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

Daneshi, A. and Hassanzadeh, S. and Emamdjomeh, H. and Mohammadi, S.H. and Arzhangi, S. and Farhadi, M. and Najmabadi, H. (2011) Prevalence of GJB2-associated deafness and outcomes of cochlear implantation in Iran. Journal of Laryngology and Otology, 125 (5). pp. 455-459.

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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. Copyright © JLO (1984) Limited 2011.

Item Type: Article
Additional Information: cited By 12
Uncontrolled Keywords: connexin 26; genomic DNA, adolescent; adult; article; auditory performance scale; auditory rehabilitation; child; childhood disease; clinical assessment tool; congenital deafness; controlled study; denaturing high performance liquid chromatography; gene; gene deletion; gene frequency; gene sequence; genotype; GJB2 gene; hearing; human; implantation; Iran; major clinical study; named inventories, questionnaires and rating scales; outcome assessment; polymerase chain reaction; preschool child; prevalence; school child; scoring system; speech; speech intelligibility rating scale, Adolescent; Adult; Case-Control Studies; Child; Child, Preschool; Chromatography, Liquid; Cochlear Implantation; Connexins; Deafness; Gene Frequency; Genotype; Humans; Infant; Infant, Newborn; Iran; Mutation; Polymerase Chain Reaction; Prevalence; Speech Discrimination Tests; Speech Intelligibility; Speech Perception; Speech Production Measurement; Treatment Outcome; Young Adult
Subjects: WW Ophthalmology
Depositing User: somayeh pourmorteza
Date Deposited: 05 Jan 2019 11:32
Last Modified: 05 Jan 2019 11:32
URI: http://eprints.iums.ac.ir/id/eprint/7421

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