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 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.

Keywords

infantile neuroaxonal dystrophy - PLA2G6 - sensorineural hearing loss - auditory neuropathy spectrum disorder

Disclaimer

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

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