GJB2基因突变致聋患儿人工耳蜗植入效果分析

目的 比较GJB2基因突变致聋患儿与非GJB2基因突变且内耳结构正常聋儿人工耳蜗植入术后的听觉言语康复效果.方法 对37例经C下及MRI检查排除内耳畸形的聋儿术前行GJB2基因检查,根据结果 分成A组(GJB2基因突变10例)和B组(非GJB2基因突变27例),术后随访0.5～2年,进行术后的听阈、言语识别率及言语能力评估.结果 37例聋儿人工耳蜗植入手术全部成功,均建立了主观听性反应.A组的声场听阈水平平均为34.41±6.12 dB HL.言语识别率平均为76%; B组的声场听阈水平平均为36.23±4.16 dB HL.言语识别率平均为79%,两组均达到平均言语康复级别二级;两组听觉及言语能力测试结果 均无统计学意义(P>0.05).结论 人工耳蜗患者中GJB2基因突变率高,可能是内耳结构正常的人工耳蜗植入人群耳聋的主要致聋原因;GJB2基因突变致聋患儿与非GJB2基因突变且内耳结构正常聋儿人工耳蜗植入术后效果基本一致.人工耳蜗植入可作为GJB2基因突变致聋患儿的有效治疗手段.

An Analysis of the Effects of Cochlear Implantation for Children with GJB2-related Hearing Loss

objective To compare the auditory and speech rehabilitation outcomes between children with GJB2-related hearing loss and those with non-GJB2-related hearing loss and normal inner ear structure. Methods Thirty-seven children underwent the CT and MRI examinations to exclude inner ear diseases, and received the GJB2 gene test before the cochlear implantation. According to the test results, the children were divided into Group A（10 cases with GJB2 mutation） and Group B （27 cases without GJB2 mutation）. After the surgery, the follow-up study was conducted for 6 months through 2 years to evaluate their hearing thresholds, speech recognition scores and speech abilities. Results The cochlear implantation was successful and the subjective responses were observed in all the 37 cases after the surgery. The average hearing threshold of Group A was 34.41±6.12 dB HL and the speech recognition score was 76%; the average hearing threshold of Group B was 36.23±4.16 dB HL and the speech recognition score was 79%. Both groups have met the standards of speech rehabilitation level 2, There was no significant difference in the auditory and speech recognition score between Group A and B （P〉0.05）. Conclusion The occurrence of GJB2 mutation is high among patients with cochlear implants, indicating that this mutation is the major cause of deafness for patients with normal inner ear structures. The post-operative rehabilitation outcome is similar between children with and without GJB2-related hearing loss, which proves that cochlear implantation is an effective therapy for hearing-impaired children with GJB2 mutation.