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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.
Introduction.-Probing Astrocyte Function in Fragile X Syndrome.- Neural Stem Cells.- Fragile X Mental Retardation Protein (FMRP) and the Spinal Sensory System.– The Role of the Postsynaptic Density in the Pathology of the Fragile X Syndrome.- Behavior in a Drosophila model of Fragile X.- Molecular and Genetic Analysis of the Drosophila Model of Fragile X Syndrome.- Fragile X Mental Retardation Protein and Stem Cells.- Manipulating the Fragile X Mental Retardation Proteins in the Frog.- Exploring the Zebra finch Taeniopygia gutta as a Novel Animal Model for the Speech-language Deficit of Fragile X Syndrome.- Neuroendocrine Alterations in the Fragile X Mouse.- Taking STEPs forward to understanding Fragile X Syndrome.- Fmr-1 as an Offspring Genetic and a Maternal Environmental Factor in Neurodevelopmental Disease.- Mouse Models of the Fragile X Premutation and the Fragile X Associated Tremor/Ataxia Syndrome.- Clinical Aspects of the Fragile X Syndrome.- Fragile X Syndrome: A Psychiatric Perspective.- Fragile X Syndrome and Targeted Treatment Trials.- The Fragile X-associate Tremor Ataxia Syndrome.- Vignettes: Models in Absentia.
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
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.
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.
Down Syndrome and Fragile X Syndrome are disorders of mental retardation that are characterized by cognitive impairments and changes to other physical characteristics. A goal in the study of these diseases has been to understand the mechanisms that underlie the cognitive impairments present in these two disorders of mental retardation. A great deal of effort has been made to study synaptic function and structure in these disorders of mental retardation in order to determine whether there are any alterations present. Alterations to synaptic structure and function present during these disorders may give insight to the neural basis of the cognitive impairments that are characteristic of this disorder of mental retardation. An area of the brain that may be affected by these disorders is the hippocampus. This area of the brain has been extensively studied for its role in memory and alterations to synaptic function and structure may underlie some of the memory deficits present in these disorders of mental retardation. Both Down Syndrome patients and Fragile X Syndrome patients have deficits in their performance on memory tests. Down Syndrome patients also have a reduction in the number of neurons present in the hippocampus (Carlesimo et al., 1997). Fragile X Syndrome patients had structural abnormalities in the hippocampus including an enlargement of ventricular spaces (Jakala et al., 1997). Synaptic function and structure in the hippocampus of mouse models of Down Syndrome and Fragile X Syndrome were studied in order to determine this region of the brain was affected. Electrophysiology recordings in area CA3 of the hippocampus of the Ts65Dn Down Syndrome mouse model indicated there were disruptions to synaptic connectivity, decreases in excitatory and inhibitory synaptic transmission, and also a reduction in intrinsic interneuron activity. Imaging studies of CA3 in the Ts65Dn mouse did not show alterations to the number of synapses or structure of synapses suggesting that the alterations found with electrophysiology recordings are the result of functional changes to synapses. Electrophysiology study of the hippocampus in mouse models of Fragile X Syndrome has shown that inhibitory function was generally intact but that excitatory axons from neurons that lacked the Fragile X Mental Retardation Protein (FMRP) were less competitive at forming synapses in a mosaic expression system of the Fmr1 gene the lack of which causes the disease. These studies indicate that alterations to synaptic structure and function are present in the hippocampus of these mouse models of mental retardation. The differences however, were not the same in Down Syndrome and Fragile X Syndrome mouse models. Nonetheless, it is possible that the changes to synaptic function found in both of these mouse models leads to altered network function in the hippocampus which may, in turn, be the underlying cause of the memory deficits present in these disorders of mental retardation. The data presented in these studies indicate that the study of these mouse models of mental retardation can give insight to alterations caused by these disorders of mental retardation which may also lead to the development of new treatments.
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/.