title: Connexin-associated deafness and speech perception outcome of cochlear implantation.
abstract: 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.
  
  
  METHODS
  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.
  
  
  METHODS
  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.
  
  
  METHODS
  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.
  
  
  METHODS
  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.
authors.affiliation: Department of Communication Disorders, Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.
authors.forename: Riki
authors.initials: R
authors.lastname: Taitelbaum-Swead
authors.forename: Zippora
authors.initials: Z
authors.lastname: Brownstein
authors.forename: Chava
authors.initials: C
authors.lastname: Muchnik
authors.forename: Liat
authors.initials: L
authors.lastname: Kishon-Rabin
authors.forename: Jona
authors.initials: J
authors.lastname: Kronenberg
authors.forename: Lela
authors.initials: L
authors.lastname: Megirov
authors.forename: Moshe
authors.initials: M
authors.lastname: Frydman
authors.forename: Minka
authors.initials: M
authors.lastname: Hildesheimer
authors.forename: Karen B
authors.initials: KB
authors.lastname: Avraham
mesh_terms: D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D003054:Cochlear Implants; D000072259:Connexin 26; D000075302:Connexin 30; D017630:Connexins / Q000235:genetics*; D004252:DNA Mutational Analysis; D003638:Deafness / Q000235:genetics* / Q000534:rehabilitation; D005260:Female; D006580:Genetic Carrier Screening; D006720:Homozygote; D006801:Humans; D007223:Infant; D008297:Male; D017063:Outcome Assessment, Health Care; D016133:Polymerase Chain Reaction; D012189:Retrospective Studies; D013067:Speech Perception; D013069:Speech Reception Threshold Test
chemical_list: D000075302:Connexin 30; D017630:Connexins; C000607042:GJB2 protein, human; C491020:GJB6 protein, human; D000072259:Connexin 26