Are you looking for read ebook online? Search for your book and save it on your Kindle device, PC, phones or tablets. Download The Fragile X Syndrome PDF full book. Access full book title The Fragile X Syndrome by Kay E. Davies. Download full books in PDF and EPUB format.
Author: Kay E. Davies Publisher: Oxford University Press, USA ISBN: Category : Language Arts & Disciplines Languages : en Pages : 150
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.
Author: Kay E. Davies Publisher: Oxford University Press, USA ISBN: Category : Language Arts & Disciplines Languages : en Pages : 150
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.
Author: Isabel Fernández Carvajal Publisher: Jessica Kingsley Publishers ISBN: 0857004379 Category : Health & Fitness Languages : en Pages : 114
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.
Author: Anne Skomorowsky Publisher: Columbia University Press ISBN: 0231552289 Category : Medical Languages : en Pages : 118
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.
Author: Randi Jenssen Hagerman Publisher: ISBN: 9780801853883 Category : Fragile X syndrome Languages : en Pages : 481
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
Author: John C. Carey Publisher: John Wiley & Sons ISBN: 1119432677 Category : Science Languages : en Pages : 1104
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.
Author: Denise Dew-Hughes Publisher: Routledge ISBN: 1134378106 Category : Education Languages : en Pages : 272
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.
Author: Dalit Ben-Yosef Publisher: Humana Press ISBN: 9781493990795 Category : Science Languages : en Pages : 192
Book Description
This volume discusses the latest technologies used to study all aspects of Fragile-X Syndrome (FXS). The chapters in this book cover topics such as monitoring for epigenetic modifications at the FMR1 locus; modeling FXS with human pluripotent stem cells, mouse neural progenitors; mouse versus human-based models for FXS pre-clinical research; and Fragile-X associated with Tremor/Ataxia Syndrome (FXTAS). Written in the highly successful Methods in Molecular Biology series format, chapters include introductions to their respective topics, lists of the necessary materials and reagents, step-by-step, readily reproducible laboratory protocols, and tips on troubleshooting and avoiding known pitfalls. Cutting-edge and thorough, Fragile-X Syndrome: Methods and Protocols is a valuable tool to help scientists working towards one day developing a therapeutic solution to improve the symptoms of FXS. Chapter "Induced Neurons for the Study of Neurodegenerative and Neurodevelopmental Disorders" is available open access under a Creative Commons Attribution 4.0 International License via link.springer.com.
Author: Elizabeth Griffin Publisher: YWAM Publishing ISBN: 9781932096163 Category : Family & Relationships Languages : en Pages : 116
Book Description
Written by a mother whose son has fragile X syndrome and autism this book is about her reaction and coping strategies in relating to her son. She openly discusses working through her grief, anger and fears that her son's diagnosis brought and reinforces that it is possible to survive and find joy in parenting a special needs child.
Author: Nathan Azrin Publisher: Gallery Books ISBN: 1982120754 Category : Family & Relationships Languages : en Pages : 192
Book Description
In this newly modernized edition of the classic, bestselling book on toilet training, you’ll discover the scientifically proven Azrin-Foxx method that’s been used by millions of parents worldwide. This clear and accessible guide remains the go-to book on toilet training for a reason. With a newly modernized take on the same proven, easy-to-follow steps, you’ll learn how to let go of stress and have your child confidently using the toilet—without assistance or a reminder—in only a couple of hours. Inside you will find a wealth of helpful information, including: - Step-by-step instructions taking you and your child from pre-training all the way through to the Potty Training Diploma - A method that unlocks your child’s sense of pride, independence, and accomplishment - Supply lists, reminder sheets, and frequently asked questions With more than two million copies sold, Toilet Training in Less Than a Day is the only guide you'll ever need to make potty training a rewarding and successful experience for both you and your toddler.
Author: Kay E. Davies
Author: Kay E. Davies
Author: Isabel Fernández Carvajal
Author: Regina Dahlhaus
Author: Anne Skomorowsky
Author: Randi Jenssen Hagerman
Author: John C. Carey
Author: Denise Dew-Hughes
Author: Dalit Ben-Yosef
Author: Elizabeth Griffin
Author: Nathan Azrin