Étude électroencéphalographique de l'apprentissage par habituation chez les enfants atteints de la neurofibromatose de type 1

 

Eve Lalancette

Centre hospitalier universitaire Sainte Justine

 

Domaine : santé de la mère, des enfants et des adolescents

Programme Formation de maîtrise

Concours 2018-2019

Partenaire :

Fondation des Étoiles

Neurofibromatosis type 1 (NF1) is one of the most common genetic disorders with a prevalence of 1 in 3000. This disease, caused by the mutation of the NF1 gene, often comes with cognitive deficits. Approximately 60% of children with NF1 have learning difficulties and 50% meet the diagnostic criteria for ADHD (Levine, Materek, Abel, O'Donnell, & Cutting, 2006). A recent study on an animal model of NF1 (Wolman et al., 2014) highlighted the molecular mechanism by which the NF1 mutation leads to habituation deficits. Habituation is a basic form of learning that allows to reduce the attention given to stimuli presented repeatedly. It is a learning mechanism preserved across species and is required for cognitive functions of higher level. However, no study has yet investigated habituation deficits in humans with NF1. We therefore propose an electroencephalography (EEG) study that will investigate short-term habituation mechanisms in NF1 children and adolescents.

First, we will compare EEG measurements of NF1 participants (n = 50) with those we have already accumulated with more than 50 control participants. Secondly, we will compare EEG measurements of the NF1 participants with those of children and adolescents with tuberous sclerosis complex (TSC), of which 20 have already been tested. Since TSC is a genetic disorder that has great similarity with NF1 in terms of the altered molecular mechanisms leading to cognitive deficits, it would be highly relevant to establish a link between the electrophysiological measurements of these two genetic diseases. We hypothesize that there will be an habituation deficit in NF1 as well as in TSC, and that the severity of the deficit will vary according to the level of IQ.