Download or read book Williams Beuren Syndrome written by Colleen A. Morris and published by JHU Press. This book was released on 2006-03-07 with total page 394 pages. Available in PDF, EPUB and Kindle. Book excerpt: Williams-Beuren syndrome (WBS) is a genetic condition characterized by low IQ, cardiovascular malformations, dysmorphic facial features, and a striking pattern of behaviors, weaknesses, and strengths, such as musical and verbal abilities, extraordinary friendliness, empathy, and social grace. Because the typical psychological and cognitive profile is unique, examination of this syndrome sheds light on how the human brain is organized and how different aspects of cognition and behavior arise. Williams-Beuren Syndrome offers concise, comprehensive coverage of WBS research and its clinical implications, including its genetics and molecular biology, neurobiological and behavioral traits, and medical problems and their management. Each chapter emphasizes how research can be applied to clinical practice. The expertise of the volume editors ranges from pioneering research to personal experience: Colleen Morris played a key role in the breakthrough discovery of the missing elastin gene in patients with WBS; Howard Lenhoff is a biologist, an expert on WBS and musical pitch, and the parent of a WBS musical savant; Paul Wang is a pediatrician and cognitive researcher who works in the WBS community. Researchers and clinicians in genetics, pediatrics, and psychiatry/psychology will find in this volume a wealth of current information on WBS, as well as valuable insights into future research possibilities.
Download or read book Williams Syndrome Across Languages written by Susanne Bartke and published by John Benjamins Publishing. This book was released on 2004-01-01 with total page 412 pages. Available in PDF, EPUB and Kindle. Book excerpt: Williams Syndrome (WS), aka Williams Beuren Syndrome, is a developmental disorder that we have known about for some forty years. The cause for WS was detected only recently: a micro deletion on chromosome 7, more specifically at the region of chromosome 7q11.23. The cognitive and behavioral profile in WS is characterized by a marked discrepancy between verbal and non-verbal skills combined with relatively spared linguistic skills. Recent research has shown considerable progress defining the areas of intactness in linguistic abilities. This volume builds on that research, giving an overview of the psycholinguistic research undertaken and opening up new perspectives and insights through new data and analyses. This book is of interest to researchers of applied cognitive science and to linguists more occupied with theoretical research.
Download or read book Diabetes in Childhood and Adolescence written by Francesco Chiarelli and published by Karger Medical and Scientific Publishers. This book was released on 2005-01-01 with total page 391 pages. Available in PDF, EPUB and Kindle. Book excerpt: Diabetes mellitus is one of the most frequent chronic diseases affecting children and adolescents. The number of young children being diagnosed with type 1 diabetes is increasing worldwide and an epidemic of type 2 diabetes already at a young age is being
Download or read book Cassidy and Allanson s Management of Genetic Syndromes written by John C. Carey and published by John Wiley & Sons. This book was released on 2021-01-27 with total page 1104 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Download or read book Autism and William s Syndrome written by Helen Tager-Flusberg and published by Psychology Press. This book was released on 2015-10-01 with total page 275 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book presents a new perspective on the development of theory of mind based on an integration of empirical research that has been conducted on autism and William's syndrome.
Download or read book The Cambridge Encyclopedia of Child Development written by Brian Hopkins and published by . This book was released on 2017-10-19 with total page 993 pages. Available in PDF, EPUB and Kindle. Book excerpt: Updated and expanded to 124 entries, The Cambridge Encyclopedia of Child Development remains the authoritative reference in the field.
Download or read book Williams Syndrome across Languages written by Susanne Bartke and published by John Benjamins Publishing. This book was released on 2004-06-22 with total page 403 pages. Available in PDF, EPUB and Kindle. Book excerpt: Williams Syndrome (WS), aka Williams Beuren Syndrome, is a developmental disorder that we have known about for some forty years. The cause for WS was detected only recently: a micro deletion on chromosome 7, more specifically at the region of chromosome 7q11.23. The cognitive and behavioral profile in WS is characterized by a marked discrepancy between verbal and non-verbal skills combined with relatively spared linguistic skills. Recent research has shown considerable progress defining the areas of intactness in linguistic abilities. This volume builds on that research, giving an overview of the psycholinguistic research undertaken and opening up new perspectives and insights through new data and analyses. This book is of interest to researchers of applied cognitive science and to linguists more occupied with theoretical research.
Download or read book Nephrology and Fluid Electrolyte Physiology written by William Oh and published by Elsevier Health Sciences. This book was released on 2018-06-25 with total page 472 pages. Available in PDF, EPUB and Kindle. Book excerpt: Dr. Richard Polin's Neonatology Questions and Controversies series highlights the most challenging aspects of neonatal care, offering trustworthy guidance on up-to-date diagnostic and treatment options in the field. In each volume, renowned experts address the clinical problems of greatest concern to today's practitioners, helping you handle difficult practice issues and provide optimal, evidence-based care to every patient. - Stay fully up to date in this fast-changing field with Nephrology and Fluid/Electrolyte Physiology, 3rd Edition. - New chapters on Inherited Disorders of Calcium, Phosphate and Magnesium; Fluid and Electrolyte Management of High Risk Infants; Renal Development and Molecular Pathogenesis of Renal Dysplasia; and Prenatal Programming, which describes how prenatal insults can result in hypertension, kidney and cardiovascular disease. - The most current clinical information, including new content on the molecular basis for hereditary tubulopathies and inherited disorders of calcium, phosphate, and magnesium homeostasis. - New information on genetics and pharmacology, neonatal hypertension, diuretic use in the newborn, prenatal programming of adult diseases, lung fluid balance, and much more. - Consistent chapter organization to help you find information quickly and easily. - The most authoritative advice available from world-class neonatologists who share their knowledge of new trends and developments in neonatal care. Purchase each volume individually, or get the entire 7-volume set!Gastroenterology and NutritionHematology, Immunology and GeneticsHemodynamics and CardiologyInfectious Disease and Pharmacology New Volume!Nephrology and Fluid/Electrolyte PhysiologyNeurologyThe Newborn Lung
Download or read book Atlas of Acquired Cardiovascular Disease Imaging in Children written by Randy Ray Richardson, MD and published by Springer. This book was released on 2016-10-13 with total page 154 pages. Available in PDF, EPUB and Kindle. Book excerpt: This atlas is a concise visual guide to the imaging of acquired heart disease in infants, children, and adolescents. Imaging plays an ever-increasing vital role in diagnosis, preoperative planning, and postoperative management for children with these disorders. The book reviews techniques for lowering radiation, discusses protocols for imaging in children, and provides recommendations for the most appropriate studies that decrease the time and cost of imaging these patients. Focusing on functional and anatomic imaging with an emphasis on three-dimensional color-coded models derived from CT and MR scans, this book promotes understanding of cardiovascular disorders in children, including infectious, neoplastic, and metabolic diseases. Atlas of Acquired Cardiovascular Disease Imaging in Children is a valuable resource through which cardiologists, radiologists, pediatric cardiothoracic surgeons, and residents can improve the quality and treatment of pediatric and adolescent patients with acquired heart disease.
Download or read book Dog Is Love written by Clive D. L. Wynne and published by Houghton Mifflin. This book was released on 2019 with total page 277 pages. Available in PDF, EPUB and Kindle. Book excerpt: A pioneering canine behaviorist draws on cutting-edge research to show that a single, simple trait--the capacity to love--is what makes dogs such perfect companions for humans, and to explain how we can better reciprocate their affection.
Download or read book Management of Genetic Syndromes written by Suzanne B. Cassidy and published by John Wiley & Sons. This book was released on 2011-09-20 with total page 1678 pages. Available in PDF, EPUB and Kindle. Book excerpt: The bestselling guide to the medical management of common genetic syndromes —now fully revised and expanded A review in the American Journal of Medical Genetics heralded the first edition of Management of Genetic Syndromes as an "unparalleled collection of knowledge." Since publication of the first edition, improvements in the molecular diagnostic testing of genetic conditions have greatly facilitated the identification of affected individuals. This thorough revision of the critically acclaimed bestseller offers original insights into the medical management of sixty common genetic syndromes seen in children and adults, and incorporates new research findings and the latest advances in diagnosis and treatment of these disorders. Expanded to cover five new syndromes, this comprehensive new edition also features updates of chapters from the previous editions. Each chapter is written by an expert with extensive direct professional experience with that disorder and incorporates thoroughly updated material on new genetic findings, consensus diagnostic criteria, and management strategies. Edited by two of the field's most highly esteemed experts, this landmark volume provides: A precise reference of the physical manifestations of common genetic syndromes, clearly written for professionals and families Extensive updates, particularly in sections on diagnostic criteria and diagnostic testing, pathogenesis, and management A tried-and-tested, user-friendly format, with each chapter including information on incidence, etiology and pathogenesis, diagnostic criteria and testing, and differential diagnosis Up-to-date and well-written summaries of the manifestations followed by comprehensive management guidelines, with specific advice on evaluation and treatment for each system affected, including references to original studies and reviews A list of family support organizations and resources for professionals and families Management of Genetic Syndromes, Third Edition is a premier source to guide family physicians, pediatricians, internists, medical geneticists, and genetic counselors in the clinical evaluation and treatment of syndromes. It is also the reference of choice for ancillary health professionals, educators, and families of affected individuals looking to understand appropriate guidelines for the management of these disorders. From a review of the first edition: "An unparalleled collection of knowledge . . . unique, offering a gold mine of information." —American Journal of Medical Genetics
Download or read book Behavioural Phenotypes written by Gregory O'Brien and published by Cambridge University Press. This book was released on 1995 with total page 236 pages. Available in PDF, EPUB and Kindle. Book excerpt: A timely distillation of current thinking on the presentation of behavioural disorders and their origins.
Download or read book Understanding Williams Syndrome written by Eleanor Semel and published by Taylor & Francis. This book was released on 2003-10-17 with total page 479 pages. Available in PDF, EPUB and Kindle. Book excerpt: Comprehensive and readable, Understanding Williams Syndrome: Behavioral Patterns and Interventions is an essential guide for all those professionally, scientifically, or personally involved with this so frequently misunderstood and underserved population--psychologists, psychiatrists, social workers, and other mental health professionals; special educators and vocational counselors; speech-language, physical, and occupational therapists; audiologists; physicians; and parents. In the last 20 years, Williams syndrome has captured the interest of large numbers of scientists and attracted considerable media attention in spite of its rarity (estimated at no more than one in 30,000 births). Those diagnosed display a unique pattern of behavioral, cognitive, and physical limitations and strengths with fascinating neurogenetic implications--a pattern that poses enormous challenges to their parents and caregivers. The authors, a specialist in learning disabilities and a developmental psychologist, review basic information about Williams syndrome, its medical conditions, paradoxical profile, and neurobiological mechanisms; and discuss distinctive features of the language and perceptual and motor performance of children and adults with the syndrome. Other features include: * Strategies for working with patients. * An examination of the difference between Williams syndrome and other developmental disorders. * Problem-specific alternatives for treatment. * Analysis of new directions in research, clinical intervention, education, and systems for care delivery. Throughout, they stress variations among individuals and subgroups in ability level, skills, talents, and problem severity; and emphasize the necessity of recognizing these components in planning treatment on an individual basis.
Download or read book Genetics and Mental Retardation Syndromes written by Elisabeth M. Dykens and published by Brookes Publishing Company. This book was released on 2000 with total page 348 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book discusses in detail the genetic causes and implications, prevalence, physical characteristics, cognitive profiles, speech and language, medical complications, and behaviors of four major syndromes (Down, Williams, fragile X, and Prader-Willi) an
Download or read book Sleep in Children with Neurodevelopmental Disabilities written by Jennifer A. Accardo and published by Springer. This book was released on 2018-12-13 with total page 386 pages. Available in PDF, EPUB and Kindle. Book excerpt: This practical guide presents approaches to working with children and adolescents with neurodevelopmental disabilities who have sleep problems. Divided into four sections, the book begins with the impact of sleep problems in children with disabilities and the evaluation of sleep complaints. The next two sections cover the major categories of sleep disorders as they apply in children with disabilities, and specific neurodevelopmental disabilities with their characteristic sleep manifestations. The last section details options for treatment, which include behavioral and environmental strategies, occupational therapy, exercise, and medications. Chapters feature case studies that introduce and reinforce diagnostic and therapeutic approaches. Those engaged in the care of children with neurodevelopmental disabilities and sleep problems will find this text to be an invaluable guide when assessing and treating sleep disorders.
Download or read book Essentials of Anesthesia for Infants and Neonates written by Mary Ellen McCann and published by Cambridge University Press. This book was released on 2018-02-22 with total page 465 pages. Available in PDF, EPUB and Kindle. Book excerpt: A practical, comprehensive guide to the special needs of infants and neonates undergoing anesthesia.
Download or read book Zebrafish at the Interface of Development and Disease Research written by and published by Academic Press. This book was released on 2017-03-21 with total page 386 pages. Available in PDF, EPUB and Kindle. Book excerpt: Zebrafish at the Interface of Development and Disease Research presents the latest on the shared pathways that govern development and contribute to disease. Zebrafish have traditionally been used to study vertebrate development, providing interesting data on the developmental processes and genes that are implicated in disease. This new release in the series contains informative discussions on congenital heart defects in zebrafish, the use of zebrafish in studying kidney development and disease, and muscle development, homeostasis and disease in zebrafish. Each chapter interweaves the study of zebrafish development and its application to the immune system, the kidney, liver, heart and others. - The subject matter is unique - no single volume has pulled together the theme of development and disease with zebrafish as a centerpiece - Leading experts in the field - all of them running zebrafish focused labs for each chapter
