Genetics And Mental Retardation Syndromes: A New look at Behavior and Interventions / Edition 1

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Overview

New genetic causes of mental retardation are being discovered at rapid rates - every day more people are diagnosed with specific syndromes. This comprehensive and timely guide identifies characteristics of people who have these syndromes to help you understand their behaviors and their needs, so you'll be able to provide better interventions and create wider community inclusion. You'll get easy-to-read, detailed discussions of four major syndromes - Down, Williams, fragile X, and Prader-Willi - on genetic causes and implications, prevalence, basic physical characteristics, cognitive profiles, speech and language, medical complications, and behaviors. Research-based intervention strategies are explained to help you with education, personal relationships, employment, and residential issues. Five other, less researched syndromes - velocardiofacial, Rubinstein-Taybi, Angelman, Smith-Magenis, and 5p- (cri du chat) - are also featured, giving you in-depth information you won't find elsewhere.

The book contains black-and-white illustrations.

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Editorial Reviews

Journal of Genetic Counseling
"The book is well organized and well written. . . . The intended audience of this work, as stated by the authors, are ';non-genetically trained workers: those behavioral scientists, practitioners and family members who desire to learn more about etiology-based behavioral findings and issues,' however, as a genetic counselor I found it thoroughly engrossing and would recommend it to anyone who has an interest in any of the syndromes showcased."
Doody's Review Service
Reviewer: Ozlem Dubauskas, MD (Rush University Medical Center)
Description: This is a comprehensive review of genetic mental retardation syndromes.
Purpose: The purpose is to enlighten the audience about mental retardation syndromes and remind them about the necessity of genetic research in this area.
Audience: Audiences include a broad range of professionals. Clinicians who follow patients with mental retardation will enjoy this book. Anybody who deals with retarded children, including special education teachers, speech pathologists, and occupational therapists, will find this information will help them understand their clients.
Features: The first chapter of the book is dedicated to the necessity of studying the etiology of mental retardation. The author approaches this subject from a broad point of view. The rest of the book is a comprehensive review of four major mental retardation syndromes: Down, Williams, Fragile-X, and Prader-Willi. One chapter describes five other genetic syndromes which are less frequently diagnosed. The information includes genetic studies, prevalence, clinical features, and various issues including maladaptive behavior, prognosis, and treatment methods. The authors spend a great deal of time on treatment recommendations, although medication management is not covered. All chapters include pictures and graphics to enhance the understanding of the material. References are up-to-date and there is a helpful index at the end of the book.
Assessment: Written by genetic researchers who are credible authorities, this comprehensive review of genetic disorders with mental retardation is helpful and informative.
From the Publisher

"The book is well organized and well written. . . . The intended audience of this work, as stated by the authors, are ';non-genetically trained workers: those behavioral scientists, practitioners and family members who desire to learn more about etiology-based behavioral findings and issues,' however, as a genetic counselor I found it thoroughly engrossing and would recommend it to anyone who has an interest in any of the syndromes showcased."
Booknews
Identifies the genetic and behavioral characteristics of nine mental retardation syndromes. Gives in-depth information on genetic causes, prevalence, and physical and medical features of Down, Williams, fragile X, and Prader-Willi syndromes, and describes their cognitive profiles, speech and language issues, and adaptive and maladaptive behaviors. Also looks at five lesser-known disorders: velocardiofacial syndrome, Rubenstein-Taybi syndrome, Smith-Magenis syndrome, Angelman syndrome, and 5p (cri du chat) syndrome. Includes b&w photos of facial features characteristic of different syndromes. Dykens teaches child and adolescent psychiatry at the University of California-Los Angeles. Annotation c. Book News, Inc., Portland, OR (booknews.com)

3 Stars from Doody
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Product Details

  • ISBN-13: 9781557664716
  • Publisher: Brookes, Paul H. Publishing Company
  • Publication date: 1/1/2000
  • Edition description: New Edition
  • Edition number: 1
  • Pages: 323
  • Product dimensions: 6.00 (w) x 9.00 (h) x 0.70 (d)

Meet the Author

Elisabeth M. Dykens, Ph.D., is a child clinical psychologist who has worked with individuals with many different disorders, both clinically and in research. She is particularly interested in the interconnections among genes, brain, and behavior –more specifically, in maladaptive behavior-psychopathology in individuals who have Prader-Willi syndrome, Williams syndrome, or other disorders. Co-author of Behavior and Development in Fragile X Syndrome (Sage Publications, 1994), Dr. Dykens has also published numerous studies on the behavior of people with mental retardation. She is a member of the scientific advisory boards of several national syndrome organizations, the steering committee of the National Institute of Child Health and Human Development, the Gatlinburg Society for Research and Theory in Mental Retardation, and the research and evaluation committee for Special Olympics International.

Brenda M. Finucane, M.S., is a genetics counselor who serves as Director of Genetic Services at Elwyn Training and Research Institute, one of the United States' oldest multiservice agencies for people with mental retardation. She is the recipient of the 1994 Jane Engelberg Memorial Fellowship from the National Society of Genetics Counselors for her work with women with mental retardation; this work also resulted in her book, Working with Women with Mental Retardation (Elwyn Training and Research Institute, 1998). Ms. Finucane is also the author of What's So Special about Genetics? A Guide for Special Educators (Elwyn Training and Research Institute, 1996), and Fragile X Syndrome: A Handbook for Families and Professionals (National Fragile X Foundation, 1993) and the editor of several parent support group newsletters. She has thus led the way in promulgating etiology-based interventions to parents and educators.

Robert M. Hodapp, Ph.D., is a developmental psychologist who has examined how children with different mental retardation syndromes develop and interact with their families. A leading proponent of developmental approaches to children with disabilities, Dr. Hodapp's interests relate to the so-called indirect effects of genetic mental retardation disorders on others, intellectual strengths and weaknesses in Down syndrome, and the possibilities of etiology-based educational interventions. He is the author of Development and Disabilities: Intellectual, Sensory, and Motor Impairments (Cambridge University Press, 1998), and co-editor of the Handbook of Mental Retardation and Development (Cambridge University Press, 1998). Dr. Hodapp is also a member of the editorial boards of the American Journal on Mental Retardation and Mental Retardation.

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Read an Excerpt

Excerpted from chapter 1 of Genetics and Mental Retardation Syndromes: A New Look at Behavior and Interventions, by Elisabeth M. Dykens, Ph.D., Robert M. Hodapp, Ph.D., & Brenda M. Finucane, M.S.

Copyright © 2000 by Paul H. Brookes Publishing Co. All rights reserved.

Toward Etiology-Based Work

Over the past few decades, advances in human genetics have brought revolutionary changes to the mental retardation field. With new genetic causes of mental retardation discovered each year, more than 750 genetic mental retardation etiologies have now been identified (Opitz, 1996). And, given the success of the Human Genome Project, these rapid advances show no signs of slowing. Indeed, in the late 1990s geneticists estimated that the chemical structure of each of the 100,000 human genes would be known by the year 2003 (Goodman, 1998), leading to a better understanding of the connections between particular genes and specific human behaviors (i.e., "gene–behavior correlations"). These advances mark a new era in our understanding of and interventions for people who have mental retardation.

Looking back, it is startling to see how far we have come in so short a time. Until Watson and Crick's discoveries were reported in 1953, the world did not even know the basic structure of the human chromosome, how many chromosomes human beings possessed, or how genes operated. In 1959, Lejeune, Gautier, and Turpin discovered that most cases of Down syndrome are caused by an extra — or third — chromosome 21 (i.e., trisomy 21). A decade later Lubs (1969) first observed the pinched, "fragile" site of fragile X syndrome, and, over the past two decades, discoveries in fragile X syndrome, as well as in Prader-Willi syndrome and Angelman syndrome, led to new models of human disease. In short, these advances are promoting a new way of looking at a variety of human disorders and permanently changing the disability field as a result.

This book describes these remarkable genetic advances as they apply to behavioral issues within specific mental retardation syndromes. To promote understanding of the behavioral characteristics of several genetic mental retardation disorders, we provide in each chapter descriptions of causes, prevalence, and basic physical characteristics for each syndrome, along with more in-depth understandings of many different behavioral characteristics.

GENETICS AND BEHAVIOR: A CRITICAL LINK

This book goes beyond mere description to advance a larger argument. Simply put, we argue that genetic disorders affect various aspects of behavior, from cognition and language to adaptive and maladaptive behaviors. More indirectly, the behaviors often exhibited by people with a particular genetic disorder also influence how others react. In the first few decades of the new millennium genetic disorders will also increasingly influence the choice of which specific psychological, educational, or other therapies are most effective for individuals with a given syndrome. To us, then, genetic disorders matter in understanding the behaviors of people with mental retardation.

The assertion that "genetic disorders matter" is obvious to some researchers, anathema to others. Indeed, to professionals in many disciplines, our argument will seem so obvious that it is hardly worth stating. To these people, the importance of genetic etiology shows itself every day. In other disciplines, however, workers cringe at the idea of etiology-based research or intervention. To these individuals, our arguments concerning the importance of genetic etiology on behavior seem obviously wrong, at odds with major philosophies in the field, and heretical to good science or practice. How, then, can we best reconcile such diametrically opposed views on the same topic? We first offer answers to several common criticisms of etiology-based approaches

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Table of Contents


I. Introduction to Behavioral and Genetic Issues
  1. Toward Etiology-Based Work
  2. Applying the New Genetics
II. Genetic Disorders
  1. Down Syndrome
  2. Williams Syndrome
  3. Fragile X Syndrome
  4. Prader-Willi Syndrome
  5. Five Other Intriguing Syndromes
III. New Directions
  1. Next Steps for Research

References
Resources
Index

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