Neuropsychological profile of children with neurofibromatosis, brain tumor, or both.

Neurofibromatosis type 1, a common autosomal dominant genetic disorder, is associated with numerous physical and medical anomalies as well as an increased incidence of learning disability. Tumors of the central nervous system have been estimated to occur in 15%, but their contribution to neuropsychological status is unknown. This study examines the relative contribution of neurofibromatosis and brain tumor to the cognitive profile of children with neurofibromatosis. A comprehensive battery of neuropsychological and behavioral tests was administered to a group of 65 children with neurofibromatosis type 1. Fourteen were then matched on demographic variables with two other groups of children who had either a brain tumor in addition to neurofibromatosis or a brain tumor alone. The two brain tumor groups were also matched on tumor type, location, and therapy. Mean scores of the neurofibromatosis-brain tumor group were generally the lowest of the three groups; those of the brain tumor group were highest, and performance of the neurofibromatosis group was generally between the other two groups. These results suggest that neurofibromatosis is, by itself, associated with significant cognitive morbidity, but that the severity of the problems is increased somewhat if a brain tumor is also present.