Pathogenesis of autism spectrum disorder from an epigenetic perspective

WU Yuxin; JI Youyou; LI Yutong; WU Yinan; XU Ronglin; ZHONG Yi; XIAO Bin

doi:10.11852/zgetbjzz2025-0118

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Chinese Journal of Child Health Care ›› 2026, Vol. 34 ›› Issue (2) : 222-226. DOI: 10.11852/zgetbjzz2025-0118

Review

Pathogenesis of autism spectrum disorder from an epigenetic perspective

WU Yuxin¹, JI Youyou¹, LI Yutong¹, WU Yinan¹, XU Ronglin², ZHONG Yi¹, XIAO Bin³

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Abstract

Autism spectrum disorder (ASD) is a heterogeneous neurodevelopmental condition with complex etiology involving dysregulated epigenetic mechanisms arising from gene-environment interactions.This review systematically examines the contributions of natural, chemical, and biological environmental exposures to ASD risk.It further analyzes the potential role of parental factors such as parental occupation, age, and history of metabolic diseases.The review focuses on three major epigenetic mechanisms: DNA methylation, histone modifications, and non-coding RNA dysregulation, elucidating their aberrant regulation during critical neurodevelopmental windows and their associations with core ASD symptoms, including social communication deficits and restricted repetitive behaviors, which provides a theoretical basis for the in-depth analysis of the pathogenesis of ASD and the development of targeted intervention strategies.

Key words

autism spectrum disorder / epigenetics / DNA methylation / histone modification

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WU Yuxin, JI Youyou, LI Yutong, WU Yinan, XU Ronglin, ZHONG Yi, XIAO Bin. Pathogenesis of autism spectrum disorder from an epigenetic perspective[J]. Chinese Journal of Child Health Care. 2026, 34(2): 222-226 https://doi.org/10.11852/zgetbjzz2025-0118

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