Children With Fragile X Syndrome

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Children with Fragile X Syndrome

Jayne Dixon Weber
Children with Fragile X Syndrome Book PDF

Author : Jayne Dixon Weber
Publisher : Unknown
Page : 0 pages
File Size : 51,8 Mb
Release : 2000
Category : Family & Relationships
ISBN : 0933149778

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Children with Fragile X Syndrome by Jayne Dixon Weber Pdf

Fragile X syndrome is believed to be the most common genetic cause of mental retardation, even more common than Down syndrome. It can result in a wide range of developmental delays, learning disabilities, and physical characteristics -- which all tend to be more pronounced in boys than in girls. At last, there is a comprehensive book on fragile X syndrome for parents. The first and only book of its kind, this book provides a complete, sensitive introduction to fragile X syndrome, an inherited, genetic condition caused by a mutation on the X-chromosome. This new guide is written by an experienced, caring group of parents, doctors, therapists, and teachers, who offer an in-depth look at the issues and concerns affecting children and their families.

The Fragile X-Associated Tremor Ataxia Syndrome (FXTAS)

Flora Tassone,Elizabeth M. Berry-Kravis
The Fragile X Associated Tremor Ataxia Syndrome FXTAS Book PDF

Author : Flora Tassone,Elizabeth M. Berry-Kravis
Publisher : Springer Science & Business Media
Page : 188 pages
File Size : 40,6 Mb
Release : 2010-06-02
Category : Medical
ISBN : 1441958053

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The Fragile X-Associated Tremor Ataxia Syndrome (FXTAS) by Flora Tassone,Elizabeth M. Berry-Kravis Pdf

In Fragile X-Associated Tremor Ataxia Syndrome (FXTAS), the editors present information on all aspects of FXTAS, including clinical features and current supportive management, radiological, psychological, and pathological findings, genotype-phenotype relationships, animal models and basic molecular mechanisms. Genetic counseling issues are also discussed. The book should serve as a resource for professionals in all fields regarding diagnosis, management, and counseling of patients with FXTAS and their families, as well as presenting the molecular basis for disease that may lead to the identification of new markers to predict disease risk and eventually lead to target treatments.

Educating Children with Fragile X Syndrome

Denise Dew-Hughes
Educating Children with Fragile X Syndrome Book PDF

Author : Denise Dew-Hughes
Publisher : Routledge
Page : 209 pages
File Size : 40,6 Mb
Release : 2003-12-16
Category : Education
ISBN : 9781134378111

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Educating Children with Fragile X Syndrome by Denise Dew-Hughes Pdf

Fragile X syndrome is the most common inherited cause of learning difficulties and causes behaviour problems and social anxiety. This text provides support and information for teachers, for whom meeting the educational need of children with Fragile X presents demanding challenges.

Fragile X Syndrome

Randi Jenssen Hagerman,Paul J. Hagerman
Fragile X Syndrome Book PDF

Author : Randi Jenssen Hagerman,Paul J. Hagerman
Publisher : JHU Press
Page : 562 pages
File Size : 42,9 Mb
Release : 2002-05-17
Category : Medical
ISBN : 0801868432

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Fragile X Syndrome by Randi Jenssen Hagerman,Paul J. Hagerman Pdf

Fragile X syndrome is the most common inherited form of mental retardation. Revised for its third edition, this book discusses the clinical approach to diagnosing the disorder, supported by current research, and presents information on treatment.

Understanding Fragile X Syndrome

Isabel Fernández Carvajal,David Aldridge
Understanding Fragile X Syndrome Book PDF

Author : Isabel Fernández Carvajal,David Aldridge
Publisher : Jessica Kingsley Publishers
Page : 112 pages
File Size : 41,9 Mb
Release : 2011-08-15
Category : Health & Fitness
ISBN : 0857004379

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Understanding Fragile X Syndrome by Isabel Fernández Carvajal,David Aldridge Pdf

Fragile X syndrome is one of the main causes of child developmental delay and autism spectrum disorders. A premutated form of the same gene is also the basis for neurological disabilities in adults. This book breaks down the complex science of this genetic disorder and provides the facts and advice that every bewildered parent or professional needs to support individuals with Fragile X syndrome. This handbook offers a straightforward introduction that clearly explains the condition on both a scientific and practical level. With sections on diagnosis, symptoms and treatment, as well as discussions of various emotional and behavioral considerations, the book covers all aspects Fragile X syndrome, its implications, and the possibilities open to families affected by it. The book demonstrates how with the right therapies progress can be made and emphasizes how music can be used effectively to promote communication, interaction, fine motor skills and responsiveness in children with the condition. This is an essential reference tool for families of individuals with Fragile X syndrome, as well as therapists and healthcare professionals who are unfamiliar with the condition and looking to find out more.

Supporting Children with Fragile X Syndrome

Hull Learning Services
Supporting Children with Fragile X Syndrome Book PDF

Author : Hull Learning Services
Publisher : Routledge
Page : 52 pages
File Size : 44,7 Mb
Release : 2014-07-10
Category : Education
ISBN : 9781134021932

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Supporting Children with Fragile X Syndrome by Hull Learning Services Pdf

Off-the-shelf support containing all the vital information practitioners need to know about Fragile X Syndrome, this book includes: * Definition of Fragile X Syndrome and its educational implications * Ideas on how to improve access to the curriculum * Advice on how to manage support staff * Guidance on coordinating home and school liaison

The Fragile X Syndrome

Kay E. Davies
The Fragile X Syndrome Book PDF

Author : Kay E. Davies
Publisher : Oxford University Press, USA
Page : 150 pages
File Size : 43,6 Mb
Release : 1989
Category : Language Arts & Disciplines
ISBN : UOM:39015015056412

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The Fragile X Syndrome by Kay E. Davies Pdf

This new book is an up-to-date review of the clinical, epidemiological, and cytogenetic aspects of the fragile X (Martin-Bell) syndrome--the most common genetic cause of mental retardation after Down syndrome. The book includes the latest research findings concerning diagnosis on the basis of the appearance of a fragile site in cultured lymphocytes. It assumes little prior knowledge of the subject, and provides a clearly written, easy-to-understand discussion previously unavailable in a single reference source. The book will be of special interest to molecular biologists, cytogeneticists, medical geneticists, and clinicians and other professionals working with the mentally handicapped.

Fragile X Syndrome

Randi Jenssen Hagerman
Fragile X Syndrome Book PDF

Author : Randi Jenssen Hagerman
Publisher : Unknown
Page : 481 pages
File Size : 52,6 Mb
Release : 1996
Category : Fragile X syndrome
ISBN : 0801853885

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Fragile X Syndrome by Randi Jenssen Hagerman Pdf

This new edition of Fragile X Syndrome includes updated information on the latest research findings -- especially in molecular biology -- as well as new photographs highlighting clinical features and thorough coverage of treatment and intervention, diagnosis, and research. Praise for the first edition: "Answers nearly all the questions that parents or clinicians might raise about fragile X syndrome....Can be recommended confidently as a thoroughly up-to-date, reliable, and informative account of the condition." -- Lancet "The clinical and cytogenetic material in this book is excellent and provides a strong background for physicians and students... Fragile X Syndrome still presents the best comprehensive treatment of this complex disorder. Physicians, students, and other interested professionals can either read this book from cover to cover or select the chapters that interest or apply to them." -- New England Journal of Medicine

Supporting Children with Fragile X Syndrome

Hull Learning Services
Supporting Children with Fragile X Syndrome Book PDF

Author : Hull Learning Services
Publisher : Routledge
Page : 52 pages
File Size : 46,7 Mb
Release : 2014-07-10
Category : Education
ISBN : 9781134021864

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Supporting Children with Fragile X Syndrome by Hull Learning Services Pdf

Off-the-shelf support containing all the vital information practitioners need to know about Fragile X Syndrome, this book includes: * Definition of Fragile X Syndrome and its educational implications * Ideas on how to improve access to the curriculum * Advice on how to manage support staff * Guidance on coordinating home and school liaison

The Carriers

Anne Skomorowsky
The Carriers Book PDF

Author : Anne Skomorowsky
Publisher : Columbia University Press
Page : 118 pages
File Size : 52,6 Mb
Release : 2022-05-03
Category : Medical
ISBN : 9780231552288

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The Carriers by Anne Skomorowsky Pdf

A tiny mutation on the X chromosome can shape a family’s history. Passed down from a “carrier” parent to a child, fragile X syndrome is the most common inherited cause of intellectual disability and autism. Beyond that—and a rarity among genetic disorders—some fragile X carriers not only transmit the mutation but also experience related conditions themselves. In such cases, carriers can have tremors, infertility, and psychiatric disorders that complicate raising children with fragile X syndrome—and all too often, they suffer in silence. The Carriers investigates this common but still little-known genetic condition and its life-altering consequences. Anne Skomorowsky reveals how this disorder afflicts families across generations, telling the stories of the mothers and grandparents of fragile X patients and considering how genes interact with family dynamics. She interweaves the personal narratives and family histories of the people affected by fragile X disorders with clear and accessible explanations of the science behind them. Skomorowsky unpacks the latest research on the fragile X mutation and explores the history of its discovery. She highlights the roles of women as carriers, caregivers, and researchers who have made astonishing scientific breakthroughs over the last three decades. The Carriers is an essential book for fragile X families, including those just learning they are carriers, and for all readers interested in the complexities of heredity, the ethical dilemmas of genetic medicine, and the relationship between genes and personality.

Fragile X Syndrome

Rob Willemsen,Frank Kooy
Fragile X Syndrome Book PDF

Author : Rob Willemsen,Frank Kooy
Publisher : Academic Press
Page : 498 pages
File Size : 50,8 Mb
Release : 2017-05-26
Category : Science
ISBN : 9780128045077

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Fragile X Syndrome by Rob Willemsen,Frank Kooy Pdf

Fragile X Syndrome: From Genetics to Targeted Treatment provides a structured overview of the molecular and clinical background of the disorder as well as treatment options. The book discusses the detailed molecular information on each of the pathways involved with sufficient details for all whose research touches this pathway. It provides a state-of-the-art update on all clinical aspects associated with this syndrome, including phenotype, diagnostics and epidemiology. It also includes an overview of the lessons learned from the preclinical research and pioneering trials on the fragile X syndrome for the investigators involved in clinical trials of neurodevelopmental disorders. This book is written for academic researchers, pharmaceutical investigators, and clinicians in the field who work on the disorder, and for researchers involved in clinical trials of the fragile X syndrome or related disorders. Provides a comprehensive overview of the molecular genetics, clinical trials, and treatment of Fragile X Syndrome Written for academic researchers, pharmaceutical investigators, and clinicians in the field Edited by international leaders in the field who have contributed greatly to the study of Fragile X Syndrome Directs the reader through complex issues surrounding FXS and draws the literature together for researchers and clinicians

Cassidy and Allanson's Management of Genetic Syndromes

John C. Carey,Suzanne B. Cassidy,Agatino Battaglia,David Viskochil
Cassidy and Allanson s Management of Genetic Syndromes Book PDF

Author : John C. Carey,Suzanne B. Cassidy,Agatino Battaglia,David Viskochil
Publisher : John Wiley & Sons
Page : 1104 pages
File Size : 42,6 Mb
Release : 2021-01-27
Category : Science
ISBN : 9781119432678

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Cassidy and Allanson's Management of Genetic Syndromes by John C. Carey,Suzanne B. Cassidy,Agatino Battaglia,David Viskochil Pdf

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.

The Broken Toy

Marilyn Morgan MS Ed.
The Broken Toy Book PDF

Author : Marilyn Morgan MS Ed.
Publisher : AuthorHouse
Page : 112 pages
File Size : 47,6 Mb
Release : 2005-04
Category : Family & Relationships
ISBN : 9781420829501

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The Broken Toy by Marilyn Morgan MS Ed. Pdf

"The Broken Toy: A Story of a Fragile X Syndrome Child" is an inspirational account detailing the trials and triumphs of raising a special needs child. The goal is to help each and every parent with the courage, common sense, appropriate education, and love needed in raising their son or daughter. Determination and years of training resulted in an adult filled with hope, ability, and the opportunity for a productive life. This emotional tale of one child with a "disability" will serve as support for all parents. The Broken Toy details an engrossing and absorbing description of a special child's development from infancy to adulthood. The author's common sense approach to parenting will assist all parents in their life-long journey.

Neuronal and Synaptic Dysfunction in Autism Spectrum Disorder and Intellectual Disability

Carlo Sala,Chiara Verpelli
Neuronal and Synaptic Dysfunction in Autism Spectrum Disorder and Intellectual Disability Book PDF

Author : Carlo Sala,Chiara Verpelli
Publisher : Academic Press
Page : 394 pages
File Size : 45,9 Mb
Release : 2016-04-30
Category : Medical
ISBN : 9780128005330

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Neuronal and Synaptic Dysfunction in Autism Spectrum Disorder and Intellectual Disability by Carlo Sala,Chiara Verpelli Pdf

Neuronal and Synaptic Dysfunction in Autism Spectrum Disorder and Intellectual Disability provides the latest information on Autism spectrum disorders (ASDs), the lifelong neurodevelopmental disorders that present in early childhood and affect how individuals communicate and relate to others and their surroundings. In addition, three quarters of ASD patients also manifest severe intellectual disability. Though certain genes have been implicated, ASDs remain largely a mystery, and research looking into causes and cellular deficits are crucial for better understanding of neurodevelopmental disorders. Despite the prevalence and insidious nature of this disorder, this book remains to be an extensive resource of information and background on the state of current research in the field. The book serves as a reference for this purpose, and discusses the crucial role synaptic activity plays in proper brain function. In addition, the volume discusses the neurodevelopmental synaptopathies and serves as a resource for scientists and clinicians in all biomedical science specialties. This research has been crucial for recent studies that have provided a rationale for the development of pharmacological agents able to counteract functional synaptic anomalies and potentially ameliorate some ASD symptoms. Introduces the genetic and non-genetic causes of autism and associated intellectual disabilities Describes the genes implicated in autistic spectrum disorders and their function Considers major individual genetic causes of autism, Rett syndrome, Fragile X syndrome, and other autism spectrum disorders, as well as their classification as synaptopathies Presents a thorough discussion of the clinical aspects of multiple neurodevelopmental disorders and the experimental models that exist to study their pathophysiology in vitro and in vivo, including animal models and patient-derived stem cell culture

Spelling Love with an X

Clare Dunsford
Spelling Love with an X Book PDF

Author : Clare Dunsford
Publisher : Beacon Press
Page : 230 pages
File Size : 40,7 Mb
Release : 2007
Category : Biography & Autobiography
ISBN : 0807072796

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Spelling Love with an X by Clare Dunsford Pdf

A memoir in which the author tells how she and her husband learned their son J.P. had fragile X syndrome, the most common inherited form of mental retardation, discusses how she and other family members reacted to the news that they carried the premutation and had passed it to their children, and describes life with J.P., now a confident, imaginative adult.