Understanding Fragile X Syndrome
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Understanding Fragile X Syndrome
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Author : Isabel Fernández Carvajal
language : en
Publisher: Jessica Kingsley Publishers
Release Date : 2011-08-15
Understanding Fragile X Syndrome written by Isabel Fernández Carvajal and has been published by Jessica Kingsley Publishers this book supported file pdf, txt, epub, kindle and other format this book has been release on 2011-08-15 with Health & Fitness categories.
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
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Author : John C. Carey
language : en
Publisher: John Wiley & Sons
Release Date : 2021-01-27
Cassidy And Allanson S Management Of Genetic Syndromes written by John C. Carey and has been published by John Wiley & Sons this book supported file pdf, txt, epub, kindle and other format this book has been release on 2021-01-27 with Science categories.
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 Causes Of Epilepsy
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Author : Simon D. Shorvon
language : en
Publisher: Cambridge University Press
Release Date : 2011-04-14
The Causes Of Epilepsy written by Simon D. Shorvon and has been published by Cambridge University Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2011-04-14 with Medical categories.
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
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Author : Rob Willemsen
language : en
Publisher: Academic Press
Release Date : 2017-05-26
Fragile X Syndrome written by Rob Willemsen and has been published by Academic Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2017-05-26 with Science categories.
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. "This fascinating book, edited by Rob Willemsen and Frank Kooy, summarizes the current knowledge of the molecular aspects of fragile X syndrome (FXS), andthe potential for therapies resulting from this knowledge...Particularly interesting is a review "fragile X research from a parental perspective,” which summarizes the results of an international survey of the attitudes of families with FXS relatives towards research.This book is also an essential reference book for genetic counselors...The book provides counselors with the necessary biological background for proper explanations to the relatives of FXS patients. Many parents acquire a substantial knowledge of the conditions afflicting their children. The book will be helpful for both families and counselors to manage the expectations of families participating in clinical trials.In conclusion, this book is essential for everyone who is involved in the diagnosis and treatment of FXS patients.” - European Journal of Human Genetics (September 2018)
Fragile X Syndrome
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Author : Fabrizio Stasolla
language : en
Publisher: Nova Science Publishers
Release Date : 2022
Fragile X Syndrome written by Fabrizio Stasolla and has been published by Nova Science Publishers this book supported file pdf, txt, epub, kindle and other format this book has been release on 2022 with Education categories.
Fragile X syndrome is an inherited disease caused by an excessive length of the FMR protein due to mutations in the FMR1 gene located on the X chromosome. It is commonly described as one of the most common genetic diseases with autism-like behaviours and related developmental disabilities. Beside intellectual delays, behavioural problems, and communication difficulties, mood disorders usually occur. Diagnosis is based on laboratory tests and DNA results. Phenotypes including long and narrow face, large ears, hyper-arched palate, flat feet, ataxia, seizures, anxiety, aggression, and hand-related stereotypic behaviours are frequently observed. Although there is no specific cure, early interventions are highly encouraging, promising, and recommended. Pharmacological treatments may be combined with behavioural and/or cognitive behavioural interventions. Recently, assistive technology-based programs have been implemented. This volume includes seven chapters and addresses the newest advances in the diagnosis and treatment of individuals with Fragile X syndrome. Chapter One encompasses the molecular features and pathological bases of the disease. A comprehensive literature overview was conducted. The role of the FMR protein was emphasized although few studies evaluated its function. Chapter Two deals with the neuropsychiatric symptoms related to the syndrome. A complete conceptual framework was exhaustively detailed. Chapter Three emphasizes the role of pharmacotherapy in the treatment of Fragile X syndrome. A further literature review was carried out. Clinical relevance was outlined. Chapter Four provides the reader with a conceptual analysis. Besides molecular features, brain development was described. Challenging behaviours were included and the importance of the early combined intervention was critically discussed. Chapters Five, Six, and Seven detailed three case reports on the effectiveness and the suitability of assistive technology-based interventions. Specifically, Chapter Five argued for microswitch-cluster technology focused on pursuing the dual simultaneous goal of promoting an adaptive response (i.e., object manipulation) and reducing a challenging behaviour (i.e., hand mouthing). Chapter Six describes a combined microswitch and VOCA program useful to ensure the participant has the choice between independent access to positive stimulation and asking for social interaction. Finally, Chapter Seven includes choice opportunities through an assistive technology-mediated program involving a boy with Fragile X in a functional task. Targeted readers (i.e., caregivers, clinicians, speech therapists, professionals, psychologists, neurologists, parents of children with Fragile X syndrome, teachers) may find interesting and stimulating tips and insights for daily use in clinical research and practice, with the dual objective of diagnosis and treatment.
Educating Children With Fragile X Syndrome
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Author : Denise Dew-Hughes
language : en
Publisher: Routledge
Release Date : 2003-12-16
Educating Children With Fragile X Syndrome written by Denise Dew-Hughes and has been published by Routledge this book supported file pdf, txt, epub, kindle and other format this book has been release on 2003-12-16 with Education categories.
This book provides invaluable information, support and guidance on educating a child with Fragile X, background on the origins of this syndrome, and what the implications are for such a child's teaching and learning.
International Review Of Research In Mental Retardation
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Author :
language : en
Publisher: Academic Press
Release Date : 2003-11-14
International Review Of Research In Mental Retardation written by and has been published by Academic Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2003-11-14 with Psychology categories.
Language and communication problems have long figured prominently in the definition of mental retardation. Volume 27 of the International Review of Research in Mental Retardation focuses exclusively on these language and communication issues. The pace of research on language learning and use in mental retardation has increased in recent years and taken new direction. This revitalization has been fueled by three factors: 1) advances in genetic technologies allowing investigation of the behavioral phenotypes of well-defined syndromes, 2) an increased emphasis on maximizing abilities of individuals with mental retardation to live and succeed in a broader range of contexts and settings, and 3) theoretical debates concerning the mechanisms of language development and the nature of the human mind. Contents in Language and Communication in Mental Retardation include syndromes (e.g., Down syndrome, Williams syndrome), domains of language skill (e.g., reading), and intervention strategies. - Contains the most current research on genetic syndromes, including Williams syndrome, Down syndrome, and fragile X syndrome - Outlines the most current research on language and communication intervention for persons with mental retardation - Authors consider the implications of the research reviewed for both theory and clinical practice - Authors bring state-of-the-art knowledge of cognitive science, developmental science, linguistic, and behavioral genetics to bear on important questions about language and mental retardation - Includes new research on long-studied conditions (e.g., Down syndrome) and disorders that are of only recent interest to child language researchers (e.g., fetal alcohol syndrome) - Includes a consideration of nonverbal, as well as verbal, communication
Mind Matters In Children
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Author : Kenneth Lyen
language : en
Publisher: World Scientific
Release Date : 2022-10-25
Mind Matters In Children written by Kenneth Lyen and has been published by World Scientific this book supported file pdf, txt, epub, kindle and other format this book has been release on 2022-10-25 with Medical categories.
Our mind is one of the most extraordinary wonders of mankind! We use it to think critically and creatively, it stores our treasured memories, it helps us make friends and look after our loved ones, and it can transform our impossible dreams into reality.Sometimes we encounter glitches in our life's journey. The brain may not advance as fast as expected. This book delves into both the normal as well as the abnormal functioning of a child's mind. Topics covered include intelligence, creativity, consciousness, memory and normal development. It also gives practical advice on how to manage children's mental health and problems like ADHD, dyslexia, autism and depression.The book is timely because of the recent surge in interest of the human mind during the Covid-19 pandemic where there has been a dramatic worldwide increase in mental problems brought about by isolation, economic slowdown, unemployment, and loss of our loved ones.This book is suitable for everyone who is fascinated by the human mind.
Assessment And Diagnosis Of Neurodevelopmental Disorders In Young Children
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Author : Neil Nicoll
language : en
Publisher: Routledge
Release Date : 2021-09-16
Assessment And Diagnosis Of Neurodevelopmental Disorders In Young Children written by Neil Nicoll and has been published by Routledge this book supported file pdf, txt, epub, kindle and other format this book has been release on 2021-09-16 with Psychology categories.
This essential guide is a research-based practical handbook for assessing global developmental delay and other neurodevelopmental disorders in young children. It explains diagnostic, support, and treatment services available for children and their families, clarifying psychological and medical terminology, and global legislative and societal factors relating to assessment. Designed as a comprehensive compendium for student and practicing psychologists, it offers an introduction to historical perspectives around child development and developmental disorders, and how these have affected our understanding of neurodevelopmental disorders. It explains professional and ethical considerations surrounding the clinical practice of developmental assessments, and focuses on the crucial importance of understanding and supporting the parental experience of assessment and diagnosis. Key topics covered include: definitions and descriptions of genetic and chromosomal disorders and neurodevelopmental disorders; eligibility criteria for support and assistance; the Griffiths Scales, Bayley Scales, and other notable assessments for young children; autism spectrum disorder; the process of assessment and diagnosis, diagnostic tools, and report writing. Including a chapter of illustrative case studies of children with developmental disorders, this book will be essential reading for educational, clinical, and developmental psychologists working with children and their families, as well as post-graduate students training in the field.
Advances In X Linked Mental Retardation Research And Treatment 2012 Edition
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Author :
language : en
Publisher: ScholarlyEditions
Release Date : 2012-12-26
Advances In X Linked Mental Retardation Research And Treatment 2012 Edition written by and has been published by ScholarlyEditions this book supported file pdf, txt, epub, kindle and other format this book has been release on 2012-12-26 with Medical categories.
Advances in X-Linked Mental Retardation Research and Treatment / 2012 Edition is a ScholarlyBrief™ that delivers timely, authoritative, comprehensive, and specialized information about X-Linked Mental Retardation in a concise format. The editors have built Advances in X-Linked Mental Retardation Research and Treatment / 2012 Edition on the vast information databases of ScholarlyNews.™ You can expect the information about X-Linked Mental Retardation in this eBook to be deeper than what you can access anywhere else, as well as consistently reliable, authoritative, informed, and relevant. The content of Advances in X-Linked Mental Retardation Research and Treatment / 2012 Edition has been produced by the world’s leading scientists, engineers, analysts, research institutions, and companies. All of the content is from peer-reviewed sources, and all of it is written, assembled, and edited by the editors at ScholarlyEditions™ and available exclusively from us. You now have a source you can cite with authority, confidence, and credibility. More information is available at http://www.ScholarlyEditions.com/.