Behavioural and cognitive phenotypes in children with neurofibromatosis type 1 (NF1): the link with the neurobiological level

Abstract

Neurofibromatosis type 1 (NF1) is one of the most frequent monogenetic disorder encountered in children. Approximately 50% of children with NF1 develop learning disabilities notably for reading. Understanding the reasons of reading impairment in this context may lead to improve therapeutic methods in NF1 and more generally in reading developmental disorders. An interesting challenge is to disentangle the connections between the different levels of description proposed in the etiological approach. This is the aim of this review based on recent advances in analysis of cognitive deficits observed in children with NF1 and on results of recent brain imaging (structural and functional) or animal model studies.