A preliminary study recently published in Frontiers in Psychology found that individuals with Duchenne muscular dystrophy (DMD) may be at increased risk of diminished social cognition, also known as social skills.
Neuropsychological and intellectual impairments have previously been described in patients with DMD, suggesting central nervous system (CNS) involvement. However, pathological studies on the patterns of dystrophin distribution in the CNS of patients with DMD remain limited. Additionally, very few studies have explored the area of social cognitive functioning in DMD.
“The aim of this study is to provide further data about the possible impairment of social cognition skills in [children with DMD], identifying unexplored areas that could be relevant based on the recent findings about dystrophin expression in human CNS,” the authors wrote.
The study included 22 patients with DMD with an average age of about 12 years. Among the participants, 13 also had a mutation believed to impact the expression of Dp140, a form of dystrophin primarily expressed in the brain during fetal neurodevelopment. Dp140 is believed to play a role in cognitive function.
Read more about DMD signs and symptoms
The investigators combined items from two cognitive scales and administered the tests to 20 participants; two were excluded due to neurodevelopmental comorbidities. They evaluated two sub-items: theory of mind, which is the ability to understand the thoughts and perspectives of others, and affect recognition, which is the ability to interpret the emotions of others.
The study found that overall theory of mind (P = 0.001) and affect recognition (P < 0.001) scores were significantly lower among patients with DMD than the established reference scores. Even after stratifying by presence of Dp140 mutations or presence of cognitive impairment, this association remained significant.
When assessing differences within sub-groups, however, the study only found a significant difference in affect recognition scores between those with and without cognitive impairment (P = 0.006).
An association between Dp140 mutation status and affect recognition scores was also observed, though it did not achieve statistical significance (P = 0.076). This association held even after adjusting for presence of social cognitive impairment, though the result remained statistically insignificant.
“This finding is preliminary and should be taken with caution, given the low
numerosity and the absence of significance when analyzing without the influence of cognitive disability,” the authors emphasized. “Nevertheless, it provides additional evidence of a possible specific impairment in this area as another feature of the CNS phenotype of DMD, consistent with a few other previous reports.”
Sign up here to get the latest news, perspectives and information about DMD sent directly to your inbox. Registration is free and only takes a minute.
