【摘要】 目的 探讨GJB2或SLC26A4基因突变对早期人工耳蜗植入（cochlear implantation,CI）儿童听觉言语发展的影响。方法 选择于我科接受单侧CI的双耳重度极重度感音神经性聋患儿211例为研究对象，植入年龄为0.67-3.5岁，根据基因检测结果分为GJB2基因突变组共65例、SLC26A4基因突变组共42例，以及未检出基因突变者104例为对照组。分别于术前、开机后6个月、12个月、18个月、24个月及36个月时评估CI儿童的听觉言语能力。评估工具包括：婴幼儿有意义听觉整合量表（Infant-Toddler Meaningful Auditory Integration Scale, ITMAIS）或有意义听觉整合量表(Meaningful Auditory Integration Scale, MAIS)，听觉行为分级(Categories of Auditory Performance,CAP)，汉语沟通发展量表(Putonghua Communicative Development Inventory, PCDI)以及有意义言语使用量表(Meaningful Use of Speech Scale, MUSS)。结果 随着康复时间的延长，三组CI儿童的听觉言语能力逐步提升。GJB2组在术前及术后各随访时间点的听觉言语能力得分和对照组相比差异无统计学意义（P>0.05）。SLC26A4组的ITMAIS/MAIS得分在术前、开机6个月、12个月及18个月时优于对照组（P<0.05）,CAP得分在术前及开机6个月时优于对照组（P<0.05）,PCDI得分在术前、开机6个月及12个月时优于对照组（P<0.05）。在其余随访时间点，SLC26A4组CI儿童的听觉言语能力得分和对照组CI儿童相比差异无统计学意义（P>0.05）。结论 GJB2或SLC26A4基因突变预示良好的植入后听觉言语康复效果。SLC26A4基因突变对植入后早期的听觉言语发展有积极作用。基因检测有助于预估CI儿童的康复效果。更多还原

【Abstract】 Objective To report effects of GJB2 or SLC26A4 gene mutations on auditory and speech development in children with congenital hearing loss after early cochlear implantation(CI). Methods Among the 211 children with unilateral CIs were included in the study, 65 had GJB2 mutations, 42 had SLC26A4 mutations, and 104 had neither GJB2 nor SLC26A4 mutations. All the children were evaluated before implantation and at 6, 12, 18, 24 and 36-months after CI activation, including their auditory and speech development using the Infant-Toddler Meaningful Auditory Integration Scale(ITMAIS) or Meaningful Auditory Integration Scale(MAIS), Category of Auditory Performance(CAP),Putonghua Communicative Development Inventory(PCDI) and Meaningful Use of Speech Scale(MUSS). Results Children with GJB2 mutations showed similar auditory and speech performance as those without mutations at all test intervals(P>0.05). Children with SLC26A4 mutations showed better auditory speech performance compared with children in the control group before implantation and at 6-, 12-and 18-month intervals after CI activation(P<0.05), with word reception scores higher before implantation and at 6-and 12-month intervals after CI activation(P<0.05) but not at the other time intervals(P>0.05). Conclusion Children with GJB2 or SLC26A4 mutation are expected to achieve good auditory and speech development after CI. SLC26A4 mutation may have a favorable effect on rehabilitation outcomes in the early stage. Gene test may be helpful in the prognosis of rehabilitation outcomes after CI.更多还原