EBOOKS Autism Spectrum Disorder E CK HUMAN DISEASES AND FOR THE D He Prefers to Play Alone AHL CONDITIONS COLLECTION HEALTH Todd T. Eckdahl LIBRARY A. Malcolm Campbell, Collection Editor This book is an overview of autism spectrum disorder (ASD), an Create your own early childhood condition that affects 1 in 68 children in the Customized Content United States, and an estimated 1 to 2 percent of children world- Bundle — the more wide. ASD causes impaired social skills, communication problems, books you buy, and repetitive behaviors. The severity of ASD symptoms varies the higher your widely, ranging from mild effects with minimal impacts on func- tionality to severe effects that interfere with functionality and can discount! prevent independent living. Autism ASD is a complex trait disease caused by mutation of multiple THE CONTENT ASD susceptibility genes, but it also occurs as part of m onogenic • Nutrition and genetic syndromes. Genetic testing for ASD is described in the Dietetics Practice book, and examples of ASD susceptibility genes. No treatments Spectrum • Psychology are available for the core symptoms of ASD, but the book • Health, Wellness, describes therapies and drug treatments that can modulate them A and Exercise and address some of the health complications of ASD. The book U T IS Disorder Science presents new ASD biomarkers that can be used for better diag- M S • Health Education nosis and explores the hopeful prospect of personalized medicine P E C for ASD. T R U M THE TERMS Dr. Todd T. Eckdahl earned a BS in chemistry from the University D He Prefers to Play • Perpetual access for of Minnesota, Duluth, and a PhD in molecular genetics from ISO R a one time fee Purdue University. He is a professor of biology at Missouri Western DE Alone R • No subscriptions or State University, where he teaches genetics and conducts research access fees with undergraduate students. Dr. Eckdahl has published over • Unlimited 40 articles on molecular genetics, synthetic biology, and undergrad- concurrent usage uate science education. He is a member of the Missouri Academy • Downloadable PDFs of Science, the Genome Consortium for Active Teaching, and the • Free MARC records Genomics Education Partnership. Dr. Eckdahl has been recog- nized for his teaching and research with the Missouri Governor’s Award for Excellence in Teaching, the Missouri Western Board For further information, of Governors Distinguished Professor Award, the James V. Mehl a free trial, or to order, Outstanding Faculty Scholarship Award, the Missouri Western contact: Alumni Association Distinguished Faculty Award, and the Jesse [email protected] Lee Meyers Excellence in Teaching Award. Todd T. Eckdahl Autism Spectrum Disorder Autism Spectrum Disorder He Prefers to Play Alone Todd T. Eckdahl Autism Spectrum Disorder: He Prefers to Play Alone Copyright © Momentum Press®, LLC, 2018. All rights reserved. No part of this publication may be reproduced, stored in a retrieval system, or transmitted in any form or by any means— electronic, mechanical, photocopy, recording, or any other except for brief quotations, not to exceed 250 words, without the prior permission of the publisher. First published in 2018 by Momentum Press®, LLC 222 East 46th Street, New York, NY 10017 www.momentumpress.net ISBN-13: 978-1-94474-959-0 (paperback) ISBN-13: 978-1-94474-960-6 (e-book) Momentum Press Human Diseases and Conditions Collection Cover and interior design by S4Carlisle Publishing Services Private Ltd., Chennai, India First edition: 2018 10 9 8 7 6 5 4 3 2 1 Printed in the United States of America Abstract This book is an overview of autism spectrum disorder (ASD), an early childhood condition that affects 1 in 68 children in the United States, and an estimated 1 to 2 percent of children worldwide. ASD is c haracterized by impaired social skills, communication problems, and repetitive behaviors. The reader will learn about the early signs of ASD, and that the severity of ASD symptoms varies widely, ranging from mild effects with minimal impacts on functionality to severe effects that p revent independent living. The book explains that ASD is usually a complex trait disease caused by mutation of multiple ASD susceptibility genes, but that in rare cases it occurs as part of a monogenic genetic syndrome. The book describes g enetic testing for ASD, and presents examples of ASD susceptibility genes that influence the development and function of the brain and the central nervous system. No treatments are available for the core symptoms of ASD, but the book describes therapies and drug treatments that can m odulate them and address some of the health complications of ASD. The book presents new ASD biomarkers that can be used for better diagnosis, and explores the hopeful prospect of personalized medicine for ASD. Keywords Asperger’s syndrome, autism, autism spectrum, autism spectrum d isorder, complex trait disease, genetic disease, neurodevelopmental disorder, pervasive developmental disorder not otherwise specified Contents List of Figures .......................................................................................ix List of Tables .........................................................................................xi Acknowledgments ................................................................................xiii Introduction .........................................................................................1 Chapter 1 Symptoms and Diagnosis .................................................5 Chapter 2 Causes and Contributing Factors ...................................23 Chapter 3 Treatment and Therapy ..................................................47 Chapter 4 Future Prospects .............................................................53 Conclusion ..........................................................................................57 Glossary ..............................................................................................59 Bibliography ........................................................................................67 About the Author .................................................................................71 Index ..................................................................................................73 List of Figures Figure 2.1 Structure and expression of NLGN3, an ASD susceptibility gene ..........................................................29 Figure 2.2 Structure of a typical synapse between neurons ..............30 Figure 2.3 ASD CNV risk loci with number of genes included and positions indicated by arrows on a karyotype ...........35 Figure 2.4 Autosomal recessive inheritance illustrated with a Punnett square showing offspring genotypes and phenotypes from a carrier father and a carrier mother ....38 Figure 2.5 Autosomal dominant inheritance illustrated with a Punnett square showing offspring genotypes and phenotypes from a heterozygous affected father and an unaffected mother .....................................................39 Figure 2.6 X-linked dominant inheritance illustrated with a Punnett square showing offspring genotypes and phenotypes from an affected father and an unaffected mother ...........................................................................42 Figure 2.7 X-linked dominant inheritance illustrated with a Punnett square showing offspring genotypes and phenotypes from an unaffected father and an affected mother ...........................................................................43
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