title: Cognitive deficits in neurofibromatosis 1.
abstract: Cognitive deficits and academic learning difficulties are the most common neurologic "complication" of neurofibromatosis 1 in childhood and can be responsible for significant lifetime morbidity. There is a slight increase in the frequency of mental retardation (Wechsler Full-Scale IQ < 70) in children with neurofibromatosis 1, but the mean Full-Scale IQ for the patient group is within 1 SD of the population mean. Academic difficulties are common, as are specific deficits in visuospatial ability, executive function, expressive and receptive language, and attentional skills. Behavioral and psychosocial problems have a major impact on quality of life, although there are few objective studies in this area Current research is focusing on the pathogenesis of the disorder. Clinical studies have identified possible radiologic and pathologic markers for cognitive deficits in neurofibromatosis 1, which can now be explored in animal models.
authors.affiliation: Children's Hospital at Westmead, Department of Paediatrics and Child Health, University of Sydney, Australia. kathryn@chw.edu.au
authors.forename: Kathryn
authors.initials: K
authors.lastname: North
authors.forename: Shelley
authors.initials: S
authors.lastname: Hyman
authors.forename: Belinda
authors.initials: B
authors.lastname: Barton
mesh_terms: D001921:Brain / Q000473:pathology; D002648:Child; D002653:Child Behavior Disorders / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis* / Q000235:genetics; D007360:Intelligence / Q000235:genetics; D007859:Learning Disabilities / Q000175:diagnosis* / Q000235:genetics; D009456:Neurofibromatosis 1 / Q000175:diagnosis* / Q000235:genetics; D009483:Neuropsychological Tests; D011788:Quality of Life