Audiological Findings in Children with PLA2G6-Associated Neurodegeneration

Valiyaparambath Purushothaman Vandana; Jeevendra Kumar Darshini; Bindu Parayil Sankaran

doi:10.1055/a-1877-2546

Journal of the American Academy of Audiology, Table of Contents

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

¹Department of Speech Pathology and Audiology, National Institute of Mental Health and Neurosciences (NIMHANS), Bengaluru, Karnataka, India

,

Jeevendra Kumar Darshini

¹Department of Speech Pathology and Audiology, National Institute of Mental Health and Neurosciences (NIMHANS), Bengaluru, Karnataka, India

,

Bindu Parayil Sankaran

²Department of Biochemical Genetics and Genetic Metabolic Disorders Service, The Children's Hospital at Westmead, Westmead, NSW, Australia

³The Children's Hospital at Westmead Clinical School, Faculty of Medicineand Health, University of Sydney, Sydney, NSW, Australia

› Author Affiliations

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

Full Text

References

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