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Fragile X Syndrome

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New Research on Fragile X Syndrome

New Research on Fragile X Syndrome Book
Author : Jeffrey J. Upner
Publisher : Nova Publishers
Release : 2007
ISBN : 9781600212819
Language : En, Es, Fr & De

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Book Description :

Download New Research on Fragile X Syndrome book written by Jeffrey J. Upner, available in PDF, EPUB, and Kindle, or read full book online anywhere and anytime. Compatible with any devices.

Supporting Children with Fragile X Syndrome

Supporting Children with Fragile X Syndrome Book
Author : Hull Learning Services
Publisher : Routledge
Release : 2014-07-10
ISBN : 1134021860
Language : En, Es, Fr & De

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Book Description :

Off-the-shelf support containing all the vital information practitioners need to know about Fragile X Syndrome, this book includes: * Definition of Fragile X Syndrome and its educational implications * Ideas on how to improve access to the curriculum * Advice on how to manage support staff * Guidance on coordinating home and school liaison

The Fragile X Syndrome

The Fragile X Syndrome Book
Author : Randi Jenssen Hagerman,Pamela McKenzie McBogg
Publisher : Unknown
Release : 1983
ISBN : 9780915667000
Language : En, Es, Fr & De

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Book Description :

Download The Fragile X Syndrome book written by Randi Jenssen Hagerman,Pamela McKenzie McBogg, available in PDF, EPUB, and Kindle, or read full book online anywhere and anytime. Compatible with any devices.

Fragile X Syndrome

Fragile X Syndrome Book
Author : Randi Jenssen Hagerman
Publisher : Unknown
Release : 1996
ISBN : 9780801853883
Language : En, Es, Fr & De

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Book Description :

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

Fragile X Syndrome New Insights for the Healthcare Professional 2011 Edition

Fragile X Syndrome  New Insights for the Healthcare Professional  2011 Edition Book
Author : Anonim
Publisher : ScholarlyEditions
Release : 2012-01-09
ISBN : 1464907501
Language : En, Es, Fr & De

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Book Description :

Fragile X Syndrome: New Insights for the Healthcare Professional: 2011 Edition is a ScholarlyPaper™ that delivers timely, authoritative, and intensively focused information about Fragile X Syndrome in a compact format. The editors have built Fragile X Syndrome: New Insights for the Healthcare Professional: 2011 Edition on the vast information databases of ScholarlyNews.™ You can expect the information about Fragile X Syndrome 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 Fragile X Syndrome: New Insights for the Healthcare Professional: 2011 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/.

The Source for Fragile X Syndrome

The Source for Fragile X Syndrome Book
Author : Gail Harris-Schmidt,Dale Eugene Fast
Publisher : Unknown
Release : 2004
ISBN : 0987650XXX
Language : En, Es, Fr & De

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Book Description :

Download The Source for Fragile X Syndrome book written by Gail Harris-Schmidt,Dale Eugene Fast, available in PDF, EPUB, and Kindle, or read full book online anywhere and anytime. Compatible with any devices.

Behavior and Development in Fragile X Syndrome

Behavior and Development in Fragile X Syndrome Book
Author : Elisabeth Dykens,Robert M. Hodapp,James F. Leckman
Publisher : SAGE Publications, Incorporated
Release : 1994
ISBN : 0987650XXX
Language : En, Es, Fr & De

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Book Description :

Fragile X Syndrome is estimated to cause 10 per cent of all mental retardation and to be significantly linked to childhood autism. This volume provides a coherent, comprehensive overview of the disorder. The authors are leaders in the field and their approaches span the range of biological and psychological perspectives. The prevalence and historical roots of the Syndrome are examined, as are the wide range of symptomatic behaviours. Recommendations for intervention and treatment are discussed and current scientific findings are presented in a way that makes them accessible to a wide range of readers, including clinicians, teachers and parents.

Fragile X Syndrome

Fragile X Syndrome Book
Author : Dalit Ben-Yosef,Yoav Mayshar
Publisher : Unknown
Release : 2019
ISBN : 9781493990801
Language : En, Es, Fr & De

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Book Description :

Download Fragile X Syndrome book written by Dalit Ben-Yosef,Yoav Mayshar, available in PDF, EPUB, and Kindle, or read full book online anywhere and anytime. Compatible with any devices.

Autism Profiles of Young Males with Fragile X Syndrome

Autism Profiles of Young Males with Fragile X Syndrome Book
Author : Susan Wood Harris
Publisher : Unknown
Release : 2008
ISBN : 0987650XXX
Language : En, Es, Fr & De

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Book Description :

Download Autism Profiles of Young Males with Fragile X Syndrome book written by Susan Wood Harris, available in PDF, EPUB, and Kindle, or read full book online anywhere and anytime. Compatible with any devices.

What is Fragile X Syndrome

What is Fragile X Syndrome  Book
Author : Melanie J. Richardson
Publisher : Unknown
Release : 2003
ISBN : 0987650XXX
Language : En, Es, Fr & De

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Book Description :

Download What is Fragile X Syndrome book written by Melanie J. Richardson, available in PDF, EPUB, and Kindle, or read full book online anywhere and anytime. Compatible with any devices.

Visual and Psychosocial Disorders of Fragile X Syndrome

Visual and Psychosocial Disorders of Fragile X Syndrome Book
Author : Qudratullah Mohammed
Publisher : Unknown
Release : 2017
ISBN : 0987650XXX
Language : En, Es, Fr & De

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Book Description :

The understanding of mental disability could help optometrists better examine their patients. The literature review is going to focus on the disease called Fragile X Syndrome, especially the detrimental impact on vision and vision processing. FXS is due to the absence of FXMRP, which leads to transcriptional silencing and neuronal dendrite immaturity. The PCR and Southern blot testing were found to be the most definitive way of diagnosing FXS. The ERG response is essential in understanding the poor vision in FXS cases as both the a- and b-waves amplitude are decreased and it is due to decrease in rhodopsin concentration in FXS. The electron microscopy testing of the photoreceptor outer segment showed disorganized and reduced disk density. The lateral geniculate nucleus consists of the Magnocellular layers and Parvo-cellular layer, which showed that in FXS the magnocellular layers, suffers more due to low levels of FMRP and the FXS patients showed atypical LGN structure.

The Effect of Fragile X Syndrome on Family Relations

The Effect of Fragile X Syndrome on Family Relations Book
Author : Melissa Pienaar
Publisher : Unknown
Release : 2018
ISBN : 0987650XXX
Language : En, Es, Fr & De

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Book Description :

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.

Every Life Has Value Fragile X Syndrome Awareness

Every Life Has Value Fragile X Syndrome Awareness Book
Author : Eyasin Ali
Publisher : Unknown
Release : 2019-10-13
ISBN : 9781699571507
Language : En, Es, Fr & De

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Book Description :

This beautiful Notebook For Women and Men To Write In and inspirational gift idea for Fragile X Syndrome Awareness patients and survivors to write down their Fragile X Syndrome Journey or to keep track of doctor's appointments, treatment. Writing is a great stress reliever, as well as a way to cope with your thoughts, feelings, and fears about Fragile X Syndrome. It will also give survivors a chance to look back on their journey and recall their fight. This journal will give patients motivation to keep going, never give up and never lose hope or faith. This blank lined notebook is a perfect gift for that special person battling Fragile X Syndrome. July is Fragile X Syndrome Awareness Month

Advances in X Linked Mental Retardation Research and Treatment 2013 Edition

Advances in X Linked Mental Retardation Research and Treatment  2013 Edition Book
Author : Anonim
Publisher : ScholarlyEditions
Release : 2013-06-21
ISBN : 148169667X
Language : En, Es, Fr & De

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Book Description :

Advances in X-Linked Mental Retardation Research and Treatment: 2013 Edition is a ScholarlyPaper™ that delivers timely, authoritative, and intensively focused information about ZZZAdditional Research in a compact format. The editors have built Advances in X-Linked Mental Retardation Research and Treatment: 2013 Edition on the vast information databases of ScholarlyNews.™ You can expect the information about ZZZAdditional Research in this book 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: 2013 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/.

Fragile X Syndrome

Fragile X Syndrome Book
Author : Anonim
Publisher : Unknown
Release : 1995
ISBN : 0987650XXX
Language : En, Es, Fr & De

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Book Description :

Download Fragile X Syndrome book written by , available in PDF, EPUB, and Kindle, or read full book online anywhere and anytime. Compatible with any devices.

Towards Mechanism based Treatments for Fragile X Syndrome

Towards Mechanism based Treatments for Fragile X Syndrome Book
Author : Inbal Gazy,Daman Kumari
Publisher : Unknown
Release : 2019
ISBN : 9783039215065
Language : En, Es, Fr & De

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Book Description :

It has been more than 25 years since the identification of the FMR1 gene and the demonstration of the causative role of CGG-repeat expansion in the disease pathology of fragile X syndrome (FXS), but the underlying mechanisms involved in the expansion mutation and the resulting gene silencing still remain elusive. Our understanding of the pathways impacted by the loss of FMRP function has grown tremendously, and has opened new avenues for targeted treatments for FXS. However, the failure of recent clinical trials that were based on successful preclinical studies using the Fmr1 knockout mouse model has forced the scientific community to revisit clinical trial design and identify objective outcome measures. There has also been a renewed interest in restoring FMR1 gene expression as a possible treatment approach for FXS. This special issue of Brain Sciences highlights the progress that has been made towards understanding the disease mechanisms and how this has informed the development of treatment strategies that are being explored for FXS.

Understanding Fragile X Syndrome

Understanding Fragile X Syndrome Book
Author : Isabel Fernández Carvajal,David Aldridge
Publisher : Jessica Kingsley Publishers
Release : 2011-08-15
ISBN : 9780857004376
Language : En, Es, Fr & De

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Book Description :

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.

Impaired Attention Shifting in Young Children with Fragile X Syndrome

Impaired Attention Shifting in Young Children with Fragile X Syndrome Book
Author : Mariya Chernenok
Publisher : Unknown
Release : 2018
ISBN : 9780438932036
Language : En, Es, Fr & De

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Book Description :

Fragile X syndrome (FXS) is a genetic disorder caused by a trinucleotide CGG expansion within the FMR1 gene located on the X chromosome. Children with FXS have been shown to be impaired in dynamic visual attention processing—a perceptual ability that requires disengagement of attention from one stimulus to fixate on a second. The present study investigated visual orienting in young children with FXS, compared to mental- and chronological-age matched typically developing (TD) children using infrared eye tracking. Visual orienting was assessed using a gap-overlap task. On gap trials, the central stimulus disappeared before the peripheral target appeared, and on overlap trials, the central stimulus remained present when the peripheral target appeared. A gap effect emerges when latencies to shift to the peripheral target are longer in overlap conditions, reflecting the recruitment of cortical disengagement mechanisms. Latency to first fixate to the peripheral target was measured. Results show the expected gap effect in both TD groups: participants were slower to orient to peripheral targets on overlap trials than on gap trials in both the chronological and mental age-matched groups. In contrast, there was no significant gap effect in the FXS group, indicating that children with FXS shift attention to the peripheral target at the same speed regardless of the presence or absence of a central stimulus. These finding suggest disrupted attentional engagement patterns in FXS that may be underlying impairments in attention shifting, and suggest potential targets for attention training in this population.

Fragile X Syndrome

Fragile X Syndrome Book
Author : Rob Willemsen,Frank Kooy
Publisher : Academic Press
Release : 2017-05-26
ISBN : 0128045078
Language : En, Es, Fr & De

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Book Description :

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