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 revealed abnormal findings in 10 out of 13 children (77%). The findings indicated sensorineural hearing loss in six 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.

Any mention of a product, service, or procedure in the Journal of the American Academy of Audiology does not constitute an endorsement of the product, service, or procedure by the American Academy of Audiology.

Received: 18 February 2022

Accepted: 12 June 2022

Accepted Manuscript online:
15 June 2022

Article published online:
29 November 2022

© 2022. American Academy of Audiology. This article is published by Thieme.

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