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.
K E Y W O R D Sautism, autism spectrum disorder, case control study, epidemiology, newborn screening 1 | BACKGROUND In 2012, the prevalence of autism spectrum disorder (ASD) among 8-year old children within the United States was 1 in 68, or roughly 1.5%. Estimates suggest that ASD appears to have increased over Abbreviations: 95% CI, 95% confidence interval; aOR, adjusted odds ratio; ASD, autism spectrum disorder; CAH, 17-hydroxyprogesterone; CHS, Center for Health Statistics; CO, free carnitine; CO/(C16 + C18), free carnitine (hexadecanoylcarnitine +octadecanoylcarnitine); C18, octadecanoylcarnitine; C5, isovalerylcarnitine; C8, octanoylcarnitine; C4DC, methylmalonylcarnitineC6DCadipylcarnitine; DSHS, Department of