Cognitive assessment in patients with myotonic dystrophy type 2

Abstract

Myotonic dystrophy type 2 (DM2) is an autosomal dominant multisystemic disorder. Previous studies conducted on small cohorts of DM2 patients indicated presence of a cognitive dysfunction. We aimed to assess cognitive functions in a larger cohort of Serbian DM2 patients using an extensive battery of neuropsychological tests. The study included 76 patients with a genetically confirmed DM2, 68 of whom had all tests for different cognitive domains performed. Patients underwent clinical and neuropsychological testing, including cognitive screening and assessment of general intellectual level, attention, executive and visuospatial abilities, memory, and language functions. Only 6% of patients achieved a below-average score on the general intellectual level test. Cognitive screening tests indicated presence of cognitive deficits in 5.5% of patients according to the Mini Mental State Examination test and 25.8% according to the Addenbrooke's Cognitive Examination Revised test. Twenty-four (35.3%) patients had a cognitive impairment (being two standard deviations out of norm in at least two cognitive domains). Around one quarter of DM2 patients had a significant cognitive impairment that interfered with their everyday functioning. Patients with significant cognitive impairment were older at testing and at disease onset, less educated, and had more severe muscle weakness.