Front Genet:只需少许唾液,即可快速筛查自闭症

2018-11-14 小通 生物通

近年来,自闭症儿童逐渐引起全社会的关注。实践证明,行为疗法可以改善自闭症的症状,而且干预越早收益越大。然而,自闭症的诊断相当困难,由于传统的检测方法存在假阳性,故评估需要一年左右的时间。


近年来,自闭症儿童逐渐引起全社会的关注。实践证明,行为疗法可以改善自闭症的症状,而且干预越早收益越大。然而,自闭症的诊断相当困难,由于传统的检测方法存在假阳性,故评估需要一年左右的时间。

一项最新发表在《Frontiers in Genetics》上的研究表明,基于唾液的检测板(panel)能够改善早期阶段的自闭症儿童诊断。研究人员证明,一组32种小RNA的检测能够将自闭症儿童与发育迟缓儿童区分开,准确率为85%。

第一作者、宾夕法尼亚州立大学医学院的Steven Hicks指出:“越来越多的证据表明,自闭症是由儿童的基因和环境之间的相互作用引起的。尽管患有自闭症的儿童具有不同的遗传背景,但我们发现唾液中的一组RNA分子可准确地将他们与未患病的的同龄人区分开来。”

如今,对自闭症儿童的筛查通常需要父母填写一份名为MCHAT-R的调查问卷。MCHAT-R评分为阳性的儿童需要转诊后进行诊断评估。然而,由于MCHAT-R的假阳性结果较多,自闭症评估的等待时间往往超过一年。

这项多中心的研究包含456名年龄在19-83个月的儿童。这些儿童要么神经发育正常(n=134),要么被诊断出自闭症(n=238),要么存在非自闭症发育迟缓(n=84)。研究人员利用新一代测序来测定所有参与者唾液中的人类和微生物RNA丰度。在分析之前,他们将样本随机分为训练组和验证组。训练组用于算法的开发,而验证组用于验证算法的准确性。

训练组包括372名儿童,平均年龄在51个月,其中51%患有自闭症。通过这些样本的分析,研究人员发现一组32种RNA特征可确定自闭症的状态。经过验证组(84名儿童,平均年龄在50个月,其中60%患有自闭症)的验证,他们发现这种检测能够区分自闭症和非自闭症患者,准确性达到85%。

研究人员认为,这种基于唾液的多组学RNA测定代表了一种新颖的非侵入性方法,可准确判断儿童是否患有自闭症。这种技术可以提高转诊自闭症评估的特异性,或者为自闭症诊断提供客观支持。

原始出处:

Steven D. Hicks,et al.Validation of a Salivary RNA Test for Childhood Autism Spectrum Disorder.Frontiers in Genetics.2018https://www.frontiersin.org/articles/10.3389/fgene.2018.00534

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    2019-01-15 canlab
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    2019-02-26 cy0324
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    2018-11-16 xiongke014
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    2018-11-14 天地飞扬

    了解一下,谢谢分享!

    0