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Maternal steroid levels and the autistic traits of the mother and infant.

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Aydin, E 
Padaigaitė, E 
Richards, G 
Allison, C 


BACKGROUND: Prenatal sex steroids have been associated with autism in several clinical and epidemiological studies. It is unclear how this relates to the autistic traits of the mother and how early this can be detected during pregnancy and postnatal development. METHODS: Maternal serum was collected from pregnant women (n = 122) before or during their first ultrasound appointment [mean = 12.7 (SD = 0.7) weeks]. Concentrations of the following were measured via immunoassays: testosterone, estradiol, dehydroepiandrosterone sulphate, progesterone; and sex hormone-binding globulin which was used to compute the free fractions of estradiol (FEI) and testosterone (FTI). Standardised human choriogonadotropin (hCG) and pregnancy-associated plasma protein A (PAPP-A) values were obtained from clinical records corresponding to the same serum samples. Mothers completed the Autism Spectrum Quotient (AQ) and for their infants, the Quantitative Checklist for Autism in Toddlers (Q-CHAT) when the infants were between 18 and 20 months old. RESULTS: FEI was positively associated with maternal autistic traits in univariate (n = 108, Pearson's r = 0.22, p = 0.019) and multiple regression models (semipartial r = 0.19, p = 0.048) controlling for maternal age and a diagnosis of PCOS. Maternal estradiol levels significantly interacted with fetal sex in predicting infant Q-CHAT scores, with a positive relationship in males but not females (n = 100, interaction term: semipartial r = 0.23, p = 0.036) after controlling for maternal AQ and other covariates. The opposite was found for standardised hCG values and Q-CHAT scores, with a positive association in females but not in males (n = 151, interaction term: r = -0.25, p = 0.005). LIMITATIONS: Sample size of this cohort was small, with potential ascertainment bias given elective recruitment. Clinical covariates were controlled in multiple regression models, but additional research is needed to confirm the statistically significant findings in larger cohorts. CONCLUSION: Maternal steroid factors during pregnancy are associated with autistic traits in mothers and their infants.



Autism, Autistic Traits, Estradiol, Interaction, Pregnancy, Prenatal, Sex, Autistic Disorder, Estradiol, Female, Humans, Infant, Male, Mothers, Pregnancy, Steroids, Testosterone

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Mol Autism

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Springer Science and Business Media LLC


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Autism Research Trust (42814)
Autism Research Trust (Unknown)
Department of Health (via National Institute for Health Research (NIHR)) (202423)
Wellcome Trust (214322/Z/18/Z)
This particular research was funded in part by the Wellcome Trust (grant number RNAG/528, block code: 214322\Z\18\Z). Additional funds were provided by the Autism Research Trust (ART, registered charity number: 1136737, UK) via purpose-specific grants (RNAG/425) for the conducting of clinical studies relating to early autism biomarkers. For the purpose of Open Access, the authors have applied a CC BY public copyright licence to any Author Accepted Manuscript version arising from this submission. AT (first, corresponding author) is further funded by the Peterhouse Graduate Studentship. SBC (last, corresponding author) is funded by the Autism Research Trust, the Templeton World Charitable Foundation, and the NIHR Biomedical Research Centre in Cambridge, during the period of this work. SBC also receives funding from the Innovative Medicines Initiative 2 Joint Undertaking (JU) under grant agreement No 777394. The JU receives support from the European Union’s Horizon 2020 research and innovation programme and EFPIA and AUTISM SPEAKS, Autistica, SFARI. His research is also supported by the National Institute of Health Research (NIHR), Applied Research Collaboration East of England (ARC EoE) programme.
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