Long Term Speech Perception Outcomes of Cochlear Implantation in Gap Junction Protein Beta 2 Related Hearing Loss
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Background and Objectives: The mutation of the gap junction protein beta 2 (GJB2) geneis the predominant cause of autosomal recessive non-syndromic hearing loss. The purposeof this study was to evaluate the speech perception outcome after cochlear implantation accordingto the presence of a GJB2 mutation. Subjects and Methods: During the period fromMarch 2004 to February 2005, 38 patients underwent cochlear implantation at Asan MedicalCenter. Genetic factors and speech perception were evaluated in all subjects, and the patientswere grouped according to the presence of a GJB2 mutation. The two groups werecarefully matched according to the age at cochlear implantation. We analyzed four mutationsin the GJB2 gene: 35delG, 167delT, 235delC, and E114G. Speech perception outcomeswere measured using the open set, 1 and 2 syllables, the comprehension test, the MeaningfulAuditory Integration Scale, the categories of auditory performance, and the Speech IntelligibilityRating scores. The evaluations were performed before the operation, 6 and 12 monthsthereafter, and then annually up to nine years after cochlear implantation. Results: Fifteenpatients had bi-allelic GJB2 mutations (11 with E114G and 4 with 235delC), whereas the remaining23 had wild type alleles. For the age-matched analysis, 14 patients were selectedand divided into two groups of 7 subjects each: GJB2 mutation and no mutation (i.e., deafnessof unknown origin). Overall, all patients showed improvement of speech perceptionoutcome after cochlear implantation. There was no difference in the improvement betweenpatients with and without GJB2 mutations at the 5-year and 9-year follow up. The pattern ofimprovement throughout the duration of the follow-up also showed no difference betweenthe two groups. Conclusions: Similar outcomes of speech perception are expected aftercochlear implantation in pediatric patients with or without GJB2 mutation.
Abstract
Background and Objectives: The mutation of the gap junction protein beta 2 (GJB2) geneis the predominant cause of autosomal recessive non-syndromic hearing loss. The purposeof this study was to evaluate the speech perception outcome after cochlear implantation accordingto the presence of a GJB2 mutation. Subjects and Methods: During the period fromMarch 2004 to February 2005, 38 patients underwent cochlear implantation at Asan MedicalCenter. Genetic factors and speech perception were evaluated in all subjects, and the patientswere grouped according to the presence of a GJB2 mutation. The two groups werecarefully matched according to the age at cochlear implantation. We analyzed four mutationsin the GJB2 gene: 35delG, 167delT, 235delC, and E114G. Speech perception outcomeswere measured using the open set, 1 and 2 syllables, the comprehension test, the MeaningfulAuditory Integration Scale, the categories of auditory performance, and the Speech IntelligibilityRating scores. The evaluations were performed before the operation, 6 and 12 monthsthereafter, and then annually up to nine years after cochlear implantation. Results: Fifteenpatients had bi-allelic GJB2 mutations (11 with E114G and 4 with 235delC), whereas the remaining23 had wild type alleles. For the age-matched analysis, 14 patients were selectedand divided into two groups of 7 subjects each: GJB2 mutation and no mutation (i.e., deafnessof unknown origin). Overall, all patients showed improvement of speech perceptionoutcome after cochlear implantation. There was no difference in the improvement betweenpatients with and without GJB2 mutations at the 5-year and 9-year follow up. The pattern ofimprovement throughout the duration of the follow-up also showed no difference betweenthe two groups. Conclusions: Similar outcomes of speech perception are expected aftercochlear implantation in pediatric patients with or without GJB2 mutation.
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