GJB2相关聋儿人工耳蜗术后有意义听觉整合量表评估  

Effect assessment of cochlear implantation for deaf children with GJB2 mutations using meaningful auditory integration scale

作　　者：陈杰[1] 杨烨[1] 钱晓云[1] 戴艳红[1] 史陆森 马登滨[1] 林川耀[1] 李嘉怡[1] 高下[1] 

机构地区：[1]南京医科大学鼓楼临床医学院耳鼻咽喉头颈外科,江苏南京210008

出　　处：《中国耳鼻咽喉颅底外科杂志》2016年第5期349-352,共4页Chinese Journal of Otorhinolaryngology-skull Base Surgery

基　　金：南京市医学科技发展重点项目(ZKX13027);江苏省临床医学科技专项(BL2012036)

摘　　要：目的探讨GJB2基因突变致聋患儿人工耳蜗植入效果。方法对114例资料完整的2。6岁的人工耳蜗植入患者进行GJB2基因检查，根据年龄和GJB2测序结果分成2—4岁GJB2相关聋儿组和非GJB2相关聋儿组；4—6岁GJB2相关聋儿组和非GJB2相关聋儿组。术后1年，使用有意义听觉整合量表（MeaningfulAuditoryIntegrationscaLe，MMS）进行听觉康复效果问卷评估。结果114例聋儿人工耳蜗植入手术全部成功，均建立了主观听性反应。术后1年，28例2～4岁GJB2相关聋儿组的MAIS评分为25～37分，平均（34．0±2．7）分；50例2～4岁非GJB2相关聋儿组的MAIS评分为18～38分，平均（31．6±4．0）分；两组比较差异具有统计学意义（P〈0．05）。13例4～6岁GJB2相关聋儿组的MAIS评分为22～36分，平均（31．5±4．4）分；23例4～6岁非GJB2相关聋儿组的MAIS评分为25～37分，平均（31．7±3．1）分；两组比较差异无统计学意义（P〉0．05）。结论人工耳蜗患者中GJB2基因突变率高；GJB2基因突变致聋患儿的人工耳蜗植入效果稍好于非GJB2基因突变致聋患儿的人工耳蜗效果，或者他们的人工耳蜗植入效果基本一致；人工耳蜗植入可作为GJB2基因突变致聋患儿的有效治疗手段。Objective To investigate the effect of cochlear implantation for children with hearing loss induced by GJB2 gene mutations. Methods The ease series included 114 children aged 2 to 6 years old who received unilateral cochlear implantation in our hospital. According to the age and the results of the GJB2 gene test, the children were divided into four groups （28 eases aged 2 to 4 with GJB2 mutations, 50 cases aged 2 to 4 without GJB2 mutations, 13 cases aged 4 to 6 with GJB2 mutations, 23 eases aged 4 to 6 without GJB2 mutations）. The audiological results were assessed by using meaningful auditory integration scale （MAIS） at one year after surgery. Results All patients received complete electrode insertion, and no serious complications occurred after surgery. One year after operation, the MAIS scores in patients aged 2 to 4 with GJB2 mutations were 25 -37 （averaged： 34.0 ± 2.7）, and those without GJB2 mutations were 18 -38 （ averaged ： 31.6 ± 4.0）. There was significant difference between them （ P 〈 0.05 ）. However, the MAIS scores in patients aged 4 to 6 with GJB2 mutations were 22 - 36 （ averaged ： 31.5 ~ 4.4）, and those without GJB2 mutations were 25 - 37 （ averaged ： 31.7 ± 3.1 ）. The difference was statistically insignificant （P 〉 0.05 ）. Conclusions The mutation rate of GJB2 gene in patients with cochlear implantation is high. The outcomes of postoperative rehabilitation in patients with GJB2 mutations are slightly better than or equal to those in patients without mutations, which suggests that cochlear implantation may be an effective treatment for pediatric hearing loss with GJB2 mutations.

关 键 词：GJB2 听觉丧失 感音神经性 耳蜗植入 康复 听力障碍 

分 类 号：Q789[生物学—分子生物学] R764.43[医药卫生—耳鼻咽喉科]