title: Children and adolescents with neurofibromatosis 1: a behavioral phenotype.
abstract: 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 neuropsychological and behavioral dimensions. In familial cases, diagnostic status was confirmed by gene linkage with greater than 98% accuracy. Visual examinations that included assessments of visual evoked responses (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, subjects with NF1 performed more poorly than unaffected siblings. Children with NF1 were found to be less competent on measures of cognitive, language, and motor development, visual-spatial judgment, visual-motor integration, 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 behavioral phenotype for NF1 and recommendations for preventative interventions are proposed.
authors.affiliation: Department of Pediatrics, University of Utah School of Medicine. Salt Lake City, USA.
authors.forename: C V
authors.initials: CV
authors.lastname: Dilts
authors.forename: J C
authors.initials: JC
authors.lastname: Carey
authors.forename: J C
authors.initials: JC
authors.lastname: Kircher
authors.forename: R O
authors.initials: RO
authors.lastname: Hoffman
authors.forename: D
authors.initials: D
authors.lastname: Creel
authors.forename: K
authors.initials: K
authors.lastname: Ward
authors.forename: E
authors.initials: E
authors.lastname: Clark
authors.forename: C O
authors.initials: CO
authors.lastname: Leonard
mesh_terms: D000293:Adolescent; D001921:Brain / Q000503:physiopathology; D002648:Child; D002653:Child Behavior Disorders / Q000235:genetics* / Q000503:physiopathology / Q000523:psychology; D002658:Developmental Disabilities / Q000235:genetics* / Q000503:physiopathology / Q000523:psychology; D005260:Female; D008040:Genetic Linkage / Q000235:genetics; D006801:Humans; D007389:Internal-External Control; D007859:Learning Disabilities / Q000235:genetics / Q000503:physiopathology / Q000523:psychology; D008297:Male; D009456:Neurofibromatosis 1 / Q000235:genetics* / Q000503:physiopathology / Q000523:psychology; D009460:Neurologic Examination; D009483:Neuropsychological Tests; D010552:Personality Assessment; D010641:Phenotype