Brain Development Measured With MRI in Children With Down Syndrome Correlates With Blood Biochemical Biomarkers

Pediatr Neurol. 2019 Mar:92:43-47. doi: 10.1016/j.pediatrneurol.2018.10.007. Epub 2018 Oct 16.


Background: Down syndrome (DS) is a neurodegenerative disease with unknown mechanisms. β-Amyloid peptide (Aβ) and tau protein (Tau) are known to play a role, while vitamin A (VA) has an effect on normal neurological function. In a case-control study, we quantitatively evaluated whole brain and hippocampal volumes of DS children and analyzed the correlation of hippocampal volumes with blood levels of Aβ, Tau and VA.

Methods: All subjects underwent magnetic resonance imaging (MRI) of the brain. The whole brain and hippocampal volumes were quantitatively analyzed using voxel-based morphometry (VBM) and stereology respectively. The blood levels of Aβ, Tau, and VA were detected by enzyme-linked immunosorbent assay and high-performance liquid chromatography, respectively.

Results: Thirty DS children and twenty healthy controls were recruited. Whole brain and hippocampal volumes were significantly smaller in individuals with DS than in healthy controls. In both groups, whole brain and hippocampal volumes increased in accordance with age. The results of correlation analysis suggested that Aβ42/Aβ40 and VA are associated with hippocampal volume in DS patients.

Conclusion: DS children exhibited neurodevelopmental defects, even at an early age. Aβ42/Aβ40 and VA may affect hippocampal volume in DS patients.

Keywords: Down syndrome; Neurodegenerative disease; Vitamin A; β-amyloid peptide.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Amyloid beta-Peptides / blood*
  • Biomarkers / blood
  • Brain* / diagnostic imaging
  • Brain* / growth & development
  • Brain* / pathology
  • Case-Control Studies
  • Child
  • Child, Preschool
  • Down Syndrome* / blood
  • Down Syndrome* / diagnostic imaging
  • Down Syndrome* / pathology
  • Female
  • Hippocampus* / diagnostic imaging
  • Hippocampus* / growth & development
  • Hippocampus* / pathology
  • Humans
  • Infant
  • Magnetic Resonance Imaging
  • Male
  • Vitamin A / blood*
  • tau Proteins / blood*


  • Amyloid beta-Peptides
  • Biomarkers
  • tau Proteins
  • Vitamin A