Neurofibromatosis type 1: A model for the pathogenesis of reading disability

It is known that neurofibromatosis 1 is associated with lower IQ in affected individuals than in their unaffected relatives. This disorder once was thought to be a model for Rourke's syndrome of nonverbal learning disabilities, but recent research has revealed that the cognitive phenotype is broader, encompassing verbal, linguistic, and reading impairments. Visuospatial deficit has been confirmed as part of the NF1-associated phenotype, but does not appear to lead to mechanical arithmetic or social failure as Rourke would predict. The reading disability found with NF1 occurs within a developmental language disorder, a context commonly encountered clinically but rarely accounted for by research. Because magnetic resonance imaging yields subcortical rather than cortical findings on children with NF1, this neurogenetic syndrome draws attention to the linguistic contributions of basal ganglia and cerebellum.