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David D. Eisenstat · Dan Goldowitz · Tim F. Oberlander · Jerome Y. Yager Editors Neurodevelopmental Pediatrics Genetic and Environmental Influences 123 Neurodevelopmental Pediatrics David D. Eisenstat • Dan Goldowitz Tim F. Oberlander • Jerome Y. Yager Editors Neurodevelopmental Pediatrics Genetic and Environmental Influences Editors David D. Eisenstat Dan Goldowitz Department of Paediatrics Department of Medical Genetics University of Melbourne University of British Columbia Parkville, VIC, Australia Vancouver, BC, Canada Tim F. Oberlander Jerome Y. Yager Department of Pediatrics and School Department of Pediatrics of Population and Public Health University of Alberta University of British Columbia Edmonton, AB, Canada Vancouver, BC, Canada ISBN 978-3-031-20791-4 ISBN 978-3-031-20792-1 (eBook) https://doi.org/10.1007/978-3-031-20792-1 © Springer Nature Switzerland AG 2023 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, expressed 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 Preface Long before COVID-19, NeuroDevNet, a Canadian multidisciplinary network of clinicians, scientists, and trainees, recognized an unmet need in the neurodevelopmental field, where common clinical problems in Pediatric Neurology and Developmental Pediatrics needed to be thematically linked with current concepts and translational research advances that applied evidence-based interventions harnessing advances in Developmental Neurosciences, Medical Genetics, Allied Health, and related disciplines. Addressing this need would con- tribute to improving the lives of children and families living with brain-based developmental disorders. In the pages that follow, we focus on advancing our understanding of the impact of genetics, environment, or both using three specific pediatric developmental disorders as exemplars of key neurodevelopmental conditions. Using autism/autism spectrum disorders (ASD; predomi- nantly an underlying genetic predisposition), fetal alcohol spectrum disorder (FASD; predomi- nantly an underlying environmental etiology), and cerebral palsy (CP; with combined genetic and environmental contributions), we discuss neurodevelopment spanning from molecular, behavioral, and contextual/family considerations. The first section of the textbook provides a comprehensive and up-to-date overview of the basic science of development of the brain, including sections on stem cells, epigenetics, and the influence of the perinatal environment. This is followed by sections 2–4 where the broader scope of the three selected developmental disabilities is discussed, including the impact of genetic, epigenetic, and environmental contexts. Against the backdrop of categorical approaches to neurodevelopmental disabilities, a discussion of non-categorical dimensional approaches to assess and understand child and family health and well-being is also presented. Then chapters follow that discuss key comorbidities common to all three disorders, such as disturbed sleep, seizures, behavioral disorders, and pain. This is followed by chapters covering the impact of ASD, FAS, and CP on family dynamics, their economic impact, and service delivery to the community. Finally, important resources are provided on harnessing data as well as knowledge translation and dissemination to the community and other stakeholders. Many chapters offer a discussion of controversies and research directions as well as clinical perspectives or vignettes that provide a comprehensive approach to neurodevelopmental disabilities that will be of great interest to trainees, clinicians, and researchers alike. Our target readership are individuals with interests in the developing brain and how perturbations of that development can lead to neurodevelopmental disabilities. The aim of the text is to provide clinical and basic science trainees (residents, clinical fellows, graduate students, postdoctoral fellows) with a strong ground- ing in understanding disorders of the developing brain with a view to these trainees becoming the next generation of child neurologists, developmental pediatricians, and developmental neuroscientists. As co-editors, we are indebted to our contributing authors who have devoted significant time and effort to ensure that this textbook meets the educational and biomedical needs of all v vi Preface stakeholders in the neurodevelopmental community. Finally, we extend our sincere appreciation to our publishers from Springer Nature, especially Pinky Sathishkumar, who ensured that this new textbook became a reality. Parkville, VIC, Australia David D. Eisenstat Vancouver, BC, Canada Dan Goldowitz Vancouver, BC, Canada Tim F. Oberlander Edmonton, AB, Canada Jerome Y. Yager July 13, 2022 Acknowledgment The Editors would like to thank the National Centres of Excellence (Canada) for supporting NeuroDevNet and the Kids Brain Health Network (KBHN). The establishment of these Networks as a foundation for research platforms in neurodevelopmental disorders in children served as the inspiration to establish and pursue publication of this textbook as a global community investigating brain-based disorders common to the growing infant and child. We further wish to acknowledge a host of funding agencies which have supported research specifically related to work done by the Editors inclusive of the Canadian Institutes of Health Research (CIHR), the Canadian Foundation for Innovation, the Heart and Stroke Foundation of Canada, the Natural Sciences and Engineering Council of Canada (NSERC), the Women’s and Children’s Health Research Institute at the University of Alberta (WCHRI), the BC Children’s Hospital Research Institute, the Kids with Cancer Society (Edmonton), and the Government of Canada’s Canada Research Chairs program. The Editors would also like to thank the clinical and research trainees in Pediatrics, Pediatric Neurology, Developmental Pediatrics, Medical Genetics and Developmental Neuroscience at the University of British Columbia and University of Alberta, as well as both NeuroDevNet and the KBHN, for providing the inspiration for the textbook. The Editors wish to express their sincere gratitude and appreciation to all of the chapter authors and co-authors of this textbook. The chapters provide an international perspective on the normal and abnormal developing child’s brain. Moreover, the editors have appreciated the patience of all concerned during this trying time of the COVID-19 pandemic with all of the challenges it has brought. Finally, the Editors are grateful to their families for their generous encouragement and sup- port throughout the journey, from the textbook’s inception to its launch. vii Contents Part I Overview of CNS Development and Disorders 1 Overview of CNS Organization and Development . . . . . . . . . . . . . . . . . . . . . . . . . 3 Richard E. Brown 2 Neural Induction and Regionalization . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 29 Jeffrey T. Wigle and David D. Eisenstat 3 Neural Stem Cells, Differentiation, and Migration . . . . . . . . . . . . . . . . . . . . . . . . . 39 Jessica M. Livingston, Emily A. B. Gilbert, Donna Gao, and Cindi M. Morshead 4 Neurotrophins and Cell Death . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 55 Arman Shekari, Crystal Mahadeo, Nisha Sanwalka, and Margaret Fahnestock 5 Synaptogenesis. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 77 Margaret H. Hastings, James Gilbert, Yuda Huo, and Heng-Ye Man 6 Axonal Guidance . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 93 Mikaela Nevin, Janine Gallego, and David D. Eisenstat 7 Myelination . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .107 Janine Gallego, Mikaela Nevin, and David D. Eisenstat 8 Epigenetics . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .123 Helena Biasibetti-Brendler and Michael Steffen Kobor 9 The Impact of an Adverse Intrauterine Environment on Neurodevelopment . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .147 Sindhu Ramachandra, Michelle Low, Nethra Madurai, Maide Ozen, Yuma Kitase, Shenandoah Robinson, and Lauren L. Jantzie 10 Stress as a Determinant of Neurodevelopmental Outcomes . . . . . . . . . . . . . . . . . .165 Bona Kim and Stephen G. Matthews 11 Sex Differences in Neurodevelopment and Its Disorders . . . . . . . . . . . . . . . . . . . .179 Richard E. Brown Part II A utism Spectrum Disorders 12 The History of Autism Spectrum Disorder . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .215 Alexandra Jackman and Lonnie Zwaigenbaum 13 Epidemiology . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .227 Mayada Elsabbagh ix x Contents 14 An Approach to the Diagnosis of Autism Spectrum . . . . . . . . . . . . . . . . . . . . . . . . .243 Cecilia Lee and Melanie Penner 15 Autism Spectrum Disorder: Cognition . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .253 Elizabeth Kelley and Alison Dodwell 16 The Neuroradiology of Autism: Framing Neuroimaging Investigations of the Autistic Brain Based on the US NIMH Research Domain Criteria . . . . . . .269 Hsiang-Yuan Lin and Meng-Chuan Lai 17 Neuropathology of Autism . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .283 Yarden Kezerle 18 Genetics and Epigenetics of ASD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .293 Bahareh A. Mojarad, Farah Qaiser, and Ryan K. C. Yuen 19 Preclinical Models of Autism Spectrum Disorder . . . . . . . . . . . . . . . . . . . . . . . . . .309 Stephania Assimopoulos, Antoine Beauchamp, and Jason P. Lerch 20 Biomedical Interventions for Autism Spectrum Disorder . . . . . . . . . . . . . . . . . . . .327 Janys Joy Lim and Evdokia Anagnostou 21 Interventions in ASD: Psychosocial Interventions and Supports for ASD . . . . . .337 Jessica A. Brian, Isabel M. Smith, and Katherine Stover Part III Fetal Alcohol Spectrum Disorder 22 Clinical Perspectives on the Diagnostic Assessment of Individuals with FASD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .353 Ana C. Hanlon-Dearman and Sally Longstaffe 23 Epidemiology of Alcohol Consumption among Pregnant and Childbearing Age Women and Fetal Alcohol Spectrum Disorder . . . . . . . . . . . . .371 Svetlana Popova, Jürgen Rehm, and Kevin Shield 24 Fetal Alcohol Spectrum Disorder: Diagnosis . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .379 Jocelynn L. Cook and Courtney R. Green 25 Magnetic Resonance Imaging in Fetal Alcohol Spectrum Disorder (FASD) . . . . .397 Catherine Lebel and Ashley Ware 26 Neuropathological Changes in Humans with History of Prenatal Alcohol Exposure or Diagnosis of Fetal Alcohol Spectrum Disorder . . . . . . . . . .409 Marc R. Del Bigio 27 Genetics and Epigenetics of FASD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .425 Jessica A. Baker, Shuliang Yu, Matthew T. Scott, and Kristin M. Hamre 28 Genetic, Epigenetic, and Environmental Influences on Fetal Alcohol Spectrum Disorder: Implications for Diagnosis, Research and Clinical Practice 441 Alexandre A. Lussier, Berardino Petrelli, Geoffrey G. Hicks, and Joanne Weinberg 29 Fetal Alcohol Spectrum Disorder: Interventions . . . . . . . . . . . . . . . . . . . . . . . . . . .457 Jacqueline Pei, Aamena Kapasi, and Carmen Rasmussen Contents xi Part IV Cerebral Palsy 30 Cerebral Palsy: Clinical Vignettes . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .469 Michael Shevell 31 Cerebral Palsy: Epidemiology . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .479 Shona Goldsmith, Sarah McIntyre, Eve Blair, Hayley Smithers-Sheedy, Nadia Badawi, and Michele Hansen 32 Diagnosis of Cerebral Palsy . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .497 Young-Min Kim and Stephen Ashwal 33 Neuroradiology of Cerebral Palsy . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .515 Fatema Al Amrani, Christine Saint-Martin, and Pia Wintermark 34 Neuropathology of Cerebral Palsy . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .533 Harvey B. Sarnat 35 Genetics and Genomics of Cerebral Palsy . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .547 Jan Friedman and Clara van Karnebeek 36 Pre-Clinical Models of Cerebral Palsy . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .569 Zeenat Ladak and Jerome Y. Yager 37 Therapeutic Approaches for the Treatment of Cerebral Palsy and Developmental Disability . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .579 Michael G. Fehlings, Stephanie R. Beldick, Janette Mailo, Oriana Shaw, Sarah Almas, and Jerome Y. Yager Part V Co-Morbidities in Neurodevelopmental Disorders 38 Sleep Disorders . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .613 Gabrielle Rigney, Pratima Gulati, Penny Corkum, and Shelly K. Weiss 39 Optimizing Therapy of Seizures in Children and Adolescents with Developmental Disabilities . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .631 Anthony Fine, Elaine Wirrell, and Katherine Nickels 40 Behavioral and Mental Health Disorders (Including Attentional Disorders) . . . .655 I. Leslie Rubin, Claire D. Coles, and Jarrett Barnhill 41 Role of Gender and Neurodevelopmental Disabilities . . . . . . . . . . . . . . . . . . . . . . .675 Donald E. Greydanus, Dilip R. Patel, and Joav Merrick 42 A Non-Categorical Approach to Childhood Neurodisability: Concepts, Evidence, and Implications for Clinical Practice, Organization of Services, Teaching, and Research . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .685 Anton R. Miller, Emily Gardiner, and Peter L. Rosenbaum 43 Pain and Symptom Management in Neurodevelopmental Disorders: Sensory and Nociceptive Function/Pain and Symptom Management . . . . . . . . . . . . . . . . . . . . .697 Chantel Burkitt, Lara Genik, Alyssa Merbler, Hal Siden, Tim F. Oberlander, and Frank Symons 44 Pharmacology, Psychopharmacology, and Adverse Drug Reactions . . . . . . . . . . .713 Jarrett Barnhill, Roberto A. Blanco, Kateland Napier, and Takahiro Soda