Author: Barbro Lindberg
Publisher: Hogrefe Publishing
ISBN:
Category : Medical
Languages : en
Pages : 218
Book Description
Barbro Lindberg describes the difficulties and challenges of girls and women with Rett Syndrome and proposes solutions that can help them in everyday life.
Understanding Rett Syndrome
Cassidy and Allanson's Management of Genetic Syndromes
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.
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.
The Rett Syndrome
Author: John M. Opitz
Publisher:
ISBN:
Category : Intellectual disability
Languages : en
Pages : 422
Book Description
Publisher:
ISBN:
Category : Intellectual disability
Languages : en
Pages : 422
Book Description
Neuronal and Synaptic Dysfunction in Autism Spectrum Disorder and Intellectual Disability
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
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
Treatment of Neurodevelopmental Disorders
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.
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.
Healthcare for Children on the Autism Spectrum
Author: Fred R. Volkmar
Publisher:
ISBN: 9780933149977
Category : Autism spectrum disorders
Languages : en
Pages : 0
Book Description
Although children with an ASD disorder can be as healthy as other children, keeping them that way can be a challenge. Autism experts offer parents information for dealing with these challenges and understanding on what's most important to their child's medical, nutritional, and behavioural well-being.
Publisher:
ISBN: 9780933149977
Category : Autism spectrum disorders
Languages : en
Pages : 0
Book Description
Although children with an ASD disorder can be as healthy as other children, keeping them that way can be a challenge. Autism experts offer parents information for dealing with these challenges and understanding on what's most important to their child's medical, nutritional, and behavioural well-being.
The Newborn Sleep Book
Author: Lewis Jassey
Publisher: Penguin
ISBN: 0698147944
Category : Family & Relationships
Languages : en
Pages : 130
Book Description
Developed and refined by two successful pediatricians, the "Jassey Way" boasts more than a 90% success rate of getting children to sleep through the night in their first 4 weeks of life. A safe and proven technique, the Jassey Way uses a feeding schedule that allows newborns (and their parents) a full night's sleep at a younger age than other sleep training techniques.
Publisher: Penguin
ISBN: 0698147944
Category : Family & Relationships
Languages : en
Pages : 130
Book Description
Developed and refined by two successful pediatricians, the "Jassey Way" boasts more than a 90% success rate of getting children to sleep through the night in their first 4 weeks of life. A safe and proven technique, the Jassey Way uses a feeding schedule that allows newborns (and their parents) a full night's sleep at a younger age than other sleep training techniques.
A Practical Guide to Autism
Author: Fred R. Volkmar
Publisher: John Wiley & Sons
ISBN: 0470394730
Category : Family & Relationships
Languages : en
Pages : 624
Book Description
Autism is in the public spotlight now more than ever as new research and information appears almost daily. Although in many ways this is a positive development it also presents challenges to families and practitioners who want to keep up with the latest developments and are left to sift through new information by themselves to see what is credible and relevant for them.Each of us needs a personal research assistant who can determine which information we need to pay attention to and let us know how it might affect our daily work and the children we are living with or serve. Since we each don’t have our own research assistants on staff, I am delighted to recommend this wonderful book by Fred Volkmar and Lisa Wiesner. Both of these talented professional leaders have combined their scientific skills and understanding of the field with great practical experience and ideas about how research can be translated into clinical practice. The result is a book that provides the best and most comprehensive information about recent scientific developments and a splendid practical guide for how they are being implemented and what we are learning in the process. The issues are presented in all of their complexity but translated into language that is clear, direct, and easy to follow. The format also lends itself to understanding the complex issues and their implications through excellent charts, question and answer sections, and chapters that vary from describing diagnostic issues to stating very specifically how to expand and evaluate the services one is receiving. The comprehensive references and lists of additional resources also add greatly to the overall package. As a professional dedicated to understanding scientific advances and helping families and teachers to utilize them most effectively, I am very pleased to have an ally like this book available. I am very grateful to the authors for providing a very credible, practical, and relevant addition to our field to help the many advocates and family practitioners to better understand the exciting new developments and how they can be implemented in our day to day work. Those taking the time to read through this superb volume will find it time well spent that pays back dividends in many different ways. —FOREWORD by Gary B. Mesibov, Ph.D., Professor and Director of TEACCH, Treatment and Education of Autistic and Related Communication Handicapped Children University of North Carolina at Chapel Hill
Publisher: John Wiley & Sons
ISBN: 0470394730
Category : Family & Relationships
Languages : en
Pages : 624
Book Description
Autism is in the public spotlight now more than ever as new research and information appears almost daily. Although in many ways this is a positive development it also presents challenges to families and practitioners who want to keep up with the latest developments and are left to sift through new information by themselves to see what is credible and relevant for them.Each of us needs a personal research assistant who can determine which information we need to pay attention to and let us know how it might affect our daily work and the children we are living with or serve. Since we each don’t have our own research assistants on staff, I am delighted to recommend this wonderful book by Fred Volkmar and Lisa Wiesner. Both of these talented professional leaders have combined their scientific skills and understanding of the field with great practical experience and ideas about how research can be translated into clinical practice. The result is a book that provides the best and most comprehensive information about recent scientific developments and a splendid practical guide for how they are being implemented and what we are learning in the process. The issues are presented in all of their complexity but translated into language that is clear, direct, and easy to follow. The format also lends itself to understanding the complex issues and their implications through excellent charts, question and answer sections, and chapters that vary from describing diagnostic issues to stating very specifically how to expand and evaluate the services one is receiving. The comprehensive references and lists of additional resources also add greatly to the overall package. As a professional dedicated to understanding scientific advances and helping families and teachers to utilize them most effectively, I am very pleased to have an ally like this book available. I am very grateful to the authors for providing a very credible, practical, and relevant addition to our field to help the many advocates and family practitioners to better understand the exciting new developments and how they can be implemented in our day to day work. Those taking the time to read through this superb volume will find it time well spent that pays back dividends in many different ways. —FOREWORD by Gary B. Mesibov, Ph.D., Professor and Director of TEACCH, Treatment and Education of Autistic and Related Communication Handicapped Children University of North Carolina at Chapel Hill
Child and Adolescent Psychiatry
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.
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.
Management of Genetic Syndromes
Author: Suzanne B. Cassidy
Publisher: John Wiley & Sons
ISBN: 1118210670
Category : Medical
Languages : en
Pages : 1678
Book Description
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 diagnosis and treatment of these disorders. Expanded to cover five new syndromes, this comprehensive new edition also features updates of chapters from the previous editions. Each chapter is written by an expert with extensive direct professional experience with that disorder and incorporates thoroughly updated material on new genetic findings, consensus diagnostic criteria, and management strategies. Edited by two of the field's most highly esteemed experts, this landmark volume provides: A precise reference of the physical manifestations of common genetic syndromes, clearly written for professionals and families Extensive updates, particularly in sections on diagnostic criteria and diagnostic testing, pathogenesis, and management A tried-and-tested, user-friendly format, with each chapter including information on incidence, etiology and pathogenesis, diagnostic criteria and testing, and differential diagnosis Up-to-date and well-written summaries of the manifestations followed by comprehensive management guidelines, with specific advice on evaluation and treatment for each system affected, including references to original studies and reviews A list of family support organizations and resources for professionals and families Management of Genetic Syndromes, Third Edition is a premier source to guide family physicians, pediatricians, internists, medical geneticists, and genetic counselors in the clinical evaluation and treatment of syndromes. It is also the reference of choice for ancillary health professionals, educators, and families of affected individuals looking to understand appropriate guidelines for the management of these disorders. From a review of the first edition: "An unparalleled collection of knowledge . . . unique, offering a gold mine of information." —American Journal of Medical Genetics
Publisher: John Wiley & Sons
ISBN: 1118210670
Category : Medical
Languages : en
Pages : 1678
Book Description
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 diagnosis and treatment of these disorders. Expanded to cover five new syndromes, this comprehensive new edition also features updates of chapters from the previous editions. Each chapter is written by an expert with extensive direct professional experience with that disorder and incorporates thoroughly updated material on new genetic findings, consensus diagnostic criteria, and management strategies. Edited by two of the field's most highly esteemed experts, this landmark volume provides: A precise reference of the physical manifestations of common genetic syndromes, clearly written for professionals and families Extensive updates, particularly in sections on diagnostic criteria and diagnostic testing, pathogenesis, and management A tried-and-tested, user-friendly format, with each chapter including information on incidence, etiology and pathogenesis, diagnostic criteria and testing, and differential diagnosis Up-to-date and well-written summaries of the manifestations followed by comprehensive management guidelines, with specific advice on evaluation and treatment for each system affected, including references to original studies and reviews A list of family support organizations and resources for professionals and families Management of Genetic Syndromes, Third Edition is a premier source to guide family physicians, pediatricians, internists, medical geneticists, and genetic counselors in the clinical evaluation and treatment of syndromes. It is also the reference of choice for ancillary health professionals, educators, and families of affected individuals looking to understand appropriate guidelines for the management of these disorders. From a review of the first edition: "An unparalleled collection of knowledge . . . unique, offering a gold mine of information." —American Journal of Medical Genetics