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In Fragile X-Associated Tremor Ataxia Syndrome (FXTAS), the editors present information on all aspects of FXTAS, including clinical features and current supportive management, radiological, psychological, and pathological findings, genotype-phenotype relationships, animal models and basic molecular mechanisms. Genetic counseling issues are also discussed. The book should serve as a resource for professionals in all fields regarding diagnosis, management, and counseling of patients with FXTAS and their families, as well as presenting the molecular basis for disease that may lead to the identification of new markers to predict disease risk and eventually lead to target treatments.
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.
This book should serve as a resource for professionals in all fields regarding diagnosis, management, and counseling of patients with FXTAS, FXPOI and their families, as well as presenting the molecular basis for disease that may lead to the identification of new markers to predict disease risk and eventually lead to target treatments. The book will present information on all aspects of FXTAS, FXPOI and other premutation disorders including clinical features and current supportive management, radiological, psychological, and pathological findings, genotype-phenotype relationships, animal models and basic molecular mechanisms. Genetic counseling issues are also discussed.
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...
Fragile X Syndrome: From Genetics to Targeted Treatment provides a structured overview of the molecular and clinical background of the disorder as well as treatment options. The book discusses the detailed molecular information on each of the pathways involved with sufficient details for all whose research touches this pathway. It provides a state-of-the-art update on all clinical aspects associated with this syndrome, including phenotype, diagnostics and epidemiology. It also includes an overview of the lessons learned from the preclinical research and pioneering trials on the fragile X syndrome for the investigators involved in clinical trials of neurodevelopmental disorders. This book is ...
Executive function refers to the goal-oriented regulation of one’s own thoughts, actions, and emotions. Its importance is attested by its contribution to the development of other cognitive skills (e.g., theory of mind), social abilities (e.g., peer interactions), and academic achievement (e.g., mathematics), and by the consequences of deficits in executive function (which are observed in wide range of developmental disorders, such as attention-deficit hyperactivity disorder and autism). Over the last decade, there have been growing interest in the development of executive function, and an expanding body of research has shown that executive function develops rapidly during the preschool yea...
This Research Topic has the aim to fill the gap of the many unresolved scientific issues on Autism Spectrum Disorders (ASD) that are still in need of investigation, Targeted treatments based on the understanding of the underlying pathogenic mechanisms of disease are still lacking. Further research is awaited and should be obtained through a significant effort on experimental treatment trials and neuroscience research. This Topic is divided in two main sections, one covering clinical issues and another on basic neurosciences of Autism Spectrum Disorders. A more detailed description of the contents of the articles is provided in the editorial at the beginning of the issue.
Historically, cognitive sciences have considered selective attention and working memory as largely separated cognitive functions. That is, selective attention as a concept is typically reserved for the processes that allow for the prioritization of specific sensory input, while working memory entails more central structures for maintaining (and operating on) temporary mental representations. However, over the last decades various observations have been reported that question such sharp distinction. Most importantly, information stored in working memory has been shown to modulate selective attention processing – and vice versa. At the theoretical level, these observations are paralleled by ...
Behavior and Culture in One Dimension adopts a broad interdisciplinary approach, presenting a unified theory of sequences and their functions and an overview of how they underpin the evolution of complexity. Sequences of DNA guide the functioning of the living world, sequences of speech and writing choreograph the intricacies of human culture, and sequences of code oversee the operation of our literate technological civilization. These linear patterns function under their own rules, which have never been fully explored. It is time for them to get their due. This book explores the one-dimensional sequences that orchestrate the structure and behavior of our three-dimensional habitat. Using Gib...
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...