Steinert’s disease (or myotonic dystrophy type 1) is one of the most common neuromuscular diseases, affecting adults and more rarely, children. This multisystemic pathology is at the origin of muscular, cardiac, ophthalmic and endocrine complications. The existence of cognitive disorders, and more generally, involvement of the central nervous system, is increasingly widely accepted.
In an article published in March 2018, researchers from the Institute of Myology, supported by the AFM-Telethon, performed a comprehensive update about the possible association between Steinert’s disease and autistic disorders, an issue that has been hotly debated. From a literature review based on 175 patients with an early form of the disease (with onset of symptoms between 1 and 10 years), the authors highlight the complexity of phenotypes presented, both neuropsychologically and with imaging, but also the methodological difficulties in the absence of consensus to qualify and quantify these disorders. Autism spectrum disorders are indeed very polymorphic and evaluated differently depending on research teams and countries. In spite of this, the early detection and the fine characterisation of these difficulties appear to be essential for the care of these children by specialised therapists.
