The evolution of hearing loss in the autosomal dominant disorder dfna9: from speech perception to electrically evoked potentials of the auditory nerve.

In this project, the main objective is to investigate the evolution of hearing levels and speech understanding in carriers of the P51S mutation in the COCH gene. This autosomal dominant disorder, known as DFNA9, is characterized by a progressive decline of hearing and vestibular function and will eventually lead to deafness and vestibular loss. No cure is currently available for DFNA9. The optimal therapeutic approach would be to prevent the onset of symptoms, e.g. by developing genetic therapies to target and block the mutation. Because longitudinal data on hearing function within this population are lacking, the applicant has already gathered prospective data to increase our understanding of its evolution. More specifically, the recently identified effect of sex on the natural evolution of hearing levels and speech understanding, and interaural differences will be studied using the complied dataset. These results will be essential for the design of future clinical trials studying disease-modifying therapies. Currently, DFNA9 patients can be rehabilitated with hearing aids and cochlear implants but this leads to a variable outcome with respect to speech understanding. For this reason, our third objective is to investigate the neural reserve in a cohort of cochlear implant users with DFNA9 by using electrically-evoked compound action potentials (ECAP's). By doing so, we will evaluate the responsiveness of the auditory nerve and measure the implications for speech perception.

Keywords:DFNA9, COCHLEAR IMPLANTS

Disciplines:Genetics, Audiology, Otology