Down Syndrome: From Understanding the Neurobiology to Therapy

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Author :
Publisher : Elsevier
ISBN 13 : 0444543007
Total Pages : 273 pages
Book Rating : 4.4/5 (445 download)

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Book Synopsis Down Syndrome: From Understanding the Neurobiology to Therapy by :

Download or read book Down Syndrome: From Understanding the Neurobiology to Therapy written by and published by Elsevier. This book was released on 2012-10-16 with total page 273 pages. Available in PDF, EPUB and Kindle. Book excerpt: Down syndrome (DS) is the most common example of neurogenetic aneuploid disorder leading to mental retardation. In most cases, DS results from an extra copy of chromosome 21 (HSA21) producing deregulated gene expression in brain that gives raise to subnormal intellectual functioning. The topic of this volume is of broad interest for the neuroscience community, because it tackles the concept of neurogenomics, that is, how the genome as a whole contributes to a neurodevelopmental cognitive disorders, such as DS, and thus to the development, structure and function of the nervous system. This volume of Progress in Brain Research discusses comparative genomics, gene expression atlases of the brain, network genetics, engineered mouse models and applications to human and mouse behavioral and cognitive phenotypes. It brings together scientists of diverse backgrounds, by facilitating the integration of research directed at different levels of biological organization, and by highlighting translational research and the application of the existing scientific knowledge to develop improved DS treatments and cures. Leading authors review the state-of-the-art in their field of investigation and provide their views and perspectives for future research Chapters are extensively referenced to provide readers with a comprehensive list of resources on the topics covered All chapters include comprehensive background information and are written in a clear form that is also accessible to the non-specialist

Genetics and Neurobiology of Down Syndrome

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Author :
Publisher : Academic Press
ISBN 13 : 0323904572
Total Pages : 500 pages
Book Rating : 4.3/5 (239 download)

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Book Synopsis Genetics and Neurobiology of Down Syndrome by : Bani Bandana Ganguly

Download or read book Genetics and Neurobiology of Down Syndrome written by Bani Bandana Ganguly and published by Academic Press. This book was released on 2022-08-21 with total page 500 pages. Available in PDF, EPUB and Kindle. Book excerpt: Genetics and Neurobiology of Down Syndrome provides a thorough review of the genetic etiology and mechanisms of trisomy 21. The author discusses the history of the syndrome, along with the clinical features and health consequences, including physical features, cognitive, and neurologic symptoms. Genetic counseling on pros and cons of prenatal screening and testing and associated ethical issues are explored. This unique book also covers the societal and demographic aspects as well as the future direction of therapeutic development. Reviews genetic etiology and mechanisms of trisomy 21 Discusses prenatal screening and genetic counseling, including ethical aspects Explores link between Down Syndrome and susceptibility to Alzheimer’s and early brain aging Covers cognitive and neurological symptoms and other health consequences Identifies future therapeutic developments

Down Syndrome: From Understanding the Neurobiology to Therapy

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Author :
Publisher : Elsevier
ISBN 13 : 044454299X
Total Pages : 273 pages
Book Rating : 4.4/5 (445 download)

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Book Synopsis Down Syndrome: From Understanding the Neurobiology to Therapy by : Mara Dierssen

Download or read book Down Syndrome: From Understanding the Neurobiology to Therapy written by Mara Dierssen and published by Elsevier. This book was released on 2012-06-19 with total page 273 pages. Available in PDF, EPUB and Kindle. Book excerpt: Down syndrome (DS) is the most common example of neurogenetic aneuploid disorder leading to mental retardation. In most cases, DS results from an extra copy of chromosome 21 (HSA21) producing deregulated gene expression in brain that gives raise to subnormal intellectual functioning. The topic of this volume is of broad interest for the neuroscience community, because it tackles the concept of neurogenomics, that is, how the genome as a whole contributes to a neurodevelopmental cognitive disorders, such as DS, and thus to the development, structure and function of the nervous system. This volume of Progress in Brain Research discusses comparative genomics, gene expression atlases of the brain, network genetics, engineered mouse models and applications to human and mouse behavioral and cognitive phenotypes. It brings together scientists of diverse backgrounds, by facilitating the integration of research directed at different levels of biological organization, and by highlighting translational research and the application of the existing scientific knowledge to develop improved DS treatments and cures. Leading authors review the state-of-the-art in their field of investigation and provide their views and perspectives for future research Chapters are extensively referenced to provide readers with a comprehensive list of resources on the topics covered All chapters include comprehensive background information and are written in a clear form that is also accessible to the non-specialist

Preclinical Research in Down Syndrome: Insights for Pathophysiology and Treatments

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Author :
Publisher : Academic Press
ISBN 13 : 0444642579
Total Pages : 320 pages
Book Rating : 4.4/5 (446 download)

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Book Synopsis Preclinical Research in Down Syndrome: Insights for Pathophysiology and Treatments by :

Download or read book Preclinical Research in Down Syndrome: Insights for Pathophysiology and Treatments written by and published by Academic Press. This book was released on 2020-02-10 with total page 320 pages. Available in PDF, EPUB and Kindle. Book excerpt: Preclinical Research in Down Syndrome: From Bench to Bedside, Volume 251, the latest release in the Progress in Brain Research series, highlights new advances in the field. Chapters in this updated release include Exploring genetic and epigenetic mechanisms underlying cognitive deficits in Dow syndrome, The trisomy paradox: gene expression dysregulation domains, the Influence of allelic differences in mouse models of Down syndrome, Modelling Down syndrome in cells: From stem cells to organoids, Modelling Down syndrome in animals from the early stage to the new generation of models, Mapping behavioral landscapes in Down syndrome animal models, and more. Presents content by renowned authors who review the state-of-the-art in preclinical research and provide their views and perspectives for the future of the field Provides extensively referenced chapters, thus giving readers a comprehensive list of resources on topics covered Includes comprehensive and in-depth background information written in a clear form that is accessible to both specialists and non-specialists

The Neurobiology of Down Syndrome

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Author :
Publisher :
ISBN 13 : 9780608005799
Total Pages : 272 pages
Book Rating : 4.0/5 (57 download)

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Book Synopsis The Neurobiology of Down Syndrome by : Charles J. Epstein

Download or read book The Neurobiology of Down Syndrome written by Charles J. Epstein and published by . This book was released on 1986 with total page 272 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Comprehensive Developmental Neuroscience: Neural Circuit Development and Function in the Heathy and Diseased Brain

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Author :
Publisher : Elsevier Inc. Chapters
ISBN 13 : 0128063394
Total Pages : 69 pages
Book Rating : 4.1/5 (28 download)

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Book Synopsis Comprehensive Developmental Neuroscience: Neural Circuit Development and Function in the Heathy and Diseased Brain by : A.B. Bowman

Download or read book Comprehensive Developmental Neuroscience: Neural Circuit Development and Function in the Heathy and Diseased Brain written by A.B. Bowman and published by Elsevier Inc. Chapters. This book was released on 2013-05-06 with total page 69 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Intellectual Disabilities in Down Syndrome from Birth and throughout Life: Assessment and Treatment

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Author :
Publisher : Frontiers Media SA
ISBN 13 : 2889450457
Total Pages : 183 pages
Book Rating : 4.8/5 (894 download)

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Book Synopsis Intellectual Disabilities in Down Syndrome from Birth and throughout Life: Assessment and Treatment by : Marie-Claude Potier

Download or read book Intellectual Disabilities in Down Syndrome from Birth and throughout Life: Assessment and Treatment written by Marie-Claude Potier and published by Frontiers Media SA. This book was released on 2017-02-24 with total page 183 pages. Available in PDF, EPUB and Kindle. Book excerpt: Research on the multiple aspects of cognitive impairment in Down syndrome (DS), from genes to behavior to treatment, has made tremendous progress in the last decade. The study of congenital intellectual disabilities such as DS is challenging since they originate from the earliest stages of development and both the acquisition of cognitive skills and neurodegenerative pathologies are cumulative. Comorbidities such as cardiac malformations, sleep apnea, diabetes and dementia are frequent in the DS population, as well, and their increased risk provides a means of assessing early stages of these pathologies that is relevant to the general population. Notably, persons with DS will develop the histopathology of Alzheimer’s disease (formation of neuritic plaques and tangles) and are at high risk for dementia, something that cannot be predicted in the population at large. Identification of the gene encoding the amyloid precursor protein, its localization to chromosome 21 in the 90’s and realization that all persons with DS develop pathology identified this as an important piece of the amyloid cascade hypothesis in Alzheimer’s disease. Awareness of the potential role of people with DS in understanding progression and treatment as well as identification of genetic risk factors and also protective factors for AD is reawakening. For the first time since DS was recognized, major pharmaceutical companies have entered the search for ameliorative treatments, and phase II clinical trials to improve learning and memory are in progress. Enriched environment, brain stimulation and alternative therapies are being tested while clinical assessment is improving, thus increasing the chances of success for therapeutic interventions. Researchers and clinicians are actively pursuing the possibility of prenatal treatments for many conditions, an area with a huge potential impact for developmental disorders such as DS. Our goal here is to present an overview of recent advances with an emphasis on behavioral and cognitive deficits and how these issues change through life in DS. The relevance of comorbidities to the end phenotypes described and relevance of pharmacological targets and possible treatments will be considerations throughout.

Advances in Down Syndrome Research

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Author :
Publisher : Springer Science & Business Media
ISBN 13 : 3709167213
Total Pages : 241 pages
Book Rating : 4.7/5 (91 download)

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Book Synopsis Advances in Down Syndrome Research by : Gert Lubec

Download or read book Advances in Down Syndrome Research written by Gert Lubec and published by Springer Science & Business Media. This book was released on 2013-03-13 with total page 241 pages. Available in PDF, EPUB and Kindle. Book excerpt: "Advances in Down Syndrome Research” represents updated research in several areas of Down Syndrome (DS). A new promising animal model of DS is reported and this opens new opportunities to study pathomechanisms and pharmacological approaches as it is more than difficult to carry out studies in humans and the clinical features are highly variable. In terms of biology, cell cycle and stem cell studies and in terms of biochemistry, relevance of studies on a specific protein kinase, channels, transporters, superoxide dismutase, antioxidant system, chromosome assembly factor and other important biological structures are provided. And again, the gene dosage hypothesis is addressed and although the vast majority of chromosome 21 gene products is unchanged in fetal DS brain, a few specific chromosome 21 encoded structures including transcription factors are indeed overexpressed although findings in fetal DS are different from those in adult DS brain when Alzheimer-like neuropathology supervenes.

The Molecular Biology of Down Syndrome

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Author :
Publisher : Springer Science & Business Media
ISBN 13 : 3709163803
Total Pages : 362 pages
Book Rating : 4.7/5 (91 download)

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Book Synopsis The Molecular Biology of Down Syndrome by : G. Lubec

Download or read book The Molecular Biology of Down Syndrome written by G. Lubec and published by Springer Science & Business Media. This book was released on 2013-12-01 with total page 362 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book contains updated reviews and original research work on Down Syndrome focussing on brandnew results in neurobiology, in particular results on gene hunting (subtractive hybridization, differential display) and neurochemistry. The book provides new data such as a subtractive library of Down Syndrome brain showing cDNAs that are overexpressed or downregulated and can be regarded as a source for further research on the preliminary transcriptional data given. A 2D-electrophoretic map of human brain proteins including Down Syndrome brain protein expression established by in-gel-digestion of spots with subsequent MALDI-identification provides the scientific basis for protein work to the neuroscientist. Altogether, the book provides a series of new candidate genes possibly involved in Down Syndrome neurobiology, tools for neuroscience studies on Down Syndrome brain thus serving as a manual and updated views and aspects on Down Syndrome pathobiology.

Therapies and Rehabilitation in Down Syndrome

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Author :
Publisher : John Wiley & Sons
ISBN 13 : 9780470319970
Total Pages : 228 pages
Book Rating : 4.3/5 (199 download)

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Book Synopsis Therapies and Rehabilitation in Down Syndrome by : Jean-Adolphe Rondal, PhD

Download or read book Therapies and Rehabilitation in Down Syndrome written by Jean-Adolphe Rondal, PhD and published by John Wiley & Sons. This book was released on 2007-04-04 with total page 228 pages. Available in PDF, EPUB and Kindle. Book excerpt: Therapies and Rehabilitation in Down Syndrome covers the entire lifespan of a DS patient, from infancy to 60 years and beyond, focusing not simply on identifying problems, but providing a detailed look at major therapeutic approaches. Discussion includes future genetic therapy, questions of quality of life, hormone and other therapies for medical problems, prevention and treatment of normal and pathological aging, as well as psychomotoric rehabilitation. This is an important book not only for scientists concerned with various facets of DS, but practitioners looking for guidelines for therapies and clinical application of research findings.

Down Syndrome

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Author :
Publisher :
ISBN 13 :
Total Pages : 552 pages
Book Rating : 4.3/5 (91 download)

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Book Synopsis Down Syndrome by : Siegfried M. Pueschel

Download or read book Down Syndrome written by Siegfried M. Pueschel and published by . This book was released on 1982 with total page 552 pages. Available in PDF, EPUB and Kindle. Book excerpt: Ce document propose un éventail des différentes recherches et découvertes touchant le syndrome de Down, tout particulièrement dans les domaines de la biologie médicale et des sciiences du comportement, En plus de l'historique de ce syndrome, l'étiologie, l'épidémiologie, de la cytogénétique (reproduction cellulaire) et différents aspects bio-médicaux de ce syndrome, il est également abordé le counseling aux parents, l'intervention précoce, le développement cognitif de la personne ainsi que son avenir et son autonomie.

Down Syndrome

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Author :
Publisher : Infobase Publishing
ISBN 13 : 143811950X
Total Pages : 145 pages
Book Rating : 4.4/5 (381 download)

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Book Synopsis Down Syndrome by : F. Fay Evans-Martin

Download or read book Down Syndrome written by F. Fay Evans-Martin and published by Infobase Publishing. This book was released on 2009 with total page 145 pages. Available in PDF, EPUB and Kindle. Book excerpt: Describes the symptoms, diagnosis, treatment, and genetic aspects of Down syndrome.

Protein Expression in Down Syndrome Brain

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Author :
Publisher : Springer Science & Business Media
ISBN 13 : 9783211837320
Total Pages : 390 pages
Book Rating : 4.8/5 (373 download)

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Book Synopsis Protein Expression in Down Syndrome Brain by : G. Lubec

Download or read book Protein Expression in Down Syndrome Brain written by G. Lubec and published by Springer Science & Business Media. This book was released on 2001-10-15 with total page 390 pages. Available in PDF, EPUB and Kindle. Book excerpt: When we worked on Down Syndrome brain in the past we have been focus ing on adult brain. This was a major step forwards as most work on Down Syndrome was carried out on fibroblasts or other tissues and, moreover, we introduced proteomics to identify and quantify brain protein expression. We considered evaluation of brain protein expression in Down Syndrome brain by and by more important than gene hunting at the nucleic acid level realiz ing the long unpredictable way from RNA to protein. The availability of fetal samples along with the proteomic appproach stimulated and reinforced studies on Down Syndrome brain. And indeed, it was found out that some observations on aberrant protein expression in adult Down Syndrome brain could not be verified in the fetal samples indi cating that neurodegeneration in adult Down Syndrome brain may have been responsible rather than trisomy 21. Using brains from the early second trimester of gestation led to the generation of a series of clues for the under standing of aberrant wiring of the brain in Down Syndrome and enabled the determination of altered key functions in early life; e. g. undetectably low drebrin was observed in Down Syndrome cortex, an integral constituent and marker for dendritic spines, main effectors of cross-talk between neurons. In addition, evaluation of the nature of the neuronal deficits in terms of neuro transmission markers could be established as well as neuronal density in fetal Down Syndrome cortex.

State of the Art of Research on Down Syndrome

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Author :
Publisher : Academic Press
ISBN 13 : 0128184558
Total Pages : 306 pages
Book Rating : 4.1/5 (281 download)

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Book Synopsis State of the Art of Research on Down Syndrome by :

Download or read book State of the Art of Research on Down Syndrome written by and published by Academic Press. This book was released on 2019-09-06 with total page 306 pages. Available in PDF, EPUB and Kindle. Book excerpt: State of the Art of Research on Down Syndrome, Volume 56, the latest release in the International Review of Research in Developmental Disabilities series, highlights new advances in the field, with this new volume presenting interesting chapters on the Genetics and Genomics of Down Syndrome, Motor Development and Down Syndrome, Cognitive Profiles in Individuals with Down syndrome, Working Memory and Down syndrome, Environment Learning in Individuals with Down syndrome, Reading for Comprehension: The Contribution of Decoding, Linguistic and Cognitive Skills, Number Sense in Down syndrome, Early Starting States in Infants with Down Syndrome: Implications for Research and Practice, and more. Provides the authority and expertise of leading contributors from an international board of authors Presents the latest release in the International Review of Research in Developmental Disabilities series Updated release includes the latest information on the State of the Art of Research on Down Syndrome

Intellectual Disabilities in Down Syndrome from Birth and Throughout Life: Assessment and Treatment

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Author :
Publisher :
ISBN 13 :
Total Pages : 0 pages
Book Rating : 4.:/5 (136 download)

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Book Synopsis Intellectual Disabilities in Down Syndrome from Birth and Throughout Life: Assessment and Treatment by :

Download or read book Intellectual Disabilities in Down Syndrome from Birth and Throughout Life: Assessment and Treatment written by and published by . This book was released on 2017 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: Research on the multiple aspects of cognitive impairment in Down syndrome (DS), from genes to behavior to treatment, has made tremendous progress in the last decade. The study of congenital intellectual disabilities such as DS is challenging since they originate from the earliest stages of development and both the acquisition of cognitive skills and neurodegenerative pathologies are cumulative. Comorbidities such as cardiac malformations, sleep apnea, diabetes and dementia are frequent in the DS population, as well, and their increased risk provides a means of assessing early stages of these pathologies that is relevant to the general population. Notably, persons with DS will develop the histopathology of Alzheimer's disease (formation of neuritic plaques and tangles) and are at high risk for dementia, something that cannot be predicted in the population at large. Identification of the gene encoding the amyloid precursor protein, its localization to chromosome 21 in the 90's and realization that all persons with DS develop pathology identified this as an important piece of the amyloid cascade hypothesis in Alzheimer's disease. Awareness of the potential role of people with DS in understanding progression and treatment as well as identification of genetic risk factors and also protective factors for AD is reawakening. For the first time since DS was recognized, major pharmaceutical companies have entered the search for ameliorative treatments, and phase II clinical trials to improve learning and memory are in progress. Enriched environment, brain stimulation and alternative therapies are being tested while clinical assessment is improving, thus increasing the chances of success for therapeutic interventions. Researchers and clinicians are actively pursuing the possibility of prenatal treatments for many conditions, an area with a huge potential impact for developmental disorders such as DS. Our goal here is to present an overview of recent advances with an emphasis on behavioral and cognitive deficits and how these issues change through life in DS. The relevance of comorbidities to the end phenotypes described and relevance of pharmacological targets and possible treatments will be considerations throughout.Research on the multiple aspects of cognitive impairment in Down syndrome (DS), from genes to behavior to treatment, has made tremendous progress in the last decade. The study of congenital intellectual disabilities such as DS is challenging since they originate from the earliest stages of development and both the acquisition of cognitive skills and neurodegenerative pathologies are cumulative. Comorbidities such as cardiac malformations, sleep apnea, diabetes and dementia are frequent in the DS population, as well, and their increased risk provides a means of assessing early stages of these pathologies that is relevant to the general population. Notably, persons with DS will develop the histopathology of Alzheimer's disease (formation of neuritic plaques and tangles) and are at high risk for dementia, something that cannot be predicted in the population at large. Identification of the gene encoding the amyloid precursor protein, its localization to chromosome 21 in the 90's and realization that all persons with DS develop pathology identified this as an important piece of the amyloid cascade hypothesis in Alzheimer's disease. Awareness of the potential role of people with DS in understanding progression and treatment as well as identification of genetic risk factors and also protective factors for AD is reawakening. For the first time since DS was recognized, major pharmaceutical companies have entered the search for ameliorative treatments, and phase II clinical trials to improve learning and memory are in progress. Enriched environment, brain stimulation and alternative therapies are being tested while clinical assessment is improving, thus increasing the chances of success for therapeutic interventions. Researchers and clinicians are actively pursuing the possibility of prenatal treatments for many conditions, an area with a huge potential impact for developmental disorders such as DS. Our goal here is to present an overview of recent advances with an emphasis on behavioral and cognitive deficits and how these issues change through life in DS. The relevance of comorbidities to the end phenotypes described and relevance of pharmacological targets and possible treatments will be considerations throughout.

Down Syndrome

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Author :
Publisher : Wiley-Liss
ISBN 13 :
Total Pages : 320 pages
Book Rating : 4.4/5 (91 download)

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Book Synopsis Down Syndrome by : Lynn Nadel

Download or read book Down Syndrome written by Lynn Nadel and published by Wiley-Liss. This book was released on 1995-02-20 with total page 320 pages. Available in PDF, EPUB and Kindle. Book excerpt: Recent advances in medicine are allowing people with Down syndrome to live longer and more productively - while at the same time creating new medical and social challenges for them and the people who provide their care. Down Syndrome: Living and Learning in the Community, which was written under the auspices of the National Down Syndrome Society, provides long-awaited, state-of-the-art information and advice about the disease. This book will prove an invaluable tool for parents and health care professionals, enabling people with Down syndrome to cope with the problems they face and participate to the fullest in community life.

Down Syndrome

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Author :
Publisher : John Wiley & Sons
ISBN 13 : 0471418153
Total Pages : 501 pages
Book Rating : 4.4/5 (714 download)

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Book Synopsis Down Syndrome by : William I. Cohen

Download or read book Down Syndrome written by William I. Cohen and published by John Wiley & Sons. This book was released on 2002-06-06 with total page 501 pages. Available in PDF, EPUB and Kindle. Book excerpt: Providing a comprehensive survey of the clinical, educational, developmental, psychosocial, and transitional issues relevant to people with Down syndrome, this book addresses the needs of family members, caregivers, and professionals alike. Edited in association with the National Down Syndrome Society, this up-to-date treatment incorporates the newest developments concerning sexuality, inclusion, transition into adulthood, and legislation, as well as a discussion of the Human Genome Project and the sequencing of chromosome 21.