Prader-Willi Syndrome, Down Syndrome, Rett Syndrome, Williams Syndrome, Tuberous Sclerosis, Fragile X Syndrome, and 22Q11 Deletion Syndrome, Each With
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Jennifer A. Accardo Editor Sleep in Children with Neurodevelopmental Disabilities An Evidence-Based Guide 123 Sleep in Children with Neurodevelopmental Disabilities Jennifer A. Accardo Editor Sleep in Children with Neurodevelopmental Disabilities An Evidence-Based Guide Editor Jennifer A. Accardo Departments of Pediatrics and Neurology Virginia Commonwealth University School of Medicine Richmond, VA USA ISBN 978-3-319-98412-4 ISBN 978-3-319-98414-8 (eBook) https://doi.org/10.1007/978-3-319-98414-8 Library of Congress Control Number: 2018957091 © Springer Nature Switzerland AG 2019 This work is subject to copyright. All rights are reserved by the Publisher, whether the whole or part of the material is concerned, specifically the rights of translation, reprinting, reuse of illustrations, recitation, broadcasting, reproduction on microfilms or in any other physical way, and transmission or information storage and retrieval, electronic adaptation, computer software, or by similar or dissimilar methodology now known or hereafter developed. The use of general descriptive names, registered names, trademarks, service marks, etc. in this publication does not imply, even in the absence of a specific statement, that such names are exempt from the relevant protective laws and regulations and therefore free for general use. The publisher, the authors, and the editors are safe to assume that the advice and information in this book are believed to be true and accurate at the date of publication. Neither the publisher nor the authors or the editors give a warranty, express or implied, with respect to the material contained herein or for any errors or omissions that may have been made. The publisher remains neutral with regard to jurisdictional claims in published maps and institutional affiliations. This Springer imprint is published by the registered company Springer Nature Switzerland AG The registered company address is: Gewerbestrasse 11, 6330 Cham, Switzerland To my husband Dwight, our children Fei and Joseph, and my parents In memory of Carole Marcus, MBBCh Preface While I was in training to work with children with neurodevelopmental disabilities, three girls changed the course of my career. One girl, with profound microcephaly, would not fall asleep despite her young mother’s best efforts. She literally ran tracks in her home’s carpet before settling for the night. Another girl had Angelman syndrome, and stayed up all night raising a ruckus. Her younger brother, who had attention-deficit/hyperactivity disorder (ADHD), was equally lively during the day, and their mother was at her wit’s end and exhausted. A third girl had ADHD herself and snored, and her mother was concerned about her sleep quality. Her overnight sleep study did not show obstructive sleep apnea, yet I did not understand the termi- nology of the study well enough to discern whether it revealed something else. I met these patients and their families with the knowledge that I did not yet understand how to help them, but the conviction that their lives would be better if their sleep could be improved. This book is for those engaged in the care of children with neurodevelopmental disabilities and sleep problems, whether by choice or chance. I am hopeful this may include both those who work in the world of pediatrics and the subspecialties that treat children with developmen- tal disabilities more specifically, and also practitioners of sleep medicine. The book is divided into four parts, with overlap among chapters, and perspectives that differ from author to author. To begin, in the first part, chapters on the impact of sleep problems in children with disabili- ties and the evaluation of sleep complaints set the stage. Major tools of the trade, polysomnog- raphy and actigraphy, each merit their own chapters. These detail the information which can be gleaned from and the limitations of these respective methods and provide special consider- ations for their use in children with neurodevelopmental disabilities as well. The International Classification of Sleep Disorders, Third Edition, lists 74 sleep disorders, isolated symptoms, and normal variants [1]. Yet sleep problems can be lumped into sleeping too little, sleeping too much, sleeping at the wrong time, or doing something abnormal during sleep (or some combination thereof). The second part of this book covers the major categories of sleep disorders as they apply in children with disabilities. Sleeping too little, manifested by falling asleep too late, waking inappropriately during sleep, waking too early for the day, or experiencing poor quality sleep, is treated in the chapter on insomnia—but is also a theme that runs throughout the book as a whole, as highlighted in chapters including, but not limited to, those on autism and behavioral interventions. Sleeping too much is ably covered in the chapter on hypersomnia. Sleeping at the wrong time is addressed in the circadian rhythm sleep disor- ders chapter. Abnormal activities during sleep could be considered to include parasomnias, sleep-related movement disorders, and even sleep-related breathing disorders. The third part highlights specific neurodevelopmental disabilities that reflect a variety of sleep disorders and treatment approaches. The autism chapter not only focuses on insomnia but introduces the ecological approach. Attention deficit hyperactivity disorder and sleep problems tend to be entwined, such that symptoms of one can be interpreted as symptoms of the other. The chapter on cerebral palsy explores the overlap of physical, neurological, and behavioral in terms of impact on sleep. Chapters on spina bifida and prematurity present the applied neuro- physiology of control of breathing. Specific genetic disorders with sleep manifestations are represented herein: Prader-Willi syndrome, Down syndrome, Rett syndrome, Williams syndrome, tuberous sclerosis, Fragile X syndrome, and 22q11 deletion syndrome, each with vii viii Preface somewhat different sleep phenotypes. The chapter on Down syndrome in particular revisits sleep disordered breathing and its long-term impact. Likewise, Prader-Willi syndrome has distinctive hypersomnia, a risk of sleep disordered breathing, and risk of sudden death poten- tially related to a common treatment. Some conditions that arise in the developmental period have the potential to derail both sleep and neurodevelopment: concussions and cancer. Other frequent comorbidities, namely intellectual disability, comorbid psychiatric disorders, and epilepsy, affect sleep across many disabilities. The fourth part details options for treatment. There are few easy answers for treatment, and certainly inadequate evidence, so the clinical knowledge and review of existing research shared here yields helpful guidance. Approaches to treatment include the behavioral and environmen- tal, as well as medications—and melatonin has its own well-deserved chapter. Occupational therapy approaches and exercise as a moderator of sleep are intriguing directions. Behavioral desensitization techniques both for diagnostic procedures (polysomnography) and treatments (continuous positive airway pressure) are addressed in detail. My quest for training in sleep medicine led me to Children’s Hospital of Philadelphia to learn from the indefatigable Carole Marcus via a sleep medicine fellowship. Carole had, in fact, pioneered the translation of sleep medicine into neurodevelopmental disabilities, with the publication of one of the first articles documenting the high risk of sleep disordered breathing in children and adults with Down syndrome [2]. Although she was a pediatric pulmonologist, she hypothesized and explored neurologic factors contributing to OSA via respiratory-related evoked potentials, in addition to the more recognized anatomic factors of adenotonsillar hypertrophy and obesity [3]. Even as OSA dominated people’s impressions of sleep medicine, its effects on learning and behavior provoked more research on the implica- tions of disrupted sleep for children. Carole and her colleagues also published the seminal Childhood Adenotonsillectomy Trial, to rigorously test the effects of surgical treatment of OSA on outcomes including measures of attention and executive function [4]. She died November 19, 2017. She was an extraordinary scholar and teacher who is terribly missed. Thank you to all the clinicians and researchers who have contributed reflections and recom- mendations here based on review of the medical literature and their shared experience. Your generosity is humbling. I have learned a tremendous amount from you as role models and col- leagues, and hope readers will as well. I acknowledge with gratitude and respect the many families with children who struggled to sleep, who shared their experiences and from whom I have continually learned. I thank Suresh Kotagal and Christopher Earley for introducing me to the world of sleep medicine and for invaluable encouragement at pivotal times, and to Beth Malow for unfailingly sharing her expertise and kindness. I salute my friends and colleagues at the Kennedy Krieger Institute in Baltimore, at which I had the priceless opportunity to develop a program for children with neurodevelopmental disabilities and sleep problems, in particular Valerie Paasch, my long-time psychology collaborator. Finally, to my father, Pasquale Accardo, who introduced me to the world of developmental pediatrics, and with whom I have had the privilege to work over the past 2 years at Virginia Commonwealth University: thank you and love