Burd Larry, Martsolf John T, Klug Marilyn G, Kerbeshian Jacob
North Dakota Fetal Alcohol Syndrome Center, Department of Pediatrics, School of Medicine and Health Sciences, University of North Dakota, 501 North Columbia Road, Grand Forks, ND 58203, USA.
Neurotoxicol Teratol. 2003 Nov-Dec;25(6):719-24. doi: 10.1016/j.ntt.2003.07.015.
Fetal alcohol syndrome (FAS) is a common cause of neuropsychiatric disorders, growth impairment and craniofacial abnormalities. The syndrome may be more common than has been previously reported. Considerable controversy exists over the approaches for diagnosis of the syndrome.
In this study, we examined the rate of agreement for two diagnostic schema using 385 subjects that had been referred for assessment of possible FAS. Cases had initially been diagnosed using the Fetal Alcohol Syndrome Diagnostic Checklist (FASDC). We then reviewed the chart of each of the 385 subjects referred and assigned each subject to a category from the Institute of Medicine (IOM) Criteria or to a NOFAS category. We then compared the IOM categories with the FASDC.
Rates of agreement with the IOM Criteria ranged from 59-71% using the FASDC. Poorest agreement was found in conjunction with partial FAS (PFAS)/alcohol-related neurodevelopmental disorder (ARND). Removal of exposure data from the scores greatly affected accuracy for the FASDC scores.
The schema had only modest rates of agreement for classification of subjects with a diagnosis of FAS. This study does not determine if the diagnosis used in the development of the cohort was accurate. Further study utilizing multiple diagnostic schema in a single population will help examine the rates of diagnostic agreement between differing diagnostic schema. A valuable cohort to study would be the subjects in the CDC surveillance system. A perspective study utilizing a single cohort and applying multiple diagnostic criteria at the same time would be useful.
胎儿酒精综合征（FAS）是神经精神障碍、生长发育迟缓及颅面部畸形的常见病因。该综合征可能比之前报道的更为常见。关于该综合征的诊断方法存在相当大的争议。
在本研究中，我们使用385名因可能患有FAS而被转诊进行评估的受试者，检验了两种诊断方案的一致性率。这些病例最初是使用胎儿酒精综合征诊断清单（FASDC）进行诊断的。然后，我们查阅了385名被转诊受试者的病历，并根据医学研究所（IOM）标准或非FAS类别将每名受试者归入相应类别。接着，我们将IOM类别与FASDC进行了比较。
使用FASDC时，与IOM标准的一致性率在59%至71%之间。在部分FAS（PFAS）/酒精相关神经发育障碍（ARND）方面，一致性最差。从评分中去除暴露数据对FASDC评分的准确性有很大影响。
对于诊断为FAS的受试者分类，这些方案的一致性率仅为中等水平。本研究并未确定该队列研究中所使用的诊断是否准确。在单一人群中使用多种诊断方案进行进一步研究，将有助于检验不同诊断方案之间的诊断一致性率。一个有价值的研究队列是疾病控制与预防中心（CDC）监测系统中的受试者。利用单一队列并同时应用多种诊断标准的前瞻性研究将是有用的。
