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

发布时间：2018-10-11 18:08

【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 1555AG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。
[Abstract]:Objective: to explore the early detection and intervention of children with delayed hearing loss in primary hospitals. Methods: 52 cases of hearing screening at birth, However, in follow-up observation and hearing care, children with abnormal hearing behavior were diagnosed by audiology and imaging and were given corresponding intervention. 7 children with high risk factors of hereditary deafness were referred to higher hospitals for genetic screening of deafness susceptibility genes. According to the results of screening, preventive guidance and hearing follow-up intervention were given. Results: there were 52 cases of delayed hearing loss and speech loss, including 4 cases of auditory neuropathy, 4 cases of unilateral sensorineural deafness, 27 cases of secretory otitis media, 13 cases of binaural sensorineural hearing loss. Seven children with high risk factors of hereditary deafness were selected for deafness susceptibility gene screening, including mitochondrial DNA 1555AG heterozygosity mutation in 2 cases, GJB2 235delc heterozygosity mutation in 3 cases, and GJB2 235delC and 299del AT compound heterozygosity mutation in 1 case. Close follow-up showed that the children had hearing loss at the age of 2 years, and gave the intervention in time, and one case was followed up closely without detection and positive mutation. Conclusion: children's hearing behavior observation and deafness gene screening in high-risk individuals can detect children's delayed hearing loss in time and can be popularized in primary hospitals.
【作者单位】：中山市中医院耳鼻咽喉科;中山大学附属第三医院耳鼻咽喉头颈外科耳内科;中山大学附属第三医院产前诊断实验室;
【分类号】：R764.43

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