Abdurehim Yasin, Lehmann Alexandre, Zeitouni Anthony G
1 Department of Otolaryngology-Head and Neck Surgery, McGill University, Montreal, Canada.
2 Department of Otolaryngology, First Teaching Hospital of Xinjiang Medical University, Urumqi, China.
Otolaryngol Head Neck Surg. 2017 Jul;157(1):16-24. doi: 10.1177/0194599817697054. Epub 2017 Mar 21.
Objective To systematically review and quantify current evidence regarding the association of GJB2 mutation status with outcomes of pediatric cochlear implantation. Data Sources PubMed, Embase, and the Cochrane Library were searched for "GJB2,""pediatric hearing loss," and "cochlear implantation" and their synonyms, with no language restrictions, until December 2, 2015. Review Methods Studies were included that investigated the status of GJB2 mutation and its predictive value for outcomes of pediatric cochlear implantation. Speech recognition scores, Infant-Toddler Meaningful Auditory Integration Scale, Speech Intelligibility Rating, and Categorized Auditory Performance were pooled using weighted mean differences, and a 95% confidence interval. Results Eighteen studies met the inclusion criteria. The differences between GJB2-related deafness and non- GJB2-related deafness due to unidentified causes and other types of genetic deafness without additional disabilities were not statistically significant ( P = .15 and P = .30, respectively); however, the difference between GJB2-related deafness and acquired hearing loss due to environmental etiologies was statistically significant and favored GJB2-related deafness ( P = .03). Conclusion GJB2-related deafness leads to significantly better cochlear implantation outcomes when compared with acquired deafness caused by environmental etiologies. However, GJB2 mutation is not associated with a significantly better prognosis when compared with those whose deafness results from either nonsyndromic hearing loss of unknown origin or other types of genetic mutations in the absence of other neurologic deficits.
目的 系统评价和量化目前关于GJB2突变状态与儿童人工耳蜗植入结局之间关联的证据。数据来源 检索PubMed、Embase和Cochrane图书馆，搜索“GJB2”“儿童听力损失”和“人工耳蜗植入”及其同义词，无语言限制，检索截至2015年12月2日。综述方法 纳入研究GJB2突变状态及其对儿童人工耳蜗植入结局预测价值的研究。使用加权均数差值及95%置信区间汇总语音识别分数、婴幼儿有意义听觉整合量表、语音可懂度评分和分类听觉表现。结果 18项研究符合纳入标准。GJB2相关耳聋与不明原因的非GJB2相关耳聋及无其他残疾的其他类型遗传性耳聋之间的差异无统计学意义（分别为P = 0.15和P = 0.30）；然而，GJB2相关耳聋与环境病因导致的获得性听力损失之间的差异有统计学意义，且有利于GJB2相关耳聋（P = 0.03）。结论 与环境病因导致的获得性耳聋相比，GJB2相关耳聋导致人工耳蜗植入结局明显更好。然而，与耳聋由不明原因的非综合征性听力损失或无其他神经功能缺损的其他类型基因突变引起的患者相比，GJB2突变与明显更好的预后无关。
