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Abstract
This work investigates the role of metabolite levels in the intellectual impairment of subjects with Down syndrome (DS). Homocysteine, folate, vitamin B12, uric acid (UA), creatinine levels and MTHFR C677T genotype were analyzed in 147 subjects with DS. For 77 subjects, metabolite levels were correlated with cognitive tests. Griffiths-III test was administered to 28 subjects (3.08–6.16 years) and WPPSI-III test was administered to 49 subjects (7.08–16.08 years). Significant correlations were found among some metabolite levels and between homocysteine levels and MTHFR C677T genotype. Moreover, homocysteine, UA and creatinine levels resulted increased with age. We did not find any correlation between metabolites and cognitive test score in the younger group. Homocysteine showed statistically significant correlation with WPPSI-III subtest scores when its level is ≥ 7.35 µmol/L, remaining correlated in higher thresholds only for non-verbal area scores. Vitamin B12 showed correlations with all WPPSI-III subtest scores when its level is < 442 pg/mL. The relevance of the present findings is the detection of a specific metabolite threshold related with a better or worse cognitive score, suggesting that vitamin B12 and homocysteine may have a role in cognitive development in children with DS.
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1 University of Bologna, Department of Experimental, Diagnostic and Specialty Medicine, (DIMES), Unit of Histology, Embryology and Applied Biology, Bologna, Italy (GRID:grid.6292.f) (ISNI:0000 0004 1757 1758)
2 University of Padova, Department of Developmental Psychology and Socialisation, Padua, Italy (GRID:grid.5608.b) (ISNI:0000 0004 1757 3470)
3 St. Orsola-Malpighi Polyclinic, Neonatology Unit, Bologna, Italy (GRID:grid.5608.b)
4 St. Orsola-Malpighi Polyclinic, University of Bologna, Neonatology Unit, Department of Medical and Surgical Sciences (DIMEC), Bologna, Italy (GRID:grid.6292.f) (ISNI:0000 0004 1757 1758)
5 St. Orsola-Malpighi Polyclinic, University of Bologna, Medical Genetics Unit, Department of Medical and Surgical Sciences (DIMEC), Bologna, Italy (GRID:grid.6292.f) (ISNI:0000 0004 1757 1758)