Autism Spectrum Disorder: A Review of Genomic Risk Factors, Diagnostic and Pharmacotherapeutic Strategies

Abstract: Autism Spectrum Disorder (ASD) is a multifactorial neurodevelopmental condition characterized by impairments in social communication and delayed language development, repetitive behaviors, and sensory processing abnormalities. The genetic background of ASD remains incompletely understood due to significant genetic heterogeneity and complexity. This review aims to present current insights into the genetic landscape of ASD, focusing on both common and rare genomic variations. We describe candidate genes associated with ASD, as they are involved in synaptic function and neuronal signaling, making these findings potential therapeutic targets. This review emphasizes the importance of integrating comprehensive clinical assessments with advanced genetic investigations to enhance accurate diagnosis, develop personalized management plans, and guide future therapeutic strategies for ASD. Keywords: Autism spectrum disorder; Genomic variations; Structural variations, Single gene variants, Diagnosis, Treatment.