Abstract

Audiological manifestations of patients with PLA2G6-associated neurodegeneration are limited. To analyze the audiological findings in a cohort of 13 children with infantile neuroaxonal dystrophy (INAD). Patients underwent a battery of audiological tests including tympanometry, distortion product otoacoustic emissions, impedance audiometry, and Brainstem Auditory Evoked Potentials (BAEPs). Audiological studies of 13 children indicated sensorineural hearing loss in six children and auditory neuropathy spectrum disorder in four children. This study may extend the auditory findings for INAD. Additional studies on quality of life and cognitive-brain degeneration related to this disease are required before making appropriate recommendations for aural rehabilitation.

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