Research progress in the pathogenesis of autism spectrum disorder

Corresponding author: PEI Pei, 510576635@qq.com

DOI: 10.12201/bmr.202606.00056

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  Abstract: Autism spectrum disorder (ASD) is a neurodevelopmental disorder commonly identified in early childhood, with highly complex and heterogeneous pathogenesis. In recent years, increasing attention has been paid to mechanisms including genetic susceptibility, environmental exposure, neuroimmune abnormalities, metabolic reprogramming, and alterations in neural circuits and synaptic function. However, the interrelationships among these mechanisms, the critical developmental windows involved, and their clinical translational value remain to be further clarified. This article systematically reviews recent advances in the pathogenesis of ASD, focusing on the interaction between genetic susceptibility and environmental exposure, developmental window dependence, neuroimmune and metabolic abnormalities, and alterations in neural circuits and synaptic function, with the aim of providing a theoretical basis for early identification, risk assessment, exploration of potential intervention targets, and development of individualized intervention strategies for ASD.

  Key words: Autism Spectrum Disorder; Pathogenesis; Gene-environment Interaction; Neurodevelopment; Early Intervention

  Submit time: 16 June 2026

  Copyright: The copyright holder for this preprint is the author/funder, who has granted biomedRxiv a license to display the preprint in perpetuity.
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  1	2026-05-08	10.12201/bmr.202606.00056V1	Download

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