【摘要】 目的对不同致聋基因突变患儿人工耳蜗植入后1年的听力言语康复效果进行评估,为人工耳蜗手术前预估术后康复效果提供参考。方法对常见的遗传性聋基因突变热点进行检测,对检测结果为杂合突变的人工耳蜗植入者进行相关基因全序列分析。根据基因结果,80例患儿分为4组,SLC26A4基因突变组、GJB2基因突变组、线粒体基因突变组,对照组为未发现SLC26A4、GJB2、线粒体基因突变患儿,使用声场扬声器测试人工耳蜗植入后助听听阈,采用人工耳蜗植入术后效果评估体系对患儿术后听觉言语能力进行评估,比较4组患儿CI植入术后1年康复效果的差异。结果 CI植入术后1年所有人工耳蜗患儿听觉言语能力较术前明显提高,各组患儿术前术后的听觉言语得分差异显著。GJB2基因突变组的患儿术后1年IT-MAIS、CAP分级和SIR分级得分高于对照组,其差异有统计学意义,声场助听听阈及言语年龄和SLC26A4基因突变组及对照组相比略有优势,但无统计学意义;SLC26A4基因突变组术后1年统计学分析显示各项评估结果略高于对照组,不及GJB2基因突变组,但差异无统计学意义;线粒体12S rRNA基因突变组术后1年仅2例各项得分接近对照组平均水平。结论不同致聋基因突变的患儿CI植入术后听觉言语能力均有改善,GJB2基因突变组人工耳蜗植入后1年效果较好,SLC26A4基因突变组效果优势有待长期观察进一步证实。更多还原

【Abstract】 Objective To explore the rehabilitation outcomes and influencing factors of children with different deafness-susceptible genes in different stages. Methods 80 cases of patients with severe to profound sensorineural deafness have been included in the study. According to the deafness-susceptible gene screening results, patients were divided into groups of SLC26 A4 gene mutations 、GJB2 gene mutations, mitochondrial 12 S r RNA gene mutations, and negative control group with the common deafness gene test. The follow-up period was 1 year, and the postoperative auditory and speech rehabilitation outcomes were assessed by the Chinese version of the cochlear implant evaluation system. Results The speech hearing and language ability of all children with cochlear implant were significantly improved after CI implantation. Postoperative hearing threshold、IT-MAIS, CAP, and SIR scores of children with GJB2 gene mutations were better than those of the negative control group. The difference was statistically significant(P<0.05). The speech age was slightly superior to the other two groups, but there was no statistical significance(P>0.05). The statistical analysis of the follow-up results of the SLC26 A4 gene mutation group showed that the evaluation results were slightly higher than those of the control group, which was less than that of the GJB2 gene mutation group, but the difference was not statistically significant(P>0.05). In the mitochondrial 12 S rRNA gene mutation group, only 2 patients scored close to the control group average. Conclusion There were differences in the rehabilitation outcomes in children with different deafness-susceptible genes after cochlear implantation. The GJB2 gene mutation group showed good long-term auditory performance.更多还原