Trevisi P, Ciorba A, Aimoni C, Bovo R, Martini A
Audiology Department, Padua University Hospital, Italy;
Audiology Department, Ferrara University Hospital, Italy.
Acta Otorhinolaryngol Ital. 2016 Jun;36(3):206-14. doi: 10.14639/0392-100X-837.
The aim of this paper is to assess the long-term audiological features and outcomes of hearing rehabilitation in a large group of individuals with CHARGE Syndrome. The study has been conducted retrospectively, on a paediatric patient database, at the Audiology Department of the University Hospitals of Ferrara and Padua. The study sample included 31 children presenting with different degrees of hearing impairment associated with CHARGE syndrome. Hearing was assessed using auditory brainstem responses (ABRs) and/or electrocochleography, or conditioned audiometry (visual reinforcement audiometry [VRA] or play audiometry). Auditory-perceptual outcomes in terms of communication skills and expressive language were also recorded. The effects of hearing rehabilitation (with hearing aids or cochlear implants) in this group of children and language outcomes after rehabilitation were monitored during long-term follow-up. The outcomes of rehabilitation measures differed in relation to the heterogeneous and often severe disabilities associated with CHARGE syndrome, e.g. developmental delay, intellectual delay, visual impairment, thin 8(th) nerve with retrocochlear auditory dysfunction (as described in cases of auditory neuropathy/dyssynchrony). Oral expressive language was severely impaired in most cases, even after lengthy follow-up, suggesting the need for alternative augmentative communication modes. The early identification of sensorineural hearing loss, and carefully planned rehabilitation treatments, can be of some benefit in children with CHARGE syndrome.
本文旨在评估一大群患有CHARGE综合征的个体的长期听力学特征及听力康复效果。该研究在费拉拉大学医院和帕多瓦大学医院听力科的儿科患者数据库上进行了回顾性研究。研究样本包括31名患有与CHARGE综合征相关的不同程度听力障碍的儿童。使用听性脑干反应（ABR）和/或耳蜗电图，或条件测听法（视觉强化测听法[VRA]或游戏测听法）评估听力。还记录了沟通技巧和表达性语言方面的听觉感知结果。在长期随访期间监测了这组儿童听力康复（使用助听器或人工耳蜗）的效果以及康复后的语言结果。康复措施的效果因与CHARGE综合征相关的异质性且通常严重的残疾而有所不同，例如发育迟缓、智力迟缓、视力障碍、伴有蜗后听觉功能障碍的第8（八）对脑神经纤细（如听觉神经病/失同步病例中所述）。在大多数情况下，即使经过长时间随访，口语表达性语言仍严重受损，这表明需要替代性的辅助沟通方式。对感音神经性听力损失的早期识别以及精心规划的康复治疗，可能对患有CHARGE综合征的儿童有益。
