Audiological Findings in Children with PLA2G6-Associated Neurodegeneration.

Background:  Audiological manifestations of patients with PLA2G6-associated neurodegeneration are limited.

Objective:  To analyze the audiological findings in a cohort of 13 children with infantile neuroaxonal dystrophy (INAD).

Method:  Patients underwent a battery of audiological tests including tympanometry, distortion product otoacoustic emissions, impedance audiometry, and Brainstem Auditory Evoked Potentials (BAEPs).

Results:  Audiological studies of 13 children indicated sensorineural hearing loss in six children and auditory neuropathy spectrum disorder in four children.

Conclusion:  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.