (ACOs), 414 Acquired brain injury (ABI), 342 Activities of daily living (ADL), 93, 100, 101, 145, 155, 165, 309, 347 Activity limitation, 24, 88, 94, 100, 174, 309, 322, 325, 327, 329, 330, 335, 337 Acylcarnitine, 263 ADA (dental), 175, 186 ADA (disability), 175, 312, 323 ADHD, 39, 48–53, 55–57, 83, 343, 344 Adherence, 55, 191, 200, 202–204, 206, 207, 223, 284 Adolescents, 12, 43, 76, 202, 223, 326, 341, 345 Advocacy, 2, 12, 14, 15, 88, 98, 101, 111, 112, 175, 252, 336, 370, 421 Advocates, 2, 5, 8, 9, 11, 12, 15, 19, 20, 166, 183, 185, 186, 203, 303, 317, 381, 392, 420 Aerosolisation, 193, 194 Affordable Care Act, 13, 16, 18, 19, 173, 176, 179, 186, 400 Aggression, 29, 39, 50, 247, 291, 385, 387 Aids, 40, 41, 136, 145, 154, 157, 160, 165, 177, 355, 405 AIDS, 108, 122, 421 Alcohol, 232–234, 236, 245, 246, 250, 251, 365, 376 Alcohol and other drug (AOD), 343, 356, 357, 362, 366 Alcohol, tobacco and other drugs (ATOD), 354–360, 363, 364, 366 All Handicapped Children Act of 1975, 7, 312 Allostatic load, 293 AMA, 3–5 Amblyopia, 132, 133, 139, 147, 149, 150 American Academy of Family Physicians (AAFP), 404

American Academy of Pediatrics (AAP), 379, 404, 411 American College of Physicians (ACP), 404 American Dental Association\tSee ADA (dental), 175 American Medical Association\t See AMA, 2 American Osteopathic Association (AOA), 404 Americans with Disabilities Act\t See ADA (disability), 312 Amino acid, 260, 263, 275, 276, 278, 280–282, 284, 295, 302 Amino acid conditions, 275 Amniotic band syndrome, 300 Amputation, 96 Anencephaly, 299 Anophthalmia, 299 Anotia, 300 Antiretroviral, 198, 199, 204, 206 Anxiety, 60, 62, 76, 77, 79, 80, 83, 101, 155, 165, 166, 242, 247, 327, 384, 403 Aortic valve stenosis, 298 Argininemia, 276, 278 Arginosuccinic lyase deficiency, 276, 278 Arthritis, 89, 96, 101, 218 Arthrogryposis, 96 ASL, 109, 175, 180, 358 Ataxia, 215, 217 Atrial septal defect, 298, 299 At-risk, 232, 250, 389–391, 393 Atrophy, 148, 154, 221, 336 Attention, 4, 18, 29, 40, 48, 91, 95, 98, 102, 114, 137, 156, 176, 224, 233, 234, 240, 241, 283, 308, 309, 359, 363, 365, 384, 387, 392 Attention deficit hyperactivity disorder\tSee ADHD, 273 Attribution, 51, 57, 61 Audism, 108 Autism spectrum disorders (ASD), 20, 27, 29, 30, 327, 344, 376 Autoimmune, 218, 219, 283 B BabyNet, 30 Bacille Calmette-Guerin (BCG), 197, 202, 203, 205 Bacteria, 193 Bandura, Albert, 48, 62, 291

D. Hollar (ed.), Handbook of Children with Special Health Care Needs, DOI 10.1007/978-1-4614-2335-5, © Springer Science+Business Media New York 2012

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426 Barriers, 97, 117, 126, 172, 411 Basal ganglia, 217, 233, 234, 239 Behavioral, 54, 61, 62, 248, 344 Biliary atresia, 301 Biobank, 262–266 Biochemical pathway, 276, 280, 281, 284, 420 Biopsychosocial, 290, 291, 420 Biotinidase, 283 Birth defect, 10, 232, 272, 293, 294, 296–298, 302 Bladder extrophy, 300 Blaming, 112 Blastocyst, 295 Blindness, 140 Body mass index (BMI), 343 Bone, 92, 295–297, 299, 302, 342, 348 Braille, 163, 166, 371 Brain, 233, 234, 299, 342, 364 Bully, 384, 389, 390 Bullying, 384–387 C Carbamoyl phosphate synthetase deficiency, 277 Carnegie embryonic stages, 296 Carnitine palmitoyl transferase deficiency, Type I, 280 Carnitine palmitoyl transferase deficiency, Type II, 280 Carnitine uptake defect, 280 Carnitine/Acylcarnitine translocase deficiency, 280 Cataract, 149 Centers for Disease Control and Prevention (CDC), 95, 232, 311, 321, 376 Central nervous system (CNS), 202, 214, 215, 217, 220, 225, 226, 232, 233, 235, 238, 239 Cerebellar syndrome, 215 Cerebral Palsy, 160, 342, 349 Cerebrospinal fluid, 216 Cerebrum, 299 Chickering, Arthur, 292, 293 Child, 4, 15, 16, 30, 43, 77, 310, 312 Choanal atresia, 300 Chronic Care Model, 401 Chronosystem, 384 Citrullinemia, 276, 278 Classroom, 39, 54 Cleft lip, 300 Cleft palate, 300 Clinical laboratory standards, 264 Clinical trials, 349, 375, 379 Coarctation of the aorta, 298 Cognition, 48, 62, 99, 224, 225, 323 Cognitive, 54, 224, 290, 292 Co-management, 406 Common truncus arteriosus, 298 Communication, 24, 25, 28, 30, 35, 37, 40, 126 Community, 5, 6, 9, 175, 195, 363, 379 Community-based research, 380 Comorbidity, 48, 52, 90 Competence, 50–53, 56, 57 Compliance, 166, 223 Computer assisted personal interviews (CAPI), 320, 324 Computer assisted telephone interviews (CATI), 320

Index Congenital adrenal hyperplasia (CAH), 283 Congenital hypothyroidism, 260, 282 Consanguinity, 274 Consilience, 303 Construct validity, 377 Content validity, 377 Contrast sensitivity, 134, 157 COPD, 171 Corneal, 146, 149 Corpus callosum, 217, 233, 239 Craniofacial, 174, 177, 182 Crippled, 4, 7–9, 14, 17 Criterion validity, 377 Cryptorchidism, 301 CSHCN, 186, 278, 280, 283–285, 290, 291, 293, 302, 303, 310–312, 317, 323–325, 328–330, 370–372, 375–381, 404, 409, 410, 419, 420 Cultural, 74, 99, 109, 119, 127, 292, 381, 405, 409–411 Culture, 204, 205, 409, 413 Cystic Fibrosis, 283 D Danish newborn screening, 260 Deaf, 108, 113, 116–118, 122–125, 127, 358 Deafness, 108, 109, 113, 117, 118, 145, 147, 283, 302, 326, 361 Decision making, 8, 389, 404, 405, 410, 413 Deconditioning, 336, 341, 347 Demyelination, 214, 215, 217, 218, 220, 221, 225, 226 Dental hygiene, 172 Depression, 3, 4, 99, 166, 226 Development (growth), 10, 12, 14, 17, 118, 302 Development (programs), 4 Developmental delay, 7, 20, 27, 44, 240, 376 Developmental disabilities, 6, 172, 173, 178, 182, 232, 246, 247, 250, 342–344, 347, 348 Diabetes, 37, 148, 171, 219, 267, 347, 401 Diagnosis, 7, 150, 173, 200, 206, 234, 246, 344, 402 Diagnostic and statistical manual of mental disorders DSM-IV, 49, 293 Diaphragmatic hernia, 300 Differentiation, 217, 242, 273, 282, 294, 295, 303 Disability, 90, 116, 225, 290, 293, 311, 312, 326, 327, 336, 337, 376, 387 Disadvantaged, 250 Discrimination, 82, 108, 114, 115, 117, 118, 122, 127, 175, 387 Dopamine, 49 Down syndrome, 31, 170, 174, 182, 232, 250, 345, 376 Dried blood spot samples (DBSS), 260, 263–267 Duchenne muscular dystrophy, 420 Dysarthria, 24, 31 Dysmorphia, 236 E Early intervention services, 166, 343, 376, 402, 407 Ebstein’s anomaly, 298, 299 Education, 14, 17, 18, 39, 41, 114, 122, 123, 127, 174, 181, 184, 245, 371, 386, 413

427

Index Education Longitudinal Study of 2002, 320 Electronic health information, 284 Encephalocele, 299 Encephalopathy, 215, 217 Endocardial cushion defect, 299 Endocrine, 234, 238, 297 Endodontist, 171 Environment, 97 Epidemiology, 15, 49, 140, 401 Epigenetics, 274 Epispadias, 301 EPSDT, 7, 11, 14, 16, 17, 173, 402, 411 Epstein-Barr virus, 219 Erikson, Erik, 290, 291, 293 Esophageal atresias, 301 Esotropia, 139 Ethnic, 142, 399, 405, 411 Ethnicity, 326, 345, 387 Ethnographic, 374, 379, 380 Exosystem, 384 Exotropia, 139 Experimental, 237, 372–374 Eye, 25, 33, 36, 132, 133, 135–137, 139, 144, 146, 147, 149, 150, 155, 156, 158–160, 296 F Facilitators, 97, 292, 293, 420 Family, 98, 176, 249, 284, 322, 343, 344, 354, 360, 400, 403, 404, 411 Family Educational Rights and Privacy Act (FERPA), 370 Family voices, 12, 274, 297 Family-based intervention, 393 FAS, 232, 234, 236–242, 244–246, 249–251 Fasting, 279, 280 Fatigue, 100, 225 Fatty acid disorders, 260, 278, 280 Fear of failure, 58 Fetal alcohol spectrum disorders (FASDs), 232, 245, 252 Fetal alcohol syndrome, 232 First trimester, 294–297, 303 Folic acid, 302 Fracture, 348, 349 Fragile X, 31 Freud, Sigmund, 290, 291 G Galactosemia, 283 Gastroschisis, 300 Gastrula, 295 Gender, 345, 346 Genetic counseling, 284 Genetic testing, 265 Genetics, 261, 273, 274, 284, 285 Gibson, Eleanor, 291 Gilligan, Carol, 291 Glare, 161 Glaucoma, 149, 156, 157, 160 Global deficits, 239 Globe anomaly, 150

Glucose metabolism, 234 Glucose-6-phosphate dehydrogenase deficiency (G6PDD), 280 Glutaric acidemia, 281 H Health insurance portability and accountability act (HIPAA), 370 Health resources services administration, 88, 174 Healthy people, 10, 317, 322 Hearing, 24, 108, 147, 300 Heart, 298 Heart disease, 4, 171, 412 Heath, Douglas, 292 Hemiplegia, 215 Hemoglobinopathies, 282 High school longitudinal study of 2009, 320 HIV, 108, 122, 190, 191, 194, 195, 197–200, 202–207, 421 Homocystinuria, 275 Hospitalization, 4, 9, 92, 194, 225, 324, 329, 348, 349, 409 Households, 15, 175, 191, 195, 197, 317, 318, 322, 324, 327, 379 Human variation, 285, 419 Hydrocephalus, 300 Hydroxymethylglutaric lyase deficiency, 282 Hyperglycemia, 346 Hyperlipidemia, 346 Hypermethioninemia, 275 Hyperopia, 146 Hyperopia\t See Refractive error, 146 Hyperornithinemia, 276, 277 Hypertension, 346 Hypertropia, 139 Hypoascorbemia, 283 Hypoplasia, 148, 154, 236, 237, 301 Hypoplastic left heart syndrome, 299 Hypospadias, 301 Hypothalamus, 234 Hypotropia, 139 I IEP, 8, 40, 41, 44, 155, 163, 164, 166 Immune deficiency, 202, 266 Impairment, 133, 142, 155 In utero, 232–236, 239, 240, 242, 243, 249–252 Inborn errors of metabolism, 274 Inclusion, 172 Inclusive, 122–124, 127 Independence, 90, 98 Individualized Family Service Plan (IFSP), 10, 18 Individuals with Disabilities Education Act (IDEA), 10, 39, 312 Inequality (ies), 108, 114, 116, 117, 127 Injury, 342 Insurance, 12, 13, 42, 172, 330 Intellectual disability (ID), 24, 28, 88, 173, 176, 239, 344, 345, 348 Interferon, 205, 221

428 Internal (institutional) review board (IRB), 320, 371 International Classification of Functioning, Disability, and Health Children and Youth Version (ICF-CY), 88, 420 Isobutyryl coenzyme A dehydrogenase deficiency, 282 Isoniazid, 200, 203 Isovaleric acidemia, 281 J Joint, 24, 91, 401, 404, 414 K Kegan, Robert, 292, 293 Kidney, 150, 276, 280–282, 295–297, 301 Kohlberg, Lawrence, 291, 293 Krabbe syndrome, 284 L Language, 24, 25, 29, 30, 37, 43, 175, 180, 358 Large intestinal atresia, 301 Large intestinal stenosis, 301 Learning disability (ies), 20, 48, 60, 77, 81, 123, 164, 232, 240, 325, 327, 329, 343, 361 Legal, 9, 19, 101, 116, 117, 178, 235, 245, 267, 357, 359, 361 Lenses, 136, 139, 147, 149, 150, 159 Limitations, 15, 24, 77, 80, 96, 108, 112, 133, 145, 154, 171, 172, 194, 220, 322, 323, 343, 358 Linguistic, 109, 115, 360, 405 Long/very long-chain acyl-coenzyme A dehydrogenase deficiency (LCADD/VLCADD), 278, 279 Long-chain hydroxy acyl-coenzyme A dehydrogenase deficiency (LCHAD), 278, 279 Lung, 296 Lysosomal storage disorder, 266, 267 M Macrosystem, 384 Magnification, 159 Magnifiers, 160 Mainstreaming, 164 Malnutrition, 203 Maple syrup urine disease (MSUD), 275 March of dimes, 274, 297 Maternal, 199, 376, 402, 403, 420 Maternal and child health bureau, 12, 15, 312, 317, 318, 322, 328, 329 Medicaid, 6–9, 11, 13, 14, 16, 17, 41, 42, 171–173, 175, 179, 180, 183–186, 322, 380, 410 Medical expenditure panel survey (MEPS), 324, 325, 329, 330, 380 Medical home, 303 Medicalization, 118 Medically underserved population (MUP), 186 Medicare, 6, 13, 172, 179, 183, 322, 323 Medication, 57, 345 Medium-chain 3-ketoacyl-coenzyme a thiolase (MCKAT) deficiency, 278, 280

Index Medium-chain acyl CoA dehydrogenase deficiency (MCAD), 261 Medium-chain acyl-coenzyme A dehydrogenase deficiency (MCADD), 278, 279 Memory, 49, 54, 224, 233, 240, 248 Meningitis, 28, 204 Mental retardation, 5, 6, 82, 182, 260, 261, 275, 277, 282, 302, 348, 362, 412 Mesosystem, 384 Metabolic, 274 Metabolic pathways, 274, 276, 278, 281, 282 Methylmalonic acidemia (cblA type), 281 Methylmalonic acidemia (cblB type), 281 Microsystem, 384 Microthalmia, 299 Microtia, 300 Millennium development goals, 114–116, 123, 127 Mitochondrial trifunctional protein deficiency, 278, 280 Mitochondrion, 278–281 Mobility, 88, 96, 100, 164 Moral reasoning, 291 Morbidity, 50, 224 Mortality, 3, 8, 115, 140, 143, 148, 190, 191, 199, 202, 203, 265, 293, 299, 301, 348 MRI, 214, 215, 217, 218, 224, 233, 234 Multidimensional fatigue scale, 225 Multiple sclerosis, 214 Muscular dystrophy, 96 Mycobacterial, 202 Mycobacterium tuberculosis, 190, 192, 205, 421 Myelitis, 214, 215 Myopia, 146, 147 Myopia\t See refractive error, 146 N National birth defects prevention network, 297 National Center for Biotechnology Information, 274 National Center for Birth Defects and Developmental Disabilities, 297 National Center for Education Statistics, 311, 370 National Center for Health Statistics, 88, 173, 311, 317, 319, 322, 370, 379 National Center for Medical Home Implementation, 408 National Health and Nutrition Examination Survey (NHANES), 331, 343 National Health Interview Survey (NHIS), 322 National Institute of Child Health and Human Development (NICHHD), 311, 319 National Institute on Disability and Rehabilitation Research, 341 National Longitudinal Study of Adolescent Health (Add Health), 319 National Organization for Rare Disorders, 297 National Screening Committee (UK), 144, 261 National Survey of Children with Special Health Care Needs (NS-CSHCN), 317, 325, 379 National Survey of Children’s Health (NSCH), 318, 325 Neonatal intensive care, 260, 400 Neurodisabilities, 204 Neuroimaging, 233

Index Neurological, 142, 145, 239, 300 Neuromuscular, 31, 89, 92, 177, 281, 349 Neurotransmitter, 49 Newborn screening (NBS), 260, 261, 263, 264 Nitrogen metabolism, 276, 278 No Child Left Behind Act, 384 Nutrition, 197, 284, 302, 343, 344 O Obese, 341, 342, 344, 346, 350 Obesity, 93, 337, 341, 342, 344–347 Occupational therapy, 8, 164 Ocular albinism, 156, 160, 161 Omnibus Budget Reconciliation Act (OBRA), 11, 19, 404 Omphalocele, 301 Online Mendelian inheritance in man, 274, 275, 278 Ophthalmic, 132, 133, 136, 139, 144, 145, 149, 150 Ophthalmologist, 136, 138, 139, 144, 154, 245 Optic nerve, 142, 148 Optokinetic reflex, 137 Optometrist, 136, 139, 154 Oral, 31, 171, 182, 185, 187 Organic acid disorders, 281 Ornithine transcarbamylase deficiency, 276, 277 Orthodontist, 171 Orthoptists, 136 Osteoporosis, 92 Overweight, 341, 344 Oxoprolinuria, 275 P Pain, 99, 100, 349, 357 Palpebral fissure, 236, 237 Parent, 42, 76, 77, 248 Participation, 42, 82 Patient’s rights, 264 Patient-centered, 184, 404 Patient-centered primary care collaborative (PCPCC), 414 Pediatric, 2, 90, 166, 178, 181, 182, 184, 221, 349 Pediatrician, 20 Perimetry, 159 Perinatal, 200 Periodontist, 171 Perry, William, 292 Personal bests, 57, 59 Phenylketonuria (PKU), 260 Philtrum, 236, 237 Photochromatic, 162 Physical disability, 96, 97, 99–101, 155, 225, 321, 325, 326, 342, 343 Physician practice connections®, 414 Piaget, Jean, 290 Pituitary, 148, 283, 295, 297 Plan do study act (PSDA) cycle, 408 Pneumonia, 202, 204 Policy, 1–3, 14, 19, 20, 116, 251, 284, 285, 330, 343, 403–406, 408, 410, 411

429 Postnatal, 132, 296 Poverty, 6, 186, 191, 196, 329, 330 Pregnancy, 376 Premoral stage, 291 Preoperational, 290 Prescription, 15, 30, 31, 136, 247, 275, 302, 310, 323, 330, 356, 357, 365 Pressure sores, 91 Prevalence, 15, 48, 88, 250, 277, 324, 325, 343–345, 347 Prevention, 8, 143, 192, 193, 196–198, 200, 203, 204, 245, 350, 355, 359–361, 366, 390 Prevention through Alternative Learning Styles(PALS) Program, 362–366 Programs, 12, 16, 166, 249, 261, 342, 389 Pulmonary valve atresia, 298, 299 Pulmonary valve stenosis, 298, 299 Pulmonology, 400, 405 Pupillary, 137 Q Quality, 63, 77, 79, 82, 91, 99, 122, 123, 174, 225, 226, 311, 403, 407, 408, 414 Quality of life (QoL), 74, 77–83 Questionnaire for identifying children with chronic conditions, 310 R Race, 326 Rectal atresia, 301 Rectal stenosis, 301 Refractive error, 146 Reinforcer, 384 Reliability, 51, 79, 310, 372, 377 Renal agenesis, 301 Renal hypoplasia, 301 Research, 26, 29, 37, 51, 52, 59, 61, 63, 182, 233, 247, 249, 266, 302, 354, 356, 358, 360, 371, 372, 374, 375, 378, 381 Respiratory, 348 Response to intervention (RtI), 389 Retina, 132, 135, 138, 146, 159, 296 Retinal disorders, 147 Retinoblastoma, 148 Retinopathy of prematurity (ROP), 144, 147, 148 Retinoscopy, 159 Rights, 15, 82, 95, 108, 115, 116, 118, 119, 123, 125, 127, 175, 370 Risk, 215, 251, 311, 312, 342, 348, 356, 376 Ritalin, 76, 83 S Safe school initiative, 386 School, 41, 123, 124, 127, 144, 181, 225, 320, 342–344, 357, 363 Scotoma, 156 Screening, 7, 144, 173, 260–264, 274, 376, 402 Second trimester, 297 Secondary conditions, 90, 337, 349, 350 Self concept, 48, 50

430 Self-esteem, 96 Self-worth, 52, 53, 57 Sensitivity (statistics), 217, 218 Sensorimotor, 290 Serotonin, 49, 234, 295 Sheppard Towner Act, 3, 5 Short-chain acyl-coenzyme A dehydrogenase deficiency (SCADD), 278, 279 Short-chain hydroxy acyl-coenzyme A dehydrogenase deficiency (SCHADD), 278, 279 Sickle cell anemia, 37 Sign language, 31, 108–110, 113, 115–117, 119, 124, 125, 127, 405 Skinfold, 93, 346 Skinner, B.F., 61, 292 Snellen eye chart, 133, 155 Social, 6, 82, 90, 116, 165, 197, 226, 241, 244, 291, 320, 337, 357, 358, 378, 385, 391 Social competence, 358 Social isolation, 97, 117, 341, 347 Social security, 250, 312, 323 Social Security Act, 2–4, 7, 311, 380 Social-ecological framework, 384, 385, 389 Special education, 27, 40, 321, 323, 327, 329, 343, 362, 363, 376, 387, 389 Speech, 24, 25, 400 Speech-language pathology, 24, 44 Spina bifida, 89 Sputum, 193, 194, 205 SSRI, 247 Standards for educational and psychological testing, 371 Stargardt’s disease, 156 State and local area integrated telephone survey (SLAITS), 317, 318 State Children’s Health Insurance Program (SCHIP), 13 Stigma, 89, 100, 108 Storage policy, 264 Stress, 90 Substance abuse, 354 Suicidal, 311, 384 Suicide, 50, 76, 325–327, 343 Symptoms, 49, 55, 275, 277–283, 299 T Tandem mass spectrometry, 266 TB, 190–197, 199, 200, 202–207 Teacher, 58, 63, 76, 145, 155, 359, 360, 384, 390 Teamlet model, 401 Telescopes, 160 Teratogen, 232, 236, 251 Test of gross motor development, 346 Tetralogy of Fallot, 298, 299 Thallasemia, 282 Third trimester, 296, 297 Title V, 2–11, 13, 14, 16, 17, 19, 311, 317, 319, 380, 404 Tobacco, 365 Toxoplasmosis, 265 Tracheoesophageal fistula, 301

Index Tracheostomy, 24 Transgenerational, 274, 294 Transposition of the great arteries, 298 Traumatic brain injury (TBI), 31, 337 Treatment, 53, 56, 92, 94, 147, 149, 150, 199, 206, 221, 222, 246, 277, 281, 283, 402 Tricuspid valve atresia and stenosis, 298, 299 Trisomy 13, 302 Trisomy 18, 302 Trisomy 21 (Down’s syndrome), 147 Trisomy 21 (Downs syndrome), 302 Trophoblast, 295 Tuberculin skin test, 202, 205 Tuberculosis, 190, 193 Tyrosinemia, 275, 276 U U.S. Census Bureau, 88 U.S. Department of Education, 311, 341 UN Convention on rights of persons with disabilities, 95 UNESCO, 122, 123 UNICEF, 123 Uniform screening panel (US), 261 Universal ethical principles, 291 Urea cycle, 276–278 Uveal disorders, 150 V Vaccine, 197, 202, 207 Validity, 372, 377 Varicella Zoster virus, 219 Ventricular septal defect, 298 Vermillion, 236, 237 Victimization, 384, 385 Vision, 31, 132, 155, 159, 163 Visual, 133, 137, 138, 140, 142, 145, 155, 156, 158, 163, 165, 166, 241 Visual acuity, 133, 135, 155, 156, 159, 165 Visual field, 134, 137, 158 Visual rehabilitation, 155 Vitamin A, 143, 154 Vitamin D, 219 Vygotsky, Lev, 60, 291 W Weight, 55, 83, 92–94, 142, 204, 223, 238, 297, 302, 341–344, 347, 348, 378 Wellness, 350, 407 Wilson, Edward O, 290, 292 World Health Organization (WHO), 74, 88, 110 Y Youth Risk Behavior Surveillance System (YRBSS), 321 Z Zero tolerance policy, 390

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