Innovative Study Investigates Neural, Epigenetic, and Behavioral Contributions to Autism Spectrum Disorder

Autism spectrum disorder (ASD) is a complex neurodevelopmental condition affecting approximately 1 in 127 individuals globally. It manifests through atypical brain development, leading to differences in communication, social interactions, behavioral patterns, and sensory processing. Recognizing the multifaceted nature of ASD, recent research emphasizes the interplay of genetic, epigenetic, neural, and environmental factors.

A recent study conducted by scientists at the Korea Brain Research Institute and the University of Fukui in Japan provided deeper insights into these contributing elements. The researchers focused on brain structure, neural connectivity, epigenetic modifications, and behavioral responses. Their findings, published in Translational Psychiatry, contribute to a better understanding of the disorder's intricate mechanisms and pave the way for more precise diagnostic tools.

The researchers highlighted the heterogeneity of ASD, noting its association with abnormal behavioral responses to sensory stimuli. Despite advances, there remains limited understanding of how the combined effects of brain and epigenetic factors, along with behavioral abnormalities, influence ASD.

To explore these dimensions, the team conducted an experiment involving 34 individuals diagnosed with ASD and 72 neurotypical controls. Participants completed the Adolescent-Adult Sensory Profile, a questionnaire assessing sensory responses. Subsequently, neuroimaging techniques measured brain volume and functional connectivity at rest, while saliva samples provided data on epigenetic markers, specifically DNA methylation levels of oxytocin and vasopressin receptor genes.

The collected data were analyzed using machine learning models to evaluate the contribution of neural, epigenetic, and behavioral factors to ASD. Notably, models integrating all three dimensions predicted ASD diagnosis more accurately than models based on individual factors. Key findings included thalamo-cortical hyperconnectivity and epigenetic modifications of the AVPR1A gene as significant contributors.

These insights suggest that combining neuroimaging, epigenetic biomarkers, and behavioral assessments could enhance diagnostic precision. The research team anticipates that such multidimensional approaches will facilitate the development of advanced machine learning tools to support early and accurate ASD diagnosis, ultimately improving intervention strategies.

This study underscores the importance of understanding the complex interactions among various factors contributing to ASD and offers promising avenues for future research and clinical application. Source: https://medicalxpress.com/news/2025-10-explores-contribution-neural-epigenetic-behavioral.html