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Rett Disorder and the Developing Brain

Rett Disorder and the Developing Brain PDF Author: Alison Kerr
Publisher:
ISBN:
Category : Medical
Languages : en
Pages : 412

Book Description
Rett disorder, first described by Andreas Rett in 1966, is a condition which involves the functions on which intelligence and expression depend. It is probably the most common genetic disorder encountered in profoundly intellectually disabled females. Its many manifestations include epilepsy, scoliosis, nutritional difficulties, and disorders of mood and movement. This book provides an up-to-date account of current research into the disorder at a time when the causative mutations have just been discovered on the MeCP2 gene. The first section of the book presents the clinical signs and the latest research into the genetic, neuro- anatomical and neuro-chemical aspects of Rett disorder. The second section moves on to deal with the neuro-physiological research, concentrating on the autonomic system, which is deeply implicated in the disease mechanisms. The final section of the book examines the behavioural and psychological features of Rett disorder and discusses issues relating to communication. The chapters are written by a distinguished, international team of experts, all currently active in research. The contributions bring our understanding of the Rett disorder right up-to-date, as the study of the condition moves from an era of description into a time when there are real possibilities for beneficial interventions.

Rett Disorder and the Developing Brain

Rett Disorder and the Developing Brain PDF Author: Alison Kerr
Publisher:
ISBN:
Category : Medical
Languages : en
Pages : 412

Book Description
Rett disorder, first described by Andreas Rett in 1966, is a condition which involves the functions on which intelligence and expression depend. It is probably the most common genetic disorder encountered in profoundly intellectually disabled females. Its many manifestations include epilepsy, scoliosis, nutritional difficulties, and disorders of mood and movement. This book provides an up-to-date account of current research into the disorder at a time when the causative mutations have just been discovered on the MeCP2 gene. The first section of the book presents the clinical signs and the latest research into the genetic, neuro- anatomical and neuro-chemical aspects of Rett disorder. The second section moves on to deal with the neuro-physiological research, concentrating on the autonomic system, which is deeply implicated in the disease mechanisms. The final section of the book examines the behavioural and psychological features of Rett disorder and discusses issues relating to communication. The chapters are written by a distinguished, international team of experts, all currently active in research. The contributions bring our understanding of the Rett disorder right up-to-date, as the study of the condition moves from an era of description into a time when there are real possibilities for beneficial interventions.

Neuronal and Synaptic Dysfunction in Autism Spectrum Disorder and Intellectual Disability

Neuronal and Synaptic Dysfunction in Autism Spectrum Disorder and Intellectual Disability PDF Author: Carlo Sala
Publisher: Academic Press
ISBN: 0128005335
Category : Medical
Languages : en
Pages : 396

Book Description
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

Progressive Brain Disorders in Childhood

Progressive Brain Disorders in Childhood PDF Author: Juan M. Pascual
Publisher: Cambridge University Press
ISBN: 1107042054
Category : Medical
Languages : en
Pages : 507

Book Description
A review of childhood neurodegenerative and other progressive but non-degenerative disorders to guide their diagnosis and management.

Cassidy and Allanson's Management of Genetic Syndromes

Cassidy and Allanson's Management of Genetic Syndromes PDF Author: John C. Carey
Publisher: John Wiley & Sons
ISBN: 1119432677
Category : Science
Languages : en
Pages : 1104

Book Description
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.

Imaging of the Human Brain in Health and Disease

Imaging of the Human Brain in Health and Disease PDF Author: Philip Seeman
Publisher: Elsevier
ISBN: 012418684X
Category : Science
Languages : en
Pages : 534

Book Description
Brain imaging technology remains at the forefront of advances in both our understanding of the brain and our ability to diagnose and treat brain disease and disorders. Imaging of the Human Brain in Health and Disease examines the localization of neurotransmitter receptors in the nervous system of normal, healthy humans and compares that with humans who are suffering from various neurologic diseases. Opening chapters introduce the basic science of imaging neurotransmitters, including sigma, acetylcholine, opioid, and dopamine receptors. Imaging the healthy and diseased brain includes brain imaging of anger, pain, autism, the release of dopamine, the impact of cannabinoids, and Alzheimer's disease. This book is a valuable companion to a wide range of scholars, students, and researchers in neuroscience, clinical neurology, and psychiatry, and provides a detailed introduction to the application of advanced imaging to the treatment of brain disorders and disease. - A focused introduction to imaging healthy and diseased brains - Focuses on the primary neurotransmitter release - Includes sigma, acetylcholine, opioid, and dopamine receptors - Presents the imaging of healthy and diseased brains via anger, pain, autism, and Alzheimer's disease

Neurodevelopmental Disorders

Neurodevelopmental Disorders PDF Author: Bin Chen
Publisher: Academic Press
ISBN: 0128144106
Category : Medical
Languages : en
Pages : 428

Book Description
Neurodevelopmental Disorders, the latest release in the Comprehensive Developmental Neuroscience series, presents the most thorough coverage available, addressing all aspects on how the nervous system and its components develop. This book brings together the latest research in this rapidly evolving field, with section editors discussing the technological advances that are enabling the pursuit of new research on brain development. This volume focuses on neurodevelopmental disorders in humans and experimental organisms. Particular attention is paid to the effects of abnormal development and on new psychiatric/neurological treatments being developed based on our increased understanding of developmental mechanisms. - Features leading experts in various subfields as section editors and article authors - Presents articles that have been peer reviewed to ensure accuracy, thoroughness and scholarship - Covers disorders of the nervous system that arise through defects in neural development

Treatment of Neurodevelopmental Disorders

Treatment of Neurodevelopmental Disorders PDF Author: Randi Jenssen Hagerman
Publisher: Oxford University Press, USA
ISBN: 019993780X
Category : Medical
Languages : en
Pages : 401

Book Description
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 and new targeted treatments based on the latest advances in neurobiology and the animal model studies that have lead to new treatments. The disorders covered include psychiatric disorders: schizophrenia, depression, autism and ADHD; single gene disorders including Tuberous Sclerosis, Fragile X Syndrome and fragile X- associated disorders, Angelman Syndrome, PKU, and Muscular Dystrophies; and complex genetic disorders such as Down syndrome. This book also highlights the commonalities across disorders and new genetic and molecular concepts in an easy to read format. This is a very exciting time for new targeted treatments and this volume is a landmark treatise on this new age of treatment.

Cognitive Plasticity in Neurologic Disorders

Cognitive Plasticity in Neurologic Disorders PDF Author: Joseph I. Tracy
Publisher: Oxford University Press, USA
ISBN: 0199965242
Category : Medical
Languages : en
Pages : 433

Book Description
This volume makes clear that the cognitive and behavioural symptoms of neurologic disorders and syndromes are dynamic and changing. Each chapter describes the neuroplastic processes at work in a particular condition, giving rise to these ongoing cognitive changes.

Autism Spectrum Disorders

Autism Spectrum Disorders PDF Author: Andreas M. Grabrucker
Publisher:
ISBN:
Category :
Languages : en
Pages : 117

Book Description
Autism spectrum disorders are developmental disorders. Individuals with autism spectrum disorders develop differently. These differences are usually present in social interaction, communication, and sensory processing, and become visible through a wide variety of behavioral responses that differ from individuals without autism spectrum disorders. Despite significant research efforts, the exact causes of autism spectrum disorders remain poorly understood; however, researchers have gained extensive insights into possible pathomechanisms, even at the molecular level of cells. Many diagnostic criteria have been developed, adapted, and improved. The eight chapters in this book highlight the current state-of-the-art in many areas of autism spectrum disorders. Chapter 1 provides an overview of the epidemiology of autism spectrum disorders and the current knowledge of the underlying pathogenic mechanisms. Chapter 2 summarizes the diagnostic criteria and procedures and highlights present and upcoming therapeutic strategies. Chapter 3 reviews the adverse events and trauma in people with autism spectrum disorders. Chapters 4 and 5 focus on atypical sensory processing, and Chapter 6 discusses the genetic overlap of autism spectrum disorders with other neuropsychiatric disorders such as attention deficit hyperactivity disorder (ADHD), depression, and schizophrenia. Chapter 7 focuses on the contribution of abnormalities in mitochondria, and chapter 8 discusses gut-brain interactions and a potential role for microbiota in autism spectrum disorders. This book is aimed primarily at clinicians and scientists, but many areas will also be of interest to the layperson.

Child and Adolescent Psychiatry

Child and Adolescent Psychiatry PDF Author: Savita Malhotra
Publisher: Springer
ISBN: 813223619X
Category : Psychology
Languages : en
Pages : 498

Book Description
This is a comprehensive volume on issues and concerns relating to child and adolescent mental health in Asia, which includes contributions from experts in child psychiatry from Asia and other parts of the world. The chapters provide accurate and detailed accounts of the current state of knowledge integrating research approaches and findings from clinical studies. Each chapter discusses existing information, emphasizes areas of growth and provides fresh insights on a particular topic especially as these might relate to Asian populations. The book integrates various clinical and scientific perspectives on psychiatric disorders in children and adolescents with a focus on Asia. The various sections deal with important topics in child and adolescent psychiatry: the current understanding of mental disorders and the ways in which possible influences might work in the development of psychopathology; substance use disorders, their neurobiological correlates and implications for the developing brain; early environmental influences in the psychopathology of psychiatric disorders in children; issues of parenting, child rearing and cultural practices in Asia, which influence personality development and adaptation; life-long impact of early parental loss; early diagnosis and intervention in recognizing and treating psychopathology; psychopharmacology of neurodevelopmental disorders in children; non-pharmacological treatments for children; mental health gap, and telepsychiatry as an innovative model to provide services for children; and a pressing need for a comprehensive child mental health policy across nations.