青岛市听障儿童听力和耳聋基因筛查及随访分析

Hearing and Deafness Gene Screening among Children with Hearing Impairment in Qingdao and Follow-Ups

目的分析青岛市听障患儿听力筛查结果、耳聋基因筛查结果、干预时间和方式以及随访结果,提高青岛市遗传性耳聋的检出率及早期干预率。方法研究对象为2018年1月~2020年12月在青岛市残疾人联合会登记注册的听障患者350例,分析其听力筛查及耳聋基因筛查情况,并对听力损失程度、干预时间及方式进行评估随访。结果350例听障患者中,初筛未通过率为93%。进行耳聋基因检测的132例患者中,耳聋基因阳性者87例,GJB2基因突变45例,占耳聋基因阳性检出率51.72%(45/87),SLC26A4基因突变31例,占耳聋基因阳性检出率的35.63%(31/87),GJB3基因突变1例,占耳聋基因阳性检出率的1.15%(1/87),线粒体12SrRNA基因突变2例,占耳聋基因阳性检出率的2.30%(2/87);其他耳聋基因突变8例,占耳聋基因阳性检出率的9.20%(8/87)。332例资料完整患者中,117例为双侧极重度听力下降;12例一侧为重度或极重度听力下降,另一侧为中重度听力下降;115例双侧中度听力下降;68例一侧听力中重度下降,另一侧轻度下降;20例双耳听力轻度下降。332例患者中,307例接受了听力干预,干预率为92.46%;接受耳蜗植入129例,耳蜗干预率为38.86%,其中双侧人工耳蜗42例,单侧人工耳蜗87例;人工耳蜗与助听器双模式54例,双侧助听器115例,单侧助听器63例;25例未接受听力干预。助听器初始干预的中位月龄为7个月(4个月~6岁);助听器初始干预月龄6月龄内居多,占51.69%;人工耳蜗干预的中位月龄为26个月(10个月~10岁)。307例接受听力干预的听障患者中,197例接受了言语康复训练,康复率为64.17%,其中7岁以上34例适龄儿童中,有27名就读于正常小学,正常就读率93.33%。结论听力筛查联合耳聋基因检测是及早发现遗传性耳聋的常见方法,本研究听障患者遗传性耳聋的主要突变基因与既往研究基本一致。本组听障患者早期干预率高,助听器和人工耳蜗为主要干预方式,且助听器干预的中位年龄较人工耳蜗早。耳聋患者的早发现、早诊断、早干预及言语康复训练可以减轻因听力损失对其言语功能发育的影响,帮助绝大多数听障儿童回归正常社会及生活。

Objective To report results of hearing and deafness gene screening,intervention time and approach,and follow-ups among children with hearing impairment in Qingdao in order to improve detection and early intervention in hereditary deafness.Method Data from 350 hearing-impaired children registered with the Qingdao Disabled Persons'Federation from January 2018 to December 2020 were analyzed and evaluated,including reports of hearing and deafness gene screening,intervention time and approach,and follow-up interviews.Results Of the 350 children,93%failed the primary screening.Deafness gene testing was conducted in 132 children and abnormal in 87,involving the GJB2(51.72%,45/87),SLC26A4(35.63%,31/87),GJB3(1.15%,1/87)and mitochondrial 12SrRNA genes(2.30%,2/87),as well as other genes(9.20%,8/87).Data were well documented in 332 patients,showing.bilateral profound hearing loss in 117 cases,unilateral severe or profound hearing loss with moderate to severe hearing loss on the contralateral side in 12 cases,bilateral moderate hearing loss 115 cases,unilateral moderate to severe hearing loss with mild hearing loss on the contralateral side in 68 cases,and bilateral mild hearing loss in 20 cases.Out of the 332 cases,307(92.46%)received hearing intervention and 129(38.86%)received cochlear implantation,including are bilateral implants in 42 cases and unilateral implants in 87 cases.Dual mod cochlear implants and hearing aids fitting was implemented in 54 cases.The rest patients received bilateral hearing aids(n=115),unilateral hearing aids(n=68)or no hearing intervention(n=25).The median age at initial hearing aids intervention was 7 months(ranging 4 months to 6 years),with most(51.69%)started at 6 months.The median age of cochlear implant intervention was 26 months(ranging from 10 months to 10 years).Among the 307 patients who received hearing intervention,197 also received speech rehabilitation training,with the effective rate at 64.17%.Among the 34 school-aged(over 7 years)children,27(93.33%)enrolled in regular primary schools.Conclusion Combined hearing and deafness gene screening is a common method for early detection of hereditary deafness.The gene mutations found in this study are essentially consistent with previous studies.The rate of early intervention in this group was high.Hearing aids and cochlear implants were the main intervention methods,and the median age of hearing aids intervention was earlier than that of cochlear implants.Early detection,diagnosis,intervention and speech rehabilitation training can reduce the impact of hearing loss on speech development,and help most hearing impaired children return to normal life and society.