Autism (or autism spectrum disorder [ASD]) is an often disabling childhood neurologic condition of mostly unknown cause. It is commonly diagnosed at 3 or 4 years of age. We explored whether there was an association of any analytes measured by newborn screening tests with a later diagnosis of ASD. A database was compiled of 3-5 year-old patients with any ASD diagnosis in the Texas Medicaid system in 2010-2012. Two controls (without any ASD diagnosis) were matched to each case by infant sex and birth year/month. All study subjects were linked to their 2007-2009 birth and newborn screening laboratory records, including values for 36 analytes or analyte ratios. We examined the association of analytes/ratios with a later diagnosis of ASD. Among 3,258 cases and 6,838 controls, seven analytes (e.g., 17-hydroxyprogesterone, acylcarnitines) were associated with a later ASD diagnosis. In this exploratory study, an ASD diagnosis was associated with 7 of 36 newborn screening analytes/ratios. These findings should be replicated in other population-based datasets.

中文翻译：

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德克萨斯州医疗补助人口中的新生儿筛查分析物与儿童自闭症之间的关联，2010-2012年。

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。通常被诊断为3或4岁。我们探讨了新生儿筛查测试与后来的ASD诊断是否存在任何分析物的关联。在2010-2012年间，对得克萨斯州医疗补助系统中任何ASD诊断的3-5岁患者的数据库进行了汇编。根据婴儿性别和出生年/月，将两个对照（无任何ASD诊断）与每个病例相匹配。所有研究对象均与其2007-2009年出生和新生儿筛查实验室记录相关联，包括36种分析物的值或分析物比率。我们检查了分析物/比率与后来的ASD诊断的关联。在3258例病例和6838例对照中，有7种分析物（例如17-羟基孕酮，酰基肉碱）与后来的ASD诊断有关。在这项探索性研究中，ASD诊断与36种新生儿筛查分析物/比率中的7种有关。这些发现应复制到其他基于人群的数据集中。