Published online Dec 9, 2023. doi: 10.5409/wjcp.v12.i5.310
Peer-review started: July 17, 2023
First decision: August 31, 2023
Revised: September 18, 2023
Accepted: September 28, 2023
Article in press: September 28, 2023
Published online: December 9, 2023
Down syndrome (DS) is the most prevalent chromosomal disorder in humans and one of the leading causes of intellectual disability. Magnetic resonance (MR) spectroscopy (MRS) is an analytical technique used to quantify metabolites. Proton MRS (1 H-MRS) is widely employed to characterize brain neurochemical changes associated with health and disease. N-acetyl aspartic acid (NAA) is a derivative of aspartic acid primarily synthesized and stored in neurons. Therefore, it is a marker for neuronal density and viability.
Establishing a connection between the brain's metabolic profiles and intelligence quotient (IQ) in children with DS could provide insights into the underlying reasons for this relationship and aid in developing strategies to improve their IQ.
We aimed to evaluate the brain's metabolic profile using MRS in children with DS, comparing it with that of normal controls and examining the correlation between this metabolic profile and IQ.
The study was a case-control study that included sixty children with DS and forty healthy controls. IQ was assessed using Stanford-Binet Intelligence Scales, Fifth Edition. A conventional MR imaging scan followed by point-resolved spectroscopy was performed for all the participants.
Children with DS showed significant reductions in NAA/creatine (Cr) and myoinositol (MI)/Cr and a non-significant reduction in choline (Cho)/Cr in frontal lobes compared to controls. Additionally, we observed significant decreases in NAA/Cr, MI/Cr, and Cho/Cr in the temporal and occipital lobes and basal ganglia in children with DS compared to controls. Furthermore, there was a significant correlation between IQ and metabolic ratios in the brains of children with DS.
Brain metabolic profile could be a good predictor of IQ in children with DS.
To generalize our results, the authors must include a larger sample size and perform a multicentre study. We also need to include another group with low IQ for different reasons to investigate the unique features of brain metabolic profiles in children with DS.