One-carbon pathway and cognitive skills in children with Down syndrome
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 we...
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Nature Portfolio
2021
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oai:doaj.org-article:0b5d9b06befd4e4b85adbae3dd2138462021-12-02T10:54:31ZOne-carbon pathway and cognitive skills in children with Down syndrome10.1038/s41598-021-83379-72045-2322https://doaj.org/article/0b5d9b06befd4e4b85adbae3dd2138462021-02-01T00:00:00Zhttps://doi.org/10.1038/s41598-021-83379-7https://doaj.org/toc/2045-2322Abstract 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.Francesca AntonarosSilvia LanfranchiChiara LocatelliAnna MartelliGiulia OlivucciElena CicchiniLudovica Carosi DiatricchElisa ManniniBeatrice VioneAgnese FelicielloGiuseppe RamacieriSara OnnivelloRenzo VianelloLorenza VitaleMaria Chiara PelleriPierluigi StrippoliGuido CocchiFrancesca PulinaAllison PiovesanMaria CaracausiNature PortfolioarticleMedicineRScienceQENScientific Reports, Vol 11, Iss 1, Pp 1-13 (2021) |
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Medicine R Science Q Francesca Antonaros Silvia Lanfranchi Chiara Locatelli Anna Martelli Giulia Olivucci Elena Cicchini Ludovica Carosi Diatricch Elisa Mannini Beatrice Vione Agnese Feliciello Giuseppe Ramacieri Sara Onnivello Renzo Vianello Lorenza Vitale Maria Chiara Pelleri Pierluigi Strippoli Guido Cocchi Francesca Pulina Allison Piovesan Maria Caracausi One-carbon pathway and cognitive skills in children with Down syndrome |
| description |
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. |
| format |
article |
| author |
Francesca Antonaros Silvia Lanfranchi Chiara Locatelli Anna Martelli Giulia Olivucci Elena Cicchini Ludovica Carosi Diatricch Elisa Mannini Beatrice Vione Agnese Feliciello Giuseppe Ramacieri Sara Onnivello Renzo Vianello Lorenza Vitale Maria Chiara Pelleri Pierluigi Strippoli Guido Cocchi Francesca Pulina Allison Piovesan Maria Caracausi |
| author_facet |
Francesca Antonaros Silvia Lanfranchi Chiara Locatelli Anna Martelli Giulia Olivucci Elena Cicchini Ludovica Carosi Diatricch Elisa Mannini Beatrice Vione Agnese Feliciello Giuseppe Ramacieri Sara Onnivello Renzo Vianello Lorenza Vitale Maria Chiara Pelleri Pierluigi Strippoli Guido Cocchi Francesca Pulina Allison Piovesan Maria Caracausi |
| author_sort |
Francesca Antonaros |
| title |
One-carbon pathway and cognitive skills in children with Down syndrome |
| title_short |
One-carbon pathway and cognitive skills in children with Down syndrome |
| title_full |
One-carbon pathway and cognitive skills in children with Down syndrome |
| title_fullStr |
One-carbon pathway and cognitive skills in children with Down syndrome |
| title_full_unstemmed |
One-carbon pathway and cognitive skills in children with Down syndrome |
| title_sort |
one-carbon pathway and cognitive skills in children with down syndrome |
| publisher |
Nature Portfolio |
| publishDate |
2021 |
| url |
https://doaj.org/article/0b5d9b06befd4e4b85adbae3dd213846 |
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