Parsing Heterogeneity in the Emerging Autism Phenotype: Effects of Familial Risk for Autism Spectrum Disorder

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ISBN 13 :
Total Pages : 49 pages
Book Rating : 4.:/5 (122 download)

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Book Synopsis Parsing Heterogeneity in the Emerging Autism Phenotype: Effects of Familial Risk for Autism Spectrum Disorder by : Torrey Lynn Cohenour

Download or read book Parsing Heterogeneity in the Emerging Autism Phenotype: Effects of Familial Risk for Autism Spectrum Disorder written by Torrey Lynn Cohenour and published by . This book was released on 2020 with total page 49 pages. Available in PDF, EPUB and Kindle. Book excerpt: Autism spectrum disorder (ASD) is a heterogeneous, highly heritable neurodevelopmental disability. Evidence suggests individuals with ASD who are at high familial risk for autism (i.e., those from multiplex families containing two or more ASD-affected children), exhibit distinct clinical characteristics from individuals with ASD from simplex families. The aim of the present study was to examine the effects of familial risk for autism on the emerging autism phenotype among infants and toddlers showing signs of ASD. Participants (N = 137) were 12- to 36-month-olds referred to two larger autism intervention studies due to autism concerns. Overall, simplex children showing signs of ASD demonstrated more severe cognitive delays, were more likely to present with expressive language delays, and had more severe autism symptoms than multiplex children with emerging ASD symptoms. This study is among the first to examine the effects of familial risk for autism among infants and toddlers showing early symptoms of ASD, and demonstrates that simplex-multiplex differences are present in the first years of life and before autism symptoms fully emerge.

Advances in Autism Research

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Publisher : MDPI
ISBN 13 : 3036502025
Total Pages : 434 pages
Book Rating : 4.0/5 (365 download)

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Book Synopsis Advances in Autism Research by : Antonio Narzisi

Download or read book Advances in Autism Research written by Antonio Narzisi and published by MDPI. This book was released on 2021-06-08 with total page 434 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Exploring Heterogeneity in Autism Neuroendophenotypes: Effects of Genetic Risk, Gender, and Behavioral Symptomatology

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ISBN 13 :
Total Pages : 192 pages
Book Rating : 4.:/5 (15 download)

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Book Synopsis Exploring Heterogeneity in Autism Neuroendophenotypes: Effects of Genetic Risk, Gender, and Behavioral Symptomatology by : Leanna Hernandez

Download or read book Exploring Heterogeneity in Autism Neuroendophenotypes: Effects of Genetic Risk, Gender, and Behavioral Symptomatology written by Leanna Hernandez and published by . This book was released on 2018 with total page 192 pages. Available in PDF, EPUB and Kindle. Book excerpt: Autism Spectrum Disorder (ASD) is a heritable neurodevelopmental disorder in which manifestations of behavioral symptomology vary widely. Core behavioral deficits associated with the disorder include impairments in social communication and social interactions, along with the presence of repetitive patterns of behavior, restricted interests, and/or altered sensory responsivity to external stimuli. The last decade has seen the rate of ASD diagnosis rise to an estimated 1 in every 59 children, making early diagnosis and effective treatment a critical public health concern. However, the neurobiological and phenotypic heterogeneity present in individuals with ASD makes discerning ASD etiologies and developing effective treatments very challenging. This dissertation seeks to examine the neurobiological underpinnings of ASD from a multidimensional perspective - investigating how brain function and connectivity are altered in ASD and how they vary among affected individuals, which may ultimately contribute to the development of targeted, individualized treatment. Chapter 1 provides an Introduction to the research conducted in the following chapters and gives a review of the neurobiological basis of ASD, describing neuroimaging findings related to altered brain structure, function, and connectivity. Chapter 2 describes a study which investigated how functional connectivity of the brain's reward network varies as a function of genetic heterogeneity in a predominantly male cohort of youth with and without ASD. Using a seed in the subcortical hub of the reward network, the nucleus accumbens, this study showed that genetic variability in the oxytocin receptor gene (OXTR) is linked to distinct patterns of reward network connectivity in neurotypical children and in children with ASD. In ASD youth, increased genetic risk in the OXTR was associated with reduced within network connectivity, whereas neurotypical youth showed compensatory upregulation of connectivity between the nucleus accumbens and frontal cortex. These findings elucidate the neural mechanisms of risk and resilience in youth with and without autism. Chapter 2 describes a related study which used an imaging-genetics approach to examine sex-differences in ASD by investigating gender-specific effects of OXTR variants on reward network connectivity. Here, the results showed that under the same OXTR genetic risk load, females with ASD and neurotypical males display similar neuroplastic upregulation of functional connectivity between the reward network and frontal brain regions, with identical positive effects on social behavior. In addition, variability in the OXTR had distinct effects in male and female ASD youth, underscoring the importance of including females in studies of gene-brain interactions in ASD. Finally, Chapter 3 presents data from a study which explored how behavioral variability in auditory sensory responsivity affects discourse processing and social attention in youth with and without ASD. Study findings showed that in neurotypical youth, listening to conversations shrouded in distracting environmental noises was associated with increased activity in canonical left hemisphere language regions, likely reflecting the automatic engagement of selective attention mechanisms due to the social salience of speech. Conversely, in ASD youth with high levels of auditory sensory over-responsivity, listening to such conversations was associated with recruitment of contralateral right hemisphere language homologues, reflecting the increased difficulty of processing the speech signal in the context of competing auditory input. These data indicate that youth with and without ASD, particularly ASD youth with high auditory sensitivity, use different neural mechanisms to "hone-in" on socially relevant information in the presence of distracting stimuli, suggesting that the intrinsic salience of speech is disrupted in individuals with ASD and high sensory-over responsivity.

Responsive Parenting, Gene-Environment Interactions, and Heterogeneous Social Development in Autism Spectrum Disorder

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ISBN 13 :
Total Pages : 121 pages
Book Rating : 4.:/5 (111 download)

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Book Synopsis Responsive Parenting, Gene-Environment Interactions, and Heterogeneous Social Development in Autism Spectrum Disorder by : Barbara Caplan

Download or read book Responsive Parenting, Gene-Environment Interactions, and Heterogeneous Social Development in Autism Spectrum Disorder written by Barbara Caplan and published by . This book was released on 2019 with total page 121 pages. Available in PDF, EPUB and Kindle. Book excerpt: Although autism spectrum disorder (ASD) is defined by core deficits in social communication and social interaction, there is considerable heterogeneity in social functioning among individuals with ASD. Relatively little is known about the origins and development of these individual differences. Emerging research suggests that family environments and genetic variants independently contribute to social functioning in youth with ASD, yet a better understanding of how these factors interact is necessary to: (1) parse apart factors that contribute to social heterogeneity in ASD and (2) develop and select optimal treatments based on individual characteristics. The present studies took an interdisciplinary approach to examine how early parenting quality and child genetics interact to predict trajectories of social functioning in youth with ASD. Participants were 176 families of children aged 4-7 years with ASD selected from a longitudinal study of developmental processes in ASD. Responsive parenting was rated within the context of free play parent-child interactions. Social development was assessed through multi-rater (parent, teacher) report of child social skills across three time points spanning 1.5 years. Study 1 examined the role of responsive parenting in predicting variation in child social development. Study 2 assessed biologically plausible candidate genes [serotonin transport gene (5-HTTLPR); oxytocin receptor gene (OXTR); dopamine receptor gene (DRD4)] as markers of susceptibility to environmental influence and mechanisms of genetically-informed environmental sensitivity. Specifically, Study 2 evaluated: (a) the additive and interactive effects of 5-HTTLPR, OXTR, DRD4 and responsive parenting in predicting social development in ASD, and (b) whether child emotion regulation mediates observed responsive parenting x child genotype interactions on social development. Initial levels of responsive parenting positively predicted prospective change in social skills by teacher report, and in parent-report models controlling for OXTR genotypes. 5-HTTLPR and DRD4, but not OXTR were found to interact with responsive parenting to predict growth in child social skills; interactions were not mediated by emotion regulation. Findings illuminate pathways of biopsychosocial models of development in ASD and stand to inform targeted, parent-mediated interventions.

Investigation of Genetic and Clinical Heterogeneity in Subtypes of Autism Spectrum Disorder

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ISBN 13 :
Total Pages : pages
Book Rating : 4.:/5 (133 download)

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Book Synopsis Investigation of Genetic and Clinical Heterogeneity in Subtypes of Autism Spectrum Disorder by : Ada Chan

Download or read book Investigation of Genetic and Clinical Heterogeneity in Subtypes of Autism Spectrum Disorder written by Ada Chan and published by . This book was released on 2020 with total page pages. Available in PDF, EPUB and Kindle. Book excerpt: Autism spectrum disorder (ASD) is clinically and genetically heterogeneous; core symptoms range from mild to severe, and the presentation and severity of co-morbidities vary greatly. Hundreds of genes and genomic loci have been identified to contribute to ASD susceptibility. Several genetic models have been proposed to explain the contribution of rare and/or common variants to ASD susceptibility. Subdividing ASD-affected individuals into more genetically or phenotypically homogeneous subgroups can help elucidate the relationship between clinical and genetic heterogeneity in ASD. In my thesis, I investigate the genetic and clinical heterogeneity in ASD subtypes using extensive phenotype information and rich genetic data from whole-genome sequencing (WGS). First, I developed a robust WGS analysis workflow to apply to subsequent studies. I contributed to identifying ASD candidate gene using a de novo variant approach by compiling a database of de novo variants from 4,807 ASD families. I conducted a comprehensive genetic and clinical characterization of one of these candidate genes, KMT2A, which revealed a characteristic phenotypic subtype of ASD. Lastly, I examined the genetic contribution of rare and common variants in ASD subtypes categorized based on morphology. Although rare variants have different effect sizes, traditional rare variant burden analyses assume they have similar impacts on ASD risk. To address this limitation, I developed a gene set-based rare variant score (GRS), which is a weighted sum of the number of rare variants in ASD-relevant gene sets and noncoding loci, weighted based on effect sizes. Using this approach, I found a greater burden of ASD-relevant rare variants in ASD probands with more morphological anomalies compared to those with fewer anomalies. In contrast, those with fewer morphological anomalies had a significant over-transmission of common variant risk. These findings reveal distinct contributions of rare and common variants in different morphological ASD subtypes, supporting a combined polygenic model for rare and common variants in ASD. The novel GRS method can be applied to future studies to better measure the impact of rare variants on susceptibility to ASD and other complex disorders. Data and WGS methods presented in this thesis will guide clinical genetic testing, genetic counseling and clinical management.

Identifying Biological Pathways Implicated in Defined Subgroups of Phenotypic Expression for Autism Spectrum Disorders & Evaluating Small Molecule Effects on Expression of ASMT

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ISBN 13 :
Total Pages : 114 pages
Book Rating : 4.:/5 (865 download)

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Book Synopsis Identifying Biological Pathways Implicated in Defined Subgroups of Phenotypic Expression for Autism Spectrum Disorders & Evaluating Small Molecule Effects on Expression of ASMT by : Olivia Jean Veatch

Download or read book Identifying Biological Pathways Implicated in Defined Subgroups of Phenotypic Expression for Autism Spectrum Disorders & Evaluating Small Molecule Effects on Expression of ASMT written by Olivia Jean Veatch and published by . This book was released on 2013 with total page 114 pages. Available in PDF, EPUB and Kindle. Book excerpt:

The Broad Autism Phenotype

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Publisher : Emerald Group Publishing
ISBN 13 : 1784416576
Total Pages : 142 pages
Book Rating : 4.7/5 (844 download)

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Book Synopsis The Broad Autism Phenotype by : Anthony F. Rotatori

Download or read book The Broad Autism Phenotype written by Anthony F. Rotatori and published by Emerald Group Publishing. This book was released on 2015-03-27 with total page 142 pages. Available in PDF, EPUB and Kindle. Book excerpt: This proposed volume will provide in-depth coverage about a construct known as the broad autism phenotype (BAP).

The ESSENCE of Autism and Other Neurodevelopmental Conditions

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Publisher : Jessica Kingsley Publishers
ISBN 13 : 1787754405
Total Pages : 146 pages
Book Rating : 4.7/5 (877 download)

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Book Synopsis The ESSENCE of Autism and Other Neurodevelopmental Conditions by : Christopher Gillberg

Download or read book The ESSENCE of Autism and Other Neurodevelopmental Conditions written by Christopher Gillberg and published by Jessica Kingsley Publishers. This book was released on 2021-04-21 with total page 146 pages. Available in PDF, EPUB and Kindle. Book excerpt: ESSENCE (Early Symptomatic Syndromes Eliciting Neurodevelopmental Clinical Examinations) refers to the group of neurodevelopmental disorders including autism, ADHD and tic disorders as well as conditions gaining increasing awareness such as ARFID, PANS and PANDAS. Professor of child psychiatry Christopher Gillberg describes the lifetime prognosis of ESSENCE, examining the common co-occurrence between these conditions and the symptoms they present. Whilst diagnoses are often treated in isolation, Gillberg presents these issues as an overall condition, and advises treatment and support based on a holistic approach. This book also demonstrates the need for holistic whole-person interventions and assessments to improve outcomes for people within this group.

Molecular Neuropathology

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Publisher : Cambridge University Press
ISBN 13 : 9780521425582
Total Pages : 204 pages
Book Rating : 4.4/5 (255 download)

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Book Synopsis Molecular Neuropathology by : Gareth W. Roberts

Download or read book Molecular Neuropathology written by Gareth W. Roberts and published by Cambridge University Press. This book was released on 1995-06-08 with total page 204 pages. Available in PDF, EPUB and Kindle. Book excerpt: This volume provides an introduction to the essential techniques required for studying the molecular biology of brain disease. The approaches and strategies for investigations of gene structure and regulation are described with reference to the molecular genetics of prion and Alzheimer's disease. The effects of aberrant gene regulation can also be examined at the protein level by immunocytochemistry and autoradiography. Improved understanding of basic biology has resulted in new approaches to animal models using transgenic techniques and new therapeutic approaches. The volume is structured to illustrate all these approaches and demonstrate the practice and promise of molecular neuropathology.

Psychoradiology, An Issue of Neuroimaging Clinics of North America, Ebook

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Publisher : Elsevier Health Sciences
ISBN 13 : 0323708870
Total Pages : 145 pages
Book Rating : 4.3/5 (237 download)

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Book Synopsis Psychoradiology, An Issue of Neuroimaging Clinics of North America, Ebook by : Qiyong Gong

Download or read book Psychoradiology, An Issue of Neuroimaging Clinics of North America, Ebook written by Qiyong Gong and published by Elsevier Health Sciences. This book was released on 2019-12-03 with total page 145 pages. Available in PDF, EPUB and Kindle. Book excerpt: This issue of Neuroimaging Clinics of North America focuses on Psychoradiology, and is edited by Dr. Qiyong Gong. Articles will include: Clinical Strategies and Technical Challenges in Psychoradiology; Resting State Functional MRI for Psychiatry; Magnetic Resonance Spectroscopy for Psychiatry; Psychoradiology of Major Depression; Psychoradiological Biomarkers for Psychopharmaceutical Effects; Implementing Imaging into Clinical Routine Screening for Psychosis; Imaging of Autism; Individual-specific Analysis for Psychoradiology; Interventional Psychoradiology: Imaging Guided Therapeutic Intervention of Neuropsychiatric Disorders; Imaging-based Subtyping for Psychiatric Syndromes; Imaging of Post-Traumatic Stress Disorder; Imaging of Schizophrenia; and more!

A Time for Metabolism and Hormones

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Publisher : Springer
ISBN 13 : 3319270699
Total Pages : 141 pages
Book Rating : 4.3/5 (192 download)

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Book Synopsis A Time for Metabolism and Hormones by : Paolo Sassone-Corsi

Download or read book A Time for Metabolism and Hormones written by Paolo Sassone-Corsi and published by Springer. This book was released on 2016-04-04 with total page 141 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Autism Spectrum Disorders

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Publisher : Oxford University Press
ISBN 13 : 0199707472
Total Pages : 1445 pages
Book Rating : 4.1/5 (997 download)

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Book Synopsis Autism Spectrum Disorders by : David Amaral

Download or read book Autism Spectrum Disorders written by David Amaral and published by Oxford University Press. This book was released on 2011-05-01 with total page 1445 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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 and the Environment

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Publisher : National Academies Press
ISBN 13 : 0309108810
Total Pages : 358 pages
Book Rating : 4.3/5 (91 download)

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Book Synopsis Autism and the Environment by : Institute of Medicine

Download or read book Autism and the Environment written by Institute of Medicine and published by National Academies Press. This book was released on 2008-03-12 with total page 358 pages. Available in PDF, EPUB and Kindle. Book excerpt: Autism spectrum disorders (ASD) constitute a major public health problem, affecting one in every 150 children and their families. Unfortunately, there is little understanding of the causes of ASD, and, despite their broad societal impact, many people believe that the overall research program for autism is incomplete, particularly as it relates to the role of environmental factors. The Institute of Medicine's Forum on Neuroscience and Nervous System Disorders, in response to a request from the U.S. Secretary of Health and Human Services, hosted a workshop called "Autism and the Environment: Challenges and Opportunities for Research." The focus was on improving the understanding of the ways in which environmental factors such as chemicals, infectious agents, or physiological or psychological stress can affect the development of the brain. Autism and the Environment documents the concerted effort which brought together the key public and private stakeholders to discuss potential ways to improve the understanding of the ways that environmental factors may affect ASD. The presentations and discussions from the workshop that are described in this book identify a number of promising directions for research on the possible role of different environmental agents in the etiology of autism.

Autism Spectrum Disorders in Infants and Toddlers

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Publisher : Guilford Press
ISBN 13 : 1606239708
Total Pages : 369 pages
Book Rating : 4.6/5 (62 download)

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Book Synopsis Autism Spectrum Disorders in Infants and Toddlers by : Katarzyna Chawarska

Download or read book Autism Spectrum Disorders in Infants and Toddlers written by Katarzyna Chawarska and published by Guilford Press. This book was released on 2010-05-19 with total page 369 pages. Available in PDF, EPUB and Kindle. Book excerpt: A review of the current science of identifying and treating autism spectrum disorders in young children examines research issues, approaches to assessment, and developmental, behavioral, and medical intervention models.

Autism Spectrum Disorders

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Publisher : OUP USA
ISBN 13 : 0195371828
Total Pages : 1445 pages
Book Rating : 4.1/5 (953 download)

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Book Synopsis Autism Spectrum Disorders by : David Amaral

Download or read book Autism Spectrum Disorders written by David Amaral and published by OUP USA. This book was released on 2011-06-17 with total page 1445 pages. Available in PDF, EPUB and Kindle. Book excerpt: Information about the symptoms, treatment, and research on Autism spectrum disorders including Autism and Asperger syndrome.

Brain Connectivity in Autism

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Publisher : Frontiers E-books
ISBN 13 : 2889192822
Total Pages : 265 pages
Book Rating : 4.8/5 (891 download)

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Book Synopsis Brain Connectivity in Autism by : Rajesh K. Kana

Download or read book Brain Connectivity in Autism written by Rajesh K. Kana and published by Frontiers E-books. This book was released on 2014-09-23 with total page 265 pages. Available in PDF, EPUB and Kindle. Book excerpt: The brain's ability to process information crucially relies on connectivity. Understanding how the brain processes complex information and how such abilities are disrupted in individuals with neuropsychological disorders will require an improved understanding of brain connectivity. Autism is an intriguingly complex neurodevelopmental disorder with multidimensional symptoms and cognitive characteristics. A biological origin for autism spectrum disorders (ASD) had been proposed even in the earliest published accounts (Kanner, 1943; Asperger, 1944). Despite decades of research, a focal neurobiological marker for autism has been elusive. Nevertheless, disruptions in interregional and functional and anatomical connectivity have been a hallmark of neural functioning in ASD. Theoretical accounts of connectivity perceive ASD as a cognitive and neurobiological disorder associated with altered functioning of integrative circuitry. Neuroimaging studies have reported disruptions in functional connectivity (synchronization of activated brain areas) during cognitive tasks and during task-free resting states. While these insights are valuable, they do not address the time-lagged causality and directionality of such correlations. Despite the general promise of the connectivity account of ASD, inconsistencies and methodological differences among studies call for more thorough investigations. A comprehensive neurological account of ASD should incorporate functional, effective, and anatomical connectivity measures and test the diagnostic utility of such measures. In addition, questions pertaining to how cognitive and behavioral intervention can target connection abnormalities in ASD should be addressed. This research topic of the Frontiers in Human Neuroscience addresses “Brain Connectivity in Autism” primarily from cognitive neuroscience and neuroimaging perspectives.

Is autism a biological entity?

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Publisher : Frontiers Media SA
ISBN 13 : 2832524222
Total Pages : 109 pages
Book Rating : 4.8/5 (325 download)

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Book Synopsis Is autism a biological entity? by : Lynn Waterhouse

Download or read book Is autism a biological entity? written by Lynn Waterhouse and published by Frontiers Media SA. This book was released on 2023-05-26 with total page 109 pages. Available in PDF, EPUB and Kindle. Book excerpt: