Fragile X Syndrome Book

Fragile X Syndrome


  • Author : Rob Willemsen
  • Publisher : Academic Press
  • Release Date : 2017-05-26
  • Genre: Science
  • Pages : 498
  • ISBN 10 : 9780128045077

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Fragile X Syndrome Excerpt :

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  Book

The Fragile X Associated Tremor Ataxia Syndrome FXTAS


  • Author : Flora Tassone
  • Publisher : Springer Science & Business Media
  • Release Date : 2010-06-02
  • Genre: Medical
  • Pages : 188
  • ISBN 10 : 1441958053

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The Fragile X Associated Tremor Ataxia Syndrome FXTAS Excerpt :

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 Book

The Fragile X Syndrome


  • Author : Kay E. Davies
  • Publisher : Oxford University Press, USA
  • Release Date : 1989
  • Genre: Chromosome Abnormalities
  • Pages : 138
  • ISBN 10 : UOM:39015015056412

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The Fragile X Syndrome Excerpt :

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

Supporting Children with Fragile X Syndrome Book

Supporting Children with Fragile X Syndrome


  • Author : Hull Learning Services
  • Publisher : Routledge
  • Release Date : 2014-07-10
  • Genre: Education
  • Pages : 52
  • ISBN 10 : 9781134021864

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Supporting Children with Fragile X Syndrome Excerpt :

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

Understanding Fragile X Syndrome Book

Understanding Fragile X Syndrome


  • Author : Isabel Fernández Carvajal
  • Publisher : Jessica Kingsley Publishers
  • Release Date : 2011
  • Genre: Health & Fitness
  • Pages : 109
  • ISBN 10 : 9781843109914

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Understanding Fragile X Syndrome Excerpt :

Fragile X syndrome is one of the main causes of child developmental delay and autism spectrum disorders. 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.

Cassidy and Allanson s Management of Genetic Syndromes Book

Cassidy and Allanson s Management of Genetic Syndromes


  • Author : John C. Carey
  • Publisher : John Wiley & Sons
  • Release Date : 2021-01-27
  • Genre: Science
  • Pages : 1104
  • ISBN 10 : 9781119432678

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Cassidy and Allanson s Management of Genetic Syndromes Excerpt :

The most recent update to one of the most essential references on medical genetics Cassidy and Allanson's Management of Genetic Syndromes, 4th 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 for students, clinicians, and researchers in the field of medical genetics. The 4th 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. Each, "expert authored", 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 health care professionals seeking to stay current on the routine care and management of individuals with genetic disorders.

Fragile X Syndrome Book

Fragile X Syndrome


  • Author : Dalit Ben-Yosef
  • Publisher : Unknown
  • Release Date : 2019
  • Genre: Fragile X syndrome
  • Pages : 192
  • ISBN 10 : 1493990802

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Fragile X Syndrome Excerpt :

Neuronal and Synaptic Dysfunction in Autism Spectrum Disorder and Intellectual Disability Book

Neuronal and Synaptic Dysfunction in Autism Spectrum Disorder and Intellectual Disability


  • Author : Carlo Sala
  • Publisher : Academic Press
  • Release Date : 2016-04-30
  • Genre: Medical
  • Pages : 394
  • ISBN 10 : 9780128005330

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Neuronal and Synaptic Dysfunction in Autism Spectrum Disorder and Intellectual Disability Excerpt :

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

Educating Children with Fragile X Syndrome Book

Educating Children with Fragile X Syndrome


  • Author : Denise Dew-Hughes
  • Publisher : Routledge
  • Release Date : 2003-12-16
  • Genre: Education
  • Pages : 212
  • ISBN 10 : 9781134378104

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Educating Children with Fragile X Syndrome Excerpt :

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.

The Causes of Epilepsy Book

The Causes of Epilepsy


  • Author : Simon D. Shorvon
  • Publisher : Cambridge University Press
  • Release Date : 2011-04-14
  • Genre: Medical
  • Pages : null
  • ISBN 10 : 9781139495783

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The Causes of Epilepsy Excerpt :

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.

Fragile X Syndrome Book

Fragile X Syndrome


  • Author : Suzanne Saunders
  • Publisher : Routledge
  • Release Date : 2013-10-18
  • Genre: Education
  • Pages : 128
  • ISBN 10 : 9781134102297

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Fragile X Syndrome Excerpt :

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.

Fragile X Syndrome and Premutation Disorders Book

Fragile X Syndrome and Premutation Disorders


  • Author : Randi Hagerman
  • Publisher : Mac Keith Press
  • Release Date : 2020-12-21
  • Genre: Medical
  • Pages : 660
  • ISBN 10 : 1911612379

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Fragile X Syndrome and Premutation Disorders Excerpt :

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.

The Carriers Book
Score: 5
From 1 Ratings

The Carriers


  • Author : Anne Skomorowsky
  • Publisher : Columbia University Press
  • Release Date : 2022-05-03
  • Genre: Medical
  • Pages : null
  • ISBN 10 : 9780231552288

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The Carriers Excerpt :

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.

The Broken Toy Book

The Broken Toy


  • Author : Marilyn Morgan
  • Publisher : AuthorHouse
  • Release Date : 2005-04
  • Genre: Family & Relationships
  • Pages : 108
  • ISBN 10 : 9781420829501

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The Broken Toy Excerpt :

J. G. Morris' works of poetry are based on personal life experiences which was a source of therapy in dealing with personal tragedy in later years. Writing poetry, short stories and song writing gave her a chance to expand the many facets of her creativity by producing a book full of fictional and non-fictional imagination. Her philosophy of inspirations were three reasons: "Life in general, the lives of fascinating people, and good old-fashioned imagination, period!" Reflections in a Waterpool, Dripping Rain and Light of Day spans writings of at least 30 years and makes for interesting reading. It also includes the debut of the Illustrator, 9 year old Caitlin McCaslin of which in her name partial proceeds will be donated to the M.I.N.D. Institute.

Treatment of Neurodevelopmental Disorders Book

Treatment of Neurodevelopmental Disorders


  • Author : Randi Jenssen Hagerman
  • Publisher : Oxford University Press, USA
  • Release Date : 2014
  • Genre: Medical
  • Pages : 376
  • ISBN 10 : 9780199937806

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Treatment of Neurodevelopmental Disorders Excerpt :

This cutting-edge book brings advances in genetics, neurobiology, and psychopharmacology to the clinic to enhance treatment for neurodevelopmental disorders. Significant progress has been made in identifying the neurobiological mechanisms of several disorders and targeted treatments are modifying the outcome of these disorders. However, the ability to utilize this knowledge has not been summarized in one place for the practicing clinician. This book will fill that gap by providing the theoretical underpinnings and the latest advances in targeted treatments. Several neurodevelopmental disorders are reviewed in detail including clinical features and behavioral phenotypes, standard treatments and new targeted treatments based on the latest advances in neurobiology and the animal model studies that have led to new treatments. The disorders covered include psychiatric disorders: schizophrenia, depression, autism and ADHD; single gene disorders including Tuberous Sclerosis, Fragile X Syndrome and fragile X- associated disorders, Angelman Syndrome, PKU, and Muscular Dystrophies; and complex genetic disorders such as Down syndrome. This book also highlights the commonalities across disorders and new genetic and molecular concepts in an easy to read format. This is a very exciting time for new targeted treatments and this volume is a landmark treatise on this new age of treatment.