Long Term Speech Perception Outcomes of Cochlear Implantation in Gap Junction Protein Beta 2 Related Hearing Loss

BACKGROUND AND OBJECTIVES: The mutation of the gap junction protein beta 2 (GJB2) gene is the predominant cause of autosomal recessive non-syndromic hearing loss. The purpose of this study was to evaluate the speech perception outcome after cochlear implantation according to the presence of a GJB2 mutation. SUBJECTS AND METHODS: During the period from March 2004 to February 2005, 38 patients underwent cochlear implantation at Asan Medical Center. Genetic factors and speech perception were evaluated in all subjects, and the patients were grouped according to the presence of a GJB2 mutation. The two groups were carefully matched according to the age at cochlear implantation. We analyzed four mutations in the GJB2 gene: 35delG, 167delT, 235delC, and E114G. Speech perception outcomes were measured using the open set, 1 and 2 syllables, the comprehension test, the Meaningful Auditory Integration Scale, the categories of auditory performance, and the Speech Intelligibility Rating scores. The evaluations were performed before the operation, 6 and 12 months thereafter, and then annually up to nine years after cochlear implantation. RESULTS: Fifteen patients had bi-allelic GJB2 mutations (11 with E114G and 4 with 235delC), whereas the remaining 23 had wild type alleles. For the age-matched analysis, 14 patients were selected and divided into two groups of 7 subjects each: GJB2 mutation and no mutation (i.e., deafness of unknown origin). Overall, all patients showed improvement of speech perception outcome after cochlear implantation. There was no difference in the improvement between patients with and without GJB2 mutations at the 5-year and 9-year follow up. The pattern of improvement throughout the duration of the follow-up also showed no difference between the two groups. CONCLUSIONS: Similar outcomes of speech perception are expected after cochlear implantation in pediatric patients with or without GJB2 mutation.