用简化的六项标准筛查脆性X综合征

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（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２０８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杂交诊断脆性Ｘ综合征７例。分别通贯掌、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

A simplified six-item checklist for screening of fragile X syndrome

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.