Better speech performance in cochlear implant patients with GJB2-related deafness.
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.
Fukushima
Kunihiro
K
Department of Otolaryngology, Okayama University Medical School, 2-5-1 Shikata Cho, Okayama 700-8558, Japan. kuni@cc.okayama-u.ac.jp
Sugata
Kennichi
K
Kasai
Norio
N
Fukuda
Shouichirou
S
Nagayasu
Rie
R
Toida
Naomi
N
Kimura
Nobuhiko
N
Takishita
Teruaki
T
Gunduz
Mehmet
M
Nishizaki
Kazunori
K
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
D017630:Connexins; C000607042:GJB2 protein, human; D000072259:Connexin 26