Longitudinal assessment of cognition and T2-hyperintensities in NF1: an 18-year study

Jonathan M. Payne*, Tania Pickering, Melanie Porter, Emily C. Oates, Navdeep Walia, Kristina Prelog, Kathryn N. North

*Corresponding author for this work

    Research output: Contribution to journalArticlepeer-review

    33 Citations (Scopus)


    The developmental course of cognitive deficits in individuals with neurofibromatosis type 1 (NF1) is unclear. The objectives of this study were to determine the natural history of cognitive function and MRI T2-hyperintesities (T2H) from childhood to adulthood and to examine whether the presence of discrete T2H in childhood can predict cognitive performance in adulthood. We present cognitive and structural neuroimaging data from 18 patients with NF1 and five sibling controls assessed prospectively across an 18-year period. Longitudinal analyses revealed a significant increase in general cognitive function in patients with NF1 over the study period. Improvements were limited to individuals with discrete T2H in childhood. Patients without lesions in childhood exhibited a stable profile. The number of T2H decreased over time, particularly discrete lesions. Lesions located within the cerebral hemispheres and deep white matter were primarily stable, whereas those located in the basal ganglia, thalamus and brainstem tended to resolve. Our results support the hypothesis that resolution of T2H is accompanied by an improvement in general cognitive performance, possibly as a result of increased efficiency within white matter tracts.

    Original languageEnglish
    Pages (from-to)661-665
    Number of pages5
    JournalAmerican Journal of Medical Genetics. Part A
    Issue number3
    Publication statusPublished - Mar 2014


    • neurofibromatosis type 1
    • longitudinal studies
    • magnetic resonance imaging
    • cognition


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