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

SUN Yongqiang; LI Lin; FU Ying; WANG Ning; LIU Wenjie; DUAN Xinyan; WANG Chunfang; SONG Zhongyi

doi:10.3969/j.issn.1672-2922.2023.05.003

Abstract：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 deaf-ness 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%)re-ceived hearing intervention and 129(38.86%)received cochlear implantation,including are bilateral implants in 42 cas-es 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 heredi-tary 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 me-dian 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.