title: Neurobehavioral profiles of children with neurofibromatosis 1 referred for learning disabilities are sex-specific.
abstract: We compared neurobehavioral profiles of 10 children with neurofibromatosis 1 (NF-1) referred for evaluation of learning disabilities (NF/LD) to those to learning disabled children without known genetic disease (LD), matched for age, sex, and estimated IQ. It was hypothesized that the NF/LD children would exhibit a neurobehavioral profile diagnostic of compromise of frontal/subcortical brain systems while those of the case controls would be heterogeneous. Records from a clinical data base were reviewed retrospectively for the neurological and neuropsychological components of an interdisciplinary learning disabilities evaluation. Neurological abnormalities were more frequent in the NF/LD group, involving gross and fine motor coordination, praxis, and megencephaly. As predicted, clinical neuropsychological diagnostic ratings and composite neurobehavioral observation scores were consistent with compromise of frontal systems in the NF/LD group. An unanticipated finding was that outcomes in the NF/LD group were sex dependent: Megencephaly was observed in females only; and the frontal/subcortical neurobehavioral profile was more consistently observed in females. Females with NF-1 with megencephaly may be at increased risk for a neurobehavioral syndrome contributing to LD that is consistent with compromise of frontal/subcortical brain systems.
authors.affiliation: Department of Neurology, Children's Hospital, Harvard Medical School, Boston, Massachusetts 02115, USA.
authors.forename: C A
authors.initials: CA
authors.lastname: Chapman
authors.forename: D P
authors.initials: DP
authors.lastname: Waber
authors.forename: N
authors.initials: N
authors.lastname: Bassett
authors.forename: D K
authors.initials: DK
authors.lastname: Urion
authors.forename: B R
authors.initials: BR
authors.lastname: Korf
mesh_terms: D001288:Attention; D002648:Child; D005260:Female; D006801:Humans; D007802:Language; D007859:Learning Disabilities / Q000209:etiology*; D008297:Male; D009043:Motor Activity; D009456:Neurofibromatosis 1 / Q000523:psychology*; D009460:Neurologic Examination; D012189:Retrospective Studies; D012727:Sex Characteristics; D012919:Social Behavior; D013060:Speech