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Autism Spectrum Disorders From Genotypes To Phenotypes


Autism Spectrum Disorders From Genotypes To Phenotypes
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Autism Spectrum Disorders From Genotypes To Phenotypes


Autism Spectrum Disorders From Genotypes To Phenotypes
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Author : Valsamma Eapen
language : en
Publisher: Frontiers Media SA
Release Date : 2015-12-10

Autism Spectrum Disorders From Genotypes To Phenotypes written by Valsamma Eapen and has been published by Frontiers Media SA this book supported file pdf, txt, epub, kindle and other format this book has been release on 2015-12-10 with Autism categories.


This Research Topic covers the pathogenetic processes in Autism Spectrum Disorder (ASD) that underpin the translation of genetic vulnerability to clinically significant symptoms. Available research data in ASD suggests that it is a neural connectivity disorder and that the social communication and related neurobehavioural symptoms result from reduced synchronization between key "social brain" regions. These interconnected neural systems can be understood through the relationship between functionally relevant anatomic areas and neurochemical pathways, the programming of which are genetically modulated during neurodevelopment and mediated through a range of epigenetic and environmental modulators. Elucidating the underlying molecular mechanisms can provide an invaluable window for understanding the neural wiring that regulates higher brain functions and consequent clinical phenotypes. In keeping with the multi modal and diverse origins of ASD, this Research Topic explores the genetic underpinnings and environmental modulation in the aetiology; neural substrates, biomarkers and endophenotypes that underlie clinical characteristics; as well as neurochemical pathways and pathophysiological mechanisms that pave the way for therapeutic interventions. Furthermore, since genetically mediated deficits and consequent functional impairments involve activity-dependent synapse development that depends on postnatal learning and experience, the trajectory towards the final clinical expression could be modulated by early interventions that exploit the neuronal maturation and brain plasticity. However, identifying these diverse pathogenetic processes and tailoring interventions would require subtyping ASD into homogeneous subgroups. In this regard, this topic covers the current state of evidence in the literature through topic reviews as well as ongoing original work that provides tangible hypotheses and directions for future research.



Autism Spectrum Disorders


Autism Spectrum Disorders
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Author : David Amaral
language : en
Publisher: Oxford University Press
Release Date : 2011-05-01

Autism Spectrum Disorders written by David Amaral and has been published by Oxford University Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2011-05-01 with Medical categories.


Autism is an emerging area of basic and clinical research, and has only recently been recognized as a major topic in biomedical research. Approximately 1 in 150 children are diagnosed as autistic, so it is also an intense growth area in behavioral and educational treatments. Financial resources have begun to be raised for more comprehensive research and an increasing number of scientists are becoming involved in autism research. In many respects, autism has become a model for conducting translational research on a psychiatric disorder. This text provides a comprehensive summary of all current knowledge related to the behavioral, experiential, and biomedical features of the autism spectrum disorders including major behavioral and cognitive syndromology, common co-morbid conditions, neuropathology, neuroimmunology, and other neurological correlates such as seizures, allergy and immunology, gastroenterology, infectious disease, and epidemiology. Edited by three leading researchers, this volume contains over 80 chapters and nine shorter commentaries by thought leaders in the field, making the book a virtual "who's who" of autism research. This carefully developed book is a comprehensive and authoritative reference for what we know in this area as well as a guidepost for the next several years in all areas of autism research.



Autism Spectrum Disorders


Autism Spectrum Disorders
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Author : Eric Hollander
language : en
Publisher: American Psychiatric Pub
Release Date : 2018-04-30

Autism Spectrum Disorders written by Eric Hollander and has been published by American Psychiatric Pub this book supported file pdf, txt, epub, kindle and other format this book has been release on 2018-04-30 with Medical categories.


In DSM-5, published in 2013, the classification of autism spectrum disorder (ASD) was created, subsuming several diagnoses and representing a significant evolution from its first appearance in the DSM-III three decades earlier. Autism Spectrum Disorders reflects this evolution, offering clinicians and families a succinct, definitive, and up-to-date guide to current research in the field and its impact on assessment and treatment. The book begins with the epidemiology of ASDs, which have increased in prevalence, and explores genetic heritability and environmental risk factors. It then explains the roles of the psychiatrist, neurologist and pediatrician in assessing the patient, examines assessment tools and processes, and describes the latest advances in a variety of treatments and interventions. The text's focus is on educating and empowering families and health care providers to determine whether appropriate genetic testing and counseling have been undertaken, whether the individual has had the relevant assessment, and whether skilled behavioral treatment and additional medical assessment or treatment are required. Specifically, the text: Reviews existing prevalence estimates for ASDs since 2000 and discusses methodological factors impacting the estimation of prevalence and the interpretation of changes in prevalence estimates over time. Evaluates genomic and epigenomic research over the last decade in the context of translating findings to practice, in terms of testing (e.g., copy number variants and whole-exome sequencing) and counseling. Examines the role of environmental toxicity in immune dysregulation, which has now been noted among individuals with ASD and their family members by numerous studies. Reviews medical and cognitive assessments that may be needed. Reviews targeted treatments that have the potential to reverse neurobiological abnormalities in ASD Reviews behavioral treatments that are effective in promoting development and improving behavior. Describes the Developmental, Individual Difference, Relationship-based (DIR) model, a comprehensive developmental theory with relevance across the lifespan, which targets the core deficits of ASD identified in DSM-5. Provides an overview of school-based interventions for students with autism, exploring the rationale for conducting school-based research and examining existing teacher-, paraprofessional-, and peer-mediated interventions school-based interventions. Explores other approaches to ASDs, such as complementary and integrative approaches and non-invasive brain stimulation technologies, including transcranial magnetic stimulation. The push for early screening is resulting in earlier diagnosis of ASDs and the provision of evidence-based interventions that have a positive impact on outcomes. Autism Spectrum Disorders provides a bench-to-bedside guide that is essential reading for health care providers and families facing the challenges inherent in these complex disorders.



Early Start Denver Model For Young Children With Autism


Early Start Denver Model For Young Children With Autism
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Author : Sally J. Rogers
language : en
Publisher: Guilford Press
Release Date : 2010-01-01

Early Start Denver Model For Young Children With Autism written by Sally J. Rogers and has been published by Guilford Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2010-01-01 with Psychology categories.


Supported by the principles of developmental psychology and applied behavior analysis, ESDM's intensive teaching interventions are delivered within play-based, relationship-focused routines. The manual provides structured, hands-on strategies for working with very young children in individual and group settings to promote development in such key domains as imitation; communication; social, cognitive, and motor skills; adaptive behavior; and play. --from publisher description



Translational Anatomy And Cell Biology Of Autism Spectrum Disorder


Translational Anatomy And Cell Biology Of Autism Spectrum Disorder
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Author : Michael J. Schmeisser
language : en
Publisher: Springer
Release Date : 2017-05-25

Translational Anatomy And Cell Biology Of Autism Spectrum Disorder written by Michael J. Schmeisser and has been published by Springer this book supported file pdf, txt, epub, kindle and other format this book has been release on 2017-05-25 with Medical categories.


Autism spectrum disorder (ASD) affects approximately 1 % of the human population and is characterized by a core symptomatology including deficits in social interaction and repetitive patterns of behaviour plus various co-morbidities. Although a lot of progress has been made to uncover underlying causes and mechanisms throughout the last decade, we are still at the very beginning to understand this enormously complex neurodevelopmental condition. This special volume is focused on translational anatomy and cell biology of ASD. International experts from the field including several members of the EU-AIMS initiative launched by the European Union to develop novel treatments for ASD have contributed chapters on several topics covering all crucial aspects of translational ASD research with a special emphasis on ASD model systems including stem cells and animals. Primary objective is to clarify how anatomical and cell biological phenotypes of ASD will help to translate basic mechanisms to clinical practice and to efficiently treat affected individuals in the near future.



The Autisms


The Autisms
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Author : Mary Coleman
language : en
Publisher: OUP USA
Release Date : 2012-01-05

The Autisms written by Mary Coleman and has been published by OUP USA this book supported file pdf, txt, epub, kindle and other format this book has been release on 2012-01-05 with Medical categories.


The Autisms, Fourth Edition aids the clinician to diagnose autism and autism/epilepsy, and to learn what is known about the epidemiology, neuroanatomy, biochemistry, neuropsychology and genetics. There is now overwhelming evidence that autism is not a single disease and three chapters are devoted to genomic errors, shown to affect a number of final common pathways in the fetal brain.



Autism


Autism
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Author : Michael Fitzgerald
language : en
Publisher: BoD – Books on Demand
Release Date : 2017-04-12

Autism written by Michael Fitzgerald and has been published by BoD – Books on Demand this book supported file pdf, txt, epub, kindle and other format this book has been release on 2017-04-12 with Medical categories.


This book opens with a discussion of neurodiversity and an elaboration of the diagnosis of autism. It then examines factors correlating with autism, including sex bias, month of birth, migration and impact of infant feeding. The next section is on the impact of autism. The neurobiology and genetic section deals with epigenetics and intracellular pathways associated with etiology. The development and behaviour section deals with proprioceptive profiles and joint attention in autism. The final section focuses on interventions including mindfulness, animal assisted activity, social/cultural perspective on autism intervention and physical activity. The book is relevant to all professionals and researchers working with persons with autism, including psychiatrists/psychologists, speech and language therapists, occupational therapists, teachers, nurses and care workers.



Dimensional Approach To The Conceptualization And Measurement Of The Broad Autism Phenotype


Dimensional Approach To The Conceptualization And Measurement Of The Broad Autism Phenotype
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Author : Marta Godoy Giménez
language : en
Publisher: Universidad Almería
Release Date : 2023-06-26

Dimensional Approach To The Conceptualization And Measurement Of The Broad Autism Phenotype written by Marta Godoy Giménez and has been published by Universidad Almería this book supported file pdf, txt, epub, kindle and other format this book has been release on 2023-06-26 with Psychology categories.


The present dissertation has converged the knowledge of three fundamental areas of psychology: cognitive psychology, psychobiology, and psychometrics with the purpose of improving the operational and relational definitions of the broad autism phenotype (BAP) and its measurement process. Especially, it lies essence in psychometrics and its role in reconnecting how people show certain milder autistic behaviours with a theoretical and psychometric model capable of representing an operationalization of the construct in the Spanish and English general populations and developing a new measurement tool. This book is organized into three blocks: in the theoretical framework, we define autism (and BAP) from a dimensional perspective and expose the state of the art in its conceptualization and measurement. We finish by establishing the objectives and the research plan. The second block deepens into the empirical studies conducted during my Ph.D. apprenticeship. The first study presents the Spanish adaptation of the Broad AautismPhenotype Questionnaire (BAPQ), and the second study deepens into the BAPQ psychometric properties from the item response theory (IRT) perspective. In the third study , the ASD and BAP definitions are harmonized, and then a group of experts attempts to reshape the items of the most applied tests to assess BAP into its updated operationalization. The sixth chapter introduces the Broad Autism Phenotype-International Test (BAP-IT), which assesses the BAP two-domain operationalization in two different languages, Spanish and English. Finally, the third block exposes a general discussion of the overall results, draws certain conclusions, states the research limitations, and delineates future research approaches.



Movement Disorders In Childhood


Movement Disorders In Childhood
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Author : Harvey S. Singer
language : en
Publisher: Academic Press
Release Date : 2015-10-27

Movement Disorders In Childhood written by Harvey S. Singer and has been published by Academic Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2015-10-27 with Medical categories.


Movement Disorders in Childhood, Second Edition, provides the most up-to-date information on the diseases and disorders that affect motor control, an important area of specialization within child neurology. Over the past several decades, advances in genetics, neuroimaging, neurophysiology, and other areas of neuroscience have provided new understanding of the underlying etiologies and mechanisms of these conditions as well as new opportunities for more accurate diagnosis and effective treatment. This new edition builds upon the success of the first edition, with comprehensive scientific and clinical updates of all chapters. In addition, there are new chapters on hereditary spastic paraplegia, quantitative motor assessments, autoimmune disorders, and movement disorders in the developmental neuropsychiatric disorders ADHD, OCD, and autism. Additional materials are provided on the latest in drug treatments, computer based strategies for genetic diagnosis, and helpful videos for phenomenology. - Provides the only current reference specifically focused on childhood movement disorders - Investigates the underlying etiologies and mechanisms of these disorders - Completely revised and updated with new materials and a more disease-oriented approach - New coverage of genetics and movement disorders, immunology and movement disorders, and an introduction to the latest quantitative analysis - New videos of instructive and unusual childhood movement disorders - 2016 BMA Medical Book Awards Highly Commended in Neurology



International Handbook Of Autism And Pervasive Developmental Disorders


International Handbook Of Autism And Pervasive Developmental Disorders
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Author : Johnny L. Matson
language : en
Publisher: Springer Science & Business Media
Release Date : 2011-06-16

International Handbook Of Autism And Pervasive Developmental Disorders written by Johnny L. Matson and has been published by Springer Science & Business Media this book supported file pdf, txt, epub, kindle and other format this book has been release on 2011-06-16 with Education categories.


Since the early 1940s, when first identified as childhood psychosis and autistic psychopathy, autism spectrum disorder (ASD) has continued to burgeon into a major focus of inquiry and interest among researchers, practitioners, and the public alike. With each passing decade, the number of scholarly articles addressing ASD and related disabilities continues to soar. Today, thousands of papers on autism are published annually across various disciplines and journals, making it challenging – if not impossible – to keep pace with, let alone synthesize, all the latest developments. Based on a solid historical foundation of autism theory and research, the International Handbook of Autism and Pervasive Developmental Disorders integrates the broad scholarly base of literature with a trenchant analysis of the state of the field in nosology, etiology, assessment, and treatment. Its expert contributors examine recent findings and controversies (e.g., how prevalent autism actually is), along with longstanding topics of interest as well as emerging issues. Coverage includes: A survey of diagnostic criteria and assessment strategies. Genetic, behavioral, biopsychosocial, and cognitive models. Psychiatric disorders in persons with ASD. Theory of mind and facial recognition. Diagnostic instruments for assessing core features and challenging behaviors. Evidence-based psychosocial, pharmacological, and integrative treatments. Interventions specifically for adults with ASD. Training issues for professionals and parents. A review of findings of successful and promising therapies, coupled with guidance on how to distinguish between dubious and effectivetreatments. The International Handbook of Autism and Pervasive Developmental Disorders is an indispensable resource for researchers, professors, graduate students, and allied practitioners in clinical child and school psychology, child and adolescent psychiatry, education, social work, rehabilitation, pediatric medicine, and developmental psychology.