The Metabolic Signature of Autism Spectrum Disorders Using Dried Blood Spots at Birth

Abstract

Objective: 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.

Methods: 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.

Results: 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.

Conclusion: 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.

Keywords: Autism spectrum disorder; Dried blood spots; Metabolism.

Figure 1.

The vertical line (OR=1) represents the null effect; confidence intervals crossing this line are non-significant. *p<0.05. ASD, autism spectrum disorder; OR, odds ratio; CI, confidence interval.