Natural history of cognitive deficits and their relationship to MRI T2-hyperintensities in NF1

S. L. Hyman, D. S. Gill, E. A. Shores, A. Steinberg, P. Joy, S. V. Gibikote, K. N. North*

*Corresponding author for this work

    Research output: Contribution to journalArticlepeer-review

    97 Citations (Scopus)


    Background: Cognitive impairment is the most common complication of neurofibromatosis type 1 (NF1) in childhood. Current research suggests a strong relationship between cognitive deficits and brain T2-hyperintensities. The majority of these lesions disappear as the child ages. Cross-sectional data suggest that there also are improvements in intellect. Objective: To determine the natural history of cognitive functioning and MRI T2-hyperintensities from childhood into adulthood, and whether changes in MRI T2-hyperintensities over time are predictive of changes in cognitive functioning. Methods: The authors conducted a prospective longitudinal study of a cohort of 32 patients with NF1 and 11 unaffected sibling controls. All patients underwent neuropsychological assessments and 27 children underwent MRI examinations. The patients were then reassessed after an 8-year period. Results and Conclusions: There was no improvement in cognitive ability as the children with NF1 developed into adulthood compared with controls. Despite significant decreases in the number, size, and intensity of the T2-hyperintensities over the 8-year period, these changes were not associated with changes in cognitive ability. T2-hyperintensities in the cortex or subcortical or deep white matter are more frequent with age and these lesions are likely to have a different pathology than basal ganglia lesions. The best predictor of cognitive dysfunction in adulthood was the presence of T2-hyperintensities in childhood, rather than current lesion status. There is a limited time window (18 years) in which the presence of T2-hyperintensities can be used as biologic markers of cognitive dysfunction.

    Original languageEnglish
    Pages (from-to)1139-1145
    Number of pages7
    Issue number7
    Publication statusPublished - 8 Apr 2003


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