One-carbon pathway and cognitive skills in children with Down syndrome

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 correl...

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Bibliographic Details
Published in:Scientific reports 2021-02, Vol.11 (1), p.4225-4225, Article 4225
Main Authors: Antonaros, Francesca, Lanfranchi, Silvia, Locatelli, Chiara, Martelli, Anna, Olivucci, Giulia, Cicchini, Elena, Carosi Diatricch, Ludovica, Mannini, Elisa, Vione, Beatrice, Feliciello, Agnese, Ramacieri, Giuseppe, Onnivello, Sara, Vianello, Renzo, Vitale, Lorenza, Pelleri, Maria Chiara, Strippoli, Pierluigi, Cocchi, Guido, Pulina, Francesca, Piovesan, Allison, Caracausi, Maria
Format: Article
Language:English
Subjects:
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Children
Cognition & reasoning
Cognitive ability
Creatinine
Down syndrome
Down's syndrome
Folic acid
Genotypes
Homocysteine
Humanities and Social Sciences
Metabolites
Methylenetetrahydrofolate reductase
multidisciplinary
Science
Science (multidisciplinary)
Statistical analysis
Uric acid
Vitamin B12
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Summary: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 
ISSN:2045-2322
2045-2322
DOI:10.1038/s41598-021-83379-7