Assessment of SHANK3 Gene In Children With Autism Spectrum Disorders

Abstract

Autism spectrum disorder is a clinically and etiologically heterogeneous condition with a strong genetic component. Impairment in sensory processing have long been reported in individuals with ASD; however, findings across studies are extremely heterogeneous, frequently contradictory, and do not converge on a specific pattern of sensory features as a hallmark of ASD. Better understanding of the heterogeneity of autism could generate useful information that may aid in understanding and study of its etiology, diagnosis, treatment and prognosis. Several candidate genes are emerging as promising genes for ASD and may pave way in elucidating its biological understanding. One example is SHANK3 on terminal chromosome 22q. SHANK3 mutations have been found in approximately 2% of ASD cases and its loss results in disruption of synaptic function. Studying the copy number variations (CNVs) of one such gene, SHANK3, and the associated phenotype in patients with ASD could provide insights that will guide future ASD treatments and interventions. This study was undertaken to assess SHANK3 CNVs in children with ASD and elucidate their sensory processing patterns using the Short Sensory Profile (SSP). To achieve this goal, a total number of forty Egyptian children diagnosed to have ASD, according to the Diagnostic and Statistical Manual of Mental Disorders—Fifth Edition, were included in the study. All participants were assessed using the Autism Diagnostic Interview-Revised (ADI-R). Severity of autism was assessed using Childhood Autism