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World Journal of Pediatrics
Published in: World Journal of Pediatrics 1/2019

01-02-2019 | Autism Spectrum Disorder | Review Article

Autism spectrum disorders: autistic phenotypes and complicated mechanisms

Authors: Xi-Cheng Zhang, Li-Qi Shu, Xing-Sen Zhao, Xue-Kun Li

Published in: World Journal of Pediatrics | Issue 1/2019

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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.
Appendix
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Metadata
Title
Autism spectrum disorders: autistic phenotypes and complicated mechanisms
Authors
Xi-Cheng Zhang
Li-Qi Shu
Xing-Sen Zhao
Xue-Kun Li
Publication date
01-02-2019
Publisher
Childrens Hospital, Zhejiang University School of Medicine
Published in
World Journal of Pediatrics / Issue 1/2019
Print ISSN: 1708-8569
Electronic ISSN: 1867-0687
DOI
https://doi.org/10.1007/s12519-018-0210-2

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