Diagnostic Yield of Exome Sequencing for Isolated, Non-Syndromic Autism Spectrum

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Authors

Anna Lively, Corewell Health West Resident
Linda Rossetti, Corewell Health West
Elizabeth VanSickle, Corewell Health West
Georgina Brown-Steplitus, Michigan State University College of Human Medicine Medical Student
Tanya Pai, Michigan State University College of Human Medicine Medical Student
Ariel Breeden, Corewell Health West
Sydney Sabanski, Corewell Health West

Description

Autism spectrum disorder (ASD) is a neurodevelopmental disorder (NDD) affecting around 1 in 36 children in the U.S. in 2023, characterized by deficits in communication and social interactions. While molecular testing is useful for diagnosing NDDs, the broad scope and frequent co-occurrence of multiple NDDs complicate the diagnostic process. Current genetic testing provides an underlying diagnosis in 35% of children with ASD but does not distinguish between "syndromic" and "non-syndromic" ASD. This study aims to assess the diagnostic yield of exome sequencing (ES) in non-syndromic ASD and compare results to chromosomal microarray (CMA).

Publication Date

5-9-2025

Disciplines

Pediatrics

Recommended Citation

Lively A, Rossetti L, VanSickle E, Brown-Steplitus G, Pai T, Breeden A, Sabanski S. Diagnostic yield of exome sequencing for isolated, non-syndromic autism spectrum. Presented at: Research Day Corewell Health West; 2025 May 9; Grand Rapids, MI.

Comments

2025 Research Day Corewell Health West, Grand Rapids, MI, May 9, 2025. Abstract 1825