Correction published on 19 September 2016,
see
Int. J. Mol. Sci. 2016, 17(9), 1572.
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
Int. J. Mol. Sci. 2016, 17(2), 180; https://doi.org/10.3390/ijms17020180
Received: 9 December 2015 / Revised: 19 January 2016 / Accepted: 26 January 2016 / Published: 29 January 2016
(This article belongs to the Special Issue The Identification of the Genetic Components of Autism Spectrum Disorders 2017)
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.
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Keywords:
multifactorial inheritance; genetic testing; diagnostic yield; copy number variants; gene sequencing; genomics
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MDPI and ACS Style
Schaefer, G.B. Clinical Genetic Aspects of Autism Spectrum Disorders. Int. J. Mol. Sci. 2016, 17, 180. https://doi.org/10.3390/ijms17020180
AMA Style
Schaefer GB. Clinical Genetic Aspects of Autism Spectrum Disorders. International Journal of Molecular Sciences. 2016; 17(2):180. https://doi.org/10.3390/ijms17020180
Chicago/Turabian StyleSchaefer, G. B. 2016. "Clinical Genetic Aspects of Autism Spectrum Disorders" Int. J. Mol. Sci. 17, no. 2: 180. https://doi.org/10.3390/ijms17020180
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