A Comparison Among 5 Methods for the Clinical Diagnosis of Fetal Alcohol Spectrum Disorders

A Comparison Among 5 Methods for the Clinical Diagnosis of Fetal Alcohol Spectrum Disorders
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DOI:
10.1111/acer.13032
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发表时间:
2016-05-01
影响因子:
3.2
通讯作者:
Jones, Kenneth Lyons
Jones, Kenneth Lyons
中科院分区:
医学3区
文献类型:
--
作者:
Coles, Claire D.;Gailey, Amanda R.;Jones, Kenneth Lyons

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背景尽管胎儿酒精谱系障碍(FASD)的患病率和准确识别患者的重要性,但由于FASD的异质性和不同诊断系统的特点,临床诊断可能不一致。在这里,我们比较了5个系统,旨在操作标准建议产前酒精暴露(PAE)的影响的诊断。我们确定了它们之间的一致性程度以及可能降低系统间可靠性的因素。比较的是:埃默里诊所,西雅图4位系统(胎儿酒精谱系障碍诊断指南:4位诊断代码,西雅图,华盛顿州,大学出版服务,2004年),疾病控制和预防中心(胎儿酒精综合征:转诊和诊断指南,卫生与公众服务部,疾病控制和预防中心,亚特兰大,GA,2004),加拿大指南(CMAJ,172,2005年,S1),和Hoyme修改(儿科,115,2005年,39)。提取多学科评价(儿科、社会、心理)的记录。应用所有5个系统的诊断标准,并根据每个系统对患者进行诊断。结果FASD的诊断率从4.74%(CDC)到59.58%(Hoyme)不等。使用Cohen's Kappa的检查发现系统之间存在适度的一致性,特别是当使用个体诊断,胎儿酒精综合征(FAS),部分FAS(pFAS)和酒精相关神经发育障碍(ARND)时。诊断标准的检查发现,几乎完美的协议增长(体重,身高),与有限的重叠的物理特征(睑裂,发育不良的人中,上朱砂)和神经行为的结果。儿童的种族和年龄的影响系统之间的协议,非洲裔美国人和年龄较大的儿童更频繁地diagnosed.Conclusions结果表明,这些系统之间的收敛效度问题,缺乏诊断的可靠性。由于缺乏外部标准,因此无法确定是否有任何系统更准确,但结果确实为未来可能改进诊断的研究领域提供了建议。
Background Despite the prevalence of fetal alcohol spectrum disorders (FASD) and the importance of accurate identification of patients, clinical diagnosis may not be consistent across sites due to the heterogeneous nature of FASD and the characteristics of different diagnostic systems used. Here, we compare 5 systems designed to operationalize criteria recommended for the diagnosis of effects of prenatal alcohol exposure (PAE). We determined the extent of consistency among them as well as factors that may reduce intersystem reliability. Compared are: Emory Clinic, Seattle 4-Digit System (Diagnostic Guidelines for Fetal Alcohol Spectrum Disorders: The 4-Digit Diagnostic Code, Seattle, WA, University Publication Services, 2004), Centers for Disease Control and Prevention (Fetal Alcohol Syndrome: Guidelines for Referral and Diagnosis, Department of Health and Human Services, Centers for Disease Control and Prevention, Atlanta, GA, 2004), Canadian Guidelines (CMAJ, 172, 2005, S1), and the Hoyme Modifications (Pediatrics, 115, 2005, 39).Methods Subjects were 1,581 consecutively registered patients applying for evaluation at a university-based clinic treating alcohol and drug-exposed children. Records of the multidisciplinary evaluation (pediatric, social, psychological) were abstracted. Diagnostic criteria for all 5 systems were applied, and patients were diagnosed according to each of the systems. We compared results using Cohen's Kappa to evaluate the extent of agreement.Results Percent of individuals diagnosed with FASD ranged from 4.74% (CDC) to 59.58% (Hoyme). Examination using Cohen's Kappa found modest agreement among systems, particularly when individual diagnoses, Fetal Alcohol Syndrome (FAS), partial FAS (pFAS), and Alcohol-Related Neurodevelopmental Disorder (ARND) were used. Examination of diagnostic criteria found almost perfect agreement on growth (weight; height), with limited overlap for physical features (palpebral fissures, hypoplastic philtrum, upper vermillion) and for neurobehavioral outcomes. Child's race and age influenced agreement among systems, with African American and older children more frequently diagnosed.Conclusions Results suggest problems in convergent validity among these systems, as demonstrated by a lack of reliability in diagnosis. Absence of an external standard makes it impossible to determine whether any system is more accurate, but outcomes do suggest areas for future research that may refine diagnosis.