GJB2及SLC26A4基因突变患儿耳蜗植入效果分析

摘要

目的 探讨GJB2及SLC26A4基因突变的患儿人工耳蜗植入(cochlear implantation,CI)术后的效果.方法 根据耳聋基因检测结果,将40名单侧CI患儿分成3组:GJB2组包括15名GJB2基因突变患儿,SLC26A4组包括8名SLC26A4基因突变患儿,对照组组包括17名未发现GJB2、SLC26A4及线粒体基因突变患儿.术后效果采用听觉意义整合量表(Meaningful Auditory Integration Scale,MAIS)、听觉行为分级标准(Categories of Auditory Performance,CAP)、规范学语时期出现时间、言语可懂度分级标准(Speech Intelligibility Rating,SIR)进行评估,比较3组术后1年效果差异的统计学意义.结果 GJB2基因突变组在MAIS及CAP两项评估中均明显优于其他两组,其差异有统计学意义.GJB2组的规范学语出现时间及SIR相较于另外两组也具有一定优势,但差异无统计学意义.SLC26A4组略优于非基因突变组,尽管统计学分析显示各项评估结果无显著差异.结论 因病变部位在耳蜗,GJB2相关性耳聋患儿人工耳蜗植入术后效果较好,SLC26A4相关性耳聋术后是否存在优势有待进一步证实.%Objective To report treatment outcomes in pediatric cochlear implant (CI) patients with mutations in GJB2 or SLC26A4. Methods The case series included 40 children who received unilateral cochlear implants. Fifteen of these children had GJB2-related deafness, 8 had SLC26A4-related deafness, and 17 had neither GJB2 nor SLC26A4 mutations. Evaluation included Meaningful Auditory Integration Scale (MAIS), Categories of Auditory Performance (CAP), Speech Intelligibility Rating (SIR) and Babbling Spurt, and was conducted before and after implantation (up to 1 year). Results The MAIS and CAP performance was better in the GJB2 group than other two groups (P< 0.05). A trend towards better performance for the GJB2 group (vs. The other groups combined) was also observed regarding SIR and the time of Babbling spurt, although statistically insigni?cant. The SLC26A4 group performed better than no-mutation group, although again without statistically significant difference. Conclusion The results of the study seem to support a better performance in children with GJB2-related deafness after cochlear implant, possibly due to the cochlear origin of the defect. The performance of SLC26A 4 patients needs to be further confirmed