Diagnostic Value of Serum miR-499a-5p in Chinese Children with Autism Spectrum Disorders

J Mol Neurosci. 2025 Jan 21;75(1):8. doi: 10.1007/s12031-024-02296-2.

Abstract

The purpose of this study was to investigate the expression of miR-499a-5p in children with autism spectrum disorders (ASD) and its value in early diagnosis of ASD. This is a retrospective case-control study that included 40 children with ASD as a case group and 43 healthy children as a control group. Magnetic resonance imaging (MRI) was performed on all subjects, and the children were scored with childhood autism rating scale (CARS) and autism behavior checklist (ABC). The expression of miR-499a-5p in serum was detected by RT-qPCR, and the diagnostic value of miR-499a-5p in ASD was evaluated by ROC curve. Pearson correlation coefficient was used to evaluate the correlation between miR-499a-5p levels and scores. Compared with healthy children, the expression level of serum miR-499a-5p was significantly reduced in children with ASD. ROC curve showed that miR-499a-5p is of high diagnostic value for ASD. The results of MRI suggested that the volume of the amygdala in ASD children was significantly larger than that in healthy children, while the volume of the caudate nucleus was significantly reduced. Correlation results showed that the scores of CARS and ABC in the ASD group were significantly negatively correlated with the levels of miR-499a-5p. In the ASD group, the volume of the amygdala was negatively correlated with the level of miR-499a-5p, while the volume of the caudate nucleus was positively correlated with the level of miR-499a-5p. The decreased expression of miR-499a-5p in the serum of children with ASD was significantly related to the changes in brain volume of children with ASD, and the miRNA showed good diagnostic accuracy in children with ASD.

Keywords: Autism spectrum disorders; Diagnosis; Magnetic resonance imaging; MiR-499a-5p.

MeSH terms

  • Amygdala / diagnostic imaging
  • Autism Spectrum Disorder* / blood
  • Autism Spectrum Disorder* / diagnosis
  • Autism Spectrum Disorder* / genetics
  • Biomarkers / blood
  • Case-Control Studies
  • Child
  • Child, Preschool
  • East Asian People
  • Female
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • MicroRNAs* / blood

Substances

  • MicroRNAs
  • MIRN499 microRNA, human
  • Biomarkers