Abstract
Auditory neuropathy spectrum disorder (ANSD) is a hearing disorder caused by desynchronized neural discharges of the auditory nerve. It is a retrocochlear hearing disorder identified by abnormal or complete absence of auditory brainstem responses (ABR) and presence of evoked acoustic otoemissions (OAE). Some reports have shown that cochlear implantation may be successful for rehabilitation of children with ANSD. One report has shown that mutations of the OTOF gene, which encodes otoferlin, cause non-syndromic ANSD. Herein, we report on three children with ANSD who underwent cochlear implantation at the National Center for Child Health and Development (Japan). We report the patient characteristics, preoperative audiological profiles, and postoperative performances of the children with cochlear implants. They were diagnosed as having ANSD based on the detection of normal DPOAE, but absent ABR. Mutation of the OTOF gene was also detected. They had no or very poor open-set speech recognition, both with and without appropriate hearing aids, and benefited from cochlear implantation. Cochlear implantation is expected to be a useful modality for language development in ANSD children with mutation of the OTOF gene.
