title: Longitudinal assessment of cognition and T2-hyperintensities in NF1: an 18-year study.
abstract: The developmental course of cognitive deficits in individuals with neurofibromatosis type 1 (NF1) is unclear. The objectives of this study were to determine the natural history of cognitive function and MRI T2-hyperintesities (T2H) from childhood to adulthood and to examine whether the presence of discrete T2H in childhood can predict cognitive performance in adulthood. We present cognitive and structural neuroimaging data from 18 patients with NF1 and five sibling controls assessed prospectively across an 18-year period. Longitudinal analyses revealed a significant increase in general cognitive function in patients with NF1 over the study period. Improvements were limited to individuals with discrete T2H in childhood. Patients without lesions in childhood exhibited a stable profile. The number of T2H decreased over time, particularly discrete lesions. Lesions located within the cerebral hemispheres and deep white matter were primarily stable, whereas those located in the basal ganglia, thalamus and brainstem tended to resolve. Our results support the hypothesis that resolution of T2H is accompanied by an improvement in general cognitive performance, possibly as a result of increased efficiency within white matter tracts.
authors.affiliation: Institute for Neuroscience and Muscle Research, The Children's Hospital at Westmead, Sydney, Australia; Discipline of Pediatrics and Child Health, Faculty of Medicine, University of Sydney, Sydney, Australia.
authors.forename: Jonathan M
authors.initials: JM
authors.lastname: Payne
authors.forename: Tania
authors.initials: T
authors.lastname: Pickering
authors.forename: Melanie
authors.initials: M
authors.lastname: Porter
authors.forename: Emily C
authors.initials: EC
authors.lastname: Oates
authors.forename: Navdeep
authors.initials: N
authors.lastname: Walia
authors.forename: Kristina
authors.initials: K
authors.lastname: Prelog
authors.forename: Kathryn N
authors.initials: KN
authors.lastname: North
mesh_terms: D000293:Adolescent; D001921:Brain / Q000473:pathology; D016022:Case-Control Studies; D002648:Child; D003071:Cognition; D005260:Female; D006801:Humans; D007361:Intelligence Tests; D008137:Longitudinal Studies; D008279:Magnetic Resonance Imaging; D008297:Male; D009456:Neurofibromatosis 1 / Q000175:diagnosis* / Q000523:psychology*
keywords: cognition; longitudinal studies; magnetic resonance imaging; neurofibromatosis type 1