Genetic and Epigenetic Aspects Linked to The Etiology of Autism

Abstract

Autism is a childhood-onset neurodevelopmental disorder characterized by high heritability, a complex genetic basis, and a wide range of phenotypic expressions. Its etiology is identified in a significant proportion of cases and may involve chromosomal abnormalities, pathogenic variations in several genes, or environmental factors. However, in many cases, the underlying causes remain unexplained, even after comprehensive genetic testing in accordance with ACMG (American College of Medical Genetics and Genomics) guidelines. The complex phenotype of autism includes a "core triad" of symptoms—impaired social interaction, restricted and repetitive behaviors—often accompanied by additional conditions such as language impairments, intellectual disability, epilepsy, hyperactivity, anxiety, and various other comorbidities. In this paper, I aim to explore the interplay between genetic, epigenetic, and environmental factors to better understand the potential pathogenic mechanisms underlying this disorder, which continues to show a rising global prevalence.