Autism Spectrum Disorder: A Review of Genomic Risk Factors, Diagnostic and Pharmacotherapeutic Strategies
Zohor Azher1*
1Department of Medical Genetics, Faculty of Medicine, Umm Al-Qura University; [email protected]
*Correspondence: [email protected]
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.
Received: 20 May 2025, Accepted17 July 2025, Published: 25 July 2025
How to cite
Azher, Z. Autism Spectrum Disorder: A Review of Genomic Risk Factors, Diagnostic and Pharmaco-therapeutic Strategies. STJ, 2025, 2, 81-93
https://doi.org/10.70957/uqu.edu.sa/s.toxicology.s/stj.2025.2.8
Copyright: © 2025 by the authors.
Licensee Umm Al-Qura University, Makkah, Saudi Arabia