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This book covers both molecular and clinical aspects of Fragile X Syndrome (FXS) and premutation disorders so that new targeted treatments can be understood by clinicians and parents.
This cutting-edge book brings advances in genetics, neurobiology, and psychopharmacology to the clinic to enhance treatment for neurodevelopmental disorders. Significant progress has been made in identifying the neurobiological mechanisms of several disorders and targeted treatments are modifying the outcome of these disorders. However, the ability to utilize this knowledge has not been summarized in one place for the practicing clinician. This book will fill that gap by providing the theoretical underpinnings and the latest advances in targeted treatments. Several neurodevelopmental disorders are reviewed in detail including clinical features and behavioral phenotypes, standard treatments a...
Fragile X syndrome is the most common inherited form of mental retardation. Revised for its third edition, this book discusses the clinical approach to diagnosing the disorder, supported by current research, and presents information on treatment.
A tiny mutation on the X chromosome can shape a family’s history. Passed down from a “carrier” parent to a child, fragile X syndrome is the most common inherited cause of intellectual disability and autism. Beyond that—and a rarity among genetic disorders—some fragile X carriers not only transmit the mutation but also experience related conditions themselves. In such cases, carriers can have tremors, infertility, and psychiatric disorders that complicate raising children with fragile X syndrome—and all too often, they suffer in silence. The Carriers investigates this common but still little-known genetic condition and its life-altering consequences. Anne Skomorowsky reveals how t...
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 routin...
Neurodevelopmental Disorders: Diagnosis and Treatment summarizes a vast body of literature concerning diagnosis and treatment for a variety of neurodevelopmental disorders, including both common and rare conditions. Throughout the book, Dr. Hagerman synthesizes treatment information for many disciplines that work together to provide multi-modality intervention. Psychopharmacological information and recommendations as well as the latest knowledge regarding genetic and diagnostic aspects of each disorder are explained in detail. And all chapters have one or more case studies to model the treatment recommendations, which are enhanced by extensive appendices reviewing educational programs, computer software, and supplementary reading. In addition, a detailed resource list of organizations, educational materials, and internet connections accompanies each chapter. This book not only integrates but also advances our knowledge of treatment, which is of prime importance for clinicians, therapists, educators, and parents.
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 diagn...
This new edition of Fragile X Syndrome includes updated information on the latest research findings -- especially in molecular biology -- as well as new photographs highlighting clinical features and thorough coverage of treatment and intervention, diagnosis, and research. Praise for the first edition: "Answers nearly all the questions that parents or clinicians might raise about fragile X syndrome....Can be recommended confidently as a thoroughly up-to-date, reliable, and informative account of the condition." -- Lancet "The clinical and cytogenetic material in this book is excellent and provides a strong background for physicians and students... Fragile X Syndrome still presents the best comprehensive treatment of this complex disorder. Physicians, students, and other interested professionals can either read this book from cover to cover or select the chapters that interest or apply to them." -- New England Journal of Medicine
Autism and Other Neurodevelopmental Disorders gathers and organizes the most recent information in this important and rapidly expanding field into a clinically useful volume that will enable clinicians, patients, and families to understand these disorders and make sound treatment decisions in light of recent research. The editors, as well as most of the chapter authors, are faculty or former trainees at the prestigious Medical Investigation of Neurodevelopmental Disorders (MIND) Institute at UC-Davis, a collaborative international research center committed to the awareness, understanding, prevention, care, and cure of neurodevelopmental disorders, including autism spectrum disorders, ADHD, learning disorders, and more. Each chapter presents signs and symptoms; epidemiology and etiology; diagnostic approaches; evidence based interventions; and reviews of promising research. By focusing on the range of neurodevelopmental disorders commonly seen and managed by both primary and subspecialist health care professionals. Autism and Other Neurodevelopmental Disorders explains cutting-edge research and advances in clinical care, and assembles them into a single, indispensable volume.
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.