A practical clinical approach to diagnosis of fetal alcohol spectrum disorders: Clarification of the 1996 Institute of Medicine Criteria

A practical clinical approach to diagnosis of fetal alcohol spectrum disorders: Clarification of the 1996 Institute of Medicine Criteria
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DOI:
10.1542/peds.2004-0259
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发表时间:
2005-01-01
期刊:
影响因子:
8
通讯作者:
Robinson, LK
Robinson, LK
中科院分区:
医学2区
文献类型:
--
作者:
Hoyme, HE;May, PA;Robinson, LK

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背景。酒精对发育中的人类的不利影响表现为一系列结构异常以及行为和神经认知障碍,最准确地称为胎儿酒精谱系障碍(FASD)。 1968 年和 1973 年,现代医学文献首次描述了与母亲酗酒相关的一种明显可识别的畸形模式。从那时起,在制定定义和诊断这种疾病的具体标准方面取得了实质性进展。现在最广泛使用两套诊断标准来评估可能诊断为 FASD 连续体的儿童,即 1996 年医学研究所 (IOM) 标准和华盛顿标准。尽管这两种方法都改善了 FASD 的临床描述,但在儿科实践中的实际应用中都存在显着的缺点。 目的。本报告的目的是对 1996 年 IOM 的 FASD 诊断标准进行具体说明,以促进其在临床儿科实践中的实际应用。 方法。通过积极的病例查明方法,在美国的 6 个美洲原住民社区和南非西开普省的 1 个社区中发现了一大批在产前接触过酒精的儿童。这些儿童及其家人接受了标准化的多学科评估,包括畸形检查、发育和神经心理学测试以及结构化的母亲访谈,收集有关产前饮酒习惯和其他人口和家庭信息的数据。对这些受试者的数据进行了分析,并根据结果制定了现有 IOM FASD 诊断类别的修订和澄清。结果。修订后的 IOM 方法准确、完整地定义了我们研究中儿童的残疾范围。在此经验的基础上,我们提出了胎儿酒精综合征和部分胎儿酒精综合征的具体诊断标准。我们还从实践的角度定义了与酒精相关的出生缺陷和与酒精相关的神经发育障碍。结论。 1996 年 IOM 标准仍然是针对产前接触酒精的儿童最合适的诊断方法。这里提出的拟议修订使这些标准适用于临床儿科实践。
Background. The adverse effects of alcohol on the developing human represent a spectrum of structural anomalies and behavioral and neurocognitive disabilities, most accurately termed fetal alcohol spectrum disorders (FASD). The first descriptions in the modern medical literature of a distinctly recognizable pattern of malformations associated with maternal alcohol abuse were reported in 1968 and 1973. Since that time, substantial progress has been made in developing specific criteria for defining and diagnosing this condition. Two sets of diagnostic criteria are now used most widely for evaluation of children with potential diagnoses in the FASD continuum, ie, the 1996 Institute of Medicine (IOM) criteria and the Washington criteria. Although both approaches have improved the clinical delineation of FASD, both suffer from significant drawbacks in their practical application in pediatric practice.Objective. The purpose of this report is to present specific clarifications of the 1996 IOM criteria for the diagnosis of FASD, to facilitate their practical application in clinical pediatric practice.Methods. A large cohort of children who were prenatally exposed to alcohol were identified, through active case-ascertainment methods, in 6 Native American communities in the United States and 1 community in the Western Cape Province of South Africa. The children and their families underwent standardized multidisciplinary evaluations, including a dysmorphology examination, developmental and neuropsychologic testing, and a structured maternal interview, which gathered data about prenatal drinking practices and other demographic and family information. Data for these subjects were analyzed, and revisions and clarifications of the existing IOM FASD diagnostic categories were formulated on the basis of the results.Results. The revised IOM method defined accurately and completely the spectrum of disabilities among the children in our study. On the basis of this experience, we propose specific diagnostic criteria for fetal alcohol syndrome and partial fetal alcohol syndrome. We also define alcohol-related birth defects and alcohol-related neurodevelopmental disorder from a practical standpoint.Conclusions. The 1996 IOM criteria remain the most appropriate diagnostic approach for children prenatally exposed to alcohol. The proposed revisions presented here make these criteria applicable in clinical pediatric practice.