听觉行为观察及高危个体耳聋基因筛查对儿童迟发性听力损失早期诊疗的临床意义研究  

Children′s hearing behavior observations and high risk individual genetic screening for late-onset hearing loss early detection and intervention:exploring a basic-level hospitals model

作　　者：郭亿莲[1] 曾祥丽[2] 刘婷[1] 邹雨滴 叶燕绸[3] 

机构地区：[1]中山市中医院耳鼻咽喉科,广东中山528400 [2]中山大学附属第三医院耳鼻咽喉头颈外科耳内科 [3]中山大学附属第三医院产前诊断实验室

出　　处：《临床耳鼻咽喉头颈外科杂志》2015年第18期1618-1621,共4页Journal of Clinical Otorhinolaryngology Head And Neck Surgery

摘　　要：目的:探讨基层医院对儿童迟发性听力损失早期发现、早期干预的方法。方法:对52例出生时听力筛查通过,但在后续随访观察及例行听力保健中发现听觉行为异常的儿童进行听力学及影像诊断并给予相应干预,7例有遗传性聋高危因素的儿童转诊到上级医院行耳聋易感基因筛查,根据筛查结果给予预防指导及听力随访干预。结果:儿童听觉行为观察发现迟发性听力损失及言语能力减退52例,其中听神经病4例,单侧感音神经性聋4例,分泌性中耳炎27例,双耳感音神经性聋13例,儿童孤独症4例。7例有遗传性聋高危因素儿童转诊行耳聋易感基因筛查,线粒体DNA 1555A>G异质性突变2例,GJB2 235delc杂合突变3例,随访至今听力正常;GJB2 235delC和299del AT位点复合杂合突变1例,对患儿密切随访发现其于2岁左右出现听力下降,及时给予助听干预;1例未查及阳性突变,密切随访。结论:儿童听觉行为观察及对口转诊行高危个体耳聋基因筛查能及时发现儿童迟发性听力损失,适合在基层医院推广。Objective：To explore the methods to detect and intervene childrents late-onset hearing loss early which are suitable for basic-level hospitals. Method： Udiology and imaging diagnosis had been given to the children who passed the newborn hearing screening but showed auditory behavior disorders in the growth process, and indi- vidualized interventions were given according to the results of diagnosis. Seven children with high risk for heredi- tary deafness were sent to superior hospital and had molecular screening of common mutations of inherited deafness carried out, then corresponding prevention guidance and intervention were given to them. Result： Fifty-two cases with late-onset hearing loss or verbal disorders were detected by auditory behavior observations,including 4 cases of auditory neuropathy, 4 cases of unilateral sensorineural deafness, 27cases of secretory otitis media, 13 cases of bilateral sensorineural deafness and 4 cases of autism. Seven newborns with high risk of hereditary deafness were sent to the Third Affiliated Hospital of Sun Yat-Sen University and received molecular screening of common muta- tions of inherited deafness. One case with GJB2 compound heterozygous mutations was detected and followed up to 4 years old, he was found bilateral moderate hearing toss and accepted the hearing aids at 2 years old. Mitochondrial DNA 1555 a 〉 G heterogeneity mutation in 2 cases and GJB2 235 delC single heterozygous mutations in 3 cases, no mutation in 1 case, all these 6 cases have been followed-up until now, their hearing are normal. Conclusion： Childrenrs auditory behavior observations and the superior hospitals referral performing high risk individual screen- ing for newborns with high risk for hereditary deafness can detect childrenrs late-onset hearing loss in time,this model is suitable for basic-level hospitals.

关 键 词：迟发性听力损失 儿童听觉行为观察 高危个体遗传筛查 

分 类 号：R764.43[医药卫生—耳鼻咽喉科]