The Impact Of Awareness Of Deficits On Emotional Status In Fragile X Associated Tremor Ataxia Syndrome Fxtas

Epigenetics in Psychiatry, Second Edition covers all major areas of psychiatry in which extensive epigenetic research has been performed, fully encompassing a diverse and maturing field, including drug addiction, bipolar disorder, epidemiology, cognitive disorders, and the uses of putative epigenetic-based psychotropic drugs. Uniquely, each chapter correlates epigenetics with relevant advances across genomics, transcriptomics, and proteomics. The book acts as a catalyst for further research in this growing area of psychiatry. This new edition has been fully revised to address recent advances in epigenetic understanding of psychiatric disorders, evoking data consortia (e.g., CommonMind, ATAC-seq), single cell analysis, and epigenome-wide association studies to empower new research. The book also examines epigenetic effects of the microbiome on psychiatric disorders, and the use of neuroimaging in studying the role of epigenetic mechanisms of gene expression. Ongoing advances in epigenetic therapy are explored in-depth. Fully revised to discuss new areas of research across neuronal stem cells, cognitive disorders, and transgenerational epigenetics in psychiatric disease Relates broad advances in psychiatric epigenetics to a modern understanding of the genome, transcriptome, and proteins Catalyzes knowledge discovery in both basic epigenetic biology and epigenetic targets for drug discovery Provides guidance in research methods and protocols, as well how to employ data from consortia, single cell analysis, and epigenome-wide association studies (EWAS) Features chapter contributions from international leaders in the field

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

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

A timely distillation of current thinking on the presentation of behavioural disorders and their origins.

Infancy is a unique period, in that at no other state is there greater growth and development. During this time, growth is occurring at a physical level, but equally impressive are the socio-emotional and cognitive developments during this time. Genetics, the womb environment, and the physical environment after birth all combine to impact the rate and manner of growth. Who we ultimately become as individuals begins here. Intended for university and public libraries, the Encyclopedia of Infant and Early Childhood Development is the major reference work that provides a comprehensive entry point into all of the existing literature on child development from the fields of psychology, genetics, neuroscience, and sociology. The scope of this work is to understand the developmental changes, when they occur, why they occur, how they occur, and those factors that influence that development. Although some medical information is included, the emphasis is on normal growth and is primarily from a psychological perspective. Cutting edge content will encompass the period of time from neo-nates to age three Award-winning Editors-in-Chief to ensure authoritative quality Organized alphabetically by topic for ease of reference Each article will include a glossary defining any unique terms Suggested readings at the end of each article provide a resource for additional information Extensively cross-referenced within the work to enable reader access to full and relevant information related to their interests Online availability via ScienceDirect platform

Pediatric Neurology for the Oral Boards: A Case-Based Review is the first pediatric neurology review book written specifically for neurology residents preparing for the oral boards. The book presents sixty cases with discussions structured according to the neurology oral boards format: localization of neurologic findings; differential diagnosis and most likely diagnosis; diagnostic workup; and patient management. The cases will help readers lay a foundation of knowledge in pediatric neurology and develop an organized approach to clinical decision-making. An introduction explains in detail what to expect on the examination and gives helpful hints on preparing for and taking the exam.

"There is an apocryphal story of an eminent neurology professor who was asked to provide a differential diagnosis. He allegedly quipped: "I can't give you a differential diagnosis. If you wish I will give you a list of wrong diagnoses followed by the right diagnosis." Sadly, this sort of arrogance pervaded our field, particularly in the era before there were accurate diagnostic methods and effective treatments of neurological diseases. Fortunately, this sort of pomposity is now relegated to the past and remains only as an antique reminder of a type of hubris that precluded discovery and progress in diseases of the nervous system"--

In this book a group of international experts guide the reader through the clinical features of adults with autism spectrum disorders, describe the care needs of patients and their families, explain the evolution of the disorders into old age, and highlight what can be done to help. Detailed attention is paid to the medical and psychiatric problems of adults with these disorders and the approach to their education and professional integration. In addition, expert neuroscientists summarize current views on the neurobiology of autism. Autism spectrum disorders are devastating neurodevelopmental disorders. Although diagnosis and therapeutic interventions usually take place in infancy, they are chronic lifelong conditions. Surprisingly, the literature on autism spectrum disorders in adults is scarce. Moreover, most mental health professionals working with adults have little training in autism, and adult mental health services around the world are rarely prepared to address the needs of these patients, which tend to increase with age. This book therefore fills a crucial gap in the literature and will prove useful for all who care for and deal with adults in the Autistic Spectrum.