The Analysis Of The Results Of The Screening Of The Hearing-screening Combined Deafness Gene Of Children In The Northeast Of Sichuan

Objective:1.To explore the clinical significance of hearing screening combined with deafness gene screening in early childhood hearing and verbal development monitoring.2.Exploring the Management Model of Children's Hearing Health in Northeast Sichuan.Methods:Monitoring early hearing and verbal development in children by means of hearing-verbal-genetic examination.Subjects for infants were borned in the hospital from october 2018 to september 2019 and/or for hearing screening and diagnosis.1.Group A:189 cases newborns who were born in obstetrics department of the affiliated hospital of the North Sichuan Medical College were screened for hearing and deafness genes voluntarily.Group B:A randomized collection of 71 children who were diagnosed with hearing and speech diseases in the otorhinolaryngology outpatient clinic of the affiliated hospital of the North Sichuan Medical College aged 0 to 8,and they were voluntarily screened for deafness genes.2.We made a questionnaire survey about the cognition and demand of deafness gene test for 260 parents of A and B children.3.The statistical method used SPSS22.0 to analyze the experimental data,and the comparison between groups by ?2 test,and the difference of P<0.05 was statistically significant.Results:Results of Group A:1.Hearing screening(initial or rescreening)failed a total of 11 cases(5.82%,11/189),six people were tested positive for deafness gene(3.17%,6/189).Among them,hearing screening failed and deafness gene screening positive 2 cases,hearing screening passed and gene screening negative 174 cases,hearing screening failed but gene screening negative 9 cases,hearing screening passed but gene screening positive 4 cases.There was a statistically significant difference of the deafness gene carrying rate between the non-pass group and the passing group(P<0.05).2.Primary screening of high-risk newborns failed 6 cases,passed 0 cases,primary screening of ordinary newborns failed 82 cases,passed 101 cases,there was significant difference between the two groups(P<0.05).3.Three months ABR hearing diagnosis did not pass 4 cases,among them 2 cases were deafness gene carriers,ABR hearing diagnosis passed 7 cases.Results of Group B:1.A total of 45 children failed hearing screening(63.38%,45/71).Hearing diagnosis(Single ear or Bear)failed in 43 cases(60.56%,43/71).Among them,2 cases had positive deafness gene screening and showed speech retardation,1 case of speech retardation but negative screening for common deafness genes.2.Genetic screening of 14 positive(19.72%,14/71),including 2 cases of GJB2 235delC homozygous mutation,5 cases of heterozygous mutation,1 case of GJB2 176de116 heterozygous mutation,2 cases of SLC26A4 IVS7-2A>G heterozygous mutation and 1 cases of SLC26A4 2168A>G heterozygous mutation,2 cases of homogeneous mutation of 12s rRNA 1555A>G and 1 case of heterogeneous mutation.Results of the questionnaire:43 children's families(16.54%)had no knowledge of deafness gene at all,142 cases(54.61%,142/260)only heard of it,49 cases(18.85%,49/260)had a little knowledge,and 26 cases(10%,26/260)had a better understanding.Family members of 196 children(75.38%,196/260)expressed confidence in the results of the deafness genetic test,57 cases(21.92%,57/260)were skeptical and 7 cases(2.69%,7/260)were not believed.Family members of 159 cases(61.15%,159/260)children indicated an urgent need for knowledge of genetic testing of deafness,73 cases(28.08%,73/260)expressed great interest and 21 cases(8.08%,21/260)table showed interest,and 7 cases(2.69%,7/260)indicated no interest.Conclusion:1.Early hearing ability in neonates is closely related to deafness genes.2.High risk factors were significantly correlated with the results of hearing screening.3.The common deafness gene is GJB2 235delC mutation(rate of mutation 4.23%)in northeast of Sichuan.4.At present,there is a general lack of knowledge about deafness gene detection in northeast of Sichuan,and the coverage of deafness gene screening is low,so it is necessary to strengthen the popular science of deafness gene detection knowledge,it is the focus of future work.