Janek Kevin C, Smith David F, Kline Antonie D, Benke James R, Chen Mei-Ling, Kimball Amy, Ishman Stacey L
College of Medicine, University of Cincinnati, Cincinnati, OH, USA.
Division of Pediatric Otolaryngology - Head and Neck Surgery, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.
Int J Pediatr Otorhinolaryngol. 2016 Aug;87:203-7. doi: 10.1016/j.ijporl.2016.06.032. Epub 2016 Jun 13.
Patients with Cornelia de Lange Syndrome (CdLS) are reported to have conductive (CHL) and sensorineural hearing loss (SNHL), but there is little information pertaining to the progression of hearing loss over time. The goal of this study was to examine the prevalence of CHL and SNHL in adults and children with CdLS and look for changes in SNHL over time.
Retrospective chart review of patients with CdLS presenting to a CdLS clinic was conducted. Also, a written survey of clinical concerns was collected from additional patients/families seen in the clinic and through the Cornelia de Lange Foundation.
Seventy-eight patients (50% female) were included in the chart review. Mean age was 16.8 ± 11.4 years (range-0.6-50 years) and mean age at diagnosis of hearing loss was 4.6 ± 10.6 years (n = 26). Five patients (6.4%) had severe to profound SNHL that improved with time, including 2 who had complete normalization of audiogram results. Thirty-five families/patients completed the clinical survey, and 45.5% of the families reported a noticeable improvement of hearing over time.
Conductive hearing loss and SNHL are common in CdLS. More than 50% of the patients seen in an adult CdLS clinic reported improvement in hearing loss over time, and a subset of patients had an improvement in SNHL. In light of these findings, we recommend longitudinal evaluations of hearing loss in these patients with both auditory brainstem response and otoacoustic emissions testing if SNHL is identified.
据报道，患有科妮莉亚·德朗格综合征（CdLS）的患者存在传导性听力损失（CHL）和感音神经性听力损失（SNHL），但关于听力损失随时间推移的进展情况，相关信息较少。本研究的目的是调查患有CdLS的成人和儿童中CHL和SNHL的患病率，并观察SNHL随时间的变化情况。
对前往CdLS诊所就诊的患者进行回顾性病历审查。此外，还从诊所就诊的其他患者/家庭以及通过科妮莉亚·德朗格基金会收集了关于临床问题的书面调查问卷。
病历审查纳入了78名患者（50%为女性）。平均年龄为16.8±11.4岁（范围为0.6 - 50岁），听力损失诊断时的平均年龄为4.6±10.6岁（n = 26）。5名患者（6.4%）患有重度至极重度SNHL，且随时间推移有所改善，其中2名患者的听力图结果完全恢复正常。35个家庭/患者完成了临床调查，45.5%的家庭报告称随着时间推移听力有明显改善。
传导性听力损失和SNHL在CdLS中很常见。在成人CdLS诊所就诊的患者中，超过50%报告称听力损失随时间有所改善，且一部分患者的SNHL有所改善。鉴于这些发现，如果确诊为SNHL，我们建议对这些患者进行听觉脑干反应和耳声发射测试的听力损失纵向评估。
