Recent Advances in Autism Spectrum Disorder Research on Epigenetics and Personalised Medicine

ABSTRACT Background Autism spectrum disorder (ASD) is a multifaceted neurodevelopmental condition characterised by impairments in social interaction and communication, repetitive and restricted patterns of behaviour and atypical sensory processing. Although genetic susceptibility accounts for a substantial proportion of ASD risk, increasing evidence indicates that epigenetic modifications and environmental exposures play pivotal roles in disease development and progression. Purpose This review provides an updated overview of the current understanding of ASD pathogenesis, focusing on the interplay between epigenetic regulation, maternal health and the gut microbiome. It also highlights emerging diagnostic biomarkers and therapeutic strategies that have the potential to enhance early diagnosis and improve clinical management. Main Findings Recent studies indicate that maternal immune dysregulation, nutritional status, metabolic disorders and alterations in the maternal gut microbiota during pregnancy may contribute to ASD risk by inducing epigenetic changes and disrupting neurodevelopmental pathways. At the same time, novel pharmacological interventions aimed at alleviating behavioural symptoms and targeting epigenetic mechanisms are being actively explored. Advances in diagnostic technologies, including saliva‐based microRNA profiling and epigenetic biomarkers, offer promising opportunities for earlier and more accurate ASD detection. Furthermore, genome‐wide analyses and multi‐omics approaches are facilitating the development of personalised diagnostic and therapeutic strategies. Conclusion Despite considerable progress in elucidating the genetic and environmental factors associated with ASD, the disorder remains highly heterogeneous and biologically complex. Future research integrating epigenetic insights, microbiome investigations and precision medicine approaches will be crucial for uncovering the underlying molecular mechanisms and translating these discoveries into more effective diagnostic tools and targeted therapies.