Understanding Rett Syndrome PDF Download
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Author: Barbro Lindberg
Publisher: Hogrefe Publishing
ISBN:
Category : Medical
Languages : en
Pages : 218
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Book Description
Barbro Lindberg describes the difficulties and challenges of girls and women with Rett Syndrome and proposes solutions that can help them in everyday life.
Author: Barbro Lindberg
Publisher: Hogrefe Publishing
ISBN:
Category : Medical
Languages : en
Pages : 218
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Book Description
Barbro Lindberg describes the difficulties and challenges of girls and women with Rett Syndrome and proposes solutions that can help them in everyday life.
Author: Carlo Sala
Publisher: Academic Press
ISBN: 0128005335
Category : Medical
Languages : en
Pages : 396
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Book Description
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
Author: Kathy Hunter
Publisher:
ISBN: 9780977064403
Category : Children with mental disabilities
Languages : en
Pages : 577
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Book Description
Everything you ever wanted to know about Rett Syndrome and more from the best experts.
Author: John C. Carey
Publisher: John Wiley & Sons
ISBN: 1119432677
Category : Science
Languages : en
Pages : 1104
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Book Description
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: Juan M. Pascual
Publisher: Cambridge University Press
ISBN: 1107042054
Category : Medical
Languages : en
Pages : 507
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Book Description
A review of childhood neurodegenerative and other progressive but non-degenerative disorders to guide their diagnosis and management.
Author: Debbie Wilson
Publisher: Routledge
ISBN: 1134101732
Category : Education
Languages : en
Pages : 123
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Book Description
First Published in 1998. Parents and teachers of girls with Rett Syndrome will welcome this book which offers accessible advice on the special educational needs of these girls. It will assist teachers in developing a working knowledge of the syndrome and suggests particular strategies in planning a curriculum which may overcome the specific difficulties within the diagnosis.
Author: Jacob Peedicayil
Publisher: Academic Press
ISBN: 0128235780
Category : Science
Languages : en
Pages : 848
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Book Description
Epigenetics in Psychiatry, Second Edition covers all major areas of psychiatry in which extensive epigenetic research has been performed, fully encompassing a diverse and maturing field, including drug addiction, bipolar disorder, epidemiology, cognitive disorders, and the uses of putative epigenetic-based psychotropic drugs. Uniquely, each chapter correlates epigenetics with relevant advances across genomics, transcriptomics, and proteomics. The book acts as a catalyst for further research in this growing area of psychiatry. This new edition has been fully revised to address recent advances in epigenetic understanding of psychiatric disorders, evoking data consortia (e.g., CommonMind, ATAC-seq), single cell analysis, and epigenome-wide association studies to empower new research. The book also examines epigenetic effects of the microbiome on psychiatric disorders, and the use of neuroimaging in studying the role of epigenetic mechanisms of gene expression. Ongoing advances in epigenetic therapy are explored in-depth. - Fully revised to discuss new areas of research across neuronal stem cells, cognitive disorders, and transgenerational epigenetics in psychiatric disease - Relates broad advances in psychiatric epigenetics to a modern understanding of the genome, transcriptome, and proteins - Catalyzes knowledge discovery in both basic epigenetic biology and epigenetic targets for drug discovery - Provides guidance in research methods and protocols, as well how to employ data from consortia, single cell analysis, and epigenome-wide association studies (EWAS) - Features chapter contributions from international leaders in the field
Author: John M. Opitz
Publisher:
ISBN:
Category : Psychology
Languages : en
Pages : 422
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Book Description
Author: Stasolla, Fabrizio
Publisher: IGI Global
ISBN: 1799874311
Category : Medical
Languages : en
Pages : 396
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Book Description
People with neurological disorders may experience significant problems, isolation, detachment, and passivity while dealing with environmental requests. They constantly rely on caregivers and family assistance, which can create negative outcomes on their quality of life. An emerging way to overcome these issues is assistive technology-based interventions (AT). AT-based programs are designed to fill the gap between human/individual capacities or skills and environmental requests. These technologies can also bring about independence and self-determination and provide people with neurological disorders an active role, positive participation, and an enhanced status in being able to achieve functional daily activities by reducing the roles of their families and caregivers. The positive impacts of this technology are an important area of research, and its usage for neurological disorders is critical for the assessment and recovery of patients. Assistive Technologies for Assessment and Recovery of Neurological Impairments explores the use of AT-based programs for promoting independence and self-determination of individuals with neurological disorders. The chapters discuss AT-based interventions in detail with the specific technologies that are being used, the positive effects on patients, and evidence-based practices. This book also focuses on specific technologies such as virtual reality (VR) setups and augmented reality (AR) as valid ecological environments for patients that ensure methodological control and behavioral tracking for both assessment and rehabilitation purposes. This book is essential for occupational therapists, speech therapists, physiotherapists, neurologists, caregivers, psychologists, practitioners, medical professionals, medical technologists, IT consultants, academicians, and students interested in assistive technology interventions for people with neurological impairments.
Author: Conxi Lázaro
Publisher: Academic Press
ISBN: 0128205202
Category : Medical
Languages : en
Pages : 438
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Book Description
Clinical DNA Variant Interpretation: Theory and Practice, a new volume in the Translational and Applied Genomics series, covers foundational aspects, modes of analysis, technology, disease and disorder specific case studies, and clinical integration. This book provides a deep theoretical background, as well as applied case studies and methodology, enabling researchers, clinicians and healthcare providers to effectively classify DNA variants associated with disease and patient phenotypes. Practical chapters discuss genomic variant interpretation, terminology and nomenclature, international consensus guidelines, population allele frequency, functional evidence transcripts for RNA, proteins, and enzymes, somatic mutations, somatic profiling, and much more. - Compiles best practices, methods and sound evidence for DNA variant classification in one applied volume - Features chapter contributions from international leaders in the field - Includes practical examples of variant classification for common and rare disorders, and across clinical phenotypes
