Langlois Peter H, Canfield Mark A, Rutenberg Gary W, Mandell Dorothy J, Hua Fei, Reilly Brendan, Ruktanonchai Duke J, Jackson Janice F, Hunt Patricia, Freedenberg Debra, Lee Rachel, Villanacci John F
Birth Defects Epidemiology and Surveillance Branch, Texas Department of State Health Services, Austin, Texas, USA.
Center for Analytics and Decision Support, Texas Health and Human Services Commission, Austin, Texas, USA.
Am J Med Genet B Neuropsychiatr Genet. 2020 Sep;183(6):331-340. doi: 10.1002/ajmg.b.32804. Epub 2020 Jul 13.
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.
自闭症（或自闭症谱系障碍[ASD]）是一种常导致残疾的儿童神经疾病，其病因大多不明。我们之前探讨了ASD与首次新生儿筛查血液检测中所测的任何分析物之间是否存在关联。在此我们探讨第二次筛查。我们的匹配病例对照研究分析了2010 - 2012年德州医疗补助系统中3至5岁被诊断患有任何ASD的患者的数据。研究对象与他们2007 - 2009年的新生儿筛查血液检测数据相关联，这些数据包括36种分析物或分析物比率的值。共有3005例病例和6212例对照的数据可供分析。最显著的关联出现在脂肪酸氧化分析物辛酰肉碱（C8）和辛酰肉碱/乙酰肉碱（C8/C2）上。在总出生数、足月出生数和男性中，比较第10个与第一个分析物十分位数时，它们的调整优势比在1.42至1.54之间。C8与首次筛查结果一致。己二酰肉碱（C6DC），一种有机酸分析物，在两次筛查中结果相反。在首次筛查中显示出显著关联的其他几种分析物在第二次筛查中则没有。我们的结果表明，新生儿血液中某些肉碱水平异常可能与后期患ASD的风险相关，这可能与其在发育中的大脑中参与线粒体功能有关。
