Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, 46202, USA.
Alcohol Clin Exp Res. 2012 Sep;36(9):1634-46. doi: 10.1111/j.1530-0277.2012.01750.x. Epub 2012 Mar 8.
The identification of individuals exposed prenatally to alcohol can be challenging, with only those having the characteristic pattern of facial features, central nervous system abnormality, and growth retardation receiving a clinical diagnosis of fetal alcohol syndrome (FAS).
Seventeen anthropometric measurements were obtained at 5 and 9 years from 125 Cape Town, South African children, studied since birth. The children were divided into 3 groups: FAS or partial FAS (PFAS), heavily exposed nonsyndromal (HE), and non-alcohol-exposed controls (C). Anthropometric measurements were evaluated for mean group differences. Logistic regression models were used to identify the subset of anthropometric measures that best predicted group membership. Anthropometric measurements were examined at the 2 ages in relation to prenatal alcohol exposure obtained prospectively from the mothers during pregnancy. Correlation of these facial measurements with key neurobehavioral outcomes including Wechsler Intelligence Scales for Children-IV IQ and eyeblink conditioning was used to assess their utility as indicators of alcohol-related central nervous system impairment.
Significant group differences were found for the majority of the anthropometric measures, with means of these measures smaller in the FAS/PFAS compared with HE or C. Upper facial widths, ear length, lower facial depth, and eye widths were consistent predictors distinguishing those exposed to alcohol from those who were not. Using longitudinal data, unique measures were identified that predicted facial anomalies at one age but not the other, suggesting the face changes as the individual matures. And 41% of the FAS/PFAS group met criteria for microtia at both ages. Three of the predictive anthropometric measures were negatively related to measures of prenatal alcohol consumption, and all were positively related to at least 1 neurobehavioral outcome.
The analysis of longitudinal data identified a common set of predictors, as well as some that are unique at each age. Prenatal alcohol exposure appears to have its primary effect on brain growth, reflected by smaller forehead widths, and may suppress neural crest migration to the branchial arches, reflected by deficits in ear length and mandibular dimensions. These results may improve diagnostic resolution and enhance our understanding of the relation between the face and the neuropsychological deficits that occur.
仅那些具有面部特征、中枢神经系统异常和生长迟缓的典型特征的个体，才能被临床诊断为胎儿酒精综合征（FAS）。因此，对于那些在产前接触过酒精的个体的识别可能具有挑战性。
自出生以来，对来自开普敦、南非的 125 名儿童在 5 岁和 9 岁时进行了 17 项人体测量，并将这些儿童分为 FAS 或部分 FAS（PFAS）、重度暴露非综合征（HE）和非酒精暴露对照组（C）。评估了组间均值的差异。采用逻辑回归模型确定了最佳预测组别的人体测量指标子集。根据母亲在怀孕期间前瞻性提供的产前酒精暴露情况，对这两个年龄的人体测量指标进行了检查。评估了这些面部测量值与关键神经行为结果（包括韦氏儿童智力量表-IV IQ 和眨眼条件反射）的相关性，以评估其作为酒精相关中枢神经系统损伤的指标的效用。
大多数人体测量指标存在显著的组间差异，FAS/PFAS 组的均值明显小于 HE 组或 C 组。上脸宽度、耳长、下脸深度和眼宽是区分接触酒精和未接触酒精个体的一致预测指标。使用纵向数据，识别出了在一个年龄预测面部异常的独特指标，但在另一个年龄不预测，这表明随着个体的成熟，面部会发生变化。并且，41%的 FAS/PFAS 组在两个年龄都符合小耳畸形的标准。三个预测性人体测量指标与产前酒精摄入量呈负相关，与至少一个神经行为结果呈正相关。
对纵向数据的分析确定了一组共同的预测指标，以及每个年龄特有的一些预测指标。产前酒精暴露似乎主要影响大脑的生长，这反映在前额宽度较小；可能抑制神经嵴向鳃弓的迁移，表现为耳长和下颌骨尺寸的缺陷。这些结果可能会提高诊断分辨率，并增强我们对面部与神经心理缺陷之间关系的理解。
