Diagnosis of fetal alcohol spectrum disorders: a validity study of the fetal alcohol syndrome checklist
Diagnosis of fetal alcohol spectrum disorders: a validity study of the fetal alcohol syndrome checklist
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DOI：
10.1016/j.alcohol.2009.08.010
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发表时间：
2010-11-01
期刊：
影响因子：
2.3
通讯作者：
Martsolf, John T.
中科院分区：
文献类型：
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作者：
Burd, Larry;Klug, Marilyn G.;Martsolf, John T.
胎儿酒精谱系障碍(FASD)是导致发育障碍、出生缺陷和死亡的常见原因。目前FASD诊断工具的性能特征没有得到充分的报道。本研究考察了胎儿酒精综合征诊断检查表(FASDC)的表现特征。在来自北达科他州的658名受试者中，我们使用FASDC评分来检查FASDC评分、临床诊断和医学研究所FASD标准之间的一致性。所有受试者都在遗传/畸形诊所接受评估，这些诊所由州政府资助，为北达科他州的居民提供基因诊断服务。我们比较临床诊断和FASDC评分，以确定FASDC在胎儿酒精谱(Fas)、其他FASD和非FASD组的分类诊断中的表现特点。使用有无酒精暴露或FASDC表型数据，使用单变量和Logistic模型对结果进行比较。FASDC在区分FASD组和非FASD组的表现特征非常出色(准确性、敏感性和特异性分别为99%、99%和99%)。使用表型和暴露数据对FASD评分范围内的受试者的Logistic模型进行区分，准确率为82%，敏感度为85%，特异度为80%。我们能够通过使用FASDC的其他描述性数据(母亲特征、出生记录和人口统计数据)在不包括暴露和表型数据的情况下，以78%的准确率、的敏感度和81%的特异度来描述非FASD范围内的受试者。在临床使用之前，所有诊断工具都应经过性能特性评估并可用。FASDC评分产生接近专家临床判断的诊断分组。该工具可能在诊断FASD的其他临床环境中有用，或者作为FASD登记或研究数据库。(C)2010 Elsevier Inc.保留所有权利。
Fetal alcohol spectrum disorders (FASD) are a common cause of developmental disability, birth defects, and mortality. The performance characteristics of current diagnostic tools for FASD are not adequately reported. This study examines the performance characteristics of the Fetal Alcohol Syndrome Diagnostic Checklist (FASDC). In a population of 658 subjects from North Dakota, we used the FASDC score to examine the agreement between FASDC score, clinical diagnosis, and the Institute of Medicine criteria for FASD. All subjects were seen for evaluation in the genetic/dysmorphology clinics, which are funded by the state to provide genetic diagnostic services for residents of North Dakota. We compared the clinical diagnosis and the FASDC scores to determine the performance characteristics of the FASDC in the categorical diagnosis of fetal alcohol spectrum (FAS), other-FASD, and a group with No-FASD. Comparisons were made using univariate and logistic models of outcomes using both the presence and the absence of alcohol exposure or FASDC phenotype data The FASDC performance characteristics for differentiation of the FAS group from non-FASD were excellent (accuracy 99%, sensitivity 99%, and specificity 99%). Logistic models for subjects with scores in the FASD range were differentiated with an accuracy of 82%, sensitivity 85%, and specificity 80% using the data on phenotype and exposure. We were able to delineate subjects with scores in the No-FASD range with an accuracy of 78%, sensitivity 64%, and specificity 81% without including the exposure and phenotype data by use of the other descriptive data (maternal characteristics, birth records, and demographic data) from the FASDC. All diagnostic tools should have performance characteristics assessed and available before adoption for use in clinical settings. The FASDC scores produce diagnostic groupings that approximate expert clinical judgment. The tool may be useful in other clinical settings for the diagnosis of FASD or as an FASD registry or research database. (c) 2010 Elsevier Inc. All rights reserved.