Southwell Katherine E, Bird Philip A, Murray Daran P
Otolaryngology Department, Christchurch Hospital, New Zealand.
Cochlear Implants Int. 2010 Sep;11(3):170-83. doi: 10.1002/cii.423.
CHARGE syndrome is a rare congenital condition that manifests with anomalies of coloboma, heart defects, choanal atresia, mental retardation, genitourinary and ear anomalies that can affect almost any part of the auditory pathway. In those patients with a significant sensorineural hearing loss, cochlear implantation has become a potential therapeutic option.
Chart review of three cases from the Southern Cochlear Implant Programme.
All patients met clinical diagnostic criteria of CHARGE syndrome, and had abnormal inner ear anatomy with profound sensorineural hearing loss. One child had previously undergone cochlear implantation which was unsuccessful due to increasing non-auditory stimulation. All patients had successful cochlear implantation with full insertion of a Nucleus Freedom Implant with contour Advance. All patients showed improvement in their audiological function; one child has high functioning verbal communication, one child uses both sign and verbal communication with improved speech quality and ability to speech read, and one child responds reliably to sound, understands short phrases and attempts to vocalize, but this is limited by tracheostomy.
Cochlear implantation faces numerous challenges in children with CHARGE syndrome, but with appropriate patient selection can result in successful audiologic and quality of life outcomes.
CHARGE综合征是一种罕见的先天性疾病，表现为眼部缺损、心脏缺陷、后鼻孔闭锁、智力障碍、泌尿生殖系统和耳部异常，几乎可影响听觉通路的任何部位。对于那些患有严重感音神经性听力损失的患者，人工耳蜗植入已成为一种潜在的治疗选择。
回顾南方人工耳蜗植入项目的三例病例。
所有患者均符合CHARGE综合征的临床诊断标准，内耳解剖结构异常，伴有严重感音神经性听力损失。一名儿童此前接受过人工耳蜗植入，但由于非听觉刺激增加而未成功。所有患者人工耳蜗植入均成功，完全植入了带有轮廓推进器的Nucleus Freedom植入体。所有患者的听力学功能均有改善；一名儿童具有高功能的言语交流能力，一名儿童使用手语和言语交流，言语质量和言语阅读能力有所提高，一名儿童对声音有可靠反应，能理解简短短语并尝试发声，但受气管造口术限制。
人工耳蜗植入在CHARGE综合征患儿中面临诸多挑战，但通过适当的患者选择可取得成功的听力学和生活质量结果。
