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State of the Art of Research on Down Syndrome, Volume 56, the latest release in the International Review of Research in Developmental Disabilities series, highlights new advances in the field, with this new volume presenting interesting chapters on the Genetics and Genomics of Down Syndrome, Motor Development and Down Syndrome, Cognitive Profiles in Individuals with Down syndrome, Working Memory and Down syndrome, Environment Learning in Individuals with Down syndrome, Reading for Comprehension: The Contribution of Decoding, Linguistic and Cognitive Skills, Number Sense in Down syndrome, Early Starting States in Infants with Down Syndrome: Implications for Research and Practice, and more. - Provides the authority and expertise of leading contributors from an international board of authors - Presents the latest release in the International Review of Research in Developmental Disabilities series - Updated release includes the latest information on the State of the Art of Research on Down Syndrome
People with Down Syndrome show a specific developmental profile with strengths in social understanding and visual learning and memory, and more difficulties with motor processes, speech and language, and auditory-vocal short-term memory. It is important that parents, practitioners and teachers know this and adapt interventions and educational approaches to take account of this particular profile. This is the only book to date that explains the developmental profile of people with Down Syndrome from its many different angles. It covers a range of perspectives, including the biology, psychology, speech and language, health care, and social competence of both children and adults with Down Syndrome. All the information is gathered and placed in the context of the neuro-genetic science that is developing around this area.
Recent advances in medicine are allowing people with Down syndrome to live longer and more productively - while at the same time creating new medical and social challenges for them and the people who provide their care. Down Syndrome: Living and Learning in the Community, which was written under the auspices of the National Down Syndrome Society, provides long-awaited, state-of-the-art information and advice about the disease. This book will prove an invaluable tool for parents and health care professionals, enabling people with Down syndrome to cope with the problems they face and participate to the fullest in community life.
This text provides speech and language therapists and language researchers with a state-of-the art review covering all aspects of speech and language development in individuals with Down syndrome. Written by leading experts in the field, it includes chapters on: the principles which should guide intervention; prelinguistic development; pragmatics and communication; literacy and language; augmentative communication; intervention with adolescents and adults; maintenance of skills for older adults; and a perspective on pertinent issues. Each chapter summarizes research and provides guidelines for effective interventions. This book should be a valuable guide to those working in the field who wish to be able to provide evidence-based interventions for individuals with Down syndrome and to contribute to their quality of life by improving their communication skills.
This volume offers a state-of-art review of what is known about young children with Down syndrome from a developmental perspective. The underlying theme of the book is that children with Down syndrome, despite their constitutional anomalies and their additional medical and biological problems, can be understood from a normative developmental framework. Interventions guided by developmental principles in the biological, educational and psychological realms are more likely to result in informed knowledge about how best to help children with Down syndrome and their families. Children with Down Syndrome will appeal to researchers, theoreticians, educators, and clinicians in a range of disciplines, as well as to parents, social policymakers, and other advocates for the best interests of children with Down syndrome.
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.
This book contains updated reviews and original research work on Down Syndrome focussing on brandnew results in neurobiology, in particular results on gene hunting (subtractive hybridization, differential display) and neurochemistry. The book provides new data such as a subtractive library of Down Syndrome brain showing cDNAs that are overexpressed or downregulated and can be regarded as a source for further research on the preliminary transcriptional data given. A 2D-electrophoretic map of human brain proteins including Down Syndrome brain protein expression established by in-gel-digestion of spots with subsequent MALDI-identification provides the scientific basis for protein work to the neuroscientist. Altogether, the book provides a series of new candidate genes possibly involved in Down Syndrome neurobiology, tools for neuroscience studies on Down Syndrome brain thus serving as a manual and updated views and aspects on Down Syndrome pathobiology.
Even as classic cytogenetics has given way to molecular karyotyping, and as new deletion and duplication syndromes are identified almost every day, the fundamental role of the genetics clinic remains mostly unchanged. Genetic counselors and medical geneticists explain the "unexplainable," helping families understand why abnormalities occur and whether they're likely to occur again. Chromosome Abnormalities and Genetic Counseling is the genetics professional's definitive guide to navigating both chromosome disorders and the clinical questions of the families they impact. Combining a primer on these disorders with the most current approach to their best clinical approaches, this classic text is more than just a reference; it is a guide to how to think about these disorders, even as our technical understanding of them continues to evolve. Completely updated and still infused with the warmth and voice that have made it essential reading for professionals across medical genetics, this edition of Chromosome Abnormalities and Genetic Counseling represents a leap forward in clinical understanding and communication. It is, as ever, essential reading for the field.
Der Band bietet einen aktuellen Überblick über klinische, entwicklungsbezogene, psychosoziale, erziehungs- und berufsbezogene Fragen bei Patienten mit Down Syndrom. Er diskutiert auch die Konsequenzen des Human-Genom-Projektes und die Sequenzierung des Chromosom 21. Erörtert aktuellste Entwicklungen, u.a. zum Thema Sexualität, Einbeziehung, Übergang ins Erwachsenenalter und Rechtsprechung. Behandelt die aktuellsten Neuerungen der "Health Care Guidelines for Individuals with Down Syndrome". Enthält auch Material zu mitunter kontrovers diskutierten alternativen und unkonventionellen Therapieansätzen.
This book provides a concise yet comprehensive source of current information on Down syndrome. Research workers, scientists, medical graduates and paediatricians will find it an excellent source for reference and review. This book has been divided into four sections, beginning with the Genetics and Etiology and ending with Prenatal Diagnosis and Screening. Inside, you will find state-of-the-art information on: 1. Genetics and Etiology 2. Down syndrome Model 3. Neurologic, Urologic, Dental & Allergic disorders 4. Prenatal Diagnosis and Screening Whilst aimed primarily at research workers on Down syndrome, we hope that the appeal of this book will extend beyond the narrow confines of academic interest and be of interest to a wider audience, especially parents and relatives of Down syndrome patients.