# Emerging Epigenetic Therapeutics and Diagnostics for Autism Spectrum Disorder

**Authors:** Cassie Kao, Kim Kiat Lim, Ee Sin Chen

PMC · DOI: 10.3390/cimb47070491 · 2025-06-27

## TL;DR

This review explores how epigenetic changes may contribute to autism and highlights new diagnostic and treatment approaches.

## Contribution

The paper introduces emerging epigenetic therapeutics and diagnostics for autism spectrum disorder.

## Key findings

- Epigenetic dysregulation is linked to autism development.
- Non-invasive tests and personalized medicine could improve autism management.
- Preventive strategies for mothers may reduce ASD impact at birth.

## Abstract

Autism spectrum disorder (ASD) is a complex neurological and developmental condition that occurs in approximately 1 in 100 children. ASD is a lifelong condition defined by difficulties with social communication, restricted interests, and repetitive behaviors, among other symptoms. Currently, we understand that there is no cure and the disorder can only be managed with occupational therapy alongside limited medical treatments. Reasons underlying the pathogenesis of ASD are still not well understood, but recent studies point to the influence of epigenetic dysregulation in ASD development, which opens up avenues to novel diagnosis and treatment options. In this review, we summarize recent findings and emerging therapeutics for ASD, with a focus on implications of epigenetic regulatory pathways and factors. We expound the implications of these findings to enable preventive measurements for mothers to reduce the impact of ASD at birth, non-invasive diagnostic tests for early detection, and personalized medicine management. Finally, we discuss several critical issues to be addressed and future directions of this important research field.

## Linked entities

- **Diseases:** autism spectrum disorder (MONDO:0005258)

## Full-text entities

- **Diseases:** condition (MESH:D020763), ASD (MESH:D000067877), repetitive behaviors (MESH:D001523), difficulties (MESH:D051346)

## Figures

4 figures with captions in the complete paper: https://tomesphere.com/paper/PMC12293627/full.md

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Source: https://tomesphere.com/paper/PMC12293627