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Down Syndrome Across the Life Span by Monica Cuskelly,Anne Jobling,Susan Buckley Pdf
This book promotes a positive message for people with Down syndrome across the world. Living with Down Syndrome is a positive experience for the majority of children and adults with Down syndrome, and for their families. Of course there are difficulties to be faced, but quality of life, from infancy to old age, is determined more by the quality of healthcare, education and social inclusion offered to individuals, than by the developmental difficulties that are associated with Down syndrome. The aim of this book is to bring the latest information on research and good practice to families, practitioners and policy makers in order improve the services available to individuals with Down syndrome in all countries.
Down Syndrome: From Understanding the Neurobiology to Therapy by Anonim Pdf
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
International Review of Research in Mental Retardation by Anonim Pdf
International Review of Research in Developmental Disabilities is an ongoing scholarly look at research into the causes, effects, classification systems, syndromes, etc. of mental retardation. This thematic volume, "Health Issues in Down Syndrome," will cover health issues for individuals across the life span. With the life expectancy of individuals now reaching 60 years or more, it has transformed from an acute condition with a short life span to a chronic condition that needs to be managed over a close to normal life span. The extra chromosome 21 that defines most cases of Down syndrome affects the functioning of many biological processes and organ systems. The cascade of events triggered by the extra chromosome 21 creates a complex set of medical conditions needing to managed over the life span. The ability to manage these conditions has led to an improvement in longevity and quality of life for individuals with Down syndrome. Provides the most recent scholarly research in the study of health issues in Down syndrome A vast range of perspectives is offered, and many topics are covered An excellent resource for academic researchers
Intellectual Disabilities in Down Syndrome from Birth and throughout Life: Assessment and Treatment by Marie-Claude Potier,Roger H. Reeves Pdf
Research on the multiple aspects of cognitive impairment in Down syndrome (DS), from genes to behavior to treatment, has made tremendous progress in the last decade. The study of congenital intellectual disabilities such as DS is challenging since they originate from the earliest stages of development and both the acquisition of cognitive skills and neurodegenerative pathologies are cumulative. Comorbidities such as cardiac malformations, sleep apnea, diabetes and dementia are frequent in the DS population, as well, and their increased risk provides a means of assessing early stages of these pathologies that is relevant to the general population. Notably, persons with DS will develop the histopathology of Alzheimer’s disease (formation of neuritic plaques and tangles) and are at high risk for dementia, something that cannot be predicted in the population at large. Identification of the gene encoding the amyloid precursor protein, its localization to chromosome 21 in the 90’s and realization that all persons with DS develop pathology identified this as an important piece of the amyloid cascade hypothesis in Alzheimer’s disease. Awareness of the potential role of people with DS in understanding progression and treatment as well as identification of genetic risk factors and also protective factors for AD is reawakening. For the first time since DS was recognized, major pharmaceutical companies have entered the search for ameliorative treatments, and phase II clinical trials to improve learning and memory are in progress. Enriched environment, brain stimulation and alternative therapies are being tested while clinical assessment is improving, thus increasing the chances of success for therapeutic interventions. Researchers and clinicians are actively pursuing the possibility of prenatal treatments for many conditions, an area with a huge potential impact for developmental disorders such as DS. Our goal here is to present an overview of recent advances with an emphasis on behavioral and cognitive deficits and how these issues change through life in DS. The relevance of comorbidities to the end phenotypes described and relevance of pharmacological targets and possible treatments will be considerations throughout.
The Neurobiology of Aging and Alzheimer Disease in Down Syndrome by Elizabeth Head,Ira Lott Pdf
The Neurobiology of Aging and Alzheimer Disease in Down Syndrome provides a multidisciplinary approach to the understanding of aging and Alzheimer disease in Down syndrome that is synergistic and focused on efforts to understand the neurobiology as it pertains to interventions that will slow or prevent disease. The book provides detailed knowledge of key molecular aspects of aging and neurodegeneration in Down Syndrome by bringing together different models of the diseases and highlighting multiple techniques. Additionally, it includes case studies and coverage of neuroimaging, neuropathological and biomarker changes associated with these cohorts. This is a must-have resource for researchers who work with or study aging and Alzheimer disease either in the general population or in people with Down syndrome, for academic and general physicians who interact with sporadic dementia patients and need more information about Down syndrome, and for new investigators to the aging and Alzheimer/Down syndrome arena. Discusses the complexities involved with aging and Alzheimer’s disease in Down syndrome Summarizes the neurobiology of aging that requires management in adults with DS and leads to healthier aging and better quality of life into old age Serves as learning tool to orient researchers to the key challenges and offers insights to help establish critical areas of need for further research
Neurodevelopmental Disorders Across the Lifespan by Emily K. Farran,Annette Karmiloff-Smith Pdf
Nowadays, it is widely accepted that there is no single influence (be it nature or nurture) on cognitive development. Cognitive abilities emerge as a result of interactions between gene expression, cortical and subcortical brain networks, and environmental influences. In recent years, our study of neurodevelopmental disorders has provided much valuable information on how genes, brain development, behaviour, and environment interact to influence development from infancy to adulthood. This is the first book to present evidence on development across the lifespan across these multiple levels of description (genetic, brain, cognitive, environmental). In the book, the authors have chosen a well-defined disorder, Williams syndrome (WS), to explore the impact of genes, brain development, behaviour, as well as the individual's environment on development. WS is used as a model disorder to demonstrate the authors approach to understanding development, whilst being presented in comparison to other neurodevelopmental disorders - Autism, Developmental Dyscalculia, Down syndrome, Dyslexia, Fragile X syndrome, Prader-Willi syndrome, Specific Language Impairment, Turner syndrome - to illustrate differences in development across neurodevelopmental disorders. Williams syndrome is particularly informative for exploring development: Firstly, it has been extensively researched at multiple levels: genes, brain, cognition and behaviour, as well as in terms of the difficulties of daily living and social interaction. Secondly, it has been studied across the lifespan, with many studies on infants and toddlers with WS as well as a large number on children, adolescents and adults. The authors also explore a number of domain-general and domain-specific processes in the verbal, non-verbal and social domains, across numerous neurodevelopmental disorders. This illustrates, among other factors, the importance of developmental timing, i.e. that the development of a cognitive skill at a specific timepoint can impact on subsequent development within that domain, but also across domains. In addition, the authors discuss the value of investigating basic-level abilities from as close to the infant start-state as possible, presenting evidence of where cross-syndrome comparisons have shed light on the cascading impacts of subtle similarities and discrepancies in early delay or deviance, on subsequent development. Designed such that readers with an interest in any neurodevelopmental disorder can gain insight into the intricate dynamics of cognitive development, the book covers both theoretical issues and those of clinical relevance. It will be an invaluable reference for any researcher, clinician, student as well as interested parents or teachers wishing to learn about neurodevelopmental disorders from a developmental framework.
Multimodal Aac for Individuals with Down Syndrome by Krista M. Wilkinson,Lizbeth H. Finestack Pdf
This volume examines the role of multimodal augmentative and alternative communication (AAC) in supporting speech, language, and communication of individuals with Down syndrome, across the lifespan.
People with Down syndrome are increasingly encouraged to participate in community activities, and effective patterns of movement need to be established during early childhood to aid their social integration and acceptance. This book considers the full life cycle of a person with Down syndrome and outlines practices and activities that will foster constructive patterns of movement from infancy through childhood and adolescence to later adulthood.
Living with Down Syndrome by Roy I Brown,Rhonda Faragher,Karen Watchman Pdf
This book is written for parents, grandparents, medical staff and caregivers of people with Down syndrome; undergraduate students and young researchers in the field of intellectual disabilities, to give a broad coverage of Down syndrome, showing the latest advances and the changes in its perception, based on practice, personal experience and research.Down syndrome is discussed throughout the lifespan - from birth to old age, in the family and community. The issues of friendship, school and employment as well as health in its broadest sense and the challenges of ageing are reviewed. The application of policies based on both the Convention on the Rights of Persons with Disabilities and the concept of quality of life is also considered. Genetics is often misunderstood, so a simple explanation is given in terms of a condition that occurs naturally as a result of billions of years of evolution.The variability of people with Down syndrome is exemplified with cases from various parts of the world that have been successful in their lives and in their activities. The book is summarised with an optimistic photo essay.It contains an abundant bibliography both historical and recent.This book, originally published in Spanish, was translated to benefit a wider range of readers in need of a rigorous exposition of Down syndrome in accessible terms, including those whose English is their second language.
Mental Wellness in Adults with Down Syndrome by Dennis McGuire,Brian Chicoine Pdf
This thoroughly updated second edition of MENTAL WELLNESS IN ADULTS WITH DOWN SYNDROME is upbeat and accessible in tone, yet encyclopedic in scope. The size of the book reflects both the breadth of the authors' knowledge--acquired as cofounders of the first medical clinic dedicated solely to the care of adults with Down syndrome--and the number of psychosocial issues and mental disorders that can affect people with Down syndrome. It's the go-to guide for parents, health practitioners, and caregivers who support teens and adults with Down syndrome. MENTAL WELLNESS emphasizes that understanding and appreciating both the strengths and challenges of people with Down syndrome is the key to promoting good mental health. It shows readers how to distinguish between bona fide mental health issues and common characteristics of Down syndrome--quirks or coping strategies. For example, although talking to oneself can be a sign of psychosis, many adults with Down syndrome use self-talk as an effective problem-solving strategy. The second edition includes new chapters on sensory issues (written by Dr. Katie Frank) and regression, expanded and now separate chapters on communication, concrete thinking, and visual memory, and an extensively updated chapter on Alzheimer's disease citing abundant new research. Other chapters cover a range of conditions and assessment and treatment options: What Is Normal? Self-Esteem & Self-Image Self-Talk Grooves & Flexibility Life-Span Issues Social Skills Mood & Anxiety Disorders Obsessive-Compulsive Disorder Psychotic Disorders Eating Refusal Challenging Behavior Self-Injurious Behavior Autism Tics, Tourette Syndrome & Stereotypies While it's not inevitable that people with Down syndrome will experience mental health problems, certain biological differences and environmental stressors can create greater susceptibility. Assessment and treatment options are detailed for each condition. With this guide, caregivers will be able to foster good mental health and troubleshoot challenging mental health issues.
Author : William I. Cohen,Lynn Nadel,Myra E. Madnick Publisher : John Wiley & Sons Page : 493 pages File Size : 45,5 Mb Release : 2003-04-14 Category : Health & Fitness ISBN : 9780471461227
Down Syndrome by William I. Cohen,Lynn Nadel,Myra E. Madnick Pdf
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.
Testing Women, Testing the Fetus by Rayna Rapp Pdf
Rich with the voices and stories of participants, these touching, firsthand accounts examine how women of diverse racial, ethnic, class and religious backgrounds perceive prenatal testing, the most prevalent and routinized of the new reproducing technologies. Based on the author's decade of research and her own personal experiences with amniocentesis, Testing Women, Testing the Fetus explores the "geneticization" of family life in all its complexity and diversity.
Cassidy and Allanson's Management of Genetic Syndromes by John C. Carey,Suzanne B. Cassidy,Agatino Battaglia,David Viskochil Pdf
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.
Fasten Your Seatbelt by Brian Skotko,Susan P. Levine Pdf
Even the closest brothers and sisters don't always get along or understand each other. Add a disability like Down syndrome to the mix, and that sibling relationship gets even more complicated, especially for teenagers. Fasten Your Seatbelt is the first book written exclusively for teens with a brother or sister with Down syndrome. In an easy-to-read, question & answer format, it tackles a broad range of their most common issues and concerns. Nearly 100 questions--all posed by teen siblings--are grouped into the following categories: Facts and stats about Down syndrome How people with Down syndrome learn Handling parent and family conflicts Dealing with your sibling's frustrating behaviors Managing uncomfortable situations Sorting out your feelings Becoming an advocate What the future holds for you and your sibling Finding local and national resources Thoughtful, knowledgeable answers are provided by Brian Skotko, the brother of a young woman with Down syndrome, and Sue Levine, a social worker focused on sibling issues for the past 30 years. Fasten Your Seatbelt gives teens the green light to explore their own feelings and questions about their sibling with Down syndrome and how their relationship may change in the future. Wondering whats on their minds? Here are a few sample questions from the book: Why does my brother always have temper tantrums? How can one extra chromosome make someone so different? Can my sister with Down syndrome marry someday? Will my brother be able to live on his own as an adult?