患有FASD儿童的二次身体特征
Miguel Del Campo1, Julie A Kable2, Claire D Coles2
1Division of Dysmorphology and Teratology, Department of Pediatrics, University of California San Diego (UCSD), La Jolla, CA, 92093, USA.
European journal of medical genetics
|December 2, 2023
概括
与酒精有关的神经发育障碍 (ARND) 的儿童中,二次身体特征并不比较常见,但表明认知功能较低. 这些特征不支持在患有产前酒精暴露 (PAE) 的儿童中诊断ARND.
科学领域:
- 儿科医学 儿科医学 儿科医学
- 神经发育障碍 神经发育障碍
- 遗传学和遗传性 遗传学和遗传性
背景情况:
- 胎儿酒精谱系障碍 (FASD) 包括通过产前酒精暴露 (PAE),生长缺陷以及特定的身体和神经行为障碍来诊断的疾病.
- 胎儿酒精综合征 (FAS) 和部分FAS (pFAS) 的诊断依赖于三个主要的面部特征,尽管经常观察到其他异形特征.
- 与酒精有关的神经发育障碍 (ARND) 儿童中二次身体特征的存在和诊断实用性仍在调查中.
研究的目的:
- 与对照组相比,调查诊断为ARND的儿童中二次身体特征的频率.
- 评估二次身体特征的组合,通过异形状学评分量化,是否可以识别PAE相关影响但没有FAS/pFAS诊断的个体.
- 探索PAE影响的儿童的异形学分数和认知能力之间的相关性.
主要方法:
- 这项研究分析了1726名儿童的数据,这些儿童被分为FAS,pFAS,ARND和没有FASD组 (有或没有PAE史).
- 26个次要异形特征的频率在各组之间进行了比较,分别和组合成加权和未加权的异形学分数.
- 在每个组中,检查了总性质障碍评分和认知能力指数之间的相关性.
主要成果:
- 与没有FASD的儿童相比,FAS的儿童有几种次要特征更频繁,但与ARND相比并没有显著差异.
- FAS组的异形性得分高于所有其他组,但ARND组的得分与没有FASD组没有区别.
- 在ARND组中,较高的异形学分数与较低的一般认知能力相关,这表明身体特征和神经行为障碍严重程度之间存在联系.
结论:
- 与没有FASD诊断的儿童相比,ARND的儿童没有发现二次身体特征更频繁.
- 然而,这些特征的存在与ARND儿童的认知功能下降有关.
- 该研究得出的结论是,仅仅二次身体特征不足以支持这一队列中的ARND诊断.
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