Canfield Mark A, Langlois Peter H, 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.
Center for Analytics and Decision Support, Texas Health and Human Services Commission, Austin, Texas.
Am J Med Genet B Neuropsychiatr Genet. 2019 Jul;180(5):291-304. doi: 10.1002/ajmg.b.32728. Epub 2019 Apr 24.
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.
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系统疾病，病因大多不明。通常在3或4岁时被诊断出来。我们探讨了新生儿筛查测试所检测的任何分析物与后来ASD诊断之间是否存在关联。编制了一个数据库，纳入2010 - 2012年德州医疗补助系统中所有3至5岁被诊断患有ASD的患者。根据婴儿性别和出生年份/月份，为每个病例匹配两名对照（无任何ASD诊断）。所有研究对象都与其2007 - 2009年的出生及新生儿筛查实验室记录相关联，包括36种分析物或分析物比率的值。我们研究了分析物/比率与后来ASD诊断之间的关联。在3258例病例和6838名对照中，七种分析物（如17 - 羟孕酮、酰基肉碱）与后来的ASD诊断相关。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种相关。这些发现应在其他基于人群的数据集中得到重复验证。
