Autism (or autism spectrum disorder [ASD]) is an often disabling childhood neurologic condition of mostly unknown cause. We previously explored whether there was an association of ASD with any analyte measured in the first newborn screening blood test. Here we explore the second screen. Our matched case–control study examined data on 3–5 year‐old patients with any ASD diagnosis in the Texas Medicaid system in 2010–2012. Subjects were linked to their 2007–2009 newborn screening blood test data, which included values for 36 analytes or analyte ratios. Data were available for 3,005 cases and 6,212 controls. The most compelling associations were evident for fatty acid oxidation analytes octanoylcarnitine (C8) and octanoylcarnitine/acetylcarnitine (C8/C2). Their adjusted odds ratios comparing 10th versus first analyte deciles were between 1.42 and 1.54 in total births, term births, and males. C8 was consistent with first screen results. Adipylcarnitine (C6DC), an organic acid analyte, showed opposite results in the two screens. Several other analytes exhibiting significant associations in the first screen did not in the second. Our results provide evidence that abnormal newborn blood levels of some carnitines may be associated with risk of later ASD, possibly related to their involvement with mitochondrial function in the developing brain.

中文翻译：

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在第二次筛查中测得的新生儿筛查分析物与德克萨斯州医疗补助人群中的儿童自闭症之间的关联。

自闭症（或自闭症谱系障碍[ASD]）是一种经常导致残疾的儿童神经系统疾病，其病因大多未知。我们先前曾探讨过ASD与首次新生儿筛查血液测试中测得的任何分析物是否相关。在这里，我们探索第二个屏幕。我们的配对病例对照研究检查了2010-2012年在德克萨斯医疗补助系统中诊断为ASD的3-5岁患者的数据。受试者与他们的2007-2009年新生儿筛查血液测试数据相关联，其中包括36种分析物的值或分析物比率。有3,005个病例和6,212个对照的数据可用。对于脂肪酸氧化分析物辛酰肉碱（C8）和辛酰肉碱/乙酰肉碱（C8 / C2），最明显的关联是明显的。他们比较了第10个分析物对第一个分析物十分位数的调整后的优势比在1.42和1。总出生，足月出生和男性中54个。C8与首次筛选结果一致。有机酸分析物己二酰肉碱（C6DC）在两个筛选中显示相反的结果。在第一个筛选中显示出显着关联的其他几种分析物在第二个筛选中没有。我们的结果提供了证据，表明某些肉碱的异常新生儿血液水平可能与以后发生ASD的风险有关，这可能与它们参与发育中的脑线粒体功能有关。