Moog Ute
Department of Clinical Genetics, University Hospital Maastricht, PO Box 5000, 6202 AZ Maastricht, The Netherlands.
Am J Med Genet A. 2005 Aug 30;137(2):228-31. doi: 10.1002/ajmg.a.30841.
In the different studies on the etiology of mental retardation (MR), a diagnosis has been reached in a remarkably variable proportion of cases. This is due to differences in methodology (population examined, age of the patients, degree of MR, time and protocol of investigation, expertise), method of classification (according to timing of defect, type of defect or both), and, in particular the different use of the term diagnosis. The latter varies with the employed criteria (causal vs. pathomorphological vs. pathophysiological), with the degree of exclusiveness (single cause vs. multifactorial/predisposing background factors) and particularly with the degree of implied certainty (definite vs. provisional). All these factors contribute to the fact that in general, the results of different clinical studies on the etiology of MR are not strictly comparable and cannot be pooled. A dynamic method of classification is proposed which combines both time of occurrence and type of defect, and includes the degree of certainty of a diagnosis. The method allows identification of patients which need follow-up and reconsideration of their cases.
在关于智力发育迟缓（MR）病因的不同研究中，已确诊病例的比例差异显著。这是由于方法学（所检查的人群、患者年龄、MR程度、调查时间和方案、专业知识）、分类方法（根据缺陷发生时间、缺陷类型或两者）的不同，尤其是“诊断”一词的不同用法。后者随所采用的标准（因果关系与病理形态学与病理生理学）、排他程度（单一原因与多因素/易患背景因素）而变化，特别是随隐含的确定性程度（明确与临时）而变化。所有这些因素导致这样一个事实，即一般来说，关于MR病因的不同临床研究结果并非严格可比，也无法汇总。提出了一种动态分类方法，该方法结合了发生时间和缺陷类型，并包括诊断的确定性程度。该方法能够识别需要随访并重新考虑其病例的患者。
