用简化的六项标准筛查脆性X综合征  

A Simplified Six-item Checklist for Screening of Fragile X Syndrome

作　　者：郭异珍[1] 柴精华[1] 姚丹 张苏萍 黄尚志[1] 赵时敏[1] 

机构地区：[1]中国医学科学院

出　　处：《中国医学科学院学报》2000年第1期85-87,共3页Acta Academiae Medicinae Sinicae

基　　金：卫生部科学基金! ( 96-1-0 5 2 )

摘　　要：目的　为简化筛查标准 ,提高对脆性 X综合征筛查的阳性率 ,研究用简化的六项标准筛查此病。方法　采用九条标准 :智力低下、智力低下家族史、长脸、大 (或突出 )耳朵、注意力不集中及多动、孤独行为、通贯掌、巨睾和关节过度伸展。对 2 0 8例脆性 X综合征可疑病例 (男 190例 ,女 18例 )的筛查进行回顾性分析。结果　用 PCR-southern杂交方法诊断脆性 X综合征 7例。分析通贯掌、巨睾及关节过度伸展在脆性 X综合征的筛查中出现频率低 ,相关欠密切 ,故采用以上九条标准中除此 3项以外的简化的六项标准 ,提出评分≥ 6分时 ,应进一步作实验室检查确诊 ;评分 <6分 ,6 0 %的病例可以除外脆性 X综合征 ,且不遗漏任何阳性病例。使筛查的阳性率提高到 8.8%。结论　采用简化的六项标准筛查脆性 X综合征 ,能从临床特征上除外 6 0 %的可疑病例 ,提高脆性 X综合征临床筛查的阳性率。Objective To investigate whether a simplified six item checklist could be developed to improve the screening fragile X syndrome test result. Methods Nine clinical characteristics were selected from patient records of 190 male and 18 female pediatrics for fragile X screening test were analyzed.The characteristics included mental retardation,family history of mental retardation,elongated face,large or prominent ears,attention deficit hyperactivity disorder,Autistic like behavior,simian crease,macroorchidism,and hyperextensible joints. Results Seven cases were diagnosed with fragile X syndrome by Southern analysis on PCR product.Among the nine characteristics,simian crease,macroorchidism,and hyperextensible joints were eliminated,because of low frequency and statistical insignificance.Using remaining six item clinical checklist,if a score of 6 or more was used as the criteria for screening fragile X test,about 60% of this test in our cases could have been eliminated clinically without missing any positive cases.Thereby the proportion of case with positive results improved 8 8%. Conclusions With our simplified six item clinical checklist,60% of testing could have been eliminated clinically,thereby improving the effectiveness of fragile X screening test and promoting the proportion of cases with positive results in two groups.

关 键 词：脆性X综合征 筛查 诊断标准 

分 类 号：R596.04[医药卫生—内科学]