Yield of Genetic Testing in Children with Autism Spectrum Disorder - A Single-Center Experience

Identifying genetic etiologies is an important consideration in the comprehensive management of autism spectrum disorder (ASD). In this study, we aimed to evaluate and compare the diagnostic yield of genetic tests in ASD. This retrospective descriptive study evaluated and compared the diagnostic yield of genetic tests in patients with ASD in a teaching hospital from Central India between 2018 and 2023. Fifty-four patients were tested. Pathogenic/likely pathogenic variants were identified in 13 (24.07%) patients. Yield of whole exome sequencing (WES), 12/27 (44.49%), was more than that of chromosomal microarray (CMA) 1/30 (3.3%) ( P < 0.05). Fragile-X gene mutation was detected in 0/14 patients tested. Patients with motor delay and hand stereotypes were more likely to have pathogenic variants on WES. The most common pathogenic gene identified was the MECP2 gene (5/12, 41.66%). Genetic abnormalities were identified in 24.07% of children with ASD. WES had higher diagnostic yield than CMA.