Modifiers of Severity in Autism Spectrum Disorder

Abstract

Autism Spectrum Disorder (ASD) comprises a complex of neurodevelopmental disorders primarily characterized by deficits in verbal communication, impaired social interaction and repetitive behaviors. The complex genetic architecture of ASD encompasses profound clinical heterogeneity, which poses huge challenges in understanding its pathophysiology. We conducted a large scale association analysis of the MSSNG whole genome sequencing data to elucidate potential modifiers of ASD severity. Using linear regression, we have directly tested the association between 6,198,166 SNPs and Vineland Adaptive Behavior Scale Scores a standardized metric for measuring severity across multiple ASD spectra.