听力学
医学
人工耳蜗植入
康复
突变
基因突变
听神经病
听力损失
遗传学
基因
物理疗法
生物
作者
Qin Wang,Jinglu Hu,Panpan Bian,Chi Chen,Yanli Wang,Shan Cheng,Yufen Guo,Baicheng Xu
标识
DOI:10.1080/00016489.2023.2174592
摘要
Background SLC26A4 gene mutations related to hearing loss patients can obtain good hearing and speech rehabilitation effects after cochlear implantation (CI).Objective To explore the long-term rehabilitative outcomes of CI in patients with different SLC26A4 mutation groups.Material and Methods Clinical data of 71 patients with SLC26A4 gene mutations who received CI in the Second Hospital of Lanzhou University from 2012 to 2015 were retrospectively reviewed. According to the genetic test results, use One-way ANOVA analysis to compare the differences in auditory results, categories of auditory performance (CAP) and speech intelligibility rating (SIR) index questionnaire scores and speech recognition rates among different groups in 4-5 years after CI.Result Compared with other genotypes of SLC26A4, the patients with homozygous mutation of c.919-2A > G in SLC26A4 had better hearing aid threshold at 500 Hz and better recognition rates of Yangyang words than other monoallelic mutation groups after CI (p < .05).Conclusions and Significance The most common hot spot mutation of SLC26A4 gene is c.919-2A > G. The patients with homozygous mutation of c.919-2A > G in SLC26A4 gene had partly better hearing and speech rehabilitation than other monoallelic mutation groups after CI.
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