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Executive cognitive dysfunction in adult onset Myotonic Dystrophy type 1

Conference contribution
Authors Stefan Winblad
Marita Hällgren
Christopher Lindberg
Published in Abstract booklet: 10th International Myotonic Dystrophy Consortium Meeting (IDMC-10), Paris, France
Publication year 2015
Published at Institute of Neuroscience and Physiology
Department of Psychology
Language en
Links www.idmc10.org/
Keywords Neuropsykologi
Subject categories Clinical Medicine, Psychology

Abstract

Background: executive cognitive dysfunction associated with apathy, reduced planning skills, flexibility and multitasking has been reported in adult onset Myotonic Dystrophy type 1 (DM1). Objectives: we aimed to assess executive functions using neuropsychological tests and to explore correlations with subjective ratings on frontal lobe related behaviour, daytime sleepiness and fatigue. In total, 33 patients with DM1 (16 women and 17 men) participated, with 25 healthy controls. Self-perceived frontal lobe related behaviour, day-time sleepiness and fatigue were assessed using the Frontal Systems Behavior Scale (FrSBe), Epworth Sleepiness Scale (ESS) and the Fatigue Impact Scale (FIS), respectively. The neuropsychological test battery included the Trail Making Test (TMT), Digit Symbol, Stroop Colour Word Test, FAS and the Wisconsin Card Sorting Test (WCST). Results: patients with DM1 performed significantly worse than healthy control subjects (p < .05, with large effect sizes) on all tests measuring executive functions. This difference also included higher scores on the FrSBe self rating, including more apathy, executive dysfunctions and disinhibition. High ratings on apathy and fatigue were associated with lower scores on tests measuring mental flexibility and multitasking. Conclusions: results indicate that frontal lobe related behavioural- and executive dysfunctions is significantly more common in DM1 compared with healthy controls. This means that patients with adult onset DM1 perceive and acknowledge these cognitive impairments, which is also confirmed by neuropsychological test results. Furthermore, executive dysfunctions is associated with apathy and fatigue. These observations are indicative of possible treatment options for dysexecutive behaviour in DM1 in future trials with the aim to reduce apathy and fatigue.

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