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.