原发性成年起病型肌张力障碍家族史资料的有效性

• 作 者: Martino D. G. Defazio 郭俊
• 机 构: Dept. of Neurol. and Psychiat. Sci., University of Bari,Piazza Giulio Cesare 11, 1-70124 Bari, Italy
• 出 处: 世界核心医学期刊文摘(神经病学分册)
• 发表日期: 2005年02期
• 关键词: 肌张力障碍 病型 家族 有效性 先证者 一级亲属 报道资料 神经病学 错误分类 神经病

Background: To our knowledge, no study has assessed thevalidity of family hist ory data provided by probandswith adultonset dystonia. Objective: To measure the sensitivity and specificity of interviewing patients with primary adult onset dystonia as a method for obtaining information on dystonia in first degree rela tives. Participants: Seventy probands with primary adult onset dystonia were as ked to identify first degree relatives who had dystonia. Available relatives we re then directly examined by a trained neurologist. The validity of the probands reports was tested against the neurologistsdiagnoses. Results: Among 300 fir st degree relatives who were examined, 26 received a diagnosis of dystonia. Onl y 7 of the 26 were identified by the probandsreports. Among the 274 relatives free of dystonia, the probands reported 5 as having dystonia. The probandsrepo rts therefore yielded a sensitivity of 27.0%and a specificity of 98.2%. Conclu sions: Because the family history method yields low sensitivity and incurs a ris k of misclassification, it is of limited use in family studies of adult onset d ystonia. The only valid means of ascertaining dystonia among relatives remains n eurological examination of at risk subjects. u001a

Background: To our knowledge, no study has assessed the validity of family hist ory data provided by probands with adultonset dystonia. Objective: To measure the sensitivity and specificity of interviewing patients with primary adult onset dystonia as a method for obtaining information on dystonia in first degree rela tives. Participants: Seventy probands with primary adult onset dystonia were as ked to identify first degree relatives who had dystonia. Available relatives we re then directly examined by a trained neurologist. The validity of the probands  reports was tested against the neurologists  diagoses. Results: Among 300 fir st degree relatives who were examined, 26 received a diagnosis of dystonia. Onl y 7 of the 26 were identified by the probands playback. Among the 274 relatives free of dystonia, the probands reported 5 as having dystonia. probands レ ポ rts therefore yielded a sensitivity of 27.0% and a specificity of 98.2%. Conclu sions: Because the family history me thod yields low sensitivity and incurs a ris k of misclassification, it is of limited use in family studies of adult onset d ystonia. The only valid means of ascertaining dystonia among relatives remains n eurological examination of at risk subjects. u001a