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Prevalence of GJB2-associated deafness and outcomes of cochlear implantation in Iran

Published online by Cambridge University Press:  31 January 2011

A Daneshi ,
S Hassanzadeh ,
H Emamdjomeh ,
S H Mohammadi ,
S Arzhangi ,
M Farhadi  and
H Najmabadi
A Daneshi*
Affiliation:
Head and Neck Surgery Department and Research Center, Iran University of Medical Sciences, Tehran, Iran
S Hassanzadeh
Affiliation:
Psychology and Education of Exceptional Children Department, Psychology and Education Faculty, University of Tehran, Tehran, Iran
H Emamdjomeh
Affiliation:
Head and Neck Surgery Department and Research Center, Iran University of Medical Sciences, Tehran, Iran
S H Mohammadi
Affiliation:
Head and Neck Surgery Department and Research Center, Iran University of Medical Sciences, Tehran, Iran
S Arzhangi
Affiliation:
Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran
M Farhadi
Affiliation:
Head and Neck Surgery Department and Research Center, Iran University of Medical Sciences, Tehran, Iran
H Najmabadi
Affiliation:
Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran
*
Address for correspondence: Dr Ahmad Daneshi, Head and Neck Surgery Department and Research Center, Iran University of Medical Sciences, Sattarkhan Avenue, Niayesh Street, Tehran, Iran E-mail: daneshi@daneshi.net
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Abstract

Objectives:

To investigate the prevalence of mutations in the coding exon of the GJB2 gene in Iranian children with cochlear implants, and to compare the outcomes of auditory perception and speech production in cochlear-implanted children with and without GJB2 mutation.

Materials and methods:

One hundred and sixty-six prelingually deaf children who had undergone cochlear implantation at the Iranian Cochlear Implant Center, Tehran, were selected from a pool of 428 implanted children. The prevalence of GJB2 gene mutations was assessed using nested polymerase chain reaction and direct sequencing. To enable comparisons, we also identified 36 implanted children with non-GJB2 deafness. Patients' speech perception and speech production were assessed using the Categorization of Auditory Performance and Speech Intelligibility Rating scales.

Results:

Thirty-three of 166 probands (19.9 per cent) were found to have GJB2 deafness-causing allele variants and were diagnosed with DFNB1 deafness. Results also indicated a significant improvement in speech perception and production scores in both GJB2 and non-GJB2 patients over time.

Conclusion:

Children with GJB2-related deafness benefit from cochlear implantation to the same extent as those with non-GJB2-related deafness.

Keywords

Cochlear ImplantationConnexin 26GJB2 geneAuditory PerceptionSpeech Discrimination
Type
Main Articles
Information
The Journal of Laryngology & Otology , Volume 125 , Issue 5 , May 2011 , pp. 455 - 459
Copyright
Copyright © JLO (1984) Limited 2011

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