Fragile X Syndrome And Premutation Disorders

Author : Randi Hagerman,Paul Hagerman
Publisher : Mac Keith Press
Page : 660 pages
File Size : 48,7 Mb
Release : 2020-12-21
Category : Medical
ISBN : 1911612379

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Fragile X Syndrome and Premutation Disorders by Randi Hagerman,Paul Hagerman Pdf

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.

Author : Randi Jenssen Hagerman,Paul J. Hagerman
Publisher : Unknown
Page : 128 pages
File Size : 54,8 Mb
Release : 2020
Category : Autism
ISBN : 1911612409

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

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.

Author : Randi Jenssen Hagerman,Paul J. Hagerman
Publisher : Unknown
Page : 128 pages
File Size : 46,7 Mb
Release : 2020
Category : Autism
ISBN : 1911612387

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

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.

Author : John C. Carey,Suzanne B. Cassidy,Agatino Battaglia,David Viskochil
Publisher : John Wiley & Sons
Page : 1104 pages
File Size : 45,5 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.

Author : Flora Tassone,Deborah A. Hall
Publisher : Springer
Page : 293 pages
File Size : 40,9 Mb
Release : 2016-11-17
Category : Medical
ISBN : 9783319338989

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FXTAS, FXPOI, and Other Premutation Disorders by Flora Tassone,Deborah A. Hall Pdf

This book should serve as a resource for professionals in all fields regarding diagnosis, management, and counseling of patients with FXTAS, FXPOI 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 book will present information on all aspects of FXTAS, FXPOI and other premutation disorders 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.

Author : Anne Skomorowsky
Publisher : Columbia University Press
Page : 118 pages
File Size : 54,6 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.

Author : Isabel Fernández Carvajal,David Aldridge
Publisher : Jessica Kingsley Publishers
Page : 112 pages
File Size : 45,6 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.

Author : Kay E. Davies
Publisher : Oxford University Press, USA
Page : 150 pages
File Size : 42,9 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.

Author : Simon Shorvon,Renzo Guerrini,Eugen Trinka,Steven Schachter
Publisher : Cambridge University Press
Page : 1013 pages
File Size : 51,5 Mb
Release : 2019-05-02
Category : Medical
ISBN : 9781108420754

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The Causes of Epilepsy by Simon Shorvon,Renzo Guerrini,Eugen Trinka,Steven Schachter Pdf

Expanded and revised, this unique book provides concise descriptions of the many causes of epilepsy, for use in clinical practice.

Author : Montserrat Milà
Publisher : Nova Science Publishers
Page : 151 pages
File Size : 46,5 Mb
Release : 2015
Category : Ataxia
ISBN : 1634633148

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Allelic Forms of the FMR1 Gene by Montserrat Milà Pdf

The FMR1 gene is an example of how a single gene can have different phenotypic effects. Indeed, since its discovery in 1991 it has revealed new facets: classic Fragile X syndrome (FXS), Fragile X premature ovarian insufficiency (FXPOI), Fragile X tremor-ataxia syndrome (FXTAS) and other emerging disorders from which we are continuously learning more about this gene. The chapters of this book provide an update of the different allelic forms of the FMR1 gene. Chapter 1 is a description of the classical Fragile X syndrome including clinical findings in males and females, the FMR1 gene, molecular bases, the FMRP protein, animal models, genetic counseling, newborn screening and diagnosis. Chapters 2 and 3 review the two main disorders associated with FMR1 premutation: FXPOI and FXTAS. FXPOI is a new clinical entity in which carrier premutation (PM) females present early ovarian dysfunction, with menopause occurring 5 years earlier than non-carrier family members. FXTAS is a late-onset inherited neuropsychiatric degenerative disorder that occurs predominantly in male carriers of the FMR1 premutation. Chapters 4 and 5 present the most recent advances in the current knowledge of other disorders associated with the FMR1 gene: Chapter 4 describes the psychopathological alterations of the different phenotypes associated with either premutation or full mutation. Chapter 5 is focused on the pathologies associated with the premutation such as fibromyalgia, thyroid disease and hypertension, among others. A comprehensive review of genetic counseling is done in Chapter 6 including all types of alleles related to the FMR1 gene and point mutations. Finally, although at present there is no treatment for any of these pathologies, an update of the clinical trials on therapies for all these FMR1 gene-related disorders and their current status is made in Chapter 7.

Author : Cecilia Giulivi,Laia Rodriguez-Revenga,Karen Usdin,Rob Willemsen,Renate K. Hukema
Publisher : Frontiers Media SA
Page : 140 pages
File Size : 43,9 Mb
Release : 2021-06-29
Category : Science
ISBN : 9782889669196

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Proceedings of the "Fourth International Conference of FMR1 Premutation: Basic Mechanisms, Clinical Involvement and Therapy" by Cecilia Giulivi,Laia Rodriguez-Revenga,Karen Usdin,Rob Willemsen,Renate K. Hukema Pdf

Author : Clare Dunsford
Publisher : Beacon Press
Page : 230 pages
File Size : 54,5 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.

Author : Randi Jenssen Hagerman,Paul J. Hagerman
Publisher : JHU Press
Page : 562 pages
File Size : 46,6 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.

Author : Randi Jenssen Hagerman
Publisher : Unknown
Page : 481 pages
File Size : 52,5 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

Author : Jacob Peedicayil,Dennis R. Grayson,Dimitri Avramopoulos
Publisher : Academic Press
Page : 848 pages
File Size : 55,7 Mb
Release : 2021-08-21
Category : Science
ISBN : 9780128235782

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Epigenetics in Psychiatry by Jacob Peedicayil,Dennis R. Grayson,Dimitri Avramopoulos Pdf

Epigenetics in Psychiatry, Second Edition covers all major areas of psychiatry in which extensive epigenetic research has been performed, fully encompassing a diverse and maturing field, including drug addiction, bipolar disorder, epidemiology, cognitive disorders, and the uses of putative epigenetic-based psychotropic drugs. Uniquely, each chapter correlates epigenetics with relevant advances across genomics, transcriptomics, and proteomics. The book acts as a catalyst for further research in this growing area of psychiatry. This new edition has been fully revised to address recent advances in epigenetic understanding of psychiatric disorders, evoking data consortia (e.g., CommonMind, ATAC-seq), single cell analysis, and epigenome-wide association studies to empower new research. The book also examines epigenetic effects of the microbiome on psychiatric disorders, and the use of neuroimaging in studying the role of epigenetic mechanisms of gene expression. Ongoing advances in epigenetic therapy are explored in-depth. Fully revised to discuss new areas of research across neuronal stem cells, cognitive disorders, and transgenerational epigenetics in psychiatric disease Relates broad advances in psychiatric epigenetics to a modern understanding of the genome, transcriptome, and proteins Catalyzes knowledge discovery in both basic epigenetic biology and epigenetic targets for drug discovery Provides guidance in research methods and protocols, as well how to employ data from consortia, single cell analysis, and epigenome-wide association studies (EWAS) Features chapter contributions from international leaders in the field