Purpose: Down syndrome (DS), or trisomia 21, is one of the most common autosomal mutations, with mental impairment as the constant symptom. Proton magnetic resonance spectroscopy (1HMRS) allows evaluation of this metabolism in DS children. The study objective was the morphological evaluation of the brain in magnetic resonance imaging (MRI) and assessment of the metabolic profile obtained by HMRS in children with DS.
Material And Methods: The study involved 34 children, including 14 with DS, aged 7-17 years. All of them were patients of the Department of Pediatric Neurology and Rehabilitation, Medical University of Białystok, and of its Outpatient Clinic. Age-matched healthy children (n = 20) served as control. MRI scans of the head were performed in DS children using a 1.5T MR scanner in standard conditions, in three planes (saggital, axial and coronal), in T1, T2, PD and FLAIR series. HMRS investigations were also conducted to assess metabolic changes in the frontal lobes. Such metabolites as Glx, NAA, Cho, ml and GABA were determined in both temporal lobes with reference to the internal marker Cr. Results were compared to the control group.
Results: The MRI revealed no structural changes in children with DS. We found a decrease in Glx/Cr, NAA/Cr, Cho/Cr and ml/Cr ratios in our DS patients as compared to the control group. The differences for the first two markers were statistically significant. However, no differences were found between GABA/Cr ratio in the two frontal lobes in patients with DS as compared to the control group.
Conclusions: Our findings seem to confirm the abnormal metabolism of stimulatory amino acids with developmental disorders and "precocious brain aging" in children with DS.
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