Prader-Willi综合征的临床筛查和基因诊断

目的 探讨临床疑似Prader-Willi综合征（PWS）患儿的临床筛查、基因诊断及确诊病例临床诊断评分结果的差异。方法 选取2016年7月至2018年12月收治的临床疑似PWS患儿94例为研究对象，应用甲基化特异性多重连接依赖性探针扩增（MS-MLPA）技术进行检测，对确诊患儿采用临床诊断评分进行评估，并分析确诊患儿的围生期特征。结果 MS-MLPA技术确诊PWS患儿11例，检出率为12%；其中男7例，女4例；中位确诊年龄3岁4个月（范围：25 d至6岁8个月）。11例PWS患儿中仅5例（45%）满足临床诊断标准。PWS患儿围生期主要特征有胎动减少9例（82%）、剖宫产11例（100%）、新生儿期肌张力低下11例（100%）、喂养困难11例（100%）及哭声低下11例（100%）。结论 对临床疑似的PWS患儿应及早进行基因检测确诊，单纯依靠临床诊断评分可能导致PWS漏诊。

Clinical screening and genetic diagnosis for Prader-Willi syndrome

Objective To study the clinical screening and genetic diagnosis of children suspected of Prader-Willi syndrome (PWS), as well as the differences in the scores of clinical diagnostic criteria among the children with a confirmed diagnosis of PWS. Methods A total of 94 children suspected of PWS who were admitted from July 2016 to December 2018 were enrolled as subjects. Methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) was performed to confirm the diagnosis. For the children with a confirmed diagnosis of PWS, the scores of clinical diagnostic criteria were determined, and the perinatal characteristics were analyzed. Results A total of 11 children with PWS were confirmed by MS-MLPA, with a detection rate of 12%, among whom there were 7 boys and 4 girls, with a median age of 3 years and 4 months (range 25 days to 6 years and 8 months) at the time of confirmed diagnosis. Among the 11 children with PWS, only 5 children (45%) met the criteria for clinical diagnosis. The main perinatal characteristics of the children with PWS were decreased fetal movement (9 cases, 82%), cesarean section birth (11 cases, 100%), hypotonia (11 cases, 100%), feeding difficulties (11 cases, 100%), and weak crying (11 cases, 100%). Conclusions Gene testing should be performed as early as possible for children suspected of PWS by clinical screening. PWS may be missed if only based on the scores of clinical diagnostic criteria.