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Profile of the Neurofibromatosis Type 1 (NF1) Phenotype: Natural History, Neuropsychological and Psychosocial Aspects
Annual rept. 1 Sep 2000-31 Aug 2001
NEW CHILDRENS HOSPITAL PARRAMATTA (AUSTRALIA) RESEARCH AND DEVELOPMENT
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The natural history of both cognitive functioning and T2-hyperintensities is being examined in a longitudinal study of a cohort of 32 patients with NF1 and 11 controls. Follow-up neuropsychological assessments and cranial MRIs were performed after an 8-year period. Preliminary data analysis suggests that there is no improvement in cognitive function over time. MRI T2-hyperintensities decrease in size, intensity and number over time. However lesions in the basal ganglia behave differently from lesions in the cortex and brainstem, suggesting different underlying pathogenetic mechanisms. The timing of the MRI scan appears important in terms of its ability to predict cognitive deficits. In addition, we are conducting a comprehensive neuropsychological study of a cohort of 80 children with NF1 and 50 sibling controls. Patient ascertainment and testing is still in progress. These children 8-16 years will undergo intensive cognitive assessments and MRIs. The relationship between T2-hyperintensities on cranial MRI and neuropsychological functioning will be examined by determining whether the number, size, or sites of these lesions are predictive of general or specific neuropsychological deficits. A multicentre study is also being conducted to characterise the distribution of IQ scores in a large international cohort of patients with NF1 and to determine whether any clinical or demographic variables are associated with lowering of IQ.
APPROVED FOR PUBLIC RELEASE