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，WuhanChildren's hospital，Tongji Medical College，Huazhong University of Science and Technology.
Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2025 Mar;39(3):260-264. doi: 10.13201/j.issn.2096-7993.2025.03.014.
To investigate the detection of the age and pathway and the etiology of sensorineural hearing loss in children, and to guide the early diagnosis. 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. ①The 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（<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 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. Delayed hearing loss can occur at all ages and was not easy to be detected in time. The etiology was related to the mutation of deafness-related genes and the high risk factors of hearing loss. Combining hearing and gene screening in childhood, guiding parents to observe children's hearing response and language development, especially strengthening the follow-up of children with high risk factors for hearing loss, is conducive to the early diagnosis of delayed hearing loss.
探讨儿童感音神经性听力损失的年龄、发现途径及病因，以指导早期诊断。对2019年1月至2022年9月在我科通过新生儿听力筛查但被诊断为感音神经性听力损失的儿童进行回顾性分析。研究66例有完整病史、听力学检查、影像学检查及听力损失基因检测的儿童的临床特征。对年龄组、发现途径及听力损失程度进行统计学分析。①患儿年龄7个月至12岁，以3岁以上居多。②发现途径如下：听力异常23例（34.85%），语言发育差21例（31.82%），体检发现15例（22.73%），中耳炎发现7例（10.61%）。体检发现集中于≤1岁或3 - 6岁儿童。③56例中，双耳听力损失程度从轻度到重度，3岁以内患儿多数为重度及以上听力损失。不同发现途径的听力损失程度分布有统计学差异（<0.001）。听力或语言有问题的患儿多数为中度至重度及以上听力损失，其比例显著高于体检或中耳炎发现的患儿。④GJB2基因突变21例（31.82%），大前庭导水管综合征9例（13.64%），其中7例与基因突变有关。听力损失高危因素8例（12.12%）。严重感染高热后进行性言语听力损失1例（1.52%），单侧蜗神经发育异常1例（1.52%）。迟发性听力损失可发生于各年龄段，且不易及时发现。病因与耳聋相关基因突变及听力损失高危因素有关。儿童期结合听力与基因筛查，指导家长观察儿童听力反应及语言发育，尤其加强听力损失高危因素儿童的随访，有利于迟发性听力损失的早期诊断。
