title: Neurocognitive dysfunction in children with neurofibromatosis type 1.
abstract: The cognitive dysfunction associated with neurofibromatosis type 1 (NF1) is an intriguing aspect of this phenotypically heterogeneous genetic neurocutaneous disorder. A broad range of both nonverbal and verbal learning disabilities are evident in approximately 30% to 65% of children with NF1. Deficits in IQ, executive function, attention, and motor skills have also been documented. Current challenges lie in discovering the underlying multifactorial etiologies of the cognitive abnormalities found in NF1. Likely answers lie in neuroanatomic correlates as seen on neuroimaging as well as in molecular and genetic advances into the role of neurofibromin, the protein product of the NF1 gene. The development of NF1 animal models with learning and memory difficulties similar to those seen in humans demonstrates promising preliminary evidence that medical treatment of cognitive abnormalities may one day be possible.
authors.affiliation: Department of Neurology, Children's National Medical Center, 111 Michigan Avenue NW, Washington, DC 20010, USA. trosser@cnmc.org
authors.forename: Tena L
authors.initials: TL
authors.lastname: Rosser
authors.forename: Roger J
authors.initials: RJ
authors.lastname: Packer
mesh_terms: D000818:Animals; D001288:Attention / Q000502:physiology; D001289:Attention Deficit Disorder with Hyperactivity / Q000209:etiology / Q000473:pathology; D003071:Cognition / Q000502:physiology; D003072:Cognition Disorders / Q000209:etiology* / Q000473:pathology / Q000523:psychology; D004330:Drosophila; D006801:Humans; D008607:Intellectual Disability / Q000209:etiology; D007802:Language; D007859:Learning Disabilities / Q000453:epidemiology / Q000523:psychology; D008279:Magnetic Resonance Imaging; D051379:Mice; D009048:Motor Skills / Q000502:physiology; D009422:Nervous System Diseases / Q000209:etiology* / Q000473:pathology / Q000523:psychology; D009456:Neurofibromatosis 1 / Q000150:complications* / Q000473:pathology / Q000523:psychology; D025542:Neurofibromin 1 / Q000502:physiology; D011597:Psychomotor Performance / Q000502:physiology
chemical_list: D025542:Neurofibromin 1