Quantitative T1 measurement of myelin in children with Ras-MAPK pathway disorders

Motivation: Disrupted myelination in the brains of children with RAS-MAPK pathway disorders could represent a novel treatment target. Non-invasive neuroimaging is needed to identify this pathology. Goal(s): Our goal was to use quantitative T1 mapping to characterize myelination in the brains of children with RAS-MAPK disorders. Approach: We investigated quantitative indicators of myelin content in 39 white matter tracts and cortical R1 (1/T1) in 360 regions between two groups: children with RAS-MAPK disorders and typical developing (TD). Results: Results indicated widespread increases in white matter tract myelin in RAS-MAPK disorders relative to TD. There were no significant between-groups differences in cortical regions. Impact: Our demonstration of distinct patterns of myelination in RAS-MAPK pathway disorders suggests a quantitative neurobiological marker that may be of value for future work investigating brain-behavior associations or novel treatment targets in this population.