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Fragile X Syndrome

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Fragile X Syndrome

Fragile X Syndrome Book
Author : Rob Willemsen,Frank Kooy
Publisher : Academic Press
Release : 2017-05-26
ISBN : 0128045078
Language : En, Es, Fr & De

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Book Description :

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

The Fragile X Associated Tremor Ataxia Syndrome FXTAS

The Fragile X Associated Tremor Ataxia Syndrome  FXTAS  Book
Author : Flora Tassone,Elizabeth M. Berry-Kravis
Publisher : Springer Science & Business Media
Release : 2010-06-02
ISBN : 9781441958051
Language : En, Es, Fr & De

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Book Description :

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.

The Fragile X Syndrome

The Fragile X Syndrome Book
Author : Kay E. Davies
Publisher : Oxford University Press, USA
Release : 1989
ISBN : 0987650XXX
Language : En, Es, Fr & De

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Book Description :

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.

Understanding Fragile X Syndrome

Understanding Fragile X Syndrome Book
Author : Isabel Fernández Carvajal,David Aldridge
Publisher : Jessica Kingsley Publishers
Release : 2011-08-15
ISBN : 9780857004376
Language : En, Es, Fr & De

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Book Description :

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.

The Causes of Epilepsy

The Causes of Epilepsy Book
Author : Simon D. Shorvon,Frederick Andermann,Renzo Guerrini
Publisher : Cambridge University Press
Release : 2011-04-14
ISBN : 113949578X
Language : En, Es, Fr & De

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Book Description :

Causation is an aspect of epilepsy neglected in the scientific literature and in the conceptualization of epilepsy at a clinical and experimental level. It was to remedy this deficiency that this book was conceived. The book opens with a draft etiological classification that goes some way to filling the nosological void. The book is divided into four etiological categories: idiopathic, symptomatic, cryptogenic, and provoked epilepsies. Each chapter considers topics in a consistent fashion, dealing with the phenomenon of epilepsy in each etiology, including its epidemiology, clinical features and prognosis, and any specific aspects of treatment. The book is a comprehensive reference work, a catalogue of all important causes of epilepsy, and a clinical tool for all clinicians dealing with patients who have epilepsy. It is aimed at epileptologists and neurologists and provides a distillation of knowledge in a form that is helpful in the clinical setting.

Cassidy and Allanson s Management of Genetic Syndromes

Cassidy and Allanson s Management of Genetic Syndromes Book
Author : John C. Carey,Suzanne B. Cassidy,Agatino Battaglia,David Viskochil
Publisher : John Wiley & Sons
Release : 2021-01-27
ISBN : 1119432677
Language : En, Es, Fr & De

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Book Description :

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.

Fragile X Syndrome and Premutation Disorders

Fragile X Syndrome and Premutation Disorders Book
Author : Randi Hagerman,Paul Hagerman
Publisher : Mac Keith Press
Release : 2020-12-21
ISBN : 9781911612377
Language : En, Es, Fr & De

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Book Description :

This book covers both molecular and clinical aspects of Fragile X Syndrome (FXS) and premutation disorders so that new targeted treatments can be understood by clinicians and parents. It covers all premutation disorders including FXTAS, FXPOI and FXAND problems. The main focus is to help clinicians to give the best care possible to patients with FXS and to understand a multidisciplinary treatment approach. Underserved populations such as babies and toddlers with FXS and mothers with the full mutation are highlighted, including the treatments that can be beneficial to them. This book also discuss fragile X associated disorders as they impact the family whose proband has FXS. A highlight of this book is the international perspective on how different cultures deal with FXS and targeted treatments.

Educating Children with Fragile X Syndrome

Educating Children with Fragile X Syndrome Book
Author : Denise Dew-Hughes
Publisher : Routledge
Release : 2003-12-16
ISBN : 1134378114
Language : En, Es, Fr & De

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Book Description :

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

Fragile X Syndrome Book
Author : Randi Jenssen Hagerman,Paul J. Hagerman
Publisher : JHU Press
Release : 2002-05-17
ISBN : 9780801868436
Language : En, Es, Fr & De

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Book Description :

"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

Neuronal and Synaptic Dysfunction in Autism Spectrum Disorder and Intellectual Disability

Neuronal and Synaptic Dysfunction in Autism Spectrum Disorder and Intellectual Disability Book
Author : Carlo Sala,Chiara Verpelli
Publisher : Academic Press
Release : 2016-04-30
ISBN : 0128005335
Language : En, Es, Fr & De

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Book Description :

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

Supporting Children with Fragile X Syndrome

Supporting Children with Fragile X Syndrome Book
Author : Hull Learning Services
Publisher : Routledge
Release : 2014-07-10
ISBN : 1134021860
Language : En, Es, Fr & De

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Book Description :

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

Fragile X Syndrome

Fragile X Syndrome Book
Author : Suzanne Saunders
Publisher : Routledge
Release : 2013-10-18
ISBN : 1134102224
Language : En, Es, Fr & De

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Book Description :

Fragile X Syndrome is thought to be the most common inherited cause of learning difficulties. However many people have never heard of it and those who have, including many of the professionals who work with those affected by it, have little knowledge or understanding of the condition. This book brings up to date research with information and advice from teachers who are discovering, first hand, the best ways of educating children with Fragile X. It is much needed support and advice that will help teachers to understand the child with Fragile X and encourage maximum educational progress. / While the book is aimed at teachers, it is also an excellent resource for parents, therapists and any professional working with a child who has Fragile X.

The Carriers

The Carriers Book
Author : Anne Skomorowsky
Publisher : Columbia University Press
Release : 2022-05-03
ISBN : 0231552289
Language : En, Es, Fr & De

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Book Description :

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

Fragile X Syndrome Book
Author : Randi Jenssen Hagerman
Publisher : Unknown
Release : 1996
ISBN : 9780801853883
Language : En, Es, Fr & De

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Book Description :

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

The Broken Toy

The Broken Toy Book
Author : Marilyn Morgan MS Ed.,Marilyn Morgan
Publisher : AuthorHouse
Release : 2005-04
ISBN : 1420829505
Language : En, Es, Fr & De

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Book Description :

"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.

Neuroimaging in Developmental Clinical Neuroscience

Neuroimaging in Developmental Clinical Neuroscience Book
Author : Judith M. Rumsey,Monique Ernst
Publisher : Cambridge University Press
Release : 2009-02-19
ISBN : 9781139476751
Language : En, Es, Fr & De

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Book Description :

Modern neuroimaging offers tremendous opportunities for gaining insights into normative development and a wide array of developmental neuropsychiatric disorders. Focusing on ontogeny, this text covers basic processes involved in both healthy and atypical maturation, and also addresses the range of neuroimaging techniques most widely used for studying children. This book will enable you to understand normative structural and functional brain maturation and the mechanisms underlying basic developmental processes; become familiar with current knowledge and hypotheses concerning the neural bases of developmental neuropsychiatric disorders; and learn about neuroimaging techniques, including their unique strengths and limitations. Coverage includes normal developmental processes, atypical processing in developmental neuropsychiatric disorders, ethical issues, neuroimaging techniques and their integration with psychopharmacologic and molecular genetic research approaches, and future directions. This comprehensive volume is an essential resource for neurologists, neuropsychologists, psychiatrists, pediatricians, and radiologists concerned with normal development and developmental neuropsychiatric disorders.

Educating Children with Fragile X Syndrome

Educating Children with Fragile X Syndrome Book
Author : Denise Dew-Hughes
Publisher : Unknown
Release : 2016-07-15
ISBN : 9781138147843
Language : En, Es, Fr & De

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Book Description :

What is Fragile X? The most common inherited cause of learning difficulties, affecting a child's ability to tackle key areas such as literacy and numeracy, and causing behaviour problems and social anxiety. What can teachers do to help children with Fragile X become more effective learners? This definitive text will provide essential support and information for teachers with the expertise of an international field of researchers, whose variety of perspectives contribute to a unique, multi-professional approach. Each chapter of the book suggests practical intervention strategies, based on sound educational principles expressed in clear non-specific terms. A range of important topics are considered, including: * the physical and behavioural characteristics of Fragile X * the effects of Fragile X on learning * medication and therapy * related conditions such as autism and attention deficit disorders. Breaking down the barriers of professional practice, this book establishes the groundwork for successful and valuable multi-professional teamwork. By providing immediate access to a body of empirical knowledge and advice from other disciplines, it will encourage teachers to incorporate this approach into their own practice. Everyone responsible for the education of a child with Fragile X syndrome should read this book.

Fragile X Syndrome

Fragile X Syndrome Book
Author : Dalit Ben-Yosef,Yoav Mayshar
Publisher : Unknown
Release : 2019
ISBN : 9781493990801
Language : En, Es, Fr & De

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Book Description :

Download Fragile X Syndrome book written by Dalit Ben-Yosef,Yoav Mayshar, available in PDF, EPUB, and Kindle, or read full book online anywhere and anytime. Compatible with any devices.

Speech Language Development Intervention in Down Syndrome Fragile X Syndrome

Speech   Language Development   Intervention in Down Syndrome   Fragile X Syndrome Book
Author : Joanne Erwick Roberts,Robin S. Chapman,Steven F. Warren
Publisher : Brookes Pub
Release : 2008
ISBN : 0987650XXX
Language : En, Es, Fr & De

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Book Description :

Written by leading experts, this is the most up-to-date resource on speech and language assessment and intervention for professionals working with infants to adults with Down Syndrome and Fragile X Syndrome.

Understanding Fragile X Syndrome

Understanding Fragile X Syndrome Book
Author : Isabel Fernández Carvajal,David Aldridge
Publisher : Jessica Kingsley Publishers
Release : 2011-08-15
ISBN : 9780857004376
Language : En, Es, Fr & De

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Book Description :

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.