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: 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: 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: 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: Olivier Dulac
Publisher: Newnes
ISBN: 0444626980
Category : Medical
Languages : en
Pages : 893
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Book Description
The child is neither an adult miniature nor an immature human being: at each age, it expresses specific abilities that optimize adaptation to its environment and development of new acquisitions. Diseases in children cover all specialties encountered in adulthood, and neurology involves a particularly large area, ranging from the brain to the striated muscle, the generation and functioning of which require half the genes of the whole genome and a majority of mitochondrial ones. Human being nervous system is sensitive to prenatal aggression, is particularly immature at birth and development may be affected by a whole range of age-dependent disorders distinct from those that occur in adults. Even diseases more often encountered in adulthood than childhood may have specific expression in the developing nervous system. The course of chronic neurological diseases beginning before adolescence remains distinct from that of adult pathology – not only from the cognitive but also motor perspective, right into adulthood, and a whole area is developing for adult neurologists to care for these children with persisting neurological diseases when they become adults. Just as pediatric neurology evolved as an identified specialty as the volume and complexity of data became too much for the general pediatician or the adult neurologist to master, the discipline has now continued to evolve into so many subspecialties, such as epilepsy, neuromuscular disease, stroke, malformations, neonatal neurology, metabolic diseases, etc., that the general pediatric neurologist no longer can reasonably possess in-depth expertise in all areas, particularly in dealing with complex cases. Subspecialty expertise thus is provided to some trainees through fellowship programmes following a general pediatric neurology residency and many of these fellowships include training in research. Since the infectious context, the genetic background and medical practice vary throughout the world, this diversity needs to be represented in a pediatric neurology textbook. Taken together, and although brain malformations (H. Sarnat & P. Curatolo, 2007) and oncology (W. Grisold & R. Soffietti) are covered in detail in other volumes of the same series and therefore only briefly addressed here, these considerations justify the number of volumes, and the number of authors who contributed from all over the world. Experts in the different subspecialties also contributed to design the general framework and contents of the book. Special emphasis is given to the developmental aspect, and normal development is reminded whenever needed – brain, muscle and the immune system. The course of chronic diseases into adulthood and ethical issues specific to the developing nervous system are also addressed. - A volume in the Handbook of Clinical Neurology series, which has an unparalleled reputation as the world's most comprehensive source of information in neurology - International list of contributors including the leading workers in the field - Describes the advances which have occurred in clinical neurology and the neurosciences, their impact on the understanding of neurological disorders and on patient care
Author: Alison Kerr
Publisher:
ISBN:
Category : Medical
Languages : en
Pages : 412
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Book Description
Rett disorder, first described by Andreas Rett in 1966, is a condition which involves the functions on which intelligence and expression depend. It is probably the most common genetic disorder encountered in profoundly intellectually disabled females. Its many manifestations include epilepsy, scoliosis, nutritional difficulties, and disorders of mood and movement. This book provides an up-to-date account of current research into the disorder at a time when the causative mutations have just been discovered on the MeCP2 gene. The first section of the book presents the clinical signs and the latest research into the genetic, neuro- anatomical and neuro-chemical aspects of Rett disorder. The second section moves on to deal with the neuro-physiological research, concentrating on the autonomic system, which is deeply implicated in the disease mechanisms. The final section of the book examines the behavioural and psychological features of Rett disorder and discusses issues relating to communication. The chapters are written by a distinguished, international team of experts, all currently active in research. The contributions bring our understanding of the Rett disorder right up-to-date, as the study of the condition moves from an era of description into a time when there are real possibilities for beneficial interventions.
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: Lewis Jassey
Publisher: Penguin
ISBN: 0698147944
Category : Family & Relationships
Languages : en
Pages : 130
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Book Description
Developed and refined by two successful pediatricians, the "Jassey Way" boasts more than a 90% success rate of getting children to sleep through the night in their first 4 weeks of life. A safe and proven technique, the Jassey Way uses a feeding schedule that allows newborns (and their parents) a full night's sleep at a younger age than other sleep training techniques.
