Phénotype psychiatrique des maladies neuromusculaires de l'enfant : revue de la littérature

Since their first description, neuromuscular disorders are considered as pathologies of the peripheral nervous system; nevertheless recent studies suggest the involvement of the central nervous system as well, manifesting in cognitive and psychiatric impairments. The aim of this literature review is to examine the phenotype of children neuromuscular disorders for which data are available: Duchenne Muscular Dystrophy, Myotonic Dystrophy type 1 (Steinert disease), the mitochondrial encephalomyopathies, limb-girdle muscular dystrophies, congenital muscular dystrophies and fascioscapulohumeral dystrophies. Although summarizing the results is complex, the review suggests to distinguish: 1) the psychiatric manifestations that are specific of the central nervous system involvement. It is for example the case when a correlation can be demonstrated between a specific cognitive deficit and a particular neuromuscular disease (as in the Myotonic Dystrophy type 1 or the myopathy of Duchenne); 2) The non-specific psychiatric manifestations, associated to the chronic and invalidating character of these pathologies as mood disorders and the development of low self esteem; 3) The clinical symptoms described in no precise clinical terms which our somatic colleagues range under the word "behavioural phenotype" such as slowness, hyperactivity with attention deficit, and learning difficulties. In the current stage of knowledge, targeted clinical researches would be welcome to clarify the status of these symptoms according to their relevance as phenotypes.