ArticleScientific reports2021
One-carbon pathway and cognitive skills in children with Down syndrome.
Article in Scientific reports, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 20 citations in OpenAlex.
- Efficacy of vitamin/mineral supplement on children with Down syndrome and autism spectrum disorder.International journal of developmental disabilities · 2026Article
- Pediatric hyperuricemia: genetic basis, metabolic mechanisms, and clinical implications.Frontiers in endocrinology · 2026Review
- Role of cystathionine-β-synthase and hydrogen sulfide in down syndrome.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2025Review
- Relationship between methylenetetrahydrofolate reductase C677T gene polymorphism and neutrophil gelatinase-associated lipocalin in early renal injury in H-type hypertension.BMC cardiovascular disorders · 2024Article
- Article
- Down Syndrome: how to communicate the diagnosis.Italian journal of pediatrics · 2023Review
- Biochemical Discrimination of the Down Syndrome-Related Metabolic and Oxidative/Nitrosative Stress Alterations from the Physiologic Age-Related Changes through the Targeted Metabolomic Analysis of Serum.Antioxidants (Basel, Switzerland) · 2022Article
- A reassessment of Jackson's checklist and identification of two Down syndrome sub-phenotypes.Scientific reports · 2022Article
- One-carbon pathway metabolites are altered in the plasma of subjects with Down syndrome: Relation to chromosomal dosage.Frontiers in medicine · 2022Article
- Association between Inflammatory Conditions and Alzheimer's Disease Age of Onset in Down Syndrome.Journal of clinical medicine · 2021Article
- Is the Age of Developmental Milestones a Predictor for Future Development in Down Syndrome?Brain sciences · 2021Article
- Structural Characterization of the Highly Restricted Down Syndrome Critical Region on 21q22.13: NewFrontiers in genetics · 2021Article
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Authors and funding
20 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
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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