Advances in Autism Research - The Genomic Basis of ASD. PDF Download

Author: Melanie Lacaria
Publisher:
ISBN: 9789535110217
Category :
Languages : en
Pages :

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Author: Paolo Sassone-Corsi
Publisher: Springer
ISBN: 3319270699
Category : Medical
Languages : en
Pages : 132

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Book Description
Recent years have seen spectacular advances in the field of circadian biology. These have attracted the interest of researchers in many fields, including endocrinology, neurosciences, cancer, and behavior. By integrating a circadian view within the fields of endocrinology and metabolism, researchers will be able to reveal many, yet-unsuspected aspects of how organisms cope with changes in the environment and subsequent control of homeostasis. This field is opening new avenues in our understanding of metabolism and endocrinology. A panel of the most distinguished investigators in the field gathered together to discuss the present state and the future of the field. The editors trust that this volume will be of use to those colleagues who will be picking up the challenge to unravel how the circadian clock can be targeted for the future development of specific pharmacological strategies toward a number of pathologies.

Author: Antonio Narzisi
Publisher: MDPI
ISBN: 3036501622
Category : Medical
Languages : en
Pages : 398

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Book Description
This book represents one of the most up-to-date collections of articles on clinical practice and research in the field of Autism Spectrum Disorders (ASD). The scholars who contributed to this book are experts in their field, carrying out cutting edge research in prestigious institutes worldwide (e.g., Harvard Medical School, University of California, MIND Institute, King’s College, Karolinska Institute, and many others). The book addressed many topics, including (1) The COVID-19 pandemic; (2) Epidemiology and prevalence; (3) Screening and early behavioral markers; (4) Diagnostic and phenotypic profile; (5) Treatment and intervention; (6) Etiopathogenesis (biomarkers, biology, and genetic, epigenetic, and risk factors); (7) Comorbidity; (8) Adulthood; and (9) Broader Autism Phenotype (BAP). This book testifies to the complexity of performing research in the field of ASD. The published contributions underline areas of progress and ongoing challenges in which more certain data is expected in the coming years. It would be desirable that experts, clinicians, researchers, and trainees could have the opportunity to read this updated text describing the challenging heterogeneity of Autism Spectrum Disorder.

Author: Valerie W Hu
Publisher: World Scientific
ISBN: 9814602175
Category : Medical
Languages : en
Pages : 724

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This book focuses on the emerging and expanding areas of research on ASD and their potential to lead to better diagnosis and more effective therapies. These areas include innovative and integrative approaches to genetic/genomic analyses and investigations of epigenetic contributions, including the role of noncoding RNAs, DNA methylation, alternative splicing, RNA editing, and faulty translation in gene regulation and expression, metabolic and immune dysfunction, co-morbidities, as well as hormonal and gene-environment interactions that may increase risk for ASD. Within each chapter, experts review cutting-edge research as well as provide their perspective on the future of research in their respective areas, including the challenges involved and the types of studies or advances that are necessary to move the field forward to achieve predicted translational goals. Contributors: Argel Aguilar-Valles, Evdokia Anagnostou, Emma Ashwin, Bonnie Auyeung, Kelly M Bakulski, Simon Baron-Cohen, Margaret L Bauman, Donna Betts, Chad A Bousman, Daniel B Campbell, Manuel F Casanova, Bhismadev Chakrabarti, Gursharan Chana, Abha Chauhan, Ved Chauhan, Jessica DeWitt, Keith W Dunaway, Alal Eran, Ian P Everall, M Daniele Fallin, Richard E Frye, Piers Gillett, Matthew Ginsberg, Christos G Gkogkas, Rhonda J Greenhaw, Simon G Gregory, Elena L Grigorenko, Feng Gu, Rebecca Harmer, Martha Herbert, Valerie W Hu, Karen L Jones, Petra Kern, Arkady Khoutorsky, Rebecca Knickmeyer, Isaac S Kohane, Louis M Kunkel, Janine M LaSalle, Michael V Lombardo, Deepali Mankad, Marvin Natowicz, Laura Nicholls, Christos Pantelis, Natalia Rakhlin, Radhika Ramadas, Daniel A Rossignol, Tewarit Sarachana, Stephen W Scherer, Gabriela Schmulevich, Ayten Shah, Frank R Sharp, Alison B Singer, Efstratios Skafidas, Estate M Sokhadze, Nahum Sonenberg, Boryana Stamova, Zohreh Talebizadeh, Renee Testa, Judy Van de Water, Irina Voineagu, Daniel Williams, Ryan K C Yuen, Daniela Zantomio. Contents:Dissecting the Genetic Architecture of ASD:Phenotype Definition: A Cornerstone of Autism Research, Diagnosis and Therapy (Valerie W Hu)From Molecular Pathways to ASD Therapy: Insights from Syndromic Forms of Autism (Laura Nicholls, Radhika Ramadas and Irina Voineagu)Language Impairment in Autism Spectrum Disorders (Natalia Rakhlin and Elena L Grigorenko)Whole Genome Sequencing in Autism: Clinical Translation (Ryan K C Yuen and Stephen W Scherer)The Impact of Integrative Unconventional Data Analysis Approaches on Advancing Autism Genetics Research (Zohreh Talebizadeh and Ayten Shah)Construction of a Genetic Classifier for ASD Using Gene Pathway Analysis (Gursharan Chana, Renee Testa, Piers Gillett, Daniel Williams, Chad A Bousman, Daniela Zantomio, Ian P Everall, Christos Pantelis and Efstratios Skafidas)Gene Dysregulation in ASD: From Transcription to Translation:Genome-Wide Expression Studies of Blood and Lymphoblastoid Cell Lines in Autism Spectrum Disorders (Boryana Stamova and Frank R Sharp)Searching in the “Dark”: Non-Coding RNA as a New Avenue of Autism Research (Tewarit Sarachana and Valerie W Hu)Targeting Noncoding RNA for Treatment of Autism Spectrum Disorders (Jessica DeWitt and Daniel B Campbell)A-to-I RNA Editing in Autism Spectrum Disorder (Alal Eran, Isaac S Kohane and Louis M Kunkel)Translational Control of Autism and Fragile-X Syndrome (Christos G Gkogkas, Argel Aguilar-Valles, Arkady Khoutorsky and Nahum Sonenberg)Epigenetic, Environmental, and Physiological Contributions to ASD:Epigenetics in Autism (Matthew Ginsberg and Marvin Natowicz)The Epigenetics of Autism — Running Beyond the Bases (Simon G Gregory)Genes and Environment in Autism Spectrum Disorders: An Integrated Perspective (Kelly M Bakulski, Alison B Singer and M Daniele Fallin)The Potential Brain Drain from Environmental Exposures on the Methylome and Genome Across Generations (Janine M LaSalle and Keith W Dunaway)Oxidative Stress and Mitochondrial Dysfunction in ASDs (Feng Gu, Ved Chauhan and Abha Chauhan)Maternal Autoantibodies in Autism Spectrum Disorder (Karen L Jones and Judy Van de Water)Why is Autism More Common in Males? (Simon Baron-Cohen, Michael V Lombardo, Bonnie Auyeung, Emma Ashwin, Bhismadev Chakrabarti and Rebecca Knickmeyer)Moving Towards Personalized Treatment of ASD and Lifespan Issues:Future Directions in Psychopharmacology of Autism Spectrum Disorder (Deepali Mankad and Evdokia Anagnostou)Medical Co-Morbidities in Autism: Clues to Underlying Biological Mechanisms and/or Diagnostic Subtypes? (Margaret L Bauman)Translational Implications of a Whole-Body Approach to Brain Health in Autism: How Transduction Between Metabolism and Electrophysiology Points to Mechanisms for Neuroplasticity (Martha R Herbert)Achieving Optimal Outcomes in Autism: Treating Potentially Reversible Conditions Associated with Autism Spectrum Disorder (Richard E Frye and Daniel A Rossignol)Transcranial Magnetic Stimulation: Application in Autism Treatment (Manuel F Casanova and Estate M Sokhadze)Music Therapy: Personalized Interventions for Individuals with Autism Spectrum Disorder (Petra Kern)The Contributions of Art Therapy in Treatment, Assessment, and Research with People Who have Autism Spectrum Disorders (Donna Betts, Rebecca Harmer and Gabriela Schmulevich)Shifting Paradigms: An Examination of Our Understanding of Adult Autism (Rhonda J Greenhaw) Readership: Established investigators and students engaged in autism research; also the general population, especially families of individuals affected by ASD and their professional caregivers. Key Features:This book presents a prospective look forward at autism research in multiple rapidly evolving areas, thus helping to provide focus and directions for future studiesThis book provides perspectives on what translational outcomes (e.g., novel and targeted therapeutics) can be anticipated from such studiesStrong focus on patient-centered researchKeywords:Autism Spectrum Disorders;Genetics;Genomics;Transciptome;Gene Regulation;Epigenetics;Noncoding RNA;RNA Editing;Gene-Environment Interactions;Sex Bias in ASD;Metabolic Dysfunction;Novel Therapeutics;Art Therapy;Music Therapy;Adult Population

Author: Andreas M. Grabrucker
Publisher:
ISBN:
Category :
Languages : en
Pages : 117

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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.

Author: Sally J. Rogers
Publisher: Guilford Publications
ISBN: 1462545238
Category : Psychology
Languages : en
Pages : 323

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From leading authorities, this state-of-the-art manual presents the Early Start Denver Model (ESDM), the first comprehensive, empirically tested intervention specifically designed for toddlers and preschoolers with autism spectrum disorder. 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. Implementing individualized treatment plans for each child requires the use of an assessment tool, the Early Start Denver Model Curriculum Checklist for Young Children with Autism. A nonreproducible checklist is included in the manual for reference, along with instructions for use; 8½" x 11" checklists are sold separately in sets of 15 ready-to-use booklets. See also the authors' related parent guide, An Early Start for Your Child with Autism.

Author:
Publisher:
ISBN: 9783038425212
Category : Electronic book
Languages : en
Pages :

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Annotation This textbook is dedicated to the study of genetic factors contributing to autism and includes a collection of original research and review articles related to this topic. Autism spectrum disorders (ASD) include a collection of neurodevelopmental disorders characterized by three recognized behavioral domains involving difficulties in communication, social interaction and repetitive behavior. ASD affects 1 to 2 percent of children and is on the increase worldwide. Significant genetic contributions and mechanisms underlie the causation of ASD. Advances in genetic technology and better awareness have led to a diagnosis of 50 to 70 percent of individuals with ASD primarily due to chromosomal abnormalities, submicroscopic deletions or duplications now identified with high-resolution microarray analysis, next-generation DNA (exome) sequencing of gene variants or mutations, recognized single gene disorders or metabolic disturbances. Through discovery by searching genomic databases and peer-reviewed research articles, nearly 800 genes have been identified to contribute to ASD. Highlights in the field of autism research, discovery and identification of genetic components with characterization will be addressed. Furthermore, reviews of current understanding of the causes and diagnostic approaches for ASD and related syndromes will be presented along with discussion of psychiatric/behavior comorbidities and related features, environmental risk factors, parental attitudes and treatment.

Author:
Publisher: Academic Press
ISBN: 9780124187009
Category : Science
Languages : en
Pages : 0

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This volume in the International Review of Neurobiology is a comprehensive overview of the state-of-the-art research into autism pathophysiology. Its chapters cover a wide range of etiologies, from genetics and development to environmental factors. In addition, it discusses key cell and behavioral phenotypes, including cortical and cerebellar phenotypes, as well as language and motor outputs. Finally, this volume's chapters on gene expression in the brain describe how genes may be connected to phenotypes in autism.

Author: Gene J. Blatt
Publisher: Springer Science & Business Media
ISBN: 144191272X
Category : Medical
Languages : en
Pages : 295

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A perceived rise in autism worldwide has led to a dramatic increase in autism research. This is a uniquely interdisciplinary text that presents the latest findings regarding the physiological, neuropathological, neurochemical and clinical elements of autism.

Author: S.H. Fatemi
Publisher: Springer Science & Business Media
ISBN: 0387767614
Category : Medical
Languages : en
Pages : 473

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Book Description
Reelin glycoprotein is a serine protease with important roles in embryogenesis and during adult life. This comprehensive and integrative book examines the role that reelin plays in the etiology of various neuropsychiatric disorders, including schizophrenia and autism. The book provides an unprecedented analysis of this emerging and novel protein by examining evidence from genetic, neuroanatomic, biochemical, and behavioral studies.