The association between newborn screening analytes and childhood autism in a Texas Medicaid population, 2010-2012

Am J Med Genet B Neuropsychiatr Genet. 2019 Jul;180(5):291-304. doi: 10.1002/ajmg.b.32728. Epub 2019 Apr 24.

Abstract

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.

Keywords: autism; autism spectrum disorder; case control study; epidemiology; newborn screening.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • 17-alpha-Hydroxyprogesterone / analysis
  • Autism Spectrum Disorder / diagnosis
  • Autism Spectrum Disorder / metabolism
  • Autistic Disorder / diagnosis*
  • Autistic Disorder / epidemiology
  • Autistic Disorder / metabolism*
  • Carnitine / analogs & derivatives
  • Carnitine / analysis
  • Case-Control Studies
  • Child, Preschool
  • Female
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Medicaid
  • Neonatal Screening / methods*
  • Pilot Projects
  • Texas / epidemiology
  • United States

Substances

  • acylcarnitine
  • 17-alpha-Hydroxyprogesterone
  • Carnitine