Synopsis

Source of validity: Scientific
Rating (out of 5): 2

Vitamin B9, particularly in its active form as methylfolate (L-methylfolate), has been studied in the context of Down syndrome due to the known association of this condition with altered folate metabolism and increased frequency of hyperhomocysteinemia. Children with Down syndrome often have genetic variations that affect folate utilization, including overexpression of genes involved in folate and homocysteine metabolism due to trisomy 21. This has led to hypotheses that folate supplementation might improve neurodevelopmental outcomes or mitigate some biochemical imbalances in individuals with Down syndrome.

However, the current scientific evidence supporting the therapeutic use of methylfolate in Down syndrome is limited and mostly preliminary. Some small studies and case series have investigated folate supplementation (including methylfolate and folinic acid) for cognitive or behavioral improvement, but results have been inconclusive or have shown only modest benefits, if any. A 2012 Cochrane review found insufficient evidence to recommend folate supplementation for cognitive improvement in children with Down syndrome. More recent research continues to explore the potential metabolic effects of folate in this population, but robust clinical trial data demonstrating clear clinical benefit are lacking.

In summary, while the rationale for methylfolate supplementation in Down syndrome is grounded in scientific observations about folate metabolism, there is currently only limited evidence supporting its routine use, and therefore it cannot be broadly recommended without further research.

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