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独特的面部特征可区分不同种族人群中的胎儿酒精综合征患者与对照组。

Unique facial features distinguish fetal alcohol syndrome patients and controls in diverse ethnic populations.

作者信息

Moore Elizabeth S, Ward Richard E, Wetherill Leah Flury, Rogers Jeffrey L, Autti-Rämö Ilona, Fagerlund Ase, Jacobson Sandra W, Robinson Luther K, Hoyme H Eugene, Mattson Sarah N, Foroud Tatiana

机构信息

St. Vincent Hospital, Indianapolis, Indiana, USA.

出版信息

Alcohol Clin Exp Res. 2007 Oct;31(10):1707-13. doi: 10.1111/j.1530-0277.2007.00472.x.

Abstract

BACKGROUND

Effective management of fetal alcohol spectrum disorders (FASD) is dependent on the timely and reliable diagnosis of affected individuals. There are significant diagnostic difficulties because of the reduced prominence of facial features as children age to adulthood as well as potential population or ethnic differences in the most characteristic alcohol-related facial features.

METHODS

A total of 276 subjects were recruited from 4 sites (Cape Town, South Africa; Helsinki, Finland; Buffalo, New York; and San Diego, California) and completed a detailed dysmorphology evaluation to classify subjects as either fetal alcohol syndrome (FAS; 43%) or control (57%). Computerized anthropometry was employed to identify facial features that could distinguish FAS patients from controls across a wide age range and across ethnically disparate study populations.

RESULTS

Subjects were placed into 1 of 4 populations based on their ancestry (Cape Coloured, Finnish Caucasian, African American, or North American Caucasian). Analyses performed in each of the 4 study populations were able to identify a unique set of variables which provided excellent discrimination between the 2 groups (FAS, control). In each study group, at least one ocular-related measurement, shortened palpebral fissure, reduced outer canthal width, or reduced inner canthal width, was included in the final classification model.

CONCLUSIONS

We found measurements that reflected reduced size of the eye orbit to be a consistent feature discriminating FAS and controls across each study population. However, each population had a unique, though often overlapping, set of variables which discriminated the 2 groups, suggesting important ethnic differences in the presentation of FAS. It is possible that these differences were accentuated by the wide age distribution of the study subjects.

摘要

背景

胎儿酒精谱系障碍(FASD)的有效管理依赖于对受影响个体的及时且可靠的诊断。由于随着儿童成长至成年,面部特征的突出程度降低,以及在最具特征性的与酒精相关的面部特征方面存在潜在的人群或种族差异,因此存在显著的诊断困难。

方法

从4个地点(南非开普敦;芬兰赫尔辛基;纽约布法罗;加利福尼亚圣地亚哥)招募了总共276名受试者,并完成了详细的畸形学评估,以将受试者分类为胎儿酒精综合征(FAS;43%)或对照组(57%)。采用计算机人体测量法来识别能够在广泛的年龄范围以及不同种族的研究人群中区分FAS患者与对照组的面部特征。

结果

根据受试者的血统(开普混血、芬兰白种人、非裔美国人或北美白种人)将其分为4个人群之一。在4个研究人群中的每一个进行的分析都能够识别出一组独特的变量,这些变量在两组(FAS、对照组)之间提供了出色的区分能力。在每个研究组中,最终分类模型都包括至少一项与眼睛相关的测量值,即睑裂缩短、外眦宽度减小或内眦宽度减小。

结论

我们发现反映眼眶尺寸减小的测量值是区分每个研究人群中FAS和对照组的一个一致特征。然而,每个人群都有一组独特的、尽管常常重叠的变量来区分这两组,这表明FAS的表现存在重要的种族差异。这些差异可能因研究对象广泛的年龄分布而更加突出。

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