儿童迟发性感音神经性聋的发现年龄和途径以及病因分析  

The study of detection and etiology of delayed sensorineural hearing loss in children

作　　者：胡艳玲[1] 夏忠芳[1] 姚聪 HU Yanling;XIA Zhongfang;YAO Cong(Otolaryngology Department,Wuhan Children's hospital,Tongji Medical College,Huazhong University of Science and Technology,Wuhan,430016,China;Healthcare Department,Wuhan Children's hospital,Tongji Medical College,Huazhong University of Science and Technology)

机构地区：[1]华中科技大学同济医学院附属武汉儿童医院耳鼻喉科,武汉430016 [2]华中科技大学同济医学院附属武汉儿童医院保健部

出　　处：《临床耳鼻咽喉头颈外科杂志》2025年第3期260-264,共5页Journal of Clinical Otorhinolaryngology Head And Neck Surgery

基　　金：武汉市卫健委新生儿耳聋基因科研专项(No:201401105)。

摘　　要：目的:探讨儿童迟发性聋的发现年龄和途径及其病因,为临床早期诊断提供帮助。方法:对出生后通过新生儿听力筛查,并于2021年1月至2022年9月确诊为感音神经性聋患儿进行回顾性分析,研究66例病史完整、听力学检查、影像学检查及耳聋基因检测完善患儿的临床特征,并对患儿在年龄组别、检出途径、听力损失程度间分布差异进行统计学分析。结果:①年龄7个月~12岁,以3岁以上居多。②途径分别为:发现听力异常就诊23例(34.85%),因语言落后就诊21例(31.82%),体检发现15例(22.73%),因中耳炎就诊被发现7例(10.61%);体检发现集中在≤1岁或3~6岁。③其中56例双耳听力损失的程度为轻度至重度不等,3岁以内以重度及以上居多;不同发现途径在听力损失程度分布上差异有统计学意义(P<0.001),因听力或语言问题就诊的患儿,其听力损失多为中重度及以上,且比例显著高于经体检或中耳炎就医的患儿。④病因分析:GJB2基因致病性突变21例(31.82%);大前庭水管综合征9例(13.64%),其中7例与SLC26A4基因突变相关;有新生儿期听力损失高危因素8例(12.12%);幼儿期重症感染高热后逐渐语言丧失1例(1.52%);单侧耳蜗神经发育不良1例(1.52%)。结论:迟发性聋在各年龄段均可能发生,不容易及时发现,其病因与耳聋相关基因突变、可能导致耳聋的高危因素相关。全面开展儿童期的听力以及耳聋基因联合筛查,指导家长观察孩子听力反应和语言发育,特别加强有听力损失高危因素儿童的随访,有利于迟发性聋的早期发现。Objective To investigate the detection of the age and pathway and the etiology of sensorineural hearing loss in children,and to guide the early diagnosis.Methods A retrospective analysis was conducted on the children who passed neonatal hearing screening but were diagnosed with sensorineural hearing loss in our department from January 2019 to September 2022.The clinical characteristics of 66 children with complete medical history,audiology examination,imaging examination and genetic detection of hearing loss were studied.The age group,detection route and degree of hearing loss were analyzed statistically.Results①The children were aged from 7 months to 12 years old,and most of them were over 3 years old.②The ways of detection were as follows:23 cases(34.85%)due to abnormal hearing,21 cases(31.82%)due to poor language,15 cases(22.73%)found during physical examination,and 7 cases(10.61%)found with otitis media.Physical examination findings were concentrated in children aged≤1 year old or 3-6 years old.③Among the 56 cases,the degree of binaural hearing loss ranged from mild to severe,and most of those within 3 years of age had severe or above hearing loss.There were statistically significant differences in the degree of hearing loss distribution among different detection approaches(P<0.001).Most children with hearing or language problems had moderate to severe or above hearing loss,and the proportion was significantly higher than that of children detected during physical examination or otitis media.④There were 21 cases(31.82%)with a pathogenic mutation of GJB2 gene and 9 cases(13.64%)of large vestibular aqueduct syndrome,7 of which were related to SLC26A4 gene mutation.There were 8 cases(12.12%)with high risk factors of hearing loss.There was 1 case(1.52%)with progressive speech loss after severe infection and high fever and 1 case(1.52%)with unilateral cochlear nerve dysplasia.Conclusion Delayed hearing loss can occur at all ages and was not easy to be detected in time.The etiology was related to the mutat

关 键 词：迟发性聋 听力筛查 儿童 

分 类 号：R764.43[医药卫生—耳鼻咽喉科]