Autism Research Centre, Department of Psychiatry, University of Cambridge, Cambridge, UK.
Department of Clinical Psychological Science, Faculty of Psychology and Neuroscience, Maastricht University, Maastricht, The Netherlands.
Mol Autism. 2021 Jul 8;12(1):51. doi: 10.1186/s13229-021-00453-7.
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.
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.
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).
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.
Maternal steroid factors during pregnancy are associated with autistic traits in mothers and their infants.
几项临床和流行病学研究表明，产前性激素与自闭症有关。目前尚不清楚这与母亲的自闭症特征有何关系，以及在怀孕和产后发育过程中何时能最早检测到这种关系。
在首次超声检查前或检查时采集孕妇（n=122）的血清。通过免疫测定法测量以下物质的浓度：睾酮、雌二醇、硫酸脱氢表雄酮、孕酮；以及性激素结合球蛋白，用于计算雌二醇（FEI）和睾酮（FTI）的游离分数。从与相同血清样本对应的临床记录中获取标准化人绒毛膜促性腺激素（hCG）和妊娠相关血浆蛋白 A（PAPP-A）值。当婴儿在 18 至 20 个月大时，母亲完成自闭症谱系商数（AQ）问卷，婴儿完成自闭症幼儿检查表（Q-CHAT）。
在单变量（n=108，皮尔逊 r=0.22，p=0.019）和多元回归模型（偏部分 r=0.19，p=0.048）中，FEI 与母亲的自闭症特征呈正相关，这些模型控制了母亲的年龄和多囊卵巢综合征（PCOS）的诊断。母亲的雌二醇水平与胎儿性别显著相互作用，预测婴儿 Q-CHAT 评分，在男性中呈正相关，而在女性中则无此相关性（n=100，交互项：偏部分 r=0.23，p=0.036），控制了母亲的 AQ 和其他协变量后。标准化 hCG 值与 Q-CHAT 评分的关系则相反，在女性中呈正相关，而在男性中则无此相关性（n=151，交互项：r=-0.25，p=0.005）。
该队列的样本量较小，由于选择性招募，可能存在确定偏差。在多元回归模型中控制了临床协变量，但需要进一步的研究来确认在更大的队列中具有统计学意义的发现。
妊娠期间母体类固醇因素与母亲及其婴儿的自闭症特征有关。
