Li Haixin, Yang Yuqi, Yu Bin, Zhang Yuping
Department of Child Healthcare, Changzhou Maternal and Child Health Care Hospital, Changzhou, China.
Psychiatry Investig. 2025 Jun;22(6):678-686. doi: 10.30773/pi.2024.0293. Epub 2025 Jun 16.
This study aims to evaluate the metabolic impact of the autism spectrum disorder (ASD) at birth, while such insight may lead to increased understanding of the etiology.
We performed tandem mass spectrometry (TMS) in a large sample of dried blood spots (DBS) derived at birth from 106 autistic patients and 401 controls, to identify a metabolic signature for ASD. We also examined trait-specific metabolomic patterns within ASDs, focusing on the age, sex, and the comorbidities including the language delay (LD) and global developmental delays.
The results showed that there were no significant differences in metabolism data between ASD patients and controls. The forest plot analysis revealed distinct associations between genetic metabolic substances and autism in male and female populations. Among males, the variable C0 demonstrated a statistically significant association (odds ratio [OR]=1.05, 95% confidence interval [CI]: 1.006-1.096, p=0.024). For females, a significant association was observed with C3 (OR=2.541, 95% CI: 1.089-6.140, p=0.032). Based on their chronological ages of the first diagnosis, autistic individuals were divided in two groups: younger (n=59) or older than 3 years (n=47). The metabolism of succinic acid is increased (p<0.05), as well as carnitines C5:1.
Most analytes included in the TMS screen had no significant differences between the autism group and the control group at birth; however, sex, the age of first diagnose for ASD, and comorbidities may be the important factors affecting metabolic characteristics, as well as the genetic metabolic changes arise after birth.
本研究旨在评估自闭症谱系障碍（ASD）在出生时的代谢影响，而这种见解可能会增进对病因的理解。
我们对106名自闭症患者和401名对照者出生时采集的大量干血斑（DBS）样本进行串联质谱分析（TMS），以确定ASD的代谢特征。我们还研究了ASD患者中特定特征的代谢组学模式，重点关注年龄、性别以及包括语言发育迟缓（LD）和全面发育迟缓在内的合并症。
结果显示，ASD患者与对照者的代谢数据无显著差异。森林图分析揭示了遗传代谢物质与男性和女性人群自闭症之间的不同关联。在男性中，变量C0显示出统计学上的显著关联（优势比[OR]=1.05，95%置信区间[CI]：1.006 - 1.096，p = 0.024）。对于女性，观察到与C3有显著关联（OR = 2.541，95% CI：1.089 - 6.140，p = 0.032）。根据首次诊断时的实际年龄，自闭症个体被分为两组：年龄较小（n = 59）或3岁以上（n = 47）。琥珀酸的代谢增加（p < 0.05），肉碱C5:1也是如此。
TMS筛查中包含的大多数分析物在自闭症组和对照组出生时无显著差异；然而，性别、ASD首次诊断年龄和合并症可能是影响代谢特征的重要因素，以及出生后出现的遗传代谢变化。
