| Objective:To determine genetic etiology of cochlear implant (CI) recipients, investigate the auditory performance and speech intelligibility and provide clinical guidance for the children who need CI.Methods:We enrolled 187 patients who received CI in Shandong provincial hospital from January,2013to May,2014. The cohort included 110boys and 77 girls with implantation ages of between 1 years old and 7 years old,average was 3.86years old. Genomic DNA was extracted from the blood of all patients,and 9 hot mutation points of 4 national common deafness gene:GJB2 35delG 176del16235delC 299delAT,SLC26A4 2168 A>G IVS7-2 A>G, mitochondrial 12S rRNA 1494C>T 1555A>G and GJB3 538C>T were screened by gene microarray.11 patients were lost to follow up, and the rest 176 patients received auditory and speech rehabilitation evaluations, including the Meaningful Auditory Integration Scale (MAIS), categories of auditory performance (CAP),speech intelligibility rating (SIR) and cochlear implant aided threshold 1month after the implantation,3 months after the implantation,6 months after the implantation. Statistical analysis was performed using software SPSS 19.0, mixed linear model for MAIS and behavior audiometry threshold, generalized estimating equations for evaluating CAP and SIR scores.Results:1.Based on the genetic screening results, patients were divided into five groups.Group A:GJB2 gene mutations (homozygous or heterozygous)65 patients, 34.76%;Group B:SLC26A4 gene mutations (homozygous or heterozygous)33 patients,17.65%;Group C:mitochondrial gene mutations 9 patients,4.81%;Group D:Others,2 patients,1.07%;Group E:negative 78 patients,41.71%;2.Mean scores of MAIS (x±s) of the following-up patients preoperatively and 1 month after implantation,3months after implantation,6months after implantation tested by the educational audiologist were respectively 12.14±10.49,16.05±8.51, 22.16±7.67,29.52±6.46, time difference was significant (p<0.05). Comparing GJB2 group, SLC26A4 group and control group, mean score of each group were respectively 18.78 ± 0.59,20.15 ± 0.78,18.41 ±0.51, there was no significant difference among groups(p>0.05).3.Mean value of CAP (x±s) of the following-up patients at 4 time points as has been noted were respectively 2.15±1.92,2.64±1.79,3.57±1.50,4.53±1.16, time difference was significant (p<0.05). Comparing GJB2 group, SLC26A4 group and control group, there was no significant difference among groups(p>0.05).4.Mean value of SIR (x±s) of the following-up patients at 4 time points as has been noted were respectively 1.23±1.34,1.45±1.17,1.88±1.23,2.41±1.06, time difference was significant(p<0.05). Comparing GJB2 group, SLC26A4 group and control group, there was no significant difference among groups(p>0.05).5.CI aided auditory threshold of the following-up patients at 3 time points as has been noted were 64.40±19.3dB,46.66±13.18dB,37.65±8.7 dB, time difference was significant p<0.05). Mean auditory threshold of GJB2 group, SLC26A4 group and control group were respectively 52.0±1.4dB,48.3±2.0 dB and 50.19±1.3 dB, there was no significant difference among groups (p>0.05).Conclusions:GJB2 gene mutation accounts for the first place in CI recipients, followed by SLC26A4 gene, whereas mitochondrial gene and GJB3 gene mutation are not common. Bilateral severe-profound sensorineural deafness children after CI can obtain good effect of auditory and speech rehabilitation, and there’s a positive correlation between the effect and the implantation time. There’s no significant difference about auditory and speech rehabilitation among GJB2 group, SLC26A4 group and control group 6 months after operation. It confirmed that even if gene mutation screen was positive,rehabilitation is as sure as the negative group. |
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