CHILDREN AND ADOLESCENTS WITH NEUROFIBROMATOSIS .1. A BEHAVIORAL-PHENOTYPE

Twenty 6- to 17-year-old children with neurofibromatosis 1 (NF1) were compared to 20 age- and sex-matched siblings on a wide range of neurop sychological and behavioral dimensions. In familial cases, diagnostic status was confirmed by gene linkage with greater than 98% accuracy. V isual examinations that included assessments of visual evoked response s (VER) were performed on subjects with NF1. Forty-two percent of NF1 subjects had abnormal VER and underwent magnetic resonance imagery or computed tomography scans of the brain. On a variety of skills, subjec ts with NF1 performed more poorly than unaffected siblings. Children w ith NF1 were found to be less competent on measures of cognitive, lang uage, and motor development, visual-spatial judgment, visual-motor int egration, and academic achievement. Learning disabilities were common in children with NF1. Parents and teachers reported that NF1 subjects had internalizing problems and difficulty interacting with peers. A be havioral phenotype for NF1 and recommendations for preventative interv entions are proposed.