Digit ratio and autism spectrum disorders in the Avon Longitudinal Study of Parents and Children: a birth cohort study

OBJECTIVES To investigate whether second-to-fourth digit ratio (2D:4D), a measure commonly used as a proxy for fetal testosterone exposure, is associated with autism spectrum disorders (ASDs), as predicted by the extreme male brain theory of autism. DESIGN A birth cohort study. SETTING The Avon Longitudinal Study of Parents and Children (ALSPAC). PARTICIPANTS 6015 ALSPAC children with data on digit ratio, at least 1 outcome measure and information on potential confounding variables (parental occupational class, maternal education and age at digit ratio measurement). Digit ratio was measured by the photocopy and calliper method. OUTCOMES ASD diagnosis (cases were identified previously by record linkage or maternal report) and 4 measures that combine optimally within ALSPAC to predict ASD: the Children's Communication Checklist (coherence subscale), the Social and Communication Disorders Checklist, a repetitive behaviour measure, and the Emotionality, Activity and Sociability scale (sociability subscale). These measures were dichotomised, with approximately 10% defined as the 'risk' group. RESULTS Using logistic regression, we examined the association of 2D:4D with ASDs and 4 dichotomised ASD traits. Covariates were occupational class, maternal education and age at 2D:4D measurement. 2D:4D was not associated with ASDs in males (adjusted OR per 1 SD increase in mean 2D:4D, 0.88 (95% CI 0.65 to 1.21), p=0.435) or females (adjusted OR=1.36 (95% CI 0.81 to 2.28), p=0.245). Similar results were observed after adjustment for IQ. There was 1 weak association between reduced coherence and increased left 2D:4D in males, in the opposite direction to that predicted by the extreme male brain theory (adjusted OR=1.15 (95% CI 1.02 to 1.29), p=0.023). Given multiple comparisons, this is consistent with chance. CONCLUSIONS In this population-based study, there was no strong evidence of an association between 2D:4D and ASD diagnosis or traits, although the CIs were wide. These results are not consistent with the extreme male brain theory.