Abstract：
Trisomy 18 is a common chromosomal aberration syndrome, characterized by variable clinical manifestations, including cardiovascular, pulmonary, genitourinary, and musculoskeletal findings, leading to a shorter survival and severe developmental delay in survivors. However, recently, intensive therapeutic intervention has allowed for prolonging survival. In terms of otological complications, only a limited number of relevant reports have been published. To demonstrate the characteristic of hearing loss (HL) in children with Trisomy 18, we retrospectively evaluated 22 patients (44 ears) by comprehensive auditory evaluation with the auditory steady-state response (ASSR) test and temporal bone computed tomography (CT). ASSR revealed that 20 patients (91%) had bilateral moderate to profound HL, more frequent and severe than that in Trisomy 21; among 42 ears having HL, 12 ears (29%) had conductive HL, and 26 ears (62%) had mixed HL. CT scans of 38 ears revealed that 34 ears (89%) had an external and middle ear malformation. Hearing aids (HA) were fitted in 17 patients (air and bone-conduction HAs). The threshold hearing with HA was improved in all of them. Accurate otological evaluation using ASSR and CT and intervention by HAs could be a feasible choice for children with Trisomy 18.
摘要：
18三体是一种常见的染色体畸变综合征,以可变的临床表现为特征，包括心血管,肺,泌尿生殖系统,和肌肉骨骼的发现，导致幸存者的生存期缩短和严重的发育迟缓。然而,最近,强化治疗干预可以延长生存期.就耳科并发症而言，只发表了数量有限的相关报告。为了证明18三体症儿童的听力损失（HL）的特征，我们通过听觉稳态反应（ASSR）测试和颞骨计算机断层扫描（CT）进行了全面的听觉评估，对22例患者（44耳）进行了回顾性评估。ASSR显示20例患者（91%）患有双侧中度至深度HL，比21三体更频繁和严重；在42只患有HL的耳朵中，12只耳朵（29％）具有导电性HL，26耳（62%）有混合HL。38只耳朵的CT扫描显示，有34只耳朵（89％）患有外耳和中耳畸形。17名患者（空气和骨传导HA）安装了助听器（HA）。所有HA的阈值听力均得到改善。使用ASSR和CT进行准确的耳科评估以及HAs的干预可能是18三体症儿童的可行选择。
