Fan Wenyan, Ni Kun, Chen Fang, Li Xiaoyan
Department of Otolaryngology, Shanghai Children's Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.
Transl Pediatr. 2022 Jul;11(7):1234-1241. doi: 10.21037/tp-22-271.
Waardenburg syndrome (WS) has high clinical and genetic heterogeneity. We aimed to investigate the clinical characteristics of children with WS, and to analyze the effect of cochlear implantation in children with WS who had severe sensorineural hearing loss.
The clinical characteristics of children with WS diagnosed and treated in the past 5 years in the Department of Otolaryngology, Shanghai Children's Hospital were retrospectively analyzed. The 5 WS cases, including 2 males and 3 females, had bilateral severe sensorineural hearing loss. Cochlear implantation was performed between 8 and 21 months old. Audiology tests were conducted, including otoacoustic emissions (OAEs), auditory brainstem response (ABR), and multiple auditory steady-state evoked responses (ASSR). Preoperative computerized tomography (CT) and magnetic resonance imaging (MRI) were performed to evaluate the development of the inner ear and brain. All WS cases were evaluated for hearing and speech abilities before cochlear implantation and at 1 month, 6 months, 12 months, and 24 months after implantation.
Among the 5 cases, 3 were WS1, 1 was WS2, and 1 was WS4. All 5 cases received cochlear implantation, and postoperative CT showed that the implant position was good. The infant toddler meaningful auditory integration scale (IT-MAIS) and meaningful use of speech scale (MUSS) scores of all cases increased with hearing age, and IT-MAIS scores were lower than those of normal hearing children of the same age.
Children with WS usually have hearing loss. In WS cases with severe sensorineural hearing loss, early cochlear implantation can achieve better hearing and speech development.
瓦登伯革氏综合征（WS）具有高度的临床和遗传异质性。我们旨在研究WS患儿的临床特征，并分析人工耳蜗植入对患有严重感音神经性听力损失的WS患儿的效果。
回顾性分析上海儿童医学中心耳鼻咽喉科在过去5年中诊断和治疗的WS患儿的临床特征。这5例WS患儿，包括2例男性和3例女性，均患有双侧严重感音神经性听力损失。在8至21个月大时进行了人工耳蜗植入。进行了听力测试，包括耳声发射（OAE）、听性脑干反应（ABR）和多频稳态听觉诱发电位（ASSR）。术前进行了计算机断层扫描（CT）和磁共振成像（MRI）以评估内耳和脑部的发育情况。所有WS患儿在人工耳蜗植入前以及植入后1个月、6个月、12个月和24个月均进行了听力和言语能力评估。
5例患儿中，3例为WS1型，1例为WS2型，1例为WS4型。所有5例均接受了人工耳蜗植入，术后CT显示植入位置良好。所有病例的婴幼儿有意义听觉整合量表（IT-MAIS）和言语有意义使用量表（MUSS）得分均随听力年龄增加，且IT-MAIS得分低于同龄正常听力儿童。
WS患儿通常存在听力损失。在患有严重感音神经性听力损失的WS病例中，早期人工耳蜗植入可实现更好的听力和言语发育。
