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Psychiatry Clin Neurosci. 2018 Apr;72(4):228-244. doi: 10.1111/pcn.12606. Epub 2017 Nov 13.

Genetics and epigenetics of autism: A Review.

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The Nethersole School of Nursing, The Croucher Laboratory for Human Genomics, The Chinese University of Hong Kong, Hong Kong SAR, China.


Autism is a developmental disorder that starts before age 3 years, and children with autism have impairment in both social interaction and communication, and have restricted, repetitive, and stereotyped patterns of behavior, interests, and activities. There is a strong heritable component of autism and autism spectrum disorder (ASD) as studies have shown that parents who have a child with ASD have a 2-18% chance of having a second child with ASD. The prevalence of autism and ASD have been increasing during the last 3 decades and much research has been carried out to understand the etiology, so as to develop novel preventive and treatment strategies. This review aims at summarizing the latest research studies related to autism and ASD, focusing not only on the genetics but also some epigenetic findings of autism/ASD. Some promising areas of research using transgenic/knockout animals and some ideas related to potential novel treatment and prevention strategies will be discussed.


autistic spectrum disorder; environmental risk factors; genetic interaction; pharmacopsychiatry; potential drug targets

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