Genetics of Developmental Disabilities
http://www.100md.com
《新英格兰医药杂志》
The approach to a child with a developmental disability is frequently challenging for professionals and family members alike. Genetics of Developmental Disabilities does much to give the reader the practical information necessary to address this task. The editors have enlisted a strong group of contributors, many of whom have provided seminal work on the subject (Ann C.M. Smith on the Smith–Magenis syndrome, Charles J. Epstein on mouse models of Down's syndrome, John L. Hamerton on sex-chromosome abnormalities, Randi Hagerman on the fragile X syndrome, and Robert J. Shprintzen on the velocardiofacial syndrome, to name only a few).
The 25 chapters in the book are grouped into three sections. The first section consists of reviews of broad topics, including an excellent chapter on the history of mental retardation by Neri and Tiziano. A longer section on specific syndromes characterized by mental retardation follows. The final section takes a broader approach to the epidemiology of developmental disabilities such as attention deficit–hyperactivity disorder and even contains a chapter on alternative therapies.
The editors have targeted a wide audience, including medical geneticists, students, and health care professionals involved in the care of children with developmental disabilities. Overall, the book hits the mark by offering a great deal of information in a relatively short book. The chapter on the history of mental retardation is filled with facts that have gone unnoticed or been forgotten. How many families can boast of a pedigree that has produced both Sir Francis Galton, an early pioneer in the study of human heredity, and Charles Darwin? More pertinent to the subject is that two members of this pedigree had mental retardation, along with a relative with a seizure disorder and another with psychiatric disease. The chapters on specific conditions are generally well done, covering prevalent disorders that are frequent sources of questions from treating therapists.
Microdeletion, or contiguous gene syndromes, are now known to account for many common disorders producing developmental disabilities, and chapters in this book give specific attention to the Prader–Willi syndrome, Angelman's syndrome, the Williams syndrome, and the velocardiofacial syndrome. Each chapter covers the condition comprehensively and gives practical guidance. Yet in some respects, this combination is potentially among both the book's strengths and its weaknesses. The book is not necessarily useful as a quick reference source, given the depth of information presented. At the same time, readers looking for a comprehensive but rather brief chapter on a topic will find their needs met. Illustrations and tables are useful adjuncts to the textual information.
As I read the book, I looked forward with interest to the last section, although I equally enjoyed the first, with its historical focus. The effect of developmental disabilities on society as a whole is relatively profound, given current prevalence figures. The authors of the chapter on epidemiology note that 17 percent of children in the United States have been reported to have a disability, with 2 percent of school-age children having a serious developmental disability. Although one could quote a number of conflicting studies, the lifetime medical and nonmedical costs of this segment of the population, given these percentages, are staggering.
Increasing our understanding of the genetic basis of these developmental disabilities and of the distant potential for effective treatment strategies is likely to have an equally large economic effect. The chapters on attention deficit–hyperactivity disorder and cerebral palsy reflect that we are still at an early point in the identification of genes that produce these conditions. With regard to the nonsyndromic child with an autism-spectrum disorder, learning disability, or mental retardation, we are still left with a small handful of clinical diagnostic tools that may fall short of answering questions such as how the condition occurs and what the risk of recurrence is within a family. This book, however, should provide the information that students, health care providers, and therapists need to address the questions they face on a daily basis.
Kenneth N. Rosenbaum, M.D.
Children's National Medical Center
Washington, DC 20010((Pediatric Habilitation. )
The 25 chapters in the book are grouped into three sections. The first section consists of reviews of broad topics, including an excellent chapter on the history of mental retardation by Neri and Tiziano. A longer section on specific syndromes characterized by mental retardation follows. The final section takes a broader approach to the epidemiology of developmental disabilities such as attention deficit–hyperactivity disorder and even contains a chapter on alternative therapies.
The editors have targeted a wide audience, including medical geneticists, students, and health care professionals involved in the care of children with developmental disabilities. Overall, the book hits the mark by offering a great deal of information in a relatively short book. The chapter on the history of mental retardation is filled with facts that have gone unnoticed or been forgotten. How many families can boast of a pedigree that has produced both Sir Francis Galton, an early pioneer in the study of human heredity, and Charles Darwin? More pertinent to the subject is that two members of this pedigree had mental retardation, along with a relative with a seizure disorder and another with psychiatric disease. The chapters on specific conditions are generally well done, covering prevalent disorders that are frequent sources of questions from treating therapists.
Microdeletion, or contiguous gene syndromes, are now known to account for many common disorders producing developmental disabilities, and chapters in this book give specific attention to the Prader–Willi syndrome, Angelman's syndrome, the Williams syndrome, and the velocardiofacial syndrome. Each chapter covers the condition comprehensively and gives practical guidance. Yet in some respects, this combination is potentially among both the book's strengths and its weaknesses. The book is not necessarily useful as a quick reference source, given the depth of information presented. At the same time, readers looking for a comprehensive but rather brief chapter on a topic will find their needs met. Illustrations and tables are useful adjuncts to the textual information.
As I read the book, I looked forward with interest to the last section, although I equally enjoyed the first, with its historical focus. The effect of developmental disabilities on society as a whole is relatively profound, given current prevalence figures. The authors of the chapter on epidemiology note that 17 percent of children in the United States have been reported to have a disability, with 2 percent of school-age children having a serious developmental disability. Although one could quote a number of conflicting studies, the lifetime medical and nonmedical costs of this segment of the population, given these percentages, are staggering.
Increasing our understanding of the genetic basis of these developmental disabilities and of the distant potential for effective treatment strategies is likely to have an equally large economic effect. The chapters on attention deficit–hyperactivity disorder and cerebral palsy reflect that we are still at an early point in the identification of genes that produce these conditions. With regard to the nonsyndromic child with an autism-spectrum disorder, learning disability, or mental retardation, we are still left with a small handful of clinical diagnostic tools that may fall short of answering questions such as how the condition occurs and what the risk of recurrence is within a family. This book, however, should provide the information that students, health care providers, and therapists need to address the questions they face on a daily basis.
Kenneth N. Rosenbaum, M.D.
Children's National Medical Center
Washington, DC 20010((Pediatric Habilitation. )