CHARGE综合征与听力相关分析

摘要

目的：探讨CHARGE综合征的临床特点、听力学特征及人工耳蜗植入疗效。方法通过对我科收治的CHARGE综合征的患儿临床资料收集，结合相关文献分析其临床特征及耳部解剖特点、听力学特点，探讨其人工耳蜗植入的价值及要点。结果两例患儿临床上诊断CHARGE综合征基本明确，均有不同程度的耳部畸形及听力障碍，病例一因其他一些严重的功能障碍于生后5个月时死亡；病例二经过后期的充分及时的治疗，恢复良好，随访听力1年，言语发育良好。结论CHARGE综合征的诊断基于临床表现，对于合并重度耳聋的患儿，在全身状况允许的情况下进行人工耳蜗植入是听力康复的最佳选择。%Objective To investigate clinical and audiological features of CHARGE syndrome and effica-cy of cochlear implant. Methods Clinical data of 2 children with CHARGE syndrome seen in our department, including clinical and audiological features, were analyzed in reference to relevant literatures. The value of co-chlear implant as treatment and related key points were discussed. Results Both children showed varying de-grees of ear malformations and hearing disorders. One child died five months after birth from unrelated seri-ous conditions, while the other recovered well after full and timely treatment, with good speech development in the following year. Conclusion Diagnosis of CHARGE syndrome is primarily based on clinical manifesta-tions. Cochlear implants is the best option for patients with severe sensorineural hearing loss.