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J Am Acad Audiol
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 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 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

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

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333 Seventh Avenue, 18th Floor, New York, NY 10001, USA

 

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