Genetics Of Mental Retardation

This book discusses in detail the genetic causes and implications, prevalence, physical characteristics, cognitive profiles, speech and language, medical complications, and behaviors of four major syndromes (Down, Williams, fragile X, and Prader-Willi) an

This remarkable publication focuses on the importance of genetics in mental retardation, investigating the extent to which molecular diagnostic capability and the understanding of genetic causes have improved over recent years. As a result, clinical evaluation and diagnostic laboratory practice are now undergoing an unprecedented period of change. In a single volume, a unique combination of key individuals and world-class clinical, diagnostic and research-based experts share specialized, state-of the-art knowledge in this field. The parents' perspective lies behind chapters dealing with issues such as: - Classification nomenclature - Well-known syndromes - How modern technologies have resulted in newly identified syndromes - How genome architecture can influence disease - Guidelines for clinical evaluation - Valuable database resources for clinical, diagnostic and research departments - Challenges involved in data interpretation and determining clinical relevance - Genetic overlaps with autism and schizophrenia - Processes of health service implementation Genetics of Mental Retardation is an invaluable resource for researchers and students with an active interest in the field. Furthermore, consultants and trainees in clinical genetics and pediatrics, and researchers working in clinical genetics laboratories will benefit from these reviews.

CONSUMER HEALTH . What measures can parents and advocates take to insure that people who have mental retardation live full, rewarding lives from infancy to old age?. Understanding Mental Retardation explores a diverse group of disorders from their biological roots to the everyday challenges faced by this special population and their families. With parents and those who care for people who have mental retardation in mind, Patricia Ainsworth and Pamela C. Baker write in a style that is at once accessible, informative, and sympathetic to the concerns of those affected. The authors provide practical information that will assist families and other advocates in obtaining needed services. They discuss assessment and treatment, education and employment, social and sexual adjustment, as well as regulatory and legal issues. This book covers the causes of mental retardation, the signs and symptoms of the most common forms of these disorders, and issues of prevention. For the sake of comparison, the book describes basic concepts of normal human development and references the history of Western civilization's responses to those with mental retardation. Understanding Mental Retardation sheds new light on mental illnesses that can complicate the lives of those with mental retardation, and the way symptoms of mental illness may appear confused or masked in a patient with mental retardation. Along with information on treatments and diagnoses, the book offers contact information for governmental resources, as well as a brief summary of the legal issues pertaining to mental retardation in America. Patricia Ainsworth is an assistant professor of psychiatry and human behavior at the University of Mississippi Medical Center, and has a private practice in Ridgeland, Mississippi. She is the author of Understanding Depression (University Press of Mississippi). Pamela C. Baker is director of the South Mississippi Regional Center in Long Beach, Mississippi. She is also an independent consultant in management and disabilities administration and co-editor of Embarking on a New Century: Mental Retardation at the End of the 20th Century .

Recent advances in neuroscience and genetics have greatly expanded our understanding of the brain and of the etiological factors involved in developmental delay and mental retardation. At the same time, the human genome project has yielded a wealth of information on DNA sequencing, regulation of gene expression, epigenetics, and functional aspects of the genome, which newly propels investigation into the pathogenesis of mental retardation. This book makes readily available current knowledge on the subject and applies it to clinical medicine, providing information essential to neurologists, geneticists, physicians and pediatricians as they search for the causes of mental handicap in their patients. Introductory chapters cover normal and abnormal brain structure, neurogenesis, neuronal proliferation, and signal transduction. Latter chapters delve into discussions of both the environmental factors that may lead to neurocognitive deficits and the cytogenetic, biochemical and molecular defects specifically associated with mental retardation. One chapter reviews gene involvement in non-syndromic mental retardation, autism, and language deficits, as well as multifactorial and genetically complex inheritance. The text concludes with a clinically practical discussion of carrier detection, presymptomatic diagnosis, and treatment of various genetic diseases through enzyme therapy, substrate deprivation, and the use of hemapoietic stem cells.

MANAGEMENT OF GENETIC SYNDROMES THE MOST RECENT UPDATE TO ONE OF THE MOST ESSENTIAL REFERENCES ON MEDICAL GENETICS Cassidy and Allanson’s Management of Genetic Syndromes, Fourth Edition is the latest version of a classic text in medical genetics. With newly covered disorders and cutting-edge, up-to-date information, this resource remains the most crucial reference on the management of genetic syndromes in the field of medical genetics for students, clinicians, caregivers, and researchers. The fourth edition includes current information on the identification of genetic syndromes (including newly developed diagnostic criteria), the genetic basis (including diagnostic testing), and the routine care and management for more than 60 genetic disorders. Written by experts, each chapter includes sections on: Incidence Diagnostic criteria Etiology, pathogenesis and genetics Diagnostic testing Differential diagnosis Manifestations and Management (by system) The book focuses on genetic syndromes, primarily those involving developmental disabilities and congenital defects. The chapter sections dealing with Manifestations and Management represents the centerpiece of each entry and is unmatched by other genetic syndrome references. Management of Genetic Syndromes is perfect for medical geneticists, genetic counselors, primary care physicians and all healthcare professionals seeking to stay current on the routine care and management of individuals with genetic disorders.

Advances in biobehavioural sciences are bringing important changes in the field of intellectual disabilities. Of particular interest is the description of particular behavioural phenotypes related to but distinct from genotypes, and the extent to which they are specific. In this text, more than 20 particular genetic syndromes with marked levels of intellectual disability are identified and described from a variety of points of view, including cognitive, language, behavioural, adaptive and social and community inclusion aspects. Readers should better understand genetic intellectual disabilities and how they affect individual behaviours. Researchers and practitioners, including mental health professionals, speech-language therapists, special educators and social workers, should learn considerably more about actively researched syndromes such as Down, Williams, Fragile-X, Prader-Willi, Angelman, Rett, 5-p (Cri-du-chat), Noonan and several others, and obtain the evidence-based information they need to improve developmental, educational, occupational and residential situations, favouring inclusion for the people with intellectual disability syndromes.

Published in 2005: Genetics of Developmental Disabilities is written as a textbook and resource for physicians, basic and clinical researchers, and other professionals, students, and health care providers. Those interested in the causes and scientific understanding of developmental disabilities.