Cognition trajectory in Duchenne muscular dystrophy

Abstract

Abstract Background Duchenne muscular dystrophy (DMD) is an X-linked recessive disease brought on by genetic changes that alter the dystrophin (DYS) protein. There has been growing evidence that children with DMD have been at higher risk of developing symptoms of neurodevelopmental disorders. We aimed at defining the cognitive difficulties and their categories in patients with DMD, compared to healthy controls, and assessing their relation with the functional severity. This work was a multi-center, observational, case–control study conducted on DMD patients. Age and sex-matched healthy subjects with no neurologic, psychiatric, or medical comorbidities were included as normal controls. Results There was a statistically significant difference in cognitive patterns between the studied groups. We have observed a significant relationship between cognitive difficulties and functional severity assessment in our patients. There was a statistically significant difference between the studied cases regarding basic characteristics and correlation between cognitive functions and demographic data. Conclusions The decline in cognitive functions in DMD patients compared to healthy controls was established. Education was the most affected domain in patients, with more speech delay and dropping out of school. Therefore, it was recommended to establish cognitive screening as a routine in the evaluation and follow-up of DMD children.