Wu Che-Ming, Ko Hui-Chen, Tsou Yung-Ting, Lin Yin-Hung, Lin Ju-Li, Chen Chin-Kuo, Chen Pei-Lung, Wu Chen-Chi
Department of Otolaryngology-Head and Neck Surgery, Chang-Gung Memorial Hospital, Linkou Branch, College of Medicine, Chang-Gung University, Taoyuan, Taiwan.
Department of Otolaryngology, National Taiwan University Hospital, Taipei, Taiwan; Graduate Institute of Medical Genomics and Proteomics, National Taiwan University College of Medicine, Taipei, Taiwan.
PLoS One. 2015 Sep 23;10(9):e0138575. doi: 10.1371/journal.pone.0138575. eCollection 2015.
To investigate speech and language outcomes in children with cochlear implants (CIs) who had mutations in common deafness genes and to compare their performances with those without mutations.
Prospective study.
Patients who received CIs before 18 years of age and had used CIs for more than 3 years were enrolled in this study. All patients underwent mutation screening of three common deafness genes: GJB2, SLC26A4 and the mitochondrial 12S rRNA gene. The outcomes with CIs were assessed at post-implant years 3 and 5 using the Categories of Auditory Performance (CAP) scale, Speech Intelligibility Rating (SIR) scale, speech perception tests and language skill tests.
Forty-eight patients were found to have confirmative mutations in GJB2 or SLC26A4, and 123 without detected mutations were ascertained for comparison. Among children who received CIs before 3.5 years of age, patients with GJB2 or SLC26A4 mutations showed significantly higher CAP/SIR scores than those without mutations at post-implant year 3 (p = 0.001 for CAP; p = 0.004 for SIR) and year 5 (p = 0.035 for CAP; p = 0.038 for SIR). By contrast, among children who received CIs after age 3.5, no significant differences were noted in post-implant outcomes between patients with and without mutations (all p > 0.05).
GJB2 and SLC26A4 mutations are associated with good post-implant outcomes. However, their effects on CI outcomes may be modulated by the age at implantation: the association between mutations and CI outcomes is observed in young recipients who received CIs before age 3.5 years but not in older recipients.
研究携带常见耳聋基因突变的人工耳蜗植入（CI）儿童的言语和语言转归，并将其表现与未携带突变的儿童进行比较。
前瞻性研究。
纳入18岁之前接受CI且使用CI超过3年的患者。所有患者均接受了三种常见耳聋基因的突变筛查：GJB2、SLC26A4和线粒体12S rRNA基因。使用听觉表现分类（CAP）量表、言语清晰度评分（SIR）量表、言语感知测试和语言技能测试在植入后第3年和第5年评估CI的转归。
发现48例患者在GJB2或SLC26A4中有确诊突变，确定123例未检测到突变的患者用于比较。在3.5岁之前接受CI的儿童中，携带GJB2或SLC26A4突变的患者在植入后第3年（CAP：p = 0.001；SIR：p = 0.004）和第5年（CAP：p = 0.035；SIR：p = 0.038）的CAP/SIR评分显著高于未携带突变的患者。相比之下，在3.5岁之后接受CI的儿童中，携带和未携带突变的患者在植入后转归方面未观察到显著差异（所有p>0.05）。
GJB2和SLC26A4突变与植入后良好的转归相关。然而，它们对CI转归的影响可能受植入年龄的调节：在3.5岁之前接受CI的年轻接受者中观察到突变与CI转归之间的关联，而在年龄较大的接受者中未观察到。
