GENE-ENVIRONMENT INTERACTION AND THE AUTISM SPECTRUM DISORDER

Introduction: Autism spectrum disorder is characterized by impaired social interaction, communication difficulties, and behavioral disturbances. Its prevalence is rising and is currently estimated at 1.4%. In terms of etiology, genetic causes account for more than 60%, primarily due to copy number variants (CNVs) or monogenic variants, which can be identified through chromosomal microarray analysis or next-generation sequencing. On the other hand, it has been proposed that gene–environment–epigenome interaction, involving the additive action of multiple genes in the presence of a trait, or alterations in the epigenome—which may themselves be determined by the genome or, in some cases, as a result of interaction with the environment such as the microbiome—are mechanisms that may underlie the presence of this neurodevelopmental disorder. Determining its etiology and understanding the underlying pathophysiological processes will help identify the risk of familial and individual recurrence, inform prognosis, and potentially guide the development of personalized therapeutic strategies.