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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
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.
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.
The contributions provide in-depth analyses of a broad range of neurodevelopmentaldisorders, including those resulting from whole chromosome defects (Down and Turner syndromes),those related to defects in a single gene (fragile-X syndrome) or a small number of genes (Williamssyndrome), and complex genetic disorders (dyslexia, autism).
Fragile X syndrome (FXS) is one of the most common forms of intellectual and developmental disabilities, as well as the most widely inherited intellectual disability, which has a tremendous impact on the family. FXS is, apart from Down syndrome, the most common form of an intellectual and developmental disability. The literature indicates that one in 2 500 to 4 000 females and one in 4 000 to 6000 females are affected by FXS. These numbers indicate that one in 260 females has the full-mutation gene, while one in 300 to 800 males has the premutation gene. Studies show that little research and resources with regard to FXS are available internationally, especially in South Africa. Parents are often plagued by feelings of guilt as they are the carriers of the FMR1 gene that causes FXS. The mother is particularly affected, as she is often the main caregiver, as well the one who carried the FMR1 gene to her child. However, both parents suffer because they experience profound emotions such as the loss of their dreams for their child. These families are also socially isolated, as the extended family and friends often neither understand, nor accept the behaviour of a child with FXS. These children present with behavioural, emotional and physical difficulties. Some of the behaviour difficulties are hand-flapping, hand-biting, anxiety, tantrums and aggression. Furthermore, these children experience emotional difficulties, such as extreme shyness and feelings of rejection. They very often do not know how to deal with their emotions. These children also present with physical manifestations, such as prominent ears, long faces and double-jointedness. The marital relationship of the parents is affected, as they have to take care of a child with an intellectual disability and this often puts a lot of strain on the marriage. The siblings tend to feel rejected and neglected. As the extended family is also supposed to go for genetic counselling, denial and subsequent avoidance of social contact with the affected family are often experienced. Situated within an interpretivist paradigm, this study followed a qualitative approach and employed a multiple case study design. Three experts on FXS were purposively selected to participate in the study based on their knowledge and experience with families affected by FXS. The data were collected through interviews and a narrative. The findings indicate that in order for families to deal with the various challenges that FXS presents, support is needed from society, family and friends. The recommendations include that more awareness needs to be created about FXS. The empirical analysis in this study revealed that FXS has a severe impact on family relations.

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