Growing Up With Fragile X Syndrome PDF Download
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| Author | : Robyn R. Iredale |
| Publisher | : |
| Total Pages | : 198 |
| Release | : 2011 |
| Genre | : Biography & Autobiography |
| ISBN | : 9781921787683 |
Download Growing Up with Fragile X Syndrome Book in PDF, ePub and Kindle
This book is both for and about Marty Campbell. Marty has a genetic condition known as Fragile X Syndrome that has been passed down through our family. FX syndrome is the most common cause of intellectual disability and yet it was not identified until 1969. In 2010, it was estimated that between 45,284 and 125,337 people in Australia had a full mutation or carried the FX syndrome (pre-mutation). It is known to be present in most societies though the prevalence rates vary considerably. The book provides a flavour of some of the difficulties faced by Marty and his whole family, as well as the joys and achievements. It is written by his mother and traces the story of his birth and early childhood years, going to school and finding work and his gradual evolution into a semi-independent adult. Woven into this are the experiences of some of the people living or associated with Marty and research findings from Australia/NZ and US surveys. Ultimately, it is a story about how a young man grappled with many of the obstacles placed in his way and about those who have helped him (or hindered him) along his journey. Marty has done incredibly well but he still has his ups and downs and most days present some sort of challenge to be dealt with. Being the subject of a book is yet another of his great achievements as this was his idea. It will provide families with children with disabilities with optimism and hope for how things can be improved and help to reassure them that they are not alone. It is a must read for professionals, especially those working in the health and education fields, so that they better understand their FX clients.
| Author | : Denise Dew-Hughes |
| Publisher | : Routledge |
| Total Pages | : 272 |
| Release | : 2003-12-16 |
| Genre | : Education |
| ISBN | : 1134378106 |
Download Educating Children with Fragile X Syndrome Book in PDF, ePub and Kindle
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 | : Kay E. Davies |
| Publisher | : Oxford University Press, USA |
| Total Pages | : 150 |
| Release | : 1989 |
| Genre | : Language Arts & Disciplines |
| ISBN | : |
Download The Fragile X Syndrome Book in PDF, ePub and Kindle
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 | : Elizabeth Griffin |
| Publisher | : YWAM Publishing |
| Total Pages | : 116 |
| Release | : 2004 |
| Genre | : Family & Relationships |
| ISBN | : 9781932096163 |
Download Fragile X, Fragile Hope Book in PDF, ePub and Kindle
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 | : Randi Jenssen Hagerman |
| Publisher | : |
| Total Pages | : 481 |
| Release | : 1996 |
| Genre | : Fragile X syndrome |
| ISBN | : 9780801853883 |
Download Fragile X Syndrome Book in PDF, ePub and Kindle
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 |
| Total Pages | : 1104 |
| Release | : 2021-01-27 |
| Genre | : Science |
| ISBN | : 1119432677 |
Download Cassidy and Allanson's Management of Genetic Syndromes Book in PDF, ePub and Kindle
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 | : Jayne Dixon Weber |
| Publisher | : |
| Total Pages | : 0 |
| Release | : 2000 |
| Genre | : Family & Relationships |
| ISBN | : 9780933149779 |
Download Children with Fragile X Syndrome Book in PDF, ePub and Kindle
Fragile X syndrome is believed to be the most common genetic cause of mental retardation, even more common than Down syndrome. It can result in a wide range of developmental delays, learning disabilities, and physical characteristics -- which all tend to be more pronounced in boys than in girls. At last, there is a comprehensive book on fragile X syndrome for parents. The first and only book of its kind, this book provides a complete, sensitive introduction to fragile X syndrome, an inherited, genetic condition caused by a mutation on the X-chromosome. This new guide is written by an experienced, caring group of parents, doctors, therapists, and teachers, who offer an in-depth look at the issues and concerns affecting children and their families.
| Author | : Clare Dunsford |
| Publisher | : Beacon Press |
| Total Pages | : 230 |
| Release | : 2007 |
| Genre | : Biography & Autobiography |
| ISBN | : 9780807072790 |
Download Spelling Love with an X Book in PDF, ePub and Kindle
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 | : Simon Shorvon |
| Publisher | : Cambridge University Press |
| Total Pages | : 1013 |
| Release | : 2019-05-02 |
| Genre | : Medical |
| ISBN | : 1108420753 |
Download The Causes of Epilepsy Book in PDF, ePub and Kindle
Expanded and revised, this unique book provides concise descriptions of the many causes of epilepsy, for use in clinical practice.
| Author | : Carlo Sala |
| Publisher | : Academic Press |
| Total Pages | : 396 |
| Release | : 2016-04-30 |
| Genre | : Medical |
| ISBN | : 0128005335 |
Download Neuronal and Synaptic Dysfunction in Autism Spectrum Disorder and Intellectual Disability Book in PDF, ePub and Kindle
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
