Abstract：
Cochlear implantation is the treatment of choice for children with profound sensorineural hearing impairment (SNHI), yet the outcomes of cochlear implants (CI) vary significantly across individuals. To investigate the CI outcomes in pediatric patients with SNHI due to various etiologies, we prospectively recruited children who underwent CI surgery at two tertiary referral CI centers from 2010 to 2021. All patients underwent comprehensive history taking, next generation sequencing (NGS)-based genetic examinations, and imaging studies. The CI outcomes were evaluated using Categories of Auditory Performance (CAP) and Speech Intelligibility Rating (SIR) scores. Of the 160 pediatric cochlear implantees (76 females and 84 males) included in this study, comprehensive etiological work-up helped achieve clinical diagnoses in 83.1% (133/160) of the patients, with genetic factors being the leading cause (61.3%). Imaging studies identified certain findings in 31 additional patients (19.3%). Four patients (2.5%) were identified with congenital cytomegalovirus infection (cCMV), and 27 patients (16.9%) remained with unknown etiologies. Pathogenic variants in the four predominant non-syndromic SNHI genes (i.e., SLC26A4, GJB2, MYO15A, and OTOF) were associated with favorable CI outcomes (Chi-square test, p = 0.023), whereas cochlear nerve deficiency (CND) on imaging studies was associated with unfavorable CI outcomes (Chi-square test, p < 0.001). Our results demonstrated a clear correlation between the etiologies and CI outcomes, underscoring the importance of thorough etiological work-up preoperatively in pediatric CI candidates.
摘要：
人工耳蜗植入是患有严重感觉神经性听力障碍（SNHI）的儿童的首选治疗方法，然而,人工耳蜗植入(CI)的结果因个体而异.为了调查由于各种病因导致的SNHI儿科患者的CI结果，我们前瞻性招募了2010年至2021年在两个三级转诊CI中心接受CI手术的儿童.所有患者均接受综合病史记录，基于下一代测序（NGS）的基因检查，和成像研究。使用听觉表现类别（CAP）和语音清晰度等级（SIR）评分评估CI结果。在这项研究中纳入的160名小儿耳蜗植入者（76名女性和84名男性）中，全面的病因检查帮助83.1%(133/160)的患者实现了临床诊断，遗传因素是主要原因(61.3%)。影像学研究在另外31名患者中确定了某些发现（19.3％）。4例患者（2.5%）被确定为先天性巨细胞病毒感染（cCMV），27例患者(16.9%)病因不明。四个主要的非综合征SNHI基因中的致病变异(即，SLC26A4,GJB2,MYO15A,和OTOF)与有利CI结果相关(卡方检验，p=0.023),而影像学研究中的耳蜗神经缺陷(CND)与不利的CI结果相关(卡方检验,p<0.001)。我们的结果表明病因和CI结果之间有明显的相关性，强调对儿科CI候选人进行术前彻底病因检查的重要性。
