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      A Short Review on the Current Understanding of Autism Spectrum Disorders

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          Abstract

          Autism spectrum disorder (ASD) is a set of neurodevelopmental disorders characterized by a deficit in social behaviors and nonverbal interactions such as reduced eye contact, facial expression, and body gestures in the first 3 years of life. It is not a single disorder, and it is broadly considered to be a multi-factorial disorder resulting from genetic and non-genetic risk factors and their interaction. Genetic studies of ASD have identified mutations that interfere with typical neurodevelopment in utero through childhood. These complexes of genes have been involved in synaptogenesis and axon motility. Recent developments in neuroimaging studies have provided many important insights into the pathological changes that occur in the brain of patients with ASD in vivo. Especially, the role of amygdala, a major component of the limbic system and the affective loop of the cortico-striatothalamo-cortical circuit, in cognition and ASD has been proved in numerous neuropathological and neuroimaging studies. Besides the amygdala, the nucleus accumbens is also considered as the key structure which is related with the social reward response in ASD. Although educational and behavioral treatments have been the mainstay of the management of ASD, pharmacological and interventional treatments have also shown some benefit in subjects with ASD. Also, there have been reports about few patients who experienced improvement after deep brain stimulation, one of the interventional treatments. The key architecture of ASD development which could be a target for treatment is still an uncharted territory. Further work is needed to broaden the horizons on the understanding of ASD.

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          Most cited references111

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          Diagnostic and statistical manual of mental disorders.

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            Parallel organization of functionally segregated circuits linking basal ganglia and cortex.

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              Association between microdeletion and microduplication at 16p11.2 and autism.

              Autism spectrum disorder is a heritable developmental disorder in which chromosomal abnormalities are thought to play a role. As a first component of a genomewide association study of families from the Autism Genetic Resource Exchange (AGRE), we used two novel algorithms to search for recurrent copy-number variations in genotype data from 751 multiplex families with autism. Specific recurrent de novo events were further evaluated in clinical-testing data from Children's Hospital Boston and in a large population study in Iceland. Among the AGRE families, we observed five instances of a de novo deletion of 593 kb on chromosome 16p11.2. Using comparative genomic hybridization, we observed the identical deletion in 5 of 512 children referred to Children's Hospital Boston for developmental delay, mental retardation, or suspected autism spectrum disorder, as well as in 3 of 299 persons with autism in an Icelandic population; the deletion was also carried by 2 of 18,834 unscreened Icelandic control subjects. The reciprocal duplication of this region occurred in 7 affected persons in AGRE families and 4 of the 512 children from Children's Hospital Boston. The duplication also appeared to be a high-penetrance risk factor. We have identified a novel, recurrent microdeletion and a reciprocal microduplication that carry substantial susceptibility to autism and appear to account for approximately 1% of cases. We did not identify other regions with similar aggregations of large de novo mutations. Copyright 2008 Massachusetts Medical Society.
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                Author and article information

                Journal
                Exp Neurobiol
                Exp Neurobiol
                EN
                Experimental Neurobiology
                The Korean Society for Brain and Neural Science
                1226-2560
                2093-8144
                February 2016
                28 January 2016
                : 25
                : 1
                : 1-13
                Affiliations
                [1 ]Department of Neurosurgery, Seoul National University Hospital, Seoul 03080, Korea.
                [2 ]Department of Nuclear Medicine, Seoul National University College of Medicine, Seoul 03080, Korea.
                [3 ]Division of Child and Adolescent Psychiatry, Department of Psychiatry, Seoul National University College of Medicine, Seoul 03080, Korea.
                [4 ]Center for Functional Connectomics, Korea Institute of Science and Technology (KIST), Seoul 02792, Korea.
                Author notes
                To whom correspondence should be addressed. TEL: 82-2-2072-3993, 82-2-2072-3957, FAX: 82-2-744-8459, 82-2-747-3799, paeksh@ 123456snu.ac.kr
                Article
                10.5607/en.2016.25.1.1
                4766109
                26924928
                b86e3af9-37eb-4326-a826-33bfcd2b5510
                Copyright © Experimental Neurobiology 2016.

                This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License ( http://creativecommons.org/licenses/by-nc/4.0) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

                History
                : 23 November 2015
                : 18 December 2015
                : 30 December 2015
                Funding
                Funded by: Korea Institute of Planning and Evaluation for Technology in Food, Agriculture, Forestry and Fisheries, CrossRef http://dx.doi.org/10.13039/501100003668;
                Award ID: 311011-05-3-SB020
                Award ID: HI11C21100200
                Funded by: Ministry of Health and Welfare, CrossRef http://dx.doi.org/10.13039/501100003625;
                Award ID: 10050154
                Funded by: Ministry of Trade, Industry and Energy, CrossRef http://dx.doi.org/10.13039/501100003052;
                Funded by: National Research Foundation of Korea, CrossRef http://dx.doi.org/10.13039/501100003725;
                Award ID: 2015M3C7A1028926
                Categories
                Review Article

                Neurosciences
                autistic disorders,review,neurobiology,amygdala
                Neurosciences
                autistic disorders, review, neurobiology, amygdala

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