Roadmap for audiological evaluation in Gaucher disease: a pilot study

Abstract Background The study aimed to design a roadmap for an audiological test battery to be part of the standard assessment and monitoring of Gaucher disease (GD) patients. Methods A cross-sectional study involved 21 GD patients, including 14 with none-neuronopathic GD and 7 with neuronopathic GD. The study used a comprehensive audiological test battery to assess the auditory pathway from the external ear to the brainstem, including detailed history, otological exam, pure-tone audiometry, tympanometry, transient evoked otoacoustic emissions (TEOAEs) with and without contralateral suppression, and auditory brainstem responses (ABR) evoked to both click and speech stimuli. Results Symptoms suggestive of central auditory dysfunction were reported in 66.67% of the study group. Audiological test findings showed abnormal scores mainly in central auditory pathways, including abnormal scores in complex ABR in 73.3%, abnormal medial olivocochlear suppression in 72.7%, abnormal latency rate function in ABR of 26.7% and abnormally prolonged ABR III-V interpeak latencies in 25%. On the other hand, pure tone audiometry revealed high-frequency sensorineural hearing loss in one patient with none-neuronopathic GD and 5 patients with mild to moderate conductive hearing loss related to abnormal tympanogram results (30% total). Failed TEOAEs were revealed in 2 patients only (16.7%). Conclusion Assessment of central auditory pathways should be incorporated into the audiological test battery for GD patients. This can serve as an indicator of subclinical neurological abnormalities and may be a useful addition to standard neurological monitoring in these patients.