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

✍ Scribed by Denckla, Martha Bridge

Publisher
John Wiley and Sons
Year
1996
Tongue
English
Weight
835 KB
Volume
2
Category
Article
ISSN
1080-4013

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✦ Synopsis

It is known that neurofibromatosis 1 is associated with lower IQ in affected individuals than in their unaffected relatives. This disorder once was thought t o 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 o f the NFIassociated phenotype, but does not appear t o lead t o mechanical arithmetic or social failure as Rourke would predict. The reading disability found with NFI 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 NFI, this neurogenetic syndrome draws attention t o the linguistic contributions of basal ganglia and cerebellum.

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