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Correction published on 19 September 2016, see Int. J. Mol. Sci. 2016, 17(9), 1572.

Open AccessReview
Int. J. Mol. Sci. 2016, 17(2), 180; doi:10.3390/ijms17020180

Clinical Genetic Aspects of Autism Spectrum Disorders

University of Arkansas for Medical Sciences, Arkansas Children’s Hospital, 1 Children’s Way, Slot 512-22, Little Rock, AR 72202, USA
Academic Editor: Merlin G. Butler
Received: 9 December 2015 / Revised: 19 January 2016 / Accepted: 26 January 2016 / Published: 29 January 2016
View Full-Text   |   Download PDF [383 KB, uploaded 19 September 2016]   |  

Abstract

Early presumptions opined that autism spectrum disorder (ASD) was related to the rearing of these children by emotionally-distant mothers. Advances in the 1960s and 1970s clearly demonstrated the biologic basis of autism with a high heritability. Recent advances have demonstrated that specific etiologic factors in autism spectrum disorders can be identified in 30%–40% of cases. Based on early reports newer, emerging genomic technologies are likely to increase this diagnostic yield to over 50%. To date these investigations have focused on etiologic factors that are largely mono-factorial. The currently undiagnosed causes of ASDs will likely be found to have causes that are more complex. Epigenetic, multiple interacting loci, and four dimensional causes (with timing as a variable) are likely to be associated with the currently unidentifiable cases. Today, the “Why” is more important than ever. Understanding the causes of ASDs help inform families of important issues such as recurrence risk, prognosis, natural history, and predicting associated co-morbid medical conditions. In the current era of emerging efforts in “personalized medicine”, identifying an etiology will be critical in identifying endo-phenotypic groups and individual variations that will allow for tailored treatment for persons with ASD. View Full-Text
Keywords: multifactorial inheritance; genetic testing; diagnostic yield; copy number variants; gene sequencing; genomics multifactorial inheritance; genetic testing; diagnostic yield; copy number variants; gene sequencing; genomics
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Schaefer, G.B. Clinical Genetic Aspects of Autism Spectrum Disorders. Int. J. Mol. Sci. 2016, 17, 180.

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