46例人工耳蜗植入患者耳聋基因检测结果与听觉言语康复效果的相关性分析  

An association analysis on the outcomes of deafness gene mutation with the rehabilitation efficacy in the auditory and speech function among 46 patients undergone cochlear implant

作　　者：李培培[1] 臧艳[1] 何萍 朱伟[1] 石飞 李红武[1] LI Peipei;ZANG Yan;HE Ping;ZHU Wei;SHI Fei;LI Hongbin(Clinical Center of Public Health,Dept.Otolaryngology-Head&Neck Surgery,North District of the First Affiliated Hospital,Anhui Medical University,Hefei,230011,China)

机构地区：[1]安徽省公共卫生临床中心(安徽医科大学第一附属医院北区)耳鼻咽喉头颈外科,安徽合肥230011

出　　处：《中国中西医结合耳鼻咽喉科杂志》2025年第2期95-100,共6页Chinese Journal of Otorhinolaryngology in Integrative Medicine

基　　金：安徽省转化医学研究院科研基金培育项目(2021zhyx-C74);安徽医科大学校科研青年科学基金项目(2023xkj046);安徽省公共卫生临床中心院科研培育基金(2023YKJ09)。

摘　　要：目的探讨耳聋基因突变与内耳畸形对人工耳蜗植入患者术后听觉言语功能康复效果的影响。方法回顾性分析2021年8月~2023年8月在我科接受人工耳蜗植入并且完成耳聋基因检测的46例患者临床资料及手术前后听力学资料。术前行高分辨率CT及MRI评估内耳形态,采用听觉行为分级标准(CAP)和言语可懂度分级标准(SIR)进行手术前后听功能及言语能力评估,比较分析术后听觉言语康复效果,分析相关变量对术后听觉言语康复效果的影响。结果本组患者耳聋基因检测突变阳性率为71.74%(33/46),存在内耳畸形的患者32.61%(15/46)。突变类型主要为GJB2和SLC26A4,其突变率分别为39.13%(18/46)、23.91%(11/46)。常见内耳畸形为大前庭水管综合征(LVAS)和LVAS伴Mondini畸形,二者占比达86.67%(13/15)。术后随访6个月,耳聋基因阳性组与阴性组以及耳聋基因阳性伴内耳畸形组、耳聋基因阳性不伴内耳畸形组与耳聋基因阴性组对比分析结果显示,术后3和6个月CAP、SIR评分均较术前明显提高,且随着术后时间的延长而有继续提升趋势(P<0.05);但在相同时间点,不同组的CAP、SIR评分差异比较均无显著性统计学意义(P>0.05)。结论无论是否存在耳聋基因突变和内耳畸形,人工耳蜗植入术均能够提升其听觉言语能力,对患者术后近期听觉言语康复效果无明显影响。Objective To explore the effects of deafness gene mutations related inner ear malformations on the rehabilitation efficacy in auditory and speech function among patients undergone cochlear implantation.Methods A retrospective study was carried out among 46 patients,who completed deafness gene test,and then,received cochlear implantation in our department from Aug.2021 to Aug.2023,with their clinical data analyzed carefully.High-resolution CT and MRI scans were used to evaluate the structure features of the inner ear preoperatively.The categories of auditory performance(CAP)and the speech intelligibility rating(SIR)were used to evaluate the auditory and speech function before and after the operations respectively for postoperative evaluation on the impact of these variables on the rehabilitation efficacy in auditory and speech function following cochlear implantation.Results In this group of cases undergone cochlear implants,the positive rate of deafness gene mutation was 71.74%(33/46),and the rate of inner ear malformations was 32.61%(15/46)among these 46 cases.GJB2 and SLC26A4 mutations were the most frequently detected mutation types and with their mutation rates being 39.13%(18/46)and 23.91%(11/46)respectively.The most commonly determined inner ear malformations were large vestibular aqueduct syndrome(LVAS)and LVAS with Mondini malformation,accounting for 86.67%(13/15)of the inner ear malformations.By the end of a short-term follow-up period lasted 6 months after surgery,a comparative analysis on the changes in the scores of CAP and SIR showed that their scores were significantly elevated postoperatively by the time points of 3rd 6th months,with a tendency continuously elevating with the postoperative period extending(P<0.05)among cases no matter with or without deafness gene mutation,deafness gene mutation with or without inner ear malformation,or with no deafness gene mutation.However,no obviously statistic significances were found in the scores of CAP and SIR at the same time points as determined at any tes

关 键 词：耳聋基因突变 内耳畸形 人工耳蜗植入 听觉言语康复效果 

分 类 号：R764.9[医药卫生—耳鼻咽喉科]