Autism spectrum disorders: autistic phenotypes and complicated mechanisms
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REVIEW ARTICLE
Autism spectrum disorders: autistic phenotypes and complicated mechanisms Xi‑Cheng Zhang1,2 · Li‑Qi Shu3 · Xing‑Sen Zhao1,2 · Xue‑Kun Li1,2 Received: 9 November 2017 / Accepted: 12 November 2018 © Children’s Hospital, Zhejiang University School of Medicine 2019
Abstract Background Autism spectrum disorder (ASD), a pervasive developmental neurological disorder, is characterized by impairments in social interaction and communication, and stereotyped, repetitive patterns of interests or behaviors. The mechanism of ASDs is complex, and genetic components and epigenetic modifications play important roles. In this review, we summarized the recent progresses of ASDs focusing on the genetic and epigenetic mechanisms. We also briefly discussed current animal models of ASD and the application of high-throughput sequencing technologies in studying ASD. Data sources Original research articles and literature reviews published in PubMed-indexed journals. Results Individuals with ASDs exhibit a set of phenotypes including neurological alteration. Genetic components including gene mutation, copy-number variations, and epigenetic modifications play important and diverse roles in ASDs. The establishment of animal models and development of new-generation sequencing technologies have contributed to reveal the complicated mechanisms underlying autistic phenotypes. Conclusions Dramatic progress has been made for understanding the roles of genetic and epigenetic components in ASD. Future basic and translational studies should be carried out towards those candidate therapeutic targets. Keywords Autism spectrum disorders · Genetics · Epigenetics · CNV · Next-generation sequencing
Introduction In 1943, the psychiatrist Leo Kanner first described 11 children as enclosure in one’s self in his article “Autistic disturbances of affective contact” [1]. Now, we know the symptoms described by Kanner which converge to the diagnosis of a group of neurodevelopmental conditions and autism spectrum disorders (ASDs). According to the fifth edition of the diagnostic and statistical manual of mental disorders Electronic supplementary material The online version of this article (https://doi.org/10.1007/s12519-018-0210-2) contains supplementary material, which is available to authorized users. * Xue‑Kun Li [email protected] 1
Children’s Hospital, Zhejiang University School of Medicine, Hangzhou 310003, China
2
Institute of Translational Medicine, School of Medicine, Zhejiang University, Hangzhou 310029, China
3
School of Medicine and Health Sciences, George Washington University, Washington, DC, USA
[2], the definition of ASD has changed from “classical autistic disorder, Asperger’s syndrome, pervasive developmental disorders not otherwise specified, and childhood disintegrative disorder” to “a symptom structure incorporating all these disorders into one ASD umbrella term with different severity levels”. Individuals with ASDs are characterized by impairments in social interaction and communication, and stereotyped
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