Shared Genomic Risk in Autism Spectrum Disorder and Schizophrenia: Exploring Overlapping Pathways and Divergent Phenotypes

Authors

• Maryan Aideed, University of LynchburgFollow

Specialty

Psychiatry

Advisor

Dr. Munsell

Abstract

ABSTRACT

This integrative review examines both the overlapping features and comorbidity between autism spectrum disorder (ASD) and schizophrenia, focusing on shared genetic, neurodevelopmental, and environmental contributors. While traditionally considered distinct, emerging research highlights meaningful areas of convergence. The review synthesizes findings from large-scale Genome-Wide Association (GWAS) and longitudinal developmental studies to explore how common polygenic variation and rare disruptive mutations may shape divergent phenotypic outcomes. Beyond genetics, factors such as environmental exposures including prenatal inflammation, perinatal complications, and early stress interact with genetic vulnerability to influence brain development and risk trajectories. Particular attention is given to youth and adolescents at high familial or genetic risk, as early developmental periods may represent critical windows for intervention.

This review aims to inform clinical practice by advancing dimensional, rather than categorical models of psychiatric diagnosis. Identifying shared etiological mechanisms may improve early detection and guide personalized treatment strategies, especially for individuals with overlapping symptom presentations. Despite promising insights, challenges remain; Phenotypic heterogeneity, limited understanding of gene–environment interactions, and variable diagnostic criteria complicate interpretation and generalization of findings. Addressing these gaps will be essential for translating research into precision psychiatry approaches that better serve individuals affected by complex neurodevelopmental and psychiatric disorders.

Recommended Citation

Aideed M. Shared Genomic Risk in Autism Spectrum Disorder and Schizophrenia: Exploring Overlapping Pathways and Divergent Phenotypes. University of Lynchburg DMSc Doctoral Project Assignment Repository. 2026; 8(1).