Neurogenetic Developmental Disorders
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Early Development In Neurogenetic Disorders
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Author : Deborah J. Fidler
language : en
Publisher: Academic Press
Release Date : 2011-08-08
Early Development In Neurogenetic Disorders written by Deborah J. Fidler and has been published by Academic Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2011-08-08 with Medical categories.
This special issue is among the first volumes to examine the topic of early development in children with neurogenetic disorders associated with intellectual disability. It includes discussions of theoretical issues regarding the emergence of behavioural profiles during early development, as well as comprehensive accounts of early development in specific disorders such as Down syndrome, fragile X syndrome, Williams syndrome, and sex chromosome disorders. In addition, several contributions examine the latest clinical applications of this work for diagnosis, treatment, and education. The comprehensive nature of the reviews of early development in neurogenetic disorders provided by top researchers in the field of developmental disabilities research Innovation in the application of new approaches to this population, such dynamic systems theory and the developmental trajectory approach to studying these populations place this volume on the cutting edge of theoretical work in this area This volume also addresses the implications of emerging behavioural phenotypes in neurogenetic disorders from many angles-the biological issues related to diagnosis, psychiatric issues related to comorbid conditions such as autism and autism spectrum disorder, and educational issues related to targeted intervention
Neurogenetic Developmental Disorders
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Author : Michèle M. M. Mazzocco
language : en
Publisher: MIT Press
Release Date : 2007
Neurogenetic Developmental Disorders written by Michèle M. M. Mazzocco and has been published by MIT Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2007 with Child categories.
Table of Contents: 1. Turner syndrome in childhood / Marsha L. Davenport, Stephen R. Hooper and Martha Zeger 2. Klinefelter syndrome / Judith L. Ross, Gerry A. Stefanatos and David Roeltgen 3. Fragile X syndrome : the journey from genes to behavior / Kimberly M. Cornish, Andrew Levitas and Vicki Sudhalter 4. Duchenne muscular dystrophy / Veronica J. Hinton and Edward M. Goldstein 5. Neurofibromatosis / John M. Slopis and Bartlett D. Moore III 6. Cognitive and behavioral characteristics of children with chromosome 22q11.2 deletion syndrome / Tony J. Simon, Merav Burg-Malki and Doron Gothelf 7. Williams Syndrome / Carolyn B. Mervis and Colleen A. Morris 8. Congenital hypothyroidism : genetic and biochemical influences on brain development and neuropsychological functioning / Joanne F. Rovet and Rosalind Brown 9. Inborn errors of metabolism / Kevin M. Antshel and Georgianne Arnold 10. Neurodevelopmental effects of childhood exposure to heavy metals : lessons from pediatric lead poisoning / Theodore I. Lidsky, Agnes T. Heaney, Jay S. Schneider and John F. Rosen 11. Beyond the diagnosis : the process of genetic counseling / Allyn McConkie-Rosell and Julianne O'Daniel 12. From diagnosis to adaptation : optimizing family and child functioning when a genetic diagnosis is associated with mental retardation / Laraine Masters Glidden and Sarah A. Schoolcraft 13. When a genetic disorder is associated with learning disabilities / Michele M. M. Mazzocco 14. Early intervention and early childhood special education for young children with neurogenetic disorders / Deborah D. Hatton 15. The individualized education program : navigating the IEP development process / Vicki Sudhalter.
Genes Brain And Development
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Author : Marcia A. Barnes
language : en
Publisher: Cambridge University Press
Release Date : 2010-01-07
Genes Brain And Development written by Marcia A. Barnes and has been published by Cambridge University Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2010-01-07 with Psychology categories.
Genetic syndromes and neurodevelopmental disorders that have a genetic basis are associated with cognitive and academic disabilities. Genes, Brain and Development reviews the connections between genes, brain, and behavior for a range of genetic disorders, and also considers lifespan and treatment issues. The content further explores what is known about development in neurogenetic disorders, particularly in the domains of language and mathematics, and shows how this knowledge is pertinent to understanding both these specific disorders, and disorders of language and math more generally. This will be essential reading for a wide range of brain scientists and developmental clinicians, including neuropsychologists, cognitive psychologists, neurologists, psychiatrists, pediatricians, neuroscientists and geneticists.
Diagnosis Of Neurogenetic Disorders Contribution Of Next Generation Sequencing And Deep Phenotyping
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Author : Alisdair McNeill
language : en
Publisher: MDPI
Release Date : 2019-10-23
Diagnosis Of Neurogenetic Disorders Contribution Of Next Generation Sequencing And Deep Phenotyping written by Alisdair McNeill and has been published by MDPI this book supported file pdf, txt, epub, kindle and other format this book has been release on 2019-10-23 with Medical categories.
The contribution of genomic variants to the aetiopathogenesis of both paediatric and adult neurological disease is being increasingly recognized. The use of next-generation sequencing has led to the discovery of novel neurodevelopmental disorders, as exemplified by the deciphering developmental disorders (DDD) study, and provided insight into the aetiopathogenesis of common adult neurological diseases. Despite these advances, many challenges remain. Correctly classifying the pathogenicity of genomic variants from amongst the large number of variants identified by next-generation sequencing is recognized as perhaps the major challenge facing the field. Deep phenotyping (e.g., imaging, movement analysis) techniques can aid variant interpretation by correctly classifying individuals as affected or unaffected for segregation studies. The lack of information on the clinical phenotype of novel genetic subtypes of neurological disease creates limitations for genetic counselling. Both deep phenotyping and qualitative studies can capture the clinical and patient’s perspective on a disease and provide valuable information. This Special Issue aims to highlight how next-generation sequencing techniques have revolutionised our understanding of the aetiology of brain disease and describe the contribution of deep phenotyping studies to a variant interpretation and understanding of natural history.
Diagnosis Of Neurogenetic Disorders Contribution Of Next Generation Sequencing And Deep Phenotyping
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Author : Alisdair McNeill
language : en
Publisher:
Release Date : 2019
Diagnosis Of Neurogenetic Disorders Contribution Of Next Generation Sequencing And Deep Phenotyping written by Alisdair McNeill and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 2019 with Electronic books categories.
The contribution of genomic variants to the aetiopathogenesis of both paediatric and adult neurological disease is being increasingly recognized. The use of next-generation sequencing has led to the discovery of novel neurodevelopmental disorders, as exemplified by the deciphering developmental disorders (DDD) study, and provided insight into the aetiopathogenesis of common adult neurological diseases. Despite these advances, many challenges remain. Correctly classifying the pathogenicity of genomic variants from amongst the large number of variants identified by next-generation sequencing is recognized as perhaps the major challenge facing the field. Deep phenotyping (e.g., imaging, movement analysis) techniques can aid variant interpretation by correctly classifying individuals as affected or unaffected for segregation studies. The lack of information on the clinical phenotype of novel genetic subtypes of neurological disease creates limitations for genetic counselling. Both deep phenotyping and qualitative studies can capture the clinical and patient's perspective on a disease and provide valuable information. This Special Issue aims to highlight how next-generation sequencing techniques have revolutionised our understanding of the aetiology of brain disease and describe the contribution of deep phenotyping studies to a variant interpretation and understanding of natural history.
International Review Of Research In Developmental Disabilities
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Author :
language : en
Publisher: Academic Press
Release Date : 2016-08-25
International Review Of Research In Developmental Disabilities written by and has been published by Academic Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2016-08-25 with Psychology categories.
International Review of Research in Developmental Disabilities provides an ongoing scholarly look at research into the causes, effects, classification systems, and syndromes, etc. of developmental disabilities. Contributors come from wide-ranging perspectives, including genetics, psychology, education, and other health and behavioral sciences. Provides the most recent scholarly research in the study of developmental disabilities A vast range of perspectives is offered, with many topics covered Presents an excellent resource for academic researchers
International Review Of Research In Developmental Disabilities
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Author :
language : en
Publisher: Academic Press
Release Date : 2015-09-23
International Review Of Research In Developmental Disabilities written by and has been published by Academic Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2015-09-23 with Psychology categories.
International Review of Research in Developmental Disabilities is an ongoing scholarly look at the latest research on the causes, effects, classification systems, syndromes, etc. of developmental disabilities. Contributors from wide-ranging perspectives, including genetics, psychology, education, and other health and behavioral sciences make this book a must have for both researchers, practitioners, and those interested in the science behind developmental disabilities. Provides the most recent scholarly research in the study of developmental disabilities. A vast range of perspectives is offered, and many topics are covered. An excellent resource for academic researchers.
Neurogenetics For The Practitioner
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Author : Gregory M. Pastores
language : en
Publisher: Elsevier
Release Date : 2024-04-26
Neurogenetics For The Practitioner written by Gregory M. Pastores and has been published by Elsevier this book supported file pdf, txt, epub, kindle and other format this book has been release on 2024-04-26 with Medical categories.
Neurogenetics is a growing field, providing a clear link between clinical characteristics of phenotypes and exact molecular tests to reach a specific diagnosis. Neurogenetics for the Practitioner provides clinicians with a navigation tool to help diagnose and treat patients with neurological disorders using neurogenetics. The first section introduces the reader to an overview of genetic principles, including practical applications in relation to diagnosis and current limitations. Additional chapters highlight how to workup patients presenting with certain features including cerebral palsy/intellectual disability, congenital muscular dystrophy, cognitive decline/dementia, peripheral neuropathy, and paroxysmal disorder. The final section explores therapeutic strategies based on genetic interventions and genetic counselling options. Internationally contributed, this book will become the essential reference guide for neurologist. Reviews genetic testing for diagnostic confirmation, including carrier testing and prenatal diagnosis Explores various therapeutic strategies based on genetic interventions Discusses when a neurologic problem may have an underlying genetic cause
International Review Research In Developmental Disabilities
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Author :
language : en
Publisher: Academic Press
Release Date : 2022-11-08
International Review Research In Developmental Disabilities written by and has been published by Academic Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2022-11-08 with Psychology categories.
International Review of Research in Developmental Disabilities, Volume 63 highlights new advances in the field, with this new volume presenting interesting chapters written by an international board of authors, including updates on Theoretical Issues in Adult Siblings, Effects of Challenging Behavior on Others, Transition among Latino Families, Career and Technical Education for adults with IDD, and Emotion Regulation and Social Anxiety in Autism Spectrum Disorders. Provides the authority and expertise of leading contributors from an international board of authors Presents the latest release in the International Review of Research in Developmental Disabilities series
Developmental Disorders Of The Brain
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Author : Nicole J. Rinehart
language : en
Publisher: Psychology Press
Release Date : 2016-10-14
Developmental Disorders Of The Brain written by Nicole J. Rinehart and has been published by Psychology Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2016-10-14 with Psychology categories.
Developmental Disorders of the Brain: Brain and Behaviour addresses disabilities that occur or have their roots in the early, developmental phase of life which are of utmost concern to parents, siblings, carers and teachers. This text describes the latest clinical and behavioral findings of disorders which largely or entirely involve the frontostriatal (basal ganglia) system including Tourette’s, Obsessive-Compulsive and Attention-Deficit-Hyperactivity disorders, Schizophrenia, Autism, gambling and addiction, depression, and Conduct, Developmental Motor Co-ordination, and language disorders. Examples of disorders involving the frontocerebellar are also described such as Asperger’s disorder, Williams, Fragile X, and Cerebellar Cognitive Affective syndromes, and Friedreich Ataxia. This book also discusses the relevant anatomy, physiology and pathology, and some of the major functions mediated by affected or relevant structures, together with accounts of the latest recording, brain imaging and stimulating techniques related to these kinds of disorders. Covering both frontostriatal and frontocerebellar, systems which control and direct normal behavior, and which can fail with often distressing consequences during development, as well as addressing behavioural, clinical, pathophysiological and technical aspects, this text is vital to understanding, diagnosis and management of developmental disorders of the brain. This text will be of great interest to clinicians, researchers, teachers and parents.