Analysis Of Hot-spot Gene Screening For Deafness And Its Postoperative Effect In Patients With Cochlear Implant

Objective: 1.To understand the mutation site and detection rate of hot-spot deafness gene in cochlear implant patients in xinjiang region;2.To study the speech recovery of patients with deafness gene mutation after cochlear implantation.Methods: A total of 200 cases of unilateral cochlear implantation in the department of otolaryngology,xinjiang uygur autonomous region people’s hospital from June 2016 to June 2018 were collected。All patients with cochlear implant were performed with Singer sequencing method for hot spot deafness gene detection before surgery,and the gene detection results were analyzed.According to the gene screening results,they were divided into GJB2 group,12 SrRNA group,SLC26A4 group,compound gene mutation group,and control group with no detected gene mutation.All patients were switched on by professional audiologists 4 weeks after surgery,and speech rehabilitation was carried out in the Xinjiang Uyghur Autonomous Region Disabled Persons ’Federation for 1 year.13 patients were lost to follow-up.Collected 187 patients with preoperative behavioral audiometry,behavioral audiometry at 1,6,and 12 months postoperatively,Auditory Performance Rating(CAP)and Speech Intelligibility Rate(SIR)for Statistical analysis.Results: 1.In this study,200 cochlear implant patients were included,and the overall detection rate of gene mutation was 39.5%.The highest detection rate was GJB2 gene(17%,34/200),the highest detection rate of GJB2 gene was 235 delC(11%),followed by 35delG(4%),followed by SLC26A4 gene(16%,32/200).The third detection rate was 12 SrRNA,5.5%(11/200).The detection rate of complex gene mutation was 1%(2/200),and 60.5%(121/200)of the patients with undetected gene mutation.2.Behavioral audiometry results show:The behavioral audiometry of the four groups improved significantly after the operation and gradually decreased with the extension of the recovery time(P<0.05).The results of behavioral audiometry of the four groups showed no statistically significant difference between the groups(P>0.05).3.CAP score results show:Four groups of patients with CAP score as the extension of recovery time increased(P < 0.05).The CAP scores of patients with SLC26A4 gene mutation group were better than those of the control group on average 1,6 and 12 months after surgery,and the difference between the groups was statistically significant(P < 0.05).Compared with the control group,the CAP of patients with GJB2 gene mutation was statistically significant 12 months after surgery(P < 0.05).4.SIR score results show:The SIR score of the four groups gradually increased with the extension of the recovery time(P<0.05).The SIR scores of the four groups showed no statistically significant difference between the groups(P>0.05).Conclusion: 1.The mutation of GJB2 gene has the highest detection rate among cochlear implant patients in xinjiang,with the most common locus being 235de1 C,followed by 35 delG,which is one of the important causes of hearing impairment in cochlear implant patients in xinjiang.2.Patients with SLC26A4 gene mutation and GJB2 gene mutation showed a better prognosis after CI,which may be related to genotype,so it is particularly important for patients to undergo genetic testing before surgery.