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. 2025 May;39(5):396-406.
doi: 10.13201/j.issn.2096-7993.2025.05.002.

[Expert consensus on auditory intervention and language rehabilitation of CHARGE syndrome]

[Article in Chinese]
中国耳聋基因筛查与诊断临床多中心研究协作组  1 , 中华医学会医学遗传学分会  1
Affiliations

[Expert consensus on auditory intervention and language rehabilitation of CHARGE syndrome]

[Article in Chinese]
中国耳聋基因筛查与诊断临床多中心研究协作组 et al. Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2025 May.

Abstract
in English, Chinese

Objective:CHARGE syndrome（CS） is an autosomal dominant congenital malformation involving multiple organs and sensory systems. The incidence of hearing impairment and developmental retardation in CS patients is 87% and 84%, respectively, which is often accompanied by malformations such as abnormal development of temporal bone, venous sinus, and facial nerve that directly affect cochlear implant surgery. Other systemic malformations increase perioperative risks, such as heart defects, micrognathia, laryngeal and trachea malformations. Cochlear implants are significant in promoting hearing and language rehabilitation and improving the psychomotor development of children with CS. Still, the process and outcome assessment of cochlear implantation are challenging. The Chinese Multi-center Clinical Research Collaboration Group on Genetic Screening and Diagnosis of Deafness organized domestic otologists, experienced audiologists, and speech rehabilitation experts to form an expert consensus on the perioperative management, key points of surgical operation and postoperative rehabilitation of cochlear implantation to standardize the clinical diagnosis, treatment, and rehabilitation for CS.

目的：CHARGE综合征是一类涉及多器官和感觉系统的常染色体显性遗传性先天畸形。该综合征患者听力障碍和发育迟缓发生率分别达87%和84%，且常伴颞骨、静脉窦、面神经发育异常等直接影响人工耳蜗植入手术的局部畸形和其他增加围手术期风险的全身畸形，如心脏缺陷、小颌畸形和喉气管畸形等。人工耳蜗植入对于促进CHARGE综合征患儿听觉及语言康复、改善其精神运动发育具有重要意义，但手术及其愈后均具有挑战性。中国耳聋基因筛查与诊断临床多中心研究协作组组织国内耳科专家、经验丰富的人工耳蜗调机师、言语康复专家，就CHARGE综合征的人工耳蜗植入围手术期处理、手术操作要点及术后康复形成专家共识，以规范临床诊疗工作。.

Keywords: CHARGE syndrome; cochlear implantation; hearing and language rehabilitation.

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Conflict of interest statement

The authors of this article and the planning committee members and staff have no relevant financial relationships with commercial interests to disclose.

References

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