When hearing loss mimics autism: Enlarged vestibular aqueduct syndrome in an 11-year-old child—A case report

The relationship between auditory input and cognitive development is fundamental, as early sensory deprivation can impair social communication and mimic neurodevelopmental disorders. Comprehensive audiological assessment is critical for children suspected of autism spectrum disorder to prevent "diagnostic overshadowing," where behavioral symptoms of hearing loss-such as social withdrawal and speech delay-are mislabeled as neurodevelopmental deficits. Although autism spectrum disorder involves social communication deficits under DSM-5 criteria, congenital progressive sensorineural hearing loss often presents with similar clinical features. Enlarged vestibular aqueduct syndrome is the most common congenital inner ear anomaly associated with progressive hearing loss and must be considered in differential diagnoses. This report describes a patient in his early teens, misdiagnosed with autism spectrum disorder for 8 years, whose diagnosis was corrected to enlarged vestibular aqueduct syndrome based on high-resolution imaging. Early identification is vital for timely interventions such as cochlear implantation.