GJB2相关聋儿人工耳蜗植入后听觉康复效果评估

Effect of cochlear implantation on children with GJB2 mutations

目的探讨GJB2基因突变致聋患儿人工耳蜗植入效果。方法对46例资料完整的2岁以下的人工耳蜗植入患者进行GJB2基因检查,根据结果将患儿分成GJB2相关聋儿组（18例）和非GJB2相关聋儿组（28例）。术后1年,使用婴幼儿有意义听觉整合量表（the infant-toddle meaningful auditory integration scale,ITMAIS）进行听觉康复效果问卷评估。结果 46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,18例GJB2相关聋儿组的IT-MAIS评分为20~39分,平均（33.2±4.4）分;28例非GJB2相关聋儿组的ITMAIS评分为20~38分,平均（31.3±5.5）分;两者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基因突变致聋患儿与非GJB2基因突变致聋患儿人工耳蜗植入术后效果基本一致,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 report treatment outcome of cochlear implantation in patients with mutations in GJB2.Methods The case series included 46 children under two years old who received unilateral cochlear implants. Eighteen of these children had GJB2-related deafness,and twenty-eight had no GJB2-related deafness. The audiological results were assessed by using Infant-Toddle Meaningful Auditory Integration Scale（ IT-MAIS） at one year after surgery. Results All patients received successful electrode insertion,and got subjective auditory response with no serious complications after surgery. One year after implantation,the IT-MAIS scores in patients with GJB2 mutations were 20 to 39（ averaged： 33. 2± 4. 4）,and the scores in patients without GJB2 mutations were 20 to 38（ averaged： 31. 3 ± 5. 5）. The difference was statistically insignificant（ P〉0. 05）. Conclusions The occurrence of GJB2 mutation is high among patients with cochlear implants. The postoperative rehabilitation outcome is similar in children with and without GJB2-related hearing loss,which indicates that cochlear implantation is an effective therapy for hearing-impaired children with GJB2 mutation.