Genetics And Mental Retardation Syndromes

Author : Elisabeth M. Dykens
Publisher : Brookes Publishing Company
ISBN 13 :
Total Pages : 348 pages
Book Rating : 4.43/5 ( download)

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Download or read book Genetics and Mental Retardation Syndromes written by Elisabeth M. Dykens and published by Brookes Publishing Company. This book was released on 2000 with total page 348 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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

Author : Samantha J. L. Knight
Publisher : Karger Medical and Scientific Publishers
ISBN 13 : 3805592809
Total Pages : 176 pages
Book Rating : 4.02/5 ( download)

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Download or read book Genetics of Mental Retardation written by Samantha J. L. Knight and published by Karger Medical and Scientific Publishers. This book was released on 2010-01-01 with total page 176 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Author : J. A. Rondal
Publisher :
ISBN 13 :
Total Pages : 228 pages
Book Rating : 4.88/5 ( download)

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Download or read book Intellectual Disabilities written by J. A. Rondal and published by . This book was released on 2004-03-12 with total page 228 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Author : Moyra Smith
Publisher : Oxford University Press
ISBN 13 : 0195174321
Total Pages : 338 pages
Book Rating : 4.28/5 ( download)

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Download or read book Mental Retardation and Developmental Delay written by Moyra Smith and published by Oxford University Press. This book was released on 2006 with total page 338 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Author : Michèle M. M. Mazzocco
Publisher : MIT Press
ISBN 13 : 0262134802
Total Pages : 525 pages
Book Rating : 4.04/5 ( download)

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Download or read book Neurogenetic Developmental Disorders written by Michèle M. M. Mazzocco and published by MIT Press. This book was released on 2007 with total page 525 pages. Available in PDF, EPUB and Kindle. Book excerpt: Table of Contents: 1. Turner syndrome in childhood / Marsha L. Davenport, Stephen R. Hooper and Martha Zeger 2. Klinefelter syndrome / Judith L. Ross, Gerry A. Stefanatos and David Roeltgen 3. Fragile X syndrome : the journey from genes to behavior / Kimberly M. Cornish, Andrew Levitas and Vicki Sudhalter 4. Duchenne muscular dystrophy / Veronica J. Hinton and Edward M. Goldstein 5. Neurofibromatosis / John M. Slopis and Bartlett D. Moore III 6. Cognitive and behavioral characteristics of children with chromosome 22q11.2 deletion syndrome / Tony J. Simon, Merav Burg-Malki and Doron Gothelf 7. Williams Syndrome / Carolyn B. Mervis and Colleen A. Morris 8. Congenital hypothyroidism : genetic and biochemical influences on brain development and neuropsychological functioning / Joanne F. Rovet and Rosalind Brown 9. Inborn errors of metabolism / Kevin M. Antshel and Georgianne Arnold 10. Neurodevelopmental effects of childhood exposure to heavy metals : lessons from pediatric lead poisoning / Theodore I. Lidsky, Agnes T. Heaney, Jay S. Schneider and John F. Rosen 11. Beyond the diagnosis : the process of genetic counseling / Allyn McConkie-Rosell and Julianne O'Daniel 12. From diagnosis to adaptation : optimizing family and child functioning when a genetic diagnosis is associated with mental retardation / Laraine Masters Glidden and Sarah A. Schoolcraft 13. When a genetic disorder is associated with learning disabilities / Michele M. M. Mazzocco 14. Early intervention and early childhood special education for young children with neurogenetic disorders / Deborah D. Hatton 15. The individualized education program : navigating the IEP development process / Vicki Sudhalter.

Author : Suzanne B. Cassidy
Publisher : John Wiley & Sons
ISBN 13 : 1118210670
Total Pages : 1678 pages
Book Rating : 4.73/5 ( download)

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Download or read book Management of Genetic Syndromes written by Suzanne B. Cassidy and published by John Wiley & Sons. This book was released on 2011-09-20 with total page 1678 pages. Available in PDF, EPUB and Kindle. Book excerpt: The bestselling guide to the medical management of common genetic syndromes —now fully revised and expanded A review in the American Journal of Medical Genetics heralded the first edition of Management of Genetic Syndromes as an "unparalleled collection of knowledge." Since publication of the first edition, improvements in the molecular diagnostic testing of genetic conditions have greatly facilitated the identification of affected individuals. This thorough revision of the critically acclaimed bestseller offers original insights into the medical management of sixty common genetic syndromes seen in children and adults, and incorporates new research findings and the latest advances in diagnosis and treatment of these disorders. Expanded to cover five new syndromes, this comprehensive new edition also features updates of chapters from the previous editions. Each chapter is written by an expert with extensive direct professional experience with that disorder and incorporates thoroughly updated material on new genetic findings, consensus diagnostic criteria, and management strategies. Edited by two of the field's most highly esteemed experts, this landmark volume provides: A precise reference of the physical manifestations of common genetic syndromes, clearly written for professionals and families Extensive updates, particularly in sections on diagnostic criteria and diagnostic testing, pathogenesis, and management A tried-and-tested, user-friendly format, with each chapter including information on incidence, etiology and pathogenesis, diagnostic criteria and testing, and differential diagnosis Up-to-date and well-written summaries of the manifestations followed by comprehensive management guidelines, with specific advice on evaluation and treatment for each system affected, including references to original studies and reviews A list of family support organizations and resources for professionals and families Management of Genetic Syndromes, Third Edition is a premier source to guide family physicians, pediatricians, internists, medical geneticists, and genetic counselors in the clinical evaluation and treatment of syndromes. It is also the reference of choice for ancillary health professionals, educators, and families of affected individuals looking to understand appropriate guidelines for the management of these disorders. From a review of the first edition: "An unparalleled collection of knowledge . . . unique, offering a gold mine of information." —American Journal of Medical Genetics

Author : Merlin Butler
Publisher : CRC Press
ISBN 13 : 0429559100
Total Pages : 777 pages
Book Rating : 4.05/5 ( download)

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Download or read book Genetics of Developmental Disabilities written by Merlin Butler and published by CRC Press. This book was released on 2019-06-13 with total page 777 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Author : Louis Rowitz
Publisher : Springer
ISBN 13 : 9781461391173
Total Pages : 0 pages
Book Rating : 4.72/5 ( download)

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Download or read book Mental Retardation in the Year 2000 written by Louis Rowitz and published by Springer. This book was released on 2011-11-08 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: When you look at the advances in the field of mental retardation over the past 30 years, it is hard to imagine that more change is inevitable. Yet, I think back to the time when, early in his presidency, President Kennedy called together the brightest scientists, researchers, doctors, and educators to develop a comprehensive plan for the nation to effectively care for, treat, educate, and house persons with mental retardation. In the early 1960s the call for new research into the causes and the amelioration of mental retardation, the development of community-based programs, and the development of family care for appropriate education, vocational training, and jobs were seen as revolutionary. But, in the 30 years since then, we have seen time and time again that it is persons with mental retardation themselves who have led the way. When the schools were opened to them, they learned more than any one ever thought possible; when vocational training was provided, they learned skills that led to jobs; when employment became available, they proved to be good steady workers who earned money and paid taxes. When the playing fields were made available to them through programs such as Special Olympics, they showed the world they could train and compete and WIN in the sports of the Olympics. When communities welcomed them, they became our neighbors. They have earned the right to play on any field, to study in any school, to hold a paying job, and to be anyone's neighbor.

Author : John C. Carey
Publisher : John Wiley & Sons
ISBN 13 : 1119432677
Total Pages : 1104 pages
Book Rating : 4.78/5 ( download)

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Download or read book Cassidy and Allanson's Management of Genetic Syndromes written by John C. Carey and published by John Wiley & Sons. This book was released on 2021-01-27 with total page 1104 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Author : Eliot Slater
Publisher : Oxford University Press, USA
ISBN 13 :
Total Pages : 430 pages
Book Rating : 4.60/5 ( download)

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Download or read book The Genetics of Mental Disorders written by Eliot Slater and published by Oxford University Press, USA. This book was released on 1971 with total page 430 pages. Available in PDF, EPUB and Kindle. Book excerpt: