Astley Susan J
Department of Epidemiology, School of Public Health and Community Medicine, University of Washington, Seattle, WA, USA.
Pediatrics. 2006 Oct;118(4):1532-45. doi: 10.1542/peds.2006-0577.
The 4-Digit Diagnostic Code for fetal alcohol spectrum disorders and the Hoyme fetal alcohol spectrum disorders diagnostic guidelines differ markedly. The performances of the 2 diagnostic systems were compared.
The fetal alcohol syndrome diagnostic criteria from the 4-Digit Code and Hoyme guidelines were applied to 952 patients who had received an interdisciplinary, fetal alcohol spectrum disorders, diagnostic evaluation at the University of Washington with the 4-Digit Diagnostic Code and 16 children with confirmed absence of prenatal alcohol exposure.
The prevalence of fetal alcohol syndrome was 3.7% with the 4-Digit Code and 4.1% with the Hoyme guidelines. Although the prevalences were similar, the patients identified were not. Only 17 individuals met the fetal alcohol syndrome criteria for both systems. An extraordinary number of patients (35%) met the Hoyme criteria for the fetal alcohol syndrome facial phenotype, but only 39 of those 330 patients met the Hoyme criteria for fetal alcohol syndrome. Even some children with no alcohol exposure (25%) had the Hoyme fetal alcohol syndrome face. The specificities of the Hoyme fetal alcohol syndrome face for the Hoyme fetal alcohol syndrome diagnosis and prenatal alcohol exposure were low in these populations.
Without a specific facial phenotype, a valid diagnosis of fetal alcohol syndrome cannot be rendered for patients with prenatal alcohol exposure, because a causal link between their outcomes and exposure cannot be established, and a valid diagnosis of fetal alcohol syndrome cannot be rendered for patients with unknown alcohol exposure, because the face cannot serve as a valid proxy measure for alcohol exposure. Diagnostic guidelines must confirm the specificity of their fetal alcohol syndrome facial criteria to validate their diagnostic criteria.
胎儿酒精谱系障碍的4位数字诊断编码与霍伊姆胎儿酒精谱系障碍诊断指南存在显著差异。对这两种诊断系统的性能进行了比较。
将4位数字编码和霍伊姆指南中的胎儿酒精综合征诊断标准应用于952例在华盛顿大学接受过跨学科胎儿酒精谱系障碍诊断评估的患者，这些患者使用了4位数字诊断编码，另外还有16名确诊无产前酒精暴露的儿童。
根据4位数字编码，胎儿酒精综合征的患病率为3.7%，根据霍伊姆指南为4.1%。虽然患病率相似，但所识别的患者并不相同。只有17人同时符合两种系统的胎儿酒精综合征标准。有相当数量的患者（35%）符合霍伊姆胎儿酒精综合征面部表型标准，但在这330名患者中只有39人符合霍伊姆胎儿酒精综合征标准。甚至一些无酒精暴露的儿童（25%）也有霍伊姆胎儿酒精综合征面容。在这些人群中，霍伊姆胎儿酒精综合征面容对于霍伊姆胎儿酒精综合征诊断和产前酒精暴露的特异性较低。
对于有产前酒精暴露的患者，如果没有特定的面部表型，就无法做出胎儿酒精综合征的有效诊断，因为无法确定其结局与暴露之间的因果联系；对于酒精暴露情况不明的患者，也无法做出胎儿酒精综合征的有效诊断，因为面容不能作为酒精暴露的有效替代指标。诊断指南必须确认其胎儿酒精综合征面部标准的特异性，以验证其诊断标准。
