Phénotypes cognitifs dans la dystrophie musculaire de Duchenne: Revue de la littérature et perspectives (neuro) développementales.

Duchenne muscular dystrophy (DMD) is a neurogenetic pathology affecting 4 boys out of 3500 births. The objective of this review of the literature is to analyze the cognitive profile of children with DMD according to a developmental perspective and the link between cognitive phenotype and genotype. A systematic search of PubMed and PsycINFO identified 48 articles of interest. In the absence of systematic intellectual deficiency in the pathology, variable cognitive impairments were found. While visuo-perceptive capacity was generally maintained, verbal capacities were affected. More subtly, written language, short-term memory, working memory, cognitive flexibility and, more generally, executive functions seem to be vulnerable domains. At a minimum, one finds impairment at the level of oral language treatment, in long-term memory, as well as in social cognition and dealing with emotions in particular. Combined with a frequent psychiatric comorbidity (20 to 30%), the profiles of children with DMD are characterized by significant heterogeneity, linked with the part of the altered dystrophin gene. Mutations affecting Dp140 and Dp71 had a strong impact at the cognitive level, while, conversely, affected Dp427 and Dp260 isoforms had a modulating effect on psychiatric comorbidity. The question of a continuum between cognitive vulnerability associated with DMD and the plasticity potential of educational support and early cognitive remediation programs are also discussed.