Abstract
BackgroundThe 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.MethodsThis 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.ResultsImportant 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.ConclusionsAdults 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.
Highlights
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
Participants Participants were recruited between July and October 2016 among patients with a Myotonic dystrophy type 1 (DM1) childhood phenotype followed at the Saguenay Neuromuscular Clinic (Québec, Canada)
A moderate positive association was found between the Wechsler Abbreviated Scale of Intelligence II (WASI-II) full-scale IQ score with home management and transportation. This exploratory study is the first step towards a better understanding of independent living and its links to cognitive functioning among adults who have grown with the childhood phenotype of DM1
Summary
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 evolution of cognitive disability has provided conflicting results in individuals with the childhood phenotype; some documented a decline of the general IQ [13, 14] whereas a recent study documented rather stability in cognitive abilities and adaptive behavior over a 7 years period [15]. Those studies have included almost only child or adolescents below 18 years old. It is unclear whether the cognitive profile from childhood to adulthood is stable or declines over time and the impact it could have on their ability to live independently
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