Hoyme H Eugene, May Philip A, Kalberg Wendy O, Kodituwakku Piyadasa, Gossage J Phillip, Trujillo Phyllis M, Buckley David G, Miller Joseph H, Aragon Alfredo S, Khaole Nathaniel, Viljoen Denis L, Jones Kenneth Lyons, Robinson Luther K
Department of Pediatrics, Division of Medical Genetics, H-315, Stanford University School of Medicine, Stanford, CA 94305-5208, USA.
Pediatrics. 2005 Jan;115(1):39-47. doi: 10.1542/peds.2004-0259.
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.
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.
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.
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.
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.
酒精对发育中的人类产生的不良影响表现为一系列结构异常以及行为和神经认知障碍，最准确的术语是胎儿酒精谱系障碍（FASD）。1968年和1973年在现代医学文献中首次报道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重大进展。目前，有两套诊断标准在评估FASD连续体中可能患有该疾病的儿童时使用最为广泛，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进了FASD的临床描述，但在儿科实践中的实际应用中都存在重大缺陷。
本报告的目的是对1996年IOM诊断FASD的标准进行具体阐释，以促进其在儿科临床实践中的实际应用。
通过主动病例确诊方法，在美国的6个美洲原住民社区和南非西开普省的1个社区中确定了一大群产前接触酒精的儿童。这些儿童及其家庭接受了标准化的多学科评估，包括畸形学检查、发育和神经心理学测试以及结构化的母亲访谈，收集了有关产前饮酒习惯以及其他人口统计学和家庭信息的数据。对这些受试者的数据进行了分析，并根据结果对现有的IOM FASD诊断类别进行了修订和阐释。
修订后的IOM方法准确且完整地定义了我们研究中儿童的残疾谱系。基于这一经验，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。我们还从实际角度定义了酒精相关出生缺陷和酒精相关神经发育障碍。
1996年IOM标准仍然是产前接触酒精儿童最适当的诊断方法。此处提出的修订使这些标准适用于儿科临床实践。
