Performance of speech perception after cochlear implantation in DFNB1 patients.
CONCLUSIONS
There were no apparent differences in speech performance after cochlear implantation between patients with biallelic GJB2 and/or GJB6 mutations and those with deafness of unknown aetiology. These data have important implications for the selection of prognostic indicators of the outcome of cochlear implantation.


OBJECTIVE
To compare performance after cochlear implantation in children with mutations in GJB2 (connexin 26) and/or GJB6 (connexin 30) and children with deafness of unknown aetiology.


METHODS
Genetic analysis and speech performance evaluation was determined in 24 patients with (n=11) and without (n=13) biallelic GJB2 and/or GJB6 mutations who underwent cochlear implantation. Speech perception skills were measured 12 and 24 months after surgery. Each patient was classified in accordance with the speech perception category (SPC).


RESULTS
Overall, the two groups showed similar significant improvement in speech perception after implantation.
Dalamón
Viviana
V
Instituto de Investigaciones en Ingenieria Genetica y Biologia Molecular, Consejo Nacional de Investigaciones Cientificas y Tecnicas, Universidad de Buenos Aires, Buenos Aires, Argentina. dalamon@dna.uba.ar
Lotersztein
Vanesa
V
Lipovsek
Marcela
M
Bèherán
Agustina
A
Mondino
Maria Elena
ME
Diamante
Fernando
F
Pallares
Norma
N
Diamante
Vicente
V
Elgoyhen
Ana Belen
AB
D001302:Audiometry, Speech; D016022:Case-Control Studies; D002675:Child, Preschool; D019929:Cochlear Implantation; D000072259:Connexin 26; D000075302:Connexin 30; D017630:Connexins / Q000235:genetics*; D004252:DNA Mutational Analysis; D003638:Deafness / Q000151:congenital* / Q000601:surgery; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D013067:Speech Perception
D000075302:Connexin 30; D017630:Connexins; C000607042:GJB2 protein, human; C491020:GJB6 protein, human; D000072259:Connexin 26