Rett Syndrome Rtt
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Rett Syndrome Rtt
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Author : Fabrizio Stasolla
language : en
Publisher: Nova Science Publishers
Release Date : 2021
Rett Syndrome Rtt 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 2021 with Rett syndrome categories.
"Rett syndrome, a rare genetic disease caused by mutations of the MECP2 gene, includes severe to profound developmental impairments. Communicative, intellectual, and motor disabilities are usually embedded. Children with Rett syndrome are individuals with multiple difficulties. Caregivers, families and professionals face to serious daily challenges due to clinical conditions determined by Rett syndrome. Accordingly, traditional interventions may not be adequate. Customized programs based on cognitive-behavioral approaches and assistive technology setups are highly warranted. The current book includes the newest empirical contributions to tackle functional consequences of Rett syndrome. Sleep and pain disorders were targeted in Chapter One. A cross-disciplinary investigation to enhance active participation and constructive engagement of children with Rett syndrome was detailed in Chapter Two. The importance of functional activities was emphasized in Chapter Three. Communication guidelines to support communication skills of individuals with Rett syndrome were critically discussed in Chapter Four. The relevance of music and music therapy to promote positive participation was argued in Chapter Five. A selective review on the use of assistive technology-based programs in individuals with Rett syndrome was provided in Chapter Six. A case report to help locomotion fluency of an adolescent with Rett syndrome through the use of microswitches and contingent positive stimulation was presented in Chapter Seven. The book was supported by illustrative examples described by the chapters' contributors and their professional experience. Readers may find helpful insights within each edited chapter. Caregivers, families, and professionals may have a practical guide to everyday settings and environments or contexts. Clarity and readability for a large audience are undoubtedly strengths and advantages of the current volume. Although technical terminology was used throughout, both future research and practice can widely find meaningful tips and tangible suggestions to tackle daily barriers and/or obstacles in individuals with Rett syndrome and severe to profound developmental delays"--
Understanding Rett Syndrome
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Author : Rosa Angela Fabio
language : en
Publisher: Routledge
Release Date : 2019-08-23
Understanding Rett Syndrome written by Rosa Angela Fabio and has been published by Routledge this book supported file pdf, txt, epub, kindle and other format this book has been release on 2019-08-23 with Psychology categories.
Understanding Rett Syndrome offers a concise, evidence-based introduction to Rett Syndrome (RTT), covering a range of topics from diagnosis and causes to treatment and family management. It focuses on improving the quality of life for those with the syndrome by suggesting practical ways of managing the condition at home and at school, offering support and guidance to all parents and caregivers learning how to help children with RTT. Over the course of six chapters, Fabio, Caprì and, Martino explore signs and symptoms of RTT, along with an overview of treatment, therapy, and interventions for those living with the condition, focusing on technological aids such as eye-tracking and ICT and new neural techniques. Illustrated with interviews with parents of children living with RTT, Understanding Rett Syndrome is essential reading for parents and caregivers, as well as practitioners in clinical and educational psychology, counseling, mental health, nursing, child welfare, public healthcare, and those in education.
Rett Syndrome New Insights For The Healthcare Professional 2011 Edition
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Author :
language : en
Publisher: ScholarlyEditions
Release Date : 2012-01-09
Rett Syndrome New Insights For The Healthcare Professional 2011 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 2012-01-09 with Medical categories.
Rett Syndrome: New Insights for the Healthcare Professional: 2011 Edition is a ScholarlyBrief™ that delivers timely, authoritative, comprehensive, and specialized information about Rett Syndrome in a concise format. The editors have built Rett Syndrome: New Insights for the Healthcare Professional: 2011 Edition on the vast information databases of ScholarlyNews.™ You can expect the information about Rett 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 Rett 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/.
On The Mechanisms Governing Rett Syndrome Severity
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Author : Jonathan Merritt
language : en
Publisher:
Release Date : 2020
On The Mechanisms Governing Rett Syndrome Severity written by Jonathan Merritt and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 2020 with categories.
Rett syndrome (RTT) is a severe neurodevelopmental disorder primarily caused by mutations in Methyl-CpG Binding Protein 2 (MECP2). While defined clinical features are present in all cases, a spectrum of disease severity exists across individuals with RTT. The work presented here seeks to increase understanding of the mechanisms governing phenotypic severity in RTT and the implications these factors hold for potential therapeutic interventions. These efforts are broadly divided between two investigations. The first centers upon a dissection of the underlying causes of variation in phenotypic severity amongst common RTT causing nonsense mutations in MECP2. Included in this investigation is an assessment of nonsense suppression therapy viability in a novel mouse model of the common R294X mutation. The second study explores the contribution of individual genetic variation to clinical severity in people with RTT. To identify genetic modifiers of RTT severity, we performed exome sequencing on affected individuals from both ends of a clinical severity distribution. Subsequent analysis revealed variants in cholesterol and terpenoid synthesis related genes are associated with phenotypic severity in RTT.
Advancing Treatment And Understanding Of Rett Syndrome
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Author : Samantha Lynn Powers
language : en
Publisher:
Release Date : 2020
Advancing Treatment And Understanding Of Rett Syndrome written by Samantha Lynn Powers and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 2020 with Nervous system categories.
Rett syndrome (RTT) is an X linked neurodevelopmental disorder affecting approximately 1 in 10,000 girls. Patients exhibit a loss of established developmental milestones and progressive loss of motor function with most adult patients requiring 24/7 supportive care. Cellular pathology is characterized by global compaction of neural somas with shortened and fewer neurites. Most RTT cases result from loss of function mutations in methyl-CpG binding protein 2 (MeCP2), a ubiquitous transcription factor highly enriched in the central nervous system (CNS) with regulatory functions for thousands of genes. While loss of MeCP2 function is pathological, causing RTT, overexpression of MeCP2 is also pathological, causing MeCP2 duplication syndrome (MDS), a disease phenotypically similar to RTT. MeCP2 is an epigenetic reader, binding many of the 5-methylcytosine residues in the CNS, and recruiting histone deacetylases to remodel chromatin. MeCP2 interacts with a variety of co-factors including NCoR/SMRT, altering gene expression through a variety of mechanisms which have not been fully elucidated. We have developed an Adeno-associated virus serotype 9 (AAV9) vector expressing human MeCP2 cDNA under the control of a synthetic promoter. We have performed extensive dosing safety and efficacy studies with this vector, demonstrating efficacy ameliorating phenotypes in two mouse model of the disease and safety in their wild type cohorts and non-human primates. Our vector holds great promise for translation to the clinic. It is clinically apparent that variation in X chromosome activation status as well as MeCP2 mutation lead to differences in disease severity for RTT patients. However, little research has been done on the impact of remaining misfolded or truncated MeCP2 isoforms on RTT pathology or treatment response. In order to further investigate the role of various MeCP2 mutations on RTT pathology and treatment response, we developed a novel in vitro modeling system utilizing induced neural progenitor cells (iNPCs) directly converted from RTT fibroblasts. The direct conversion model is particularly well suited for the study of Rett syndrome because of greater speed, and ability to generate cell lines from a mixture of cells containing active and inactive mutant X chromosomes (rather than isogenic clonal populations) when compared with cells reprogrammed via induced pluripotency. With our modeling system, we have investigated the non-cell autonomous role of astrocytes in RTT through a high throughput co-culture with mouse GFP positive neurons and via microarray gene expression analysis and global DNA methylation array. We have shown that RTT astrocytes have a mutation dependent effect on mouse neuron morphology, producing hallmark RTT phenotypes including shortened and fewer neurites. Furthermore, these mutation dependent phenotypes have a basis in differential gene expression and methylation profiles. We successfully transduced our cells with AAV9 vectors in vitro with a robust expression pattern. We have identified several highly differentially expressed genes which may act as targets for drug development and markers of global RTT disease state or as markers of mutation dependent differences in severity. Our high throughput system will also allow for the modeling of drugs and gene therapy, including ours, in a high throughput, patient and mutation specific manner.
Pediatric Neurology Part I
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Author : Nadia Bahi-Buisson
language : en
Publisher: Elsevier Inc. Chapters
Release Date : 2013-04-24
Pediatric Neurology Part I written by Nadia Bahi-Buisson and has been published by Elsevier Inc. Chapters this book supported file pdf, txt, epub, kindle and other format this book has been release on 2013-04-24 with Medical categories.
Rett syndrome (RTT) is a severe neurodevelopmental disorder primarily affecting females that has an incidence of 1:10000 female births, one of the most common genetic causes of severe mental retardation in females. Development is apparently normal for the first 6–18 months until fine and gross motor skills and social interaction are lost, and stereotypic hand movements develop. Progression and severity of the classical form of RTT are most variable, and there are a number of atypical variants, including congenital, early onset seizure, preserved speech variant, and “forme fruste.” Mutations in the X-linked gene methyl-CpG-binding protein 2 (MECP2) involve most of the classical RTT patients. Mutations in cyclin-dependent kinase like 5 (CDKL5) and FoxG1 genes have been identified in the early onset seizure and the congenital variants respectively. Management of RTT is mainly symptomatic and individualized. It focuses on optimizing each patient's abilities. A dynamic multidisciplinary approach is most effective, with specific attention given to epileptic and nonepileptic paroxysmal events, as well as scoliosis, osteoporosis, and the development of spasticity, which can have a major impact on mobility, and to the development of effective communication strategies for these severely disabled individuals.
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.
Rett Syndrome New Insights For The Healthcare Professional 2012 Edition
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Author :
language : en
Publisher: ScholarlyEditions
Release Date : 2012-12-10
Rett Syndrome New Insights For The Healthcare Professional 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 2012-12-10 with Medical categories.
Rett Syndrome: New Insights for the Healthcare Professional / 2012 Edition is a ScholarlyBrief™ that delivers timely, authoritative, comprehensive, and specialized information about Rett Syndrome in a concise format. The editors have built Rett Syndrome: New Insights for the Healthcare Professional / 2012 Edition on the vast information databases of ScholarlyNews.™ You can expect the information about Rett 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 Rett Syndrome: New Insights for the Healthcare Professional / 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/.
Rett Syndrome And Beyond
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Author : Sara Anne Hammer
language : en
Publisher:
Release Date : 2002
Rett Syndrome And Beyond written by Sara Anne Hammer and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 2002 with categories.
Rett Syndrome New Insights For The Healthcare Professional 2013 Edition
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Author :
language : en
Publisher: ScholarlyEditions
Release Date : 2013-07-22
Rett Syndrome New Insights For The Healthcare Professional 2013 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 2013-07-22 with Medical categories.
Rett Syndrome: New Insights for the Healthcare Professional: 2013 Edition is a ScholarlyPaper™ that delivers timely, authoritative, and intensively focused information about Additional Research in a compact format. The editors have built Rett Syndrome: New Insights for the Healthcare Professional: 2013 Edition on the vast information databases of ScholarlyNews.™ You can expect the information about Additional 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 Rett Syndrome: New Insights for the Healthcare Professional: 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/.