Department of Pediatrics, North Dakota Fetal Alcohol Syndrome Center, University of North Dakota School of Medicine and Health Sciences, Grand Forks, ND 58203, USA.
Alcohol. 2010 Nov-Dec;44(7-8):605-14. doi: 10.1016/j.alcohol.2009.08.010. Epub 2010 Jan 6.
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.
胎儿酒精谱系障碍（FASD）是发育障碍、出生缺陷和死亡的常见原因。目前用于 FASD 的诊断工具的性能特征没有得到充分报告。本研究检查了胎儿酒精综合征诊断检查表（FASDC）的性能特征。在北达科他州的 658 名受试者中，我们使用 FASDC 评分检查了 FASDC 评分与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，该诊所由该州资助，为北达科他州的居民提供遗传诊断服务。我们比较了临床诊断和 FASDC 评分，以确定 FASDC 在胎儿酒精谱系（FAS）、其他-FASD 和无 FASD 组的分类诊断中的性能特征。使用有无酒精暴露或 FASDC 表型数据的单变量和逻辑模型比较了结果。FASDC 区分 FAS 组与非 FASD 的性能特征非常出色（准确率为 99%，敏感性为 99%，特异性为 99%）。使用表型和暴露数据的逻辑模型可将分数在 FASD 范围内的受试者区分开来，准确率为 82%，敏感性为 85%，特异性为 80%。使用 FASDC 的其他描述性数据（产妇特征、出生记录和人口统计数据），我们能够将分数在无 FASD 范围内的受试者划分出来，准确率为 78%，敏感性为 64%，特异性为 81%，而无需包括暴露和表型数据。在将所有诊断工具用于临床环境之前，都应评估和提供其性能特征。FASDC 评分可产生接近专家临床判断的诊断分组。该工具可能在其他临床环境中用于 FASD 的诊断，或用作 FASD 登记处或研究数据库。
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