title: Better speech performance in cochlear implant patients with GJB2-related deafness.
abstract: OBJECTIVE
  We applied mutation screening in seven cochlear implant users to identify those persons with GJB2-related deafness to determine whether etiology of deafness was predictive of speech performance after implantation.
  
  
  METHODS
  Direct sequence of GJB2 was conducted over seven cochlear implant users with prelingual hearing impairment and their speech, language and cognitive performance was examined.
  
  
  RESULTS
  The three persons with GJB2-related deafness had a mean vocabulary of 1243 words compared to a mean vocabulary of 195 words in the four children with GJB2-unrelated deafness, although the number of patients examined here was limited. The developmental quotient (DQ) of cognitive ability also was higher in those children with GJB2-related deafness.
  
  
  CONCLUSIONS
  These preliminary results suggest that better speech performance after cochlear implantation may be observed in persons with GJB2-related deafness. In the future, detailed phenotypic studies and mutation screening for non-syndromic hearing loss may play an important role in the preoperative assessment of prelingually-deafened children.
authors.affiliation: Department of Otolaryngology, Okayama University Medical School, 2-5-1 Shikata Cho, Okayama 700-8558, Japan. kuni@cc.okayama-u.ac.jp
authors.forename: Kunihiro
authors.initials: K
authors.lastname: Fukushima
authors.forename: Kennichi
authors.initials: K
authors.lastname: Sugata
authors.forename: Norio
authors.initials: N
authors.lastname: Kasai
authors.forename: Shouichirou
authors.initials: S
authors.lastname: Fukuda
authors.forename: Rie
authors.initials: R
authors.lastname: Nagayasu
authors.forename: Naomi
authors.initials: N
authors.lastname: Toida
authors.forename: Nobuhiko
authors.initials: N
authors.lastname: Kimura
authors.forename: Teruaki
authors.initials: T
authors.lastname: Takishita
authors.forename: Mehmet
authors.initials: M
authors.lastname: Gunduz
authors.forename: Kazunori
authors.initials: K
authors.lastname: Nishizaki
mesh_terms: D001299:Audiometry; D002648:Child; D002657:Child Development; D002675:Child, Preschool; D019929:Cochlear Implantation; D003071:Cognition; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics*; D004252:DNA Mutational Analysis; D003638:Deafness / Q000235:genetics* / Q000628:therapy; D006801:Humans; D007223:Infant; D007804:Language Development; D008297:Male; D009154:Mutation / Q000235:genetics; D011237:Predictive Value of Tests; D013065:Speech Intelligibility; D014825:Vocabulary
chemical_list: D017630:Connexins; C000607042:GJB2 protein, human; D000072259:Connexin 26