Down S Syndrome

Down syndrome (DS) is the most common example of neurogenetic aneuploid disorder leading to mental retardation. In most cases, DS results from an extra copy of chromosome 21 (HSA21) producing deregulated gene expression in brain that gives raise to subnormal intellectual functioning. The topic of this volume is of broad interest for the neuroscience community, because it tackles the concept of neurogenomics, that is, how the genome as a whole contributes to a neurodevelopmental cognitive disorders, such as DS, and thus to the development, structure and function of the nervous system. This volume of Progress in Brain Research discusses comparative genomics, gene expression atlases of the brain, network genetics, engineered mouse models and applications to human and mouse behavioral and cognitive phenotypes. It brings together scientists of diverse backgrounds, by facilitating the integration of research directed at different levels of biological organization, and by highlighting translational research and the application of the existing scientific knowledge to develop improved DS treatments and cures. Leading authors review the state-of-the-art in their field of investigation and provide their views and perspectives for future research Chapters are extensively referenced to provide readers with a comprehensive list of resources on the topics covered All chapters include comprehensive background information and are written in a clear form that is also accessible to the non-specialist

Updated to reflect the most current information in the field, this practical reference addresses the early reactions and feelings that parents may have as well as how a family can adapt when a child is diagnosed with Down syndrome. From birth to adulthood, the mental, motor, and social development of those living with the illness are explored in detail. Drawing from a comprehensive study of more than 160 children born with Down syndrome -- the largest survey of its type ever carried out -- this overview provides a sympathetic and understanding approach to this developmental disability, allowing parents to make the best decisions for their children's future and their own.

Combining medical knowledge with sympathetic common sense, this completely updated comprehensive handbook offers help and advice to all parents and carers of children with Down's syndrome, and shows them how to help their children flourish and reach their full potential. Written in association with the Down's Syndrome Association, this book goes beyond the average introduction to Down's syndrome and addresses the questions, practical or otherwise, that parents will often find themselves asking, and also offers information and advice on a wide variety of related issues, including:--current medical knowledge about the condition--advice on the special care of babies and young children--education and training--emotional and sexual development--integration into society

Ce document tente de fournir la somme des informations recueillies par l'auteur sur les aspects psychologiques touchant les personnes atteintes du syndrome de Down. Il décrit alors le développement psychologique des individus, les caractéristiques de l'intelligence, une analyse comparative de la personnalité, l'adaptation sociale, les aptitudes que les personnes peuvent développer, le développement cognitif, le langage et la communication. Il termine en portant son regard particulièrement sur la modification de comportement.

Offers a person-focused introduction to Down syndrome. This book explains the effects of Down syndrome on development, stressing that while individuals with Down syndrome do have special needs, they are people first, with the same rights and human needs as everyone else in their communities.

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.