Accomplishment of instrumental activities of daily living and its relationship with cognitive functions in adults with myotonic dystrophy type 1 childhood phenotype: an exploratory study

Abstract

Background The childhood phenotype of myotonic dystrophy type 1 (DM1) involves impaired cognitive functioning starting in infancy, which may compromise later on their ability to carry out instrumental activities of daily living (IADLs) necessary for living independently. The current study aims to document the ability to perform IADLs among adults with the childhood phenotype of DM1 and to explore its links to cognitive functioning. Methods This cross-sectional exploratory study was conducted among 11 individuals living with DM1. IADLs related to money management, home management & transportation and health & safety activities were assessed by the Independent Living Scale (ILS). Neuropsychological tests assessed participants’ intellectual abilities and executive functioning. Associations were investigated using Spearman’s rho correlation. Results Important difficulties were found in all three categories of IADLs, mostly in money management in which only 2/11 participants were scored as independent. 8/11 participants showed low to very low intellectual functioning and limit to impaired executive functioning. Apathy was also a common feature as 5/11 participants showed clinical level of apathy. A lower IQ was associated with greater difficulty in the home management & transportation subtest of the ILS. Conclusions Adults with the childhood phenotype of DM1 demonstrate relative dependence in regard to the following IADLs: money management and home management & transportation. Level of dependence is, at least partially, associated with cognitive impairments. The work relates to results from an exploratory study; thus, studies must be pursued to describe in more details difficulties experienced by this population.

Cognitive impairment, neuroimaging abnormalities, and their correlations in myotonic dystrophy: a comprehensive review

“…Multiple factors play an essential role in contributing to the variations in cognitive status among these forms, including the length of the CTG repeat expansion in the DMPK gene, age at onset, and inheritance pattern ( Palmer et al, 1994 ; Winblad et al, 2006 , 2016 ; Tremblay et al, 2021 ). An earlier onset and longer disease duration both indicate more severe cognitive deficits.…”

267th ENMC International workshop: psychological interventions for improving quality of life in slowly progressive neuromuscular disorders

“…Additionally, social cognition has also been studied in DM1, and it is suggested that while patients don't show difficulties in social cognition tasks that demand higher cognitive processes, such as Theory of Mind, they perform worse on less cognitively demanding social cognition tasks, such as facial emotion recognition [25]. This cognitive impairment could be reflected in the observed functional disability and dependency in daily activities [26,27]. On average people with cognitive symptoms show lower social engagement, more psychosocial problems, and poorer psychosocial well-being [28,29].…”

Longitudinal Changes in Neuropsychological Functioning in Japanese Patients with Myotonic Dystrophy Type 1: A Five Year Follow-Up Study

“…Although previous studies have examined longitudinal cognitive changes in DM1, the declines over time in this population remain unclear. Since cognitive function is associated with a patient's participation, independence, and quality of life [17][18][19][20], identifying the longitudinal course of cognitive impairment may contribute to plans for support and interventions [21]. Therefore, further evidence of longitudinal changes in cognitive functioning in patients with DM1 is essential to improve our understanding of cognition in DM1.…”