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J Am Acad Audiol 2022; 33(06): 324-329
DOI: 10.1055/a-1877-2546
Research Article

Audiological Findings in Children with PLA2G6-Associated Neurodegeneration

Valiyaparambath Purushothaman Vandana
1   Department of Speech Pathology and Audiology, National Institute of Mental Health and Neurosciences (NIMHANS), Bengaluru, Karnataka, India
,
Jeevendra Kumar Darshini
1   Department of Speech Pathology and Audiology, National Institute of Mental Health and Neurosciences (NIMHANS), Bengaluru, Karnataka, India
,
Bindu Parayil Sankaran
2   Department of Biochemical Genetics and Genetic Metabolic Disorders Service, The Children's Hospital at Westmead, Westmead, NSW, Australia
3   The Children's Hospital at Westmead Clinical School, Faculty of Medicineand Health, University of Sydney, Sydney, NSW, Australia
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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

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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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