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Author: Publisher: Elsevier ISBN: 0444543007 Category : Medical Languages : en Pages : 273
Book Description
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
Author: Publisher: Elsevier ISBN: 0444543007 Category : Medical Languages : en Pages : 273
Book Description
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
Author: Terri Couwenhoven Publisher: ISBN: 9781890627331 Category : Education Languages : en Pages : 331
Book Description
Parents of children with Down syndrome and other intellectual disabilities are accustomed to paying close attention to their child's physical, cognitive, and emotional development. This proactive approach should also include their child's sexual development, which for many parents may not seem as obvious or urgent, especially to those with young children. Drawing on her unique background as both a sexual educator and mother of a child with Down syndrome, the author blends factual information and practical ideas for teaching children with Down syndrome about their bodies, puberty, and sexuality. This book gives parents the confidence to speak comfortably about these sometimes difficult subjects. In an easy-to-read, non-clinical style, the book covers relevant issues and concerns for children of all ages, such as: Labelling & explaining private body parts; Identifying & expressing emotions; Respecting personal space; Teaching self-care & hygiene; Understanding norms of privacy; Understanding gender identity; Showing appropriate levels of affection. It also covers later issues that affect teenagers and young adults, including: Anticipating and understanding puberty; Dealing with periods, bras for girls; Experiencing erections, wet dreams for boys; Relating to the opposite sex; Sharing parental values about sexuality; Explaining sexual relationships; Preventing sexual abuse; Understanding how Down syndrome affects puberty & fertility rates. Each chapter highlights important points with key messages, teaching activities, parental pauses, and anecdotes, all of which prompt readers to stop and consider concepts or values associated with a particular topic. The final chapter covers the special concerns of parents who are now teaching teenaged or adult children about sexuality for the first time. It concludes with extensive appendices containing invaluable teaching materials and illustrations of body parts and functions.
Author: Heather Avis Publisher: WaterBrook ISBN: 0593232658 Category : Juvenile Fiction Languages : en Pages : 40
Book Description
NEW YORK TIMES BESTSELLER • This joyful rhyming book encourages children to value the “different” in all people, leading the way to a kinder world in which the differences in all of us are celebrated and embraced. Macy is a girl who’s a lot like you and me, but she's also quite different, which is a great thing to be. With kindness, grace, and bravery, Macy finds her place in the world, bringing beauty and laughter wherever she goes and leading others to find delight in the unique design of every person. Children are naturally aware of the differences they encounter at school, in their neighborhood, and in other everyday relationships. They just need to be given tools to understand and appreciate what makes us “different,” permission to ask questions about it, and eyes to see and celebrate it in themselves as well as in those around them.
Author: William I. Cohen Publisher: John Wiley & Sons ISBN: 0471461229 Category : Health & Fitness Languages : en Pages : 493
Book Description
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.
Author: Marie-Claude Potier Publisher: Frontiers Media SA ISBN: 2889450457 Category : Electronic book Languages : en Pages : 183
Book Description
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.
Author: John C. Carey Publisher: John Wiley & Sons ISBN: 1119432677 Category : Science Languages : en Pages : 1104
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: Dennis McGuire Publisher: ISBN: 9781606132852 Category : Family & Relationships Languages : en Pages : 466
Book Description
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: - Publisher: Society for Neuroscience ISBN: Category : Psychology Languages : en Pages : 275
Book Description
Brain Facts is a primer on the brain and nervous system, published by the Society for Neuroscience. Brain Facts is a valuable resource for educators, students, and anyone interesting in learning about neuroscience. Download an audio recording of Brain Facts today, available on BrainFacts.org and through iTunes U. The brain is the most complex biological structure in the known universe. It is a topic rich with exciting new discoveries, continuing profound unknowns, and critical implications for individuals, families, and societies. Learn more about the brain and nervous system through articles, images, videos, and more on BrainFacts.org, a public information initiative of The Kavli Foundation, the Gatsby Charitable Foundation, and the Society for Neuroscience.
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Author: Cliff Cunningham
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Author: Terri Couwenhoven
Author: Heather Avis
Author: William I. Cohen
Author: Marie-Claude Potier
Author: John C. Carey
Author: Dennis McGuire
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