Vesseur Annemarie, Free Rolien, Langereis Margreet, Snels Chantal, Snik Ad, Ravenswaaij-Arts Conny van, Mylanus Emmanuel
*Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen†Department of Otorhinolaryngology‡Department of Genetics, University Medical Center Groningen, University of Groningen, The Netherlands.
Otol Neurotol. 2016 Oct;37(9):1275-83. doi: 10.1097/MAO.0000000000001177.
Identifying aspects for establishing cochlear implantation guidelines for patients with ocular coloboma, heart defects, atresia of the choanae, retardation (of growth and/or of development), genital anomalies, and ear anomalies (CHARGE) syndrome (CS).
Explorative retrospective study.
Cochlear implant (CI)-centers of tertiary referral centers in The Netherlands.
Ten patients with CS who received a CI between 2002 and 2012.
Describing the challenges and benefits of cochlear implantation in CS.
Imaging and surgical findings, language development, and Quality-of-life (QoL), compared with two control groups: 1) 34 non-syndromic CI-users and 2) 13 patients with CS without CI because of sufficient hearing.
Subjective and objective audiometry and magnetic resonance imaging were necessary to confirm the presence of the cochlear nerve. Surgery in CS was challenging because of enlarged emissary veins, semi-circular-canal aplasia, aberrant facial nerve, and dysplastic cochlear windows, making computed tomography indispensable in surgical preparations. No major intraoperative complications occurred. Despite additional handicaps, all patients showed auditory benefit and improvement in disease-specific QoL. Patients implanted at a relatively young age (≤37 months) followed by a long period of CI-use (>5 years) and with minor additional problems, developed spoken language at a basic level comparable to that of the control group of CS patients.
A CI should be considered in all patients with CS and severe sensorineural hearing loss. A careful work-up is required, comprising computed tomography, magnetic resonance imaging, objective, and subjective audiometry and assessment by a specialized multidisciplinary team. Cochlear implantation in CS might be complicated by syndrome-related temporal-bone anatomy, and the outcome of the CI is more individually determined. Early implantation should be aimed for.
确定为患有眼裂、心脏缺陷、后鼻孔闭锁、发育迟缓（生长和/或发育）、生殖器）、生殖器异常和耳部异常（CHARGE）综合征（CS）的患者制定人工耳蜗植入指南的相关方面。
探索性回顾性研究。
荷兰三级转诊中心的人工耳蜗植入（CI）中心。
2002年至2012年间接受人工耳蜗植入的10例CS患者。
描述CS患者人工耳蜗植入的挑战和益处。
与两个对照组相比，影像学和手术结果、语言发育及生活质量（QoL）：1）34名非综合征性人工耳蜗使用者；2）13名因听力足够而未接受人工耳蜗植入的CS患者。
主观和客观听力测定以及磁共振成像对于确认蜗神经的存在是必要的。由于导静脉增粗、半规管发育不全、面神经走行异常和耳蜗窗发育不良，CS患者的手术具有挑战性，这使得计算机断层扫描在手术准备中不可或缺。未发生重大术中并发症。尽管存在其他障碍，但所有患者均显示出听觉获益和疾病特异性生活质量的改善。在相对年轻时（≤37个月）接受植入、随后长期使用人工耳蜗（>5年）且附加问题较少的患者，其口语发展达到了与CS患者对照组相当的基本水平。
所有CS且重度感音神经性听力损失的患者均应考虑人工耳蜗植入。需要进行仔细的检查，包括计算机断层扫描、磁共振成像、客观和主观听力测定以及由专业多学科团队进行评估。CS患者的人工耳蜗植入可能因与综合征相关的颞骨解剖结构而变得复杂，人工耳蜗植入效果更具个体差异性。应争取早期植入。
