Genetic Characteristics Of Savant Syndrome Among People With Autism
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Genetic Characteristics Of Savant Syndrome Among People With Autism
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Author : Hila Rosenthal
language : en
Publisher:
Release Date : 2018
Genetic Characteristics Of Savant Syndrome Among People With Autism written by Hila Rosenthal and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 2018 with categories.
Background: Savant skills, which are defined as "outstanding skills in individuals with otherwise intellectual impairment," are significantly more common in individuals with autism spectrum disorders (ASD) than in any other group of people examined to date. The existence of such a considerable and well-defined group of extremely talented people within the autism spectrum suggests common underlying mechanisms that require further exploration. Therefore, we hypothesized that autistic children with savant skills will have different genetic architecture than other children with ASD. Methods: To explore this hypothesis, we compared the characteristics of copy-number variations (CNVs) and single-nucleotide variants (SNVs) between savant and non-savant children with ASD from the Simons Simplex Collection (SSC) dataset (n=1104 children). Children with savant skills were determined as those reported to have current exceptional talent in at least one of the following areas: music, drawing, arithmetic skills, reading or spatial vision. We evaluated the differences in behavioral, clinical and genetic characteristics between the savant and non-savant groups, as well as between groups of autistic children with different talents, using both univariate and multivariate statistical analyses. Results: A total of 352 (31.9%) children with ASD manifested at least one exceptional savant skill. These children had, on average, higher IQ level and tended to be evaluated by higher communicative-social modules. After accounting to these parameters, CNV burden was associated with several savant skills. Specifically, the size of rare copy deletions was significantly smaller among children with extraordinary computational skills compared to non-savant subjects as well as compared to subjects with other abilities. In addition, children who had exceptional reading ability had significantly smaller duplications compared to children with other abilities. Furthermore, the prevalence of SNVs was greater in the non-savant group than in the savant groups, but contrary to our hypothesis, there were no significant differences in SNVs count between these groups. Nevertheless, pathway analysis of genes containing these SNVs, revealed three pathways (REACTOME_PATHWAY, KEGG_PATHWAY, GOTERM_CC_DIRECT) that were enriched with SNVs among the savant group. Discussion: Our results suggest that genomic burden of CNVs contributes to susceptibility of specific savant skills among children with autism beyond the contribution of these CNVs to the observed intellectual and behavioral differences between savant and nonsavant children with ASD. In addition, the enrichment of de-novo SNVs in three pathways only among the savant group suggest a further genetic contribution to savant syndrome among people with ASD. These findings highlight the potential role of different genetic mechanisms in the predisposition of exceptional talents among children with ASD. -- Abstract.
Autism Spectrum Disorders
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Author : Ana María Rodríguez
language : en
Publisher: Twenty-First Century Books
Release Date : 2011-01-01
Autism Spectrum Disorders written by Ana María Rodríguez and has been published by Twenty-First Century Books this book supported file pdf, txt, epub, kindle and other format this book has been release on 2011-01-01 with Young Adult Nonfiction categories.
Every year, one out of every 100 children in the United States—or six out of every 1,000 young people worldwide—is diagnosed with autism. Autism spectrum disorders (ASD) are a neurologically based family of developmental disorders that can impact people’s communication and social skills. ASD includes both autism and Asperger syndrome. Cutting-edge research and scientific studies are probing into the genetic foundation of ASD. Quoting researcher Stephen Scherer about a recent study, USA TODAY, the Nation’s No. 1 Newspaper, notes that, “most individuals with autism are probably genetically quite unique.” In this book, you’ll find out what it’s like to have ASD through reading case studies of people living with the condition. You’ll also learn about the impact of the disorders on families. In addition, you’ll receive solid information about symptoms, treatment, and research and get the facts you need about how you, your friends, and your family can cope effectively with ASD.
An A Z Of Genetic Factors In Autism
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Author : Kenneth J. Aitken
language : en
Publisher: Jessica Kingsley Publishers
Release Date : 2010
An A Z Of Genetic Factors In Autism written by Kenneth J. Aitken and has been published by Jessica Kingsley Publishers this book supported file pdf, txt, epub, kindle and other format this book has been release on 2010 with Psychology categories.
The book covers the main genetic disorders associated with autism, including those linked to growth differences, neurodevelopmental problems, gastrointestinal disturbances epilepsy and many others. It alphabetically lists the conditions next to information about how common they are, causes, signs, symptoms, and methods of treatment and management.
Islands Of Genius
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Author : Darold A. Treffert
language : en
Publisher: Jessica Kingsley Publishers
Release Date : 2011-10-12
Islands Of Genius written by Darold A. Treffert and has been published by Jessica Kingsley Publishers this book supported file pdf, txt, epub, kindle and other format this book has been release on 2011-10-12 with Psychology categories.
In this fascinating book, Dr. Treffert looks at what we know about savant syndrome, and at new discoveries that raise interesting questions about the hidden brain potential within us all. He looks both at how savant skills can be nurtured, and how they can help the person who has them, particularly if that person is on the autism spectrum.
Advances In Vasopressin And Oxytocin From Genes To Behaviour To Disease
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Author : Rainer Landgraf
language : en
Publisher: Elsevier
Release Date : 2008-09-10
Advances In Vasopressin And Oxytocin From Genes To Behaviour To Disease written by Rainer Landgraf and has been published by Elsevier this book supported file pdf, txt, epub, kindle and other format this book has been release on 2008-09-10 with Science categories.
Vasopressin and oxytocin are the key hormones of the hypothalamo-neurohypophysial system, and are well-known to be critically involved in antidiuresis, labor, and milk ejection. This book highlights the latest research on vasopressin and oxytocin, covering multiple biological aspects. The capacity of both hormones to regulate various aspects of social behaviours including pair-bonding, aggression, maternal love, and sexual behaviour, is a main focus, as are their interactions with a variety of other neuromodulators and transmitters. Moreover, the book illustrates the recent development of vasopressin and oxytocin agonists/antagonists as potential drugs to treat not only disturbances of body fluid homeostasis, but also mental disorders, including social phobia, autism, anxiety, and depression. The promising combination of basic and clinical research, comprising physiology, neuroendocrinology, behavioral biology, pharmacology, imaging and molecular genetics makes this book an essential addition to both experts and scientists new to the field alike. Comprehensive review of OXT and AVP physiology and behaviour Each chapter covers a novel aspect of OXT and AVP research and is written by a leading expert Review articles are ideal for experts and newcomers to the field alike Discusses fascinating behavioural effects of oxytocin and vasopressin Summarizes the recent explosion of neuropeptide research, physiology and behaviour, is in one location
Autism And Talent
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Author : Francesca Happé
language : en
Publisher: OUP Oxford
Release Date : 2010-03-18
Autism And Talent written by Francesca Happé and has been published by OUP Oxford this book supported file pdf, txt, epub, kindle and other format this book has been release on 2010-03-18 with Art categories.
"Originating from a theme issue first published in Philosophical transactions of the Royal Society. B, Biological sciences."
An A Z Of Genetic Factors In Autism
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Author : Kenneth Aitken
language : en
Publisher: Jessica Kingsley Publishers
Release Date : 2011-04-15
An A Z Of Genetic Factors In Autism written by Kenneth Aitken and has been published by Jessica Kingsley Publishers this book supported file pdf, txt, epub, kindle and other format this book has been release on 2011-04-15 with Psychology categories.
Our understanding of the biological bases to the autistic spectrum disorders (ASDs) is advancing rapidly. Over 80 genetic conditions have now been reported in people who have also been diagnosed with ASDs. Many of these conditions have specific implications for the presenting phenotype and for treatment, management, and intervention. If the basis to the presenting behavioural phenotype is not identified, this can result in a sub-optimal level of care, complications, or even permanent damage. Kenneth J. Aitken shows that the notion of a single condition known as 'autism' is no longer tenable, and challenges current trends in the diagnosis and management of these behaviours as a homogenous group by drawing on recent research into brain function, genetics, epidemiology and neurology. This volume explains the biology and genetics of ASD, and provides clinicians and researchers with a comprehensive summary of each genetic factor including the research that links it to ASD, diagnosis and treatment issues, and related animal models, as well as detailing relevant professional organisations and avenues for further research. An A-Z of Genetic Factors in Autism is an essential resource for a wide range of researchers, clinical professionals and students interested in autism spectrum disorders, including clinical and educational psychologists, dieticians, psychiatrists, and neurologists.
Twice Exceptional
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Author : Scott Barry Kaufman
language : en
Publisher: Oxford University Press
Release Date : 2018-01-02
Twice Exceptional written by Scott Barry Kaufman 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 2018-01-02 with Education categories.
In an educational system founded on rigid standards and categories, students who demonstrate a very specific manifestation of intelligence flourish, while those who deviate tend to fall between the cracks. Too often, talents and interests that do not align with classroom conventions are left unrecognized and unexplored in children with extraordinary potential but little opportunity. For twice-exceptional (2e) children, who have extraordinary strengths coupled with learning difficulties, the problem is compounded by the paradoxical nature of their intellect and an unbending system, ill-equipped to cater to their unique learning needs. Twice Exceptional: Supporting and Educating Bright and Creative Students with Learning Difficulties provides cutting-edge, evidence-based approaches to creating an environment where twice-exceptional students can thrive. Viewing the 2e student as neither exclusively disabled nor exclusively gifted, but, rather, as a dynamic interaction of both, leading experts offer holistic insight into identification, social-emotional development, advocacy, and support for 2e students. With chapters focusing on special populations (including autism, dyslexia, and ADHD) as well as the intersection of race and 2e, this book highlights practical recommendations for school and social contexts. In expounding the unique challenges faced by the 2e population, Twice Exceptional makes a case for greater flexibility in our approach to education and a wider notion of what it means to be academically successful.
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.
Rev. ed. of: Biology of the autistic syndromes / Christopher Gillberg, Mary Coleman. 3rd ed. 2000.
The Science Of Expertise
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Author : David Z. Hambrick
language : en
Publisher: Routledge
Release Date : 2017-09-22
The Science Of Expertise written by David Z. Hambrick and has been published by Routledge this book supported file pdf, txt, epub, kindle and other format this book has been release on 2017-09-22 with Psychology categories.
Offering the broadest review of psychological perspectives on human expertise to date, this volume covers behavioral, computational, neural, and genetic approaches to understanding complex skill. The chapters show how performance in music, the arts, sports, games, medicine, and other domains reflects basic traits such as personality and intelligence, as well as knowledge and skills acquired through training. In doing so, this book moves the field of expertise beyond the duality of "nature vs. nurture" toward an integrative understanding of complex skill. This book is an invaluable resource for researchers and students interested in expertise, and for professionals seeking current reviews of psychological research on expertise.
