Download or read book Atlas of X Linked Intellectual Disability Syndromes written by Roger E. Stevenson and published by Oxford University Press. This book was released on 2012-07-12 with total page 363 pages. Available in PDF, EPUB and Kindle. Book excerpt: The Atlas of Intellectual Disability Syndromes presents a concise description of 150 clinically distinctive syndromes caused by genes on the X chromosome. Each entry includes photographs and a differential matrix of similar syndromes. Appendices identify syndromes with common features and provide the location or mapping limits and function of responsible genes.
Download or read book Advances in X Linked Mental Retardation Research and Treatment 2013 Edition written by and published by ScholarlyEditions. This book was released on 2013-06-21 with total page 45 pages. Available in PDF, EPUB and Kindle. Book excerpt: Advances in X-Linked Mental Retardation Research and Treatment: 2013 Edition is a ScholarlyPaper™ that delivers timely, authoritative, and intensively focused information about ZZZAdditional Research in a compact format. The editors have built Advances in X-Linked Mental Retardation Research and Treatment: 2013 Edition on the vast information databases of ScholarlyNews.™ You can expect the information about ZZZAdditional Research in this book to be deeper than what you can access anywhere else, as well as consistently reliable, authoritative, informed, and relevant. The content of Advances in X-Linked Mental Retardation Research and Treatment: 2013 Edition has been produced by the world’s leading scientists, engineers, analysts, research institutions, and companies. All of the content is from peer-reviewed sources, and all of it is written, assembled, and edited by the editors at ScholarlyEditions™ and available exclusively from us. You now have a source you can cite with authority, confidence, and credibility. More information is available at http://www.ScholarlyEditions.com/.
Download or read book X linked Mental Retardation written by Roger E. Stevenson and published by . This book was released on 2000 with total page 450 pages. Available in PDF, EPUB and Kindle. Book excerpt: This is a comprehensive and up-to-date survey of mental retardation caused by genes on the X chromosome. Clinical and laboratory data on 130 syndromes are presented in a concise and consistent manner. Each syndrome is defined and information is provided on somatic features, growth and development, neurological signs, cognitive performance, imaging and other laboratory findings, and when possible, the nature and localization of the responsible gene. Craniofacial and other somatic findings are extensively illustrated. A differential matrix accompanies each syndrome description to assist the reader in identifying other X-linked syndromes with overlapping features. As background, the X chromosome and the emergence of the concept of X-linked mental retardation are discussed. X-chromosome maps show the location and mapping limits of the responsible genes. The authors have extensive experience in the clinical and laboratory delineation of X-linked mental retardation. They have described new syndromes, regionally mapped disease loci on the X chromosome, and in several cases isolated the genes responsible for X-linked syndromes.
Download or read book Atlas of Genodermatoses written by Ruggero Caputo and published by CRC Press. This book was released on 2005-12-12 with total page 448 pages. Available in PDF, EPUB and Kindle. Book excerpt: A lavishly illustrated guide to almost 200 inherited diseases of the skin, hair, and nails. Each entry includes synonyms, age of onset, clinical findings, complications, course, laboratory findings, diagnosis, therapy, and key references, adding up to far more than just a collection of photographs. In addition to being a clinical primer, this is also a work of scientific research and contains the first printed description of two new syndromes. The fast-moving world of genetic research means that the latest genetic correlations, included here, render previous texts out of date. All specialists in Dermatology and Pediatrics should find this an invaluable front-line resource in the clinic.
Download or read book Intellectual Disability written by James C. Harris, M.D. and published by Oxford University Press. This book was released on 2010-06-24 with total page 237 pages. Available in PDF, EPUB and Kindle. Book excerpt: Approximately 2.5 million people in the United States--one percent of the population--have an intellectual disability (previously referred to as mental retardation). These conditions range from genetic disorders such as Down syndrome to disabilities caused by infectious diseases and brain injury. Intellectual Disability: A Guide for Families and Professionals, by one of the country's foremost authorities on intellectual disability, is a comprehensive resource that will be of importance to anyone with a personal connection to a child or adult with a neurodevelopmental disorder. Emphasizing the humanity of persons with intellectual and related developmental disabilities, psychiatrist and pediatrician James Harris provides essential information on assessment and diagnosis of intellectual disability, treatments for specific disorders, and ways to take advantage of the wide array of services available today. The focus throughout is on the development of the person, the positive supports necessary for self-determination, and, to the extent possible, independent decision making. Harris also surveys historical attitudes toward intellectual disability, the medical community's current understanding of its causes and frequency, and the associated physical, behavioral, and psychiatric conditions (such as seizure disorder, depression, and autism) that often accompany particular types of intellectual disability. The book addresses legal, medical, mental health, and research-related issues as well as matters of spirituality, highlighting the ways in which individuals with intellectual disability can meaningfully participate in the spiritual lives of their families and their communities. Each chapter ends with a series of key points to remember, and the book concludes with a list of additional resources of further interest. Intellectual Disability is a must-read for parents and families of those with neurodevelopmental disorders, providing guidance and essential information to help their family members effectively, and to make a significant, positive difference in their lives now and in the future.
Download or read book Intellectual Disabilities written by J. A. Rondal and published by . This book was released on 2004-03-12 with total page 228 pages. Available in PDF, EPUB and Kindle. Book excerpt: Advances in biobehavioural sciences are bringing important changes in the field of intellectual disabilities. Of particular interest is the description of particular behavioural phenotypes related to but distinct from genotypes, and the extent to which they are specific. In this text, more than 20 particular genetic syndromes with marked levels of intellectual disability are identified and described from a variety of points of view, including cognitive, language, behavioural, adaptive and social and community inclusion aspects. Readers should better understand genetic intellectual disabilities and how they affect individual behaviours. Researchers and practitioners, including mental health professionals, speech-language therapists, special educators and social workers, should learn considerably more about actively researched syndromes such as Down, Williams, Fragile-X, Prader-Willi, Angelman, Rett, 5-p (Cri-du-chat), Noonan and several others, and obtain the evidence-based information they need to improve developmental, educational, occupational and residential situations, favouring inclusion for the people with intellectual disability syndromes.
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 Arthrogryposis written by Lynn T. Staheli and published by Cambridge University Press. This book was released on 1998-04-28 with total page 302 pages. Available in PDF, EPUB and Kindle. Book excerpt: The term arthrogryposis describes a range of congenital contractures that lead to childhood deformities. It encompasses a number of syndromes and sporadic deformities that are rare individually but collectively are not uncommon. Yet, the existing medical literature on arthrogryposis is sparse and often confusing. The aim of this book is to provide individuals affected with arthrogryposis, their families, and health care professionals with a helpful guide to better understand the condition and its therapy. With this goal in mind, the editors have taken great care to ensure that the presentation of complex clinical information is at once scientifically accurate, patient oriented, and accessible to readers without a medical background. The book is authored primarily by members of the medical staff of the Arthrogryposis Clinic at Children's Hospital and Medical Center in Seattle, Washington, one of the leading teams in the management of the condition, and will be an invaluable resource for both health care professionals and families of affected individuals.
Download or read book Neuronal and Synaptic Dysfunction in Autism Spectrum Disorder and Intellectual Disability written by Carlo Sala and published by Academic Press. This book was released on 2016-04-30 with total page 396 pages. Available in PDF, EPUB and Kindle. Book excerpt: Neuronal and Synaptic Dysfunction in Autism Spectrum Disorder and Intellectual Disability provides the latest information on Autism spectrum disorders (ASDs), the lifelong neurodevelopmental disorders that present in early childhood and affect how individuals communicate and relate to others and their surroundings. In addition, three quarters of ASD patients also manifest severe intellectual disability. Though certain genes have been implicated, ASDs remain largely a mystery, and research looking into causes and cellular deficits are crucial for better understanding of neurodevelopmental disorders. Despite the prevalence and insidious nature of this disorder, this book remains to be an extensive resource of information and background on the state of current research in the field. The book serves as a reference for this purpose, and discusses the crucial role synaptic activity plays in proper brain function. In addition, the volume discusses the neurodevelopmental synaptopathies and serves as a resource for scientists and clinicians in all biomedical science specialties. This research has been crucial for recent studies that have provided a rationale for the development of pharmacological agents able to counteract functional synaptic anomalies and potentially ameliorate some ASD symptoms. Introduces the genetic and non-genetic causes of autism and associated intellectual disabilities Describes the genes implicated in autistic spectrum disorders and their function Considers major individual genetic causes of autism, Rett syndrome, Fragile X syndrome, and other autism spectrum disorders, as well as their classification as synaptopathies Presents a thorough discussion of the clinical aspects of multiple neurodevelopmental disorders and the experimental models that exist to study their pathophysiology in vitro and in vivo, including animal models and patient-derived stem cell culture
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 A Video Atlas of Neuromuscular Disorders written by Aziz Shaibani and published by Oxford University Press. This book was released on 2014-09-25 with total page 304 pages. Available in PDF, EPUB and Kindle. Book excerpt: The first real cases video atlas of neuromuscular disorders that is supplemented with multiple-choice questions, and updates on the illustrated topics. It is easy to search and read. It is perfect for preparation to the neurology and neuromuscular boards and an excellent way to update the experts. By replacing the descriptive text with vivid illustrative videos, the reader will have more time to face the intellectual challenges of these cases instead of trying to build a mental picture of these cases first. Short and well-edited video clips from real clinic stories supplemented with challenging multiple choice questions, provides an excellent way to bridge the gap between overflow of information and short attention span. The chapters are arranged according the symptoms instead of diseases, yet, diseases are listed in the index if one wants to see all videos relevant to a specific disease. Close to 300 video cases* taken directly from a real neuromuscular clinic, illustrating a myriad of disorders and shedding light on their diagnosis, and treatment and giving updates about many of them provides an invaluable approach that should benefit any one who is interested in neuromuscular disorders which comprises more than 50% of presenting disease to general neurologists and even to general practitioners. Some rare diseases are also described, giving an opportunity for the new trainees to see them so that they can diagnosed them if they see them again which may not happen very often. *Due to size limitations, the videos are not included with any eBook version.
Download or read book Molecular Neuropathology written by Gareth W. Roberts and published by Cambridge University Press. This book was released on 1995-06-08 with total page 204 pages. Available in PDF, EPUB and Kindle. Book excerpt: This volume provides an introduction to the essential techniques required for studying the molecular biology of brain disease. The approaches and strategies for investigations of gene structure and regulation are described with reference to the molecular genetics of prion and Alzheimer's disease. The effects of aberrant gene regulation can also be examined at the protein level by immunocytochemistry and autoradiography. Improved understanding of basic biology has resulted in new approaches to animal models using transgenic techniques and new therapeutic approaches. The volume is structured to illustrate all these approaches and demonstrate the practice and promise of molecular neuropathology.
Download or read book Ehlers Danlos Syndrome A Multidisciplinary Approach written by J.W.G. Jacobs and published by IOS Press. This book was released on 2018-08-14 with total page 370 pages. Available in PDF, EPUB and Kindle. Book excerpt: Generalized hypermobility has been known since ancient times, and a clinical description of Ehlers-Danlos syndrome (EDS) is said to have first been recorded by Hippocrates in 400 BC. Hypermobility syndromes occur frequently, but the wide spectrum of possible symptoms, coupled with a relative lack of awareness and recognition, are the reason that they are frequently not recognized, or remain undiagnosed. This book is an international, multidisciplinary guide to hypermobility syndromes, and EDS in particular. It aims to create better awareness of hypermobility syndromes among health professionals, including medical specialists, and to be a guide to the management of such syndromes for patients and practitioners. It is intended for use in daily clinical practice rather than as a reference book for research or the latest developments, and has been written to be understandable for any healthcare worker or educated patient without compromise to the scientific content. The book is organized as follows: chapters on classifications and genetics are followed by chapters on individual types, organ (system) manifestations and complications, and finally ethics and therapeutic strategies, with an appendix on surgery and the precautions which should attend it. A special effort has been made to take account of the perspective of the patient; two of the editors have EDS. The book will be of interest to patients with hypermobility syndromes and their families, as well as to all those healthcare practitioners who may encounter such syndromes in the course of their work.
Download or read book Handbook of Developmental Disabilities written by Samuel L. Odom and published by Guilford Press. This book was released on 2009-01-21 with total page 673 pages. Available in PDF, EPUB and Kindle. Book excerpt: This authoritative handbook reviews the breadth of current knowledge about developmental disabilities: neuroscientific and genetic foundations; the impact on health, learning, and behavior; and effective educational and clinical practices. Leading authorities analyze what works in intervening with diverse children and families, from infancy through the school years and the transition to adulthood. Chapters present established and emerging approaches to promoting communication and language abilities, academic skills, positive social relationships, and vocational and independent living skills. Current practices in positive behavior support are discussed, as are strategies for supporting family adaptation and resilience.
Download or read book Neurological Psychiatric and Developmental Disorders written by Institute of Medicine and published by National Academies Press. This book was released on 2001-01-01 with total page 458 pages. Available in PDF, EPUB and Kindle. Book excerpt: Brain disordersâ€"neurological, psychiatric, and developmentalâ€"now affect at least 250 million people in the developing world, and this number is expected to rise as life expectancy increases. Yet public and private health systems in developing countries have paid relatively little attention to brain disorders. The negative attitudes, prejudice, and stigma that often surround many of these disorders have contributed to this neglect. Lacking proper diagnosis and treatment, millions of individual lives are lost to disability and death. Such conditions exact both personal and economic costs on families, communities, and nations. The report describes the causes and risk factors associated with brain disorders. It focuses on six representative brain disorders that are prevalent in developing countries: developmental disabilities, epilepsy, schizophrenia, bipolar disorder, depression, and stroke. The report makes detailed recommendations of ways to reduce the toll exacted by these six disorders. In broader strokes, the report also proposes six major strategies toward reducing the overall burden of brain disorders in the developing world.
Download or read book Color Atlas of Oral Diseases written by George Laskaris and published by Thieme. This book was released on 1994 with total page 396 pages. Available in PDF, EPUB and Kindle. Book excerpt: For the third edition, the text has been thoroughly revised to keep pace with new concepts in oral medicine. The structure of the text has been clarified and made more practically useful, with references to etiology, clinical images, differential diagnosis, laboratory diagnostic tests, and therapy guidelines. Also new in the third edition: four new chapters, and more than 240 new, exquisite illustrations of lesions and pathologic conditions affecting the oral cavity.
Download or read book Bone Dysplasias written by Jürgen W. Spranger and published by Oxford University Press. This book was released on 2018-10-25 with total page 976 pages. Available in PDF, EPUB and Kindle. Book excerpt: The definitive guide to genetic bone disorders, now revised and expanded with glossy photographs and radiographs "Brilliantly written and produced and deserves to be on the shelves of all pediatric radiologists. It should also be available to geneticists, counselors, and pediatricians." --Radiology This updated and expanded fourth edition of Bone Dysplasias presents age-related radiographs, photographs and clinical guidelines for more than 250 rare constitutional skeletal diseases. Focusing on diagnostically essential imaging and clinical features, each chapter is supplemented with prognostic and therapeutic information, a guide to differential diagnoses, and a short list of the most relevant publications. Organized in accordance with the most recent International Nosology and Classification of Genetic Skeletal Disorders, this new Bone Dysplasias distills the insights of a small, world-class author team on diagnosis and clinical approaches to this most difficult class of disorders.
