Connexin-associated deafness and speech perception outcome of cochlear implantation

OBJECTIVE: To compare performance after cochlear implantation in children with mutations in connexin (Cx) 26 (GJB2) or Cx30 (GJB6) and children with deafness of unknown etiology. DESIGN: Genetic analysis and speech perception evaluation was performed in the children with and without Cx mutations who had undergone cochlear implantation. Speech perception performance was retrospectively analyzed 6, 12, 24, 36, and 48 months after implantation. Test material was selected according to the child's age and cognitive and language abilities. SETTING: The study took place at speech and hearing and genetic centers of a hospital in the central part of Israel and the genetics departments of 3 additional centrally located hospitals. PATIENTS: A total of 30 children who had undergone cochlear implantation were selected for the study, with control patients matched according to age at implantation, duration of implant use, and mode of communication. There was no evidence for additional disabilities or handicaps in either group. MAIN OUTCOME MEASURES: Speech perception measurements included a questionnaire, as well as closed and open-set tests. RESULTS: Overall, the 2 groups showed significant improvement in speech perception results after implantation. Four years after implantation, both groups achieved mean open-set speech perception scores of approximately 60%, 75%, and 90% for monosyllabic, 2 syllables, and words in sentences tests, respectively. CONCLUSIONS: There were no apparent differences in speech perception performance after implantation between the children with Cx mutations and children with deafness of unknown etiology. These data have important implications as a prognostic indicator when counseling candidates for cochlear implantation.