Neurogenetic Developmental Disorders

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Early Development in Neurogenetic Disorders

Deborah J. Fidler
Early Development in Neurogenetic Disorders Book PDF

Author : Deborah J. Fidler
Publisher : Academic Press
Page : 339 pages
File Size : 48,9 Mb
Release : 2011-08-08
Category : Medical
ISBN : 9780123744784

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Early Development in Neurogenetic Disorders by Deborah J. Fidler Pdf

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

Michèle M. M. Mazzocco,Judith L. Ross
Neurogenetic Developmental Disorders Book PDF

Author : Michèle M. M. Mazzocco,Judith L. Ross
Publisher : MIT Press
Page : 525 pages
File Size : 47,8 Mb
Release : 2007
Category : Child
ISBN : 9780262134804

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Neurogenetic Developmental Disorders by Michèle M. M. Mazzocco,Judith L. Ross Pdf

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

Marcia A. Barnes
Genes Brain and Development Book PDF

Author : Marcia A. Barnes
Publisher : Cambridge University Press
Page : 237 pages
File Size : 40,5 Mb
Release : 2010-01-07
Category : Psychology
ISBN : 9781139484879

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Genes, Brain and Development by Marcia A. Barnes Pdf

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

Alisdair McNeill
Diagnosis of Neurogenetic Disorders Contribution of Next Generation Sequencing and Deep Phenotyping Book PDF

Author : Alisdair McNeill
Publisher : MDPI
Page : 96 pages
File Size : 40,7 Mb
Release : 2019-10-23
Category : Medical
ISBN : 9783039216109

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Diagnosis of Neurogenetic Disorders: Contribution of Next Generation Sequencing and Deep Phenotyping by Alisdair McNeill Pdf

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

Alisdair McNeill
Diagnosis of Neurogenetic Disorders Contribution of Next Generation Sequencing and Deep Phenotyping Book PDF

Author : Alisdair McNeill
Publisher : Unknown
Page : 1 pages
File Size : 51,6 Mb
Release : 2019
Category : Electronic books
ISBN : 3039216112

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Diagnosis of Neurogenetic Disorders: Contribution of Next Generation Sequencing and Deep Phenotyping by Alisdair McNeill Pdf

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.

Neurogenetics for the Practitioner

Gregory M. Pastores
Neurogenetics for the Practitioner Book PDF

Author : Gregory M. Pastores
Publisher : Elsevier
Page : 512 pages
File Size : 40,6 Mb
Release : 2024-04-26
Category : Medical
ISBN : 9780323958592

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Neurogenetics for the Practitioner by Gregory M. Pastores Pdf

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 of Research in Developmental Disabilities

Anonim
International Review of Research in Developmental Disabilities Book PDF

Author : Anonim
Publisher : Academic Press
Page : 314 pages
File Size : 48,8 Mb
Release : 2016-10-14
Category : Psychology
ISBN : 9780128051771

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International Review of Research in Developmental Disabilities by Anonim Pdf

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 Contains a vast range of perspectives, with many topics covered Presents an excellent resource for academic researchers

International Review Research in Developmental Disabilities

Anonim
International Review Research in Developmental Disabilities Book PDF

Author : Anonim
Publisher : Academic Press
Page : 280 pages
File Size : 42,9 Mb
Release : 2020-09-29
Category : Psychology
ISBN : 9780128206973

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International Review Research in Developmental Disabilities by Anonim Pdf

International Review of Research in Developmental Disabilities, Volume 58, highlights new advances in the field, with this new volume presenting interesting chapters on topics including The Importance of Informal Supports in Meeting the Daily Needs of Adults with IDD, Forms and Functions of Special Education Advocacy: Supporting Families of Children with IDD, The Disability Training Needs of Healthcare Professionals, Health promotion and obesity risk in Intellectual and Developmental Disabilities, Community-based participatory approaches to IDD research, and Measuring behavioral problems in children with Down syndrome. 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

Neurogenetics

Nicholas Wood
Neurogenetics Book PDF

Author : Nicholas Wood
Publisher : Cambridge University Press
Page : 251 pages
File Size : 42,7 Mb
Release : 2012-04-12
Category : Medical
ISBN : 9780521543729

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Neurogenetics by Nicholas Wood Pdf

A coherent, up-to-date overview of the rapidly advancing field of neurogenetics for neurologists of any level.

Developmental Disorders and Interventions

Anonim
Developmental Disorders and Interventions Book PDF

Author : Anonim
Publisher : Academic Press
Page : 286 pages
File Size : 53,6 Mb
Release : 2010-11-26
Category : Medical
ISBN : 0080885446

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Developmental Disorders and Interventions by Anonim Pdf

Volume 39 of the Advances in Child Development and Behavior series is concerned with Developmental Disorders and Interventions. This volume provides an overview of contemporary research into cognitive, neurodevelopmental and genetic disorders of learning. The social, emotional and cognitive functioning of children with William’s syndrome, Down syndrome, Fragile X and autism, reading difficulties, mathematical difficulties and working memory problems are discussed by some of the leading researchers in the field. Within each chapter, the authors consider current interventions and methods for remediating difficulties associated with each disorder, which will be of particular interest to clinical and educational practitioners. Goes in depth to address contemporary research into neurodevelopmental and genetic disorders of learning A necessary resource for both psychology researchers and students The authors are either leaders in their chosen fields or have worked in some of the leading research teams in the world This volume covers a broad range of developmental disorders of learning, from genetic disorders such as Down syndrome to cognitive problems such as poor working memory function. The focus on interventions within each chapter will be of particular interest both to academics and clinical and educational practitioners

Handbook of Evidence-Based Practices in Intellectual and Developmental Disabilities

Nirbhay N. Singh
Handbook of Evidence Based Practices in Intellectual and Developmental Disabilities Book PDF

Author : Nirbhay N. Singh
Publisher : Springer
Page : 984 pages
File Size : 50,6 Mb
Release : 2016-05-11
Category : Psychology
ISBN : 9783319265834

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Handbook of Evidence-Based Practices in Intellectual and Developmental Disabilities by Nirbhay N. Singh Pdf

This handbook presents a diverse range of effective treatment approaches for individuals with intellectual and developmental disabilities (IDD). Its triple focus on key concepts, treatment and training modalities, and evidence-based interventions for challenging behaviors of individuals with IDD provides a solid foundation for effective treatment strategies, theory-to-implementation issues, and the philosophical and moral aspects of care. Expert contributions advocate for changes in treating individuals with intellectual and developmental disabilities by emphasizing caregiver support as well as respecting and encouraging client autonomy, self-determination, and choice. With its quality-of-life approach, the handbook details practices that are person-centered and supportive as well as therapeutically sound. Topics featured in the handbook include: Functional and preference assessments for clinical decision making. Treatment modalities from cognitive behavioral therapy and pharmacotherapy to mindfulness, telehealth, and assistive technologies. Self-determination and choice as well as community living skills. Quality-of-life issues for individuals with IDD. Early intensive behavior interventions for autism spectrum disorder. Skills training for parents of children with IDD as well as staff training in positive behavior support. Evidence-based interventions for a wide range of challenging behaviors and issues. The Handbook of Evidence-Based Practices in Intellectual and Developmental Disabilities is a must-have resource for researchers, clinicians, scientist-practitioners, and graduate students in clinical psychology, social work, behavior therapy, and rehabilitation.

Attention, Genes, and Developmental Disorders

Kim Cornish,John Wilding
Attention Genes and Developmental Disorders Book PDF

Author : Kim Cornish,John Wilding
Publisher : Oxford University Press
Page : 592 pages
File Size : 44,6 Mb
Release : 2010-08-12
Category : Psychology
ISBN : 9780190292669

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Attention, Genes, and Developmental Disorders by Kim Cornish,John Wilding Pdf

What is attention? How does it go wrong? Do attention deficits arise from genes or from the environment? Can we cure it with drugs or training? Are there disorders of attention other than deficit disorders? The past decade has seen a burgeoning of research on the subject of attention. This research has been facilitated by advances on several fronts: New methods are now available for viewing brain activity in real time, there is expanding information on the complexities of the biochemistry of neural activity, individual genes can be isolated and their functions identified, analysis of the component processes included under the broad umbrella of "attention" has become increasingly sophisticated, and ingenious methods have been devised for measuring typical and atypical development of these processes, from infancy into childhood, and then into adulthood. In this book, Kim Cornish and John Wilding are concerned with attention and its development, both typical and atypical, particularly in disorders with a known genetic etiology or assumed genetic linkage. Tremendous advances across seemingly diverse disciplines - molecular genetics, pediatric neurology, child psychiatry, developmental cognitive neuroscience, and education - have culminated in a wealth of new methods for elucidating disorders at multiple levels, possibly paving the way for new treatment options. Cornish and Wilding use three specific-yet-interlinking levels of analysis: genetic blueprint (genotype), the developing brain, and the behavioral-cognitive outcomes (phenotype), as the basis for charting the attention profiles of six well-documented neurodevelopmental disorders: ADHD, autism, fragile X syndrome, Down syndrome, Williams syndrome, and 22q11 deletion syndrome. Their overarching aim in this book is to provide the most authoritative and extensive account to date of disorder-specific attention profiles and their development from infancy through adolescence.

Neurodevelopmental Disorders

Bin Chen,Kenneth Y. Kwan
Neurodevelopmental Disorders Book PDF

Author : Bin Chen,Kenneth Y. Kwan
Publisher : Academic Press
Page : 428 pages
File Size : 46,7 Mb
Release : 2020-05-24
Category : Medical
ISBN : 9780128144107

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Neurodevelopmental Disorders by Bin Chen,Kenneth Y. Kwan Pdf

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

Understanding Intellectual and Developmental Disabilities

Grace Iarocci,Jacob A. Burack,Dermot Bowler
Understanding Intellectual and Developmental Disabilities Book PDF

Author : Grace Iarocci,Jacob A. Burack,Dermot Bowler
Publisher : SAGE Publications Limited
Page : 402 pages
File Size : 52,8 Mb
Release : 2024-03-28
Category : Psychology
ISBN : 9781526485199

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Understanding Intellectual and Developmental Disabilities by Grace Iarocci,Jacob A. Burack,Dermot Bowler Pdf

Written by psychologists engaged in research, teaching, and practice, Understanding Intellectual and Developmental Disabilities encourages a nuanced, contextually informed understanding of the development of individuals with developmental disabilities. This accessible book contextualises developmental disability across the lifespan and within social systems. It will help you understand the complex interaction between genetics, environments, and experiences, in relation to specific conditions such as ADHD, autism, foetal alcohol spectrum conditions, and Down syndrome. It also introduces you to the wide range of real-world applications of developmental disabilities research and to some of the current ethical issues around genetic screening and behavioural intervention. Key learning features include: Learning objectives Focus boxes that deliver additional helpful context Chapter summaries Reflective exercises and questions, to test what you’ve learned Recommended videos This book is ideal for students studying atypical development, developmental neuropsychology, and related subjects. Grace Iarocci is Professor of Psychology and the Director of the Autism and Developmental Disabilities Lab at Simon Fraser University Jacob A. Burack is Professor of School/Applied Child Psychology and Human Development at McGill University, Director of the McGill Youth Study Team, and Scientific Director of the Summit Center for Education, Research, and Training Dermot M. Bowler is Professor of Psychology and a founder member of the Autism Research Group at City, University of London

Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease

Roger N. Rosenberg,Juan M. Pascual
Rosenberg s Molecular and Genetic Basis of Neurological and Psychiatric Disease Book PDF

Author : Roger N. Rosenberg,Juan M. Pascual
Publisher : Elsevier
Page : 1464 pages
File Size : 55,5 Mb
Release : 2014-10-28
Category : Medical
ISBN : 9780124105492

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Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease by Roger N. Rosenberg,Juan M. Pascual Pdf

Rosenberg’s Molecular and Genetic Basis of Neurologic and Psychiatric Disease, Fifth Edition provides a comprehensive introduction and reference to the foundations and key practical aspects relevant to the majority of neurologic and psychiatric disease. A favorite of over three generations of students, clinicians and scholars, this new edition retains and expands the informative, concise and critical tone of the first edition. This is an essential reference for general medical practitioners, neurologists, psychiatrists, geneticists, and related professionals, and for the neuroscience and neurology research community. The content covers all aspects essential to the practice of neurogenetics to inform clinical diagnosis, treatment and genetic counseling. Every chapter has been thoroughly revised or newly commissioned to reflect the latest scientific and medical advances by an international team of leading scientists and clinicians. The contents have been expanded to include disorders for which a genetic basis has been recently identified, together with abundant original illustrations that convey and clarify the key points of the text in an attractive, didactic format. Previous editions have established this book as the leading tutorial reference on neurogenetics. Researchers will find great value in the coverage of genomics, animal models and diagnostic methods along with a better understanding of the clinical implications. Clinicians will rely on the coverage of the basic science of neurogenetics and the methods for evaluating patients with biochemical abnormalities or gene mutations, including links to genetic testing for specific diseases. Comprehensive coverage of the neurogenetic foundation of neurological and psychiatric disease Detailed introduction to both clinical and basic research implications of molecular and genetic understanding of the brain Detailed coverage of genomics, animal models and diagnostic methods with new coverage of evaluating patients with biochemical abnormalities or gene mutations