Literature DB >> 15547423

Connexin 26 (GJB2) gene-related deafness and speech intelligibility after cochlear implantation.

Arasa Raj Sinnathuray1, Joseph G Toner, Joanne Clarke-Lyttle, Andrea Geddis, Christopher C Patterson, Anne E Hughes.   

Abstract

HYPOTHESIS: Speech intelligibility in children after cochlear implantation may depend on their deafness cause, including connexin 26 (GJB2) gene-related deafness.
BACKGROUND: There is significant variability in the degree of intelligibility, or clarity, of children's speech after cochlear implantation. GJB2 gene-related deafness may be a factor, as preliminary data suggest that pathologic changes do not affect the spiral ganglion cells, which are the neural elements stimulated by the implant, thus favoring better results.
METHODS: In an observational retrospective cohort study of pediatric cochlear implantees, 38 patients with nonsyndromic deafness of unknown cause and 1 with keratitisichthyosis-deafness syndrome underwent GJB2 mutation analysis using polymerase chain reaction amplification and direct sequencing. The primary outcome measure assessed was Speech Intelligibility Rating score from postoperative Year 1 (n = 39) to Year 5 (n = 17). Educational setting was considered as a secondary outcome measure. Statistical analysis was double-blinded, with patients and assessors of outcome unaware of GJB2 status.
RESULTS: Fourteen patients had GJB2-related deafness and 25 had GJB2-unrelated deafness. Comparisons at Year 3 (n = 31) revealed intelligible speech achieved by 9 of 11 with GJB2-related deafness, compared with only 6 of 20 with GJB2-unrelated deafness (p = 0.017). Ordinal logistic regression analysis on Speech Intelligibility Rating scores found statistically significantly better scores in children with GJB2-related deafness (p < 0.05) both before and after adjustment for confounding variables. A larger proportion with GJB2-related deafness also attended mainstream school (p = 0.01).
CONCLUSION: In pediatric cochlear implantees, GJB2-related deafness is a predictor of good speech intelligibility.

Entities:  

Mesh:

Substances:

Year:  2004        PMID: 15547423     DOI: 10.1097/00129492-200411000-00013

Source DB:  PubMed          Journal:  Otol Neurotol        ISSN: 1531-7129            Impact factor:   2.311


  10 in total

1.  Prediction of cochlear implant performance by genetic mutation: the spiral ganglion hypothesis.

Authors:  Robert W Eppsteiner; A Eliot Shearer; Michael S Hildebrand; Adam P Deluca; Haihong Ji; Camille C Dunn; Elizabeth A Black-Ziegelbein; Thomas L Casavant; Terry A Braun; Todd E Scheetz; Steven E Scherer; Marlan R Hansen; Bruce J Gantz; Richard J H Smith
Journal:  Hear Res       Date:  2012-08-28       Impact factor: 3.208

2.  The effect of GJB2 and SLC26A4 gene mutations on rehabilitative outcomes in pediatric cochlear implant patients.

Authors:  Yu-jun Yan; Yun Li; Tao Yang; Qi Huang; Hao Wu
Journal:  Eur Arch Otorhinolaryngol       Date:  2013-01-08       Impact factor: 2.503

3.  Identification of four novel connexin 26 mutations in non-syndromic deaf patients: genotype-phenotype analysis in moderate cases.

Authors:  Viviana Dalamón; M Florencia Wernert; Vanesa Lotersztein; Patricio O Craig; Raúl Reynoso Diamante; María E Barteik; Carlos Curet; Bibiana Paoli; Enrique Mansilla; Ana Belén Elgoyhen
Journal:  Mol Biol Rep       Date:  2013-10-25       Impact factor: 2.316

Review 4.  Cochlear implantation in common forms of genetic deafness.

Authors:  Richard J Vivero; Kenneth Fan; Simon Angeli; Thomas J Balkany; Xue Z Liu
Journal:  Int J Pediatr Otorhinolaryngol       Date:  2010-07-22       Impact factor: 1.675

5.  Speech Perception Outcomes after Cochlear Implantation in Children with GJB2/DFNB1 associated Deafness.

Authors:  Marina Davcheva-Chakar; Emilija Sukarova-Stefanovska; Valentina Ivanovska; Vesna Lazarevska; Ilija Filipche; Beti Zafirovska
Journal:  Balkan Med J       Date:  2014-03-01       Impact factor: 2.021

6.  Residual Hearing in DFNB1 Deafness and Its Clinical Implication in a Korean Population.

Authors:  So Young Kim; Ah Reum Kim; Kyu Hee Han; Min Young Kim; Eun-Hee Jeon; Ja-Won Koo; Seung Ha Oh; Byung Yoon Choi
Journal:  PLoS One       Date:  2015-06-10       Impact factor: 3.240

7.  A Comprehensive Study on the Etiology of Patients Receiving Cochlear Implantation With Special Emphasis on Genetic Epidemiology.

Authors:  Maiko Miyagawa; Shin-Ya Nishio; Shin-ichi Usami
Journal:  Otol Neurotol       Date:  2016-02       Impact factor: 2.311

8.  Predictors of Early Language Outcomes in Children with Connexin 26 Hearing Loss across Three Countries.

Authors:  Daniel Holzinger; Magdalena Dall; Sandra Kiblböck; Evelien Dirks; Peter Carew; Libby Smith; Lilian Downie; Daisy A Shepherd; Valerie Sung
Journal:  Children (Basel)       Date:  2022-07-01

9.  A semi-supervised Support Vector Machine model for predicting the language outcomes following cochlear implantation based on pre-implant brain fMRI imaging.

Authors:  Lirong Tan; Scott K Holland; Aniruddha K Deshpande; Ye Chen; Daniel I Choo; Long J Lu
Journal:  Brain Behav       Date:  2015-10-12       Impact factor: 2.708

10.  Molecular investigation in children candidates and submitted to cochlear implantation.

Authors:  Raquel Bernardes; Silvana Bortoncello; Thalita Vitachi Christiani; Edi Lúcia Sartorato; Rodrigo César e Silva; Paulo R Cantanhede Porto
Journal:  Braz J Otorhinolaryngol       Date:  2006 May-Jun
  10 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.