Williams综合征患儿鼓室图特征的病例对照研究  

Tympanogram characteristics in children with Williams syndrome: A case-control study

作　　者：李芳芳 姚丹[1] 沈季阳 陈维军[1] 季钗[1] LI Fangfang;YAO Dan;SHEN Jiyang;CHEN Weijun;JI Chai(Department of Pediatric Health Care,Children's Hospital of Zhejiang University School of Medicine,Hangzhou 310003,China)

机构地区：[1]浙江大学医学院附属儿童医院儿童保健科,国家儿童健康与疾病临床医学研究中心,杭州310003

出　　处：《中国循证儿科杂志》2024年第2期104-108,共5页Chinese Journal of Evidence Based Pediatrics

摘　　要：背景Williams综合征(WS)常见的临床表型包括:特殊面容、心血管疾病、结缔组织异常、生长发育迟缓、精神发育迟滞等,常伴有听力损失,既往关于WS患儿鼓室图的报道罕见、样本量少,且均为国外报道。目的 分析中国WS患儿的鼓室图特点,为听力随访提供临床依据。设计病例对照研究。方法 纳入2019年6月至2023年6月在浙江大学医学院附属儿童医院(我院)儿童保健科由2名WS随访医生随访的、行鼓室图检测的连续患儿为WS(基因诊断或Lowery评分临床诊断)组。对照组为与WS组同期的、由我院儿童保健科2名WS随访医生进行体检的连续健康儿童。采用丹麦国际听力Titan设备的鼓室图模块在本底噪声水平<30 dB SPL的标准隔声室中进行测试,测试员为同一名听力学本科毕业后在临床工作5年以上的听力师。以首次鼓室图进行分析,A型图和As型图判断为阴性结果,B和C型图判断为阳性结果。主要结局指标WS患儿鼓室图特征。结果 WS组83例165耳,男50例(60.2%),女33例;年龄1.0~7.8(4.3±1.8)岁。对照组99例198耳,男64例(64.6%),女35例,年龄0.6~11.8(4.0±2.2)岁。异常耳数占比WS组(48/165,29.1%)高于对照组(25/198,12.6%),差异有统计学意义,其中~5岁亚组和≥6岁亚组WS患儿和对照组异常耳数差异均有统计学意义。WS组中~5岁亚组(30/84,35.7%)和≥6岁亚组(11/32,34.4%)较<3岁亚组(7/49,14.3%)鼓室图阳性率差异有统计学意义,对照组中不同年龄亚组鼓室图阳性率差异均无统计学意义。WS组中不同年龄亚组鼓室图分型构成比差异无统计学意义。对照组不同年龄亚组A型图和As型图构成比差异有统计学意义。耳道容积和鼓室图梯度WS组均大于对照组,差异均有统计学意义,声顺和峰压WS组较对照组差异无统计学意义。WS组中~5岁亚组和≥6岁亚组峰压明显小于<3岁亚组,差异均有统计学意义。20例(40耳)WS患儿进行了复筛,21耳前后测试�Background The clinical phenotypes of Williams syndrome(WS)include special facial features,cardiovascular diseases,connective tissue abnormalities,growth retardation,mental retardation,often accompanied with hearing loss.Previous reports on tympanogram in children with WS are rare and the sample size is small,and none was reported in China.Objective To analyze the tympanogram characteristics of children with WS,and to provide clinical evidence for the follow-up of hearing in these children.Design Case-control study.Methods We included consecutive children followed by two WS follow-up physicians at the Department of Pediatric Health care of the Children's Hospital of Zhejiang University School of Medicine from June 2019 to June 2023 who underwent tympanometric testing and were diagnosed with WS by genetic testing or Lowery score.The control group consisted of healthy children undergoing physical examinations by the same two follow-up physicians at the same department during the same period.Tympanometry was performed using the Titan tympanometry module from Interacoustics in a standard soundproof room with background noise levels<30 dB SPL.The examiner was an audiologist with over 5 years of clinical experience after obtaining an undergraduate degree in audiology.The first tympanogram was analyzed,with type A and type As tympanograms considered negative results,and type B and type C tympanograms considered positive results.Main outcome measures Tympanogram characteristics in children with WS.Results The WS group included 83 cases(165 ears),with 50 males(60.2%)and 33 females,aged 1.0 to 7.8 years(4.3±1.8 years).The control group included 99 cases(198 ears),with 64 males(64.6%)and 35 females,aged 0.6 to 11.8 years(4.0±2.2 years).The proportion of abnormal ears was higher in the WS group(48/165,29.1%)than that in the control group(25/198,12.6%),with a statistically significant difference.The differences in the number of abnormal ears between the WS and control groups were significant in both the-5 years and≥6 year

关 键 词：WILLIAMS综合征 儿童 鼓室图 

分 类 号：R725.9[医药卫生—儿科]