Wu Chen-Chi, Lee Yi-Chin, Chen Pei-Jer, Hsu Chuan-Jen
Division of Pediatric Otolaryngology, Department of Otolaryngology, National Taiwan University Hospital, 7 Chung-Shan S Rd, Taipei 100, Taiwan.
Arch Pediatr Adolesc Med. 2008 Mar;162(3):269-76. doi: 10.1001/archpediatrics.2007.59.
To investigate the roles of genetic diagnosis and imaging studies, as well as other prognostic factors, in predicting outcomes in children with cochlear implant.
Prospective cohort study.
Tertiary referral center.
Sixty-seven consecutive children with sensorineural hearing impairment who had at least 3 years of experience with cochlear implant.
Imaging of the inner ear was done with high-resolution computed tomography, and mutations were screened in 3 genes commonly associated with pediatric hearing impairment: GJB2, SLC26A4, and the mitochondrial 12S ribosomal RNA gene. Speech perception performance was compared according to genetic diagnosis and imaging data. A general linear model was constructed to demonstrate the predictive values of specific genetic and imaging results after adjusting for other factors. Main Outcome Measure Recognition scores on speech perception tests.
Twenty-two children (33%) showed genetic mutations: 18 with SLC26A4 and 4 with GJB2 mutations. According to imaging findings, 33 children (49%) showed inner ear malformations: 9 with a narrow internal auditory canal and 24 with other malformations. All children with SLC26A4 or GJB2 mutations exhibited excellent speech recognition scores, whereas a narrow internal auditory canal was associated with poorer outcomes (P < .001 in all recognition scores). The general linear model confirmed that both a narrow internal auditory canal (P < .001) and SLC26A4 mutations (P = .04) correlated with speech perception outcome.
Genetic diagnosis and imaging results are the 2 predominant factors determining the outcome in children with cochlear implants. In pediatric candidates for cochlear implantation, both genetic examination and imaging studies should be included in the battery of preoperative evaluations.
探讨基因诊断、影像学检查以及其他预后因素在预测人工耳蜗植入儿童预后中的作用。
前瞻性队列研究。
三级转诊中心。
67例连续性感音神经性听力损失儿童，他们接受人工耳蜗植入至少3年。
采用高分辨率计算机断层扫描对内耳进行成像，并对3个与儿童听力损失常见相关基因（GJB2、SLC26A4和线粒体12S核糖体RNA基因）进行突变筛查。根据基因诊断和影像学数据比较言语感知表现。构建一般线性模型以显示在调整其他因素后特定基因和影像学结果的预测价值。主要结局指标为言语感知测试中的识别分数。
22例儿童（33%）显示基因突变：18例为SLC26A4突变，4例为GJB2突变。根据影像学结果，33例儿童（49%）显示内耳畸形：9例为内耳道狭窄，24例为其他畸形。所有携带SLC26A4或GJB2突变的儿童均表现出优异的言语识别分数，而内耳道狭窄与较差的预后相关（所有识别分数中P < 0.001）。一般线性模型证实，内耳道狭窄（P < 0.001）和SLC26A4突变（P = 0.04）均与言语感知结局相关。
基因诊断和影像学结果是决定人工耳蜗植入儿童预后的两个主要因素。在人工耳蜗植入的儿科候选者中，基因检查和影像学研究均应纳入术前评估项目中。
