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DOI: 10.1055/a-1877-2546
Audiological Findings in Children with PLA2G6-Associated Neurodegeneration

Abstract
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.
Keywords
infantile neuroaxonal dystrophy - PLA2G6 - sensorineural hearing loss - auditory neuropathy spectrum disorderDisclaimer
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.
Publication History
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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