Cognitive behavioural therapy with optional graded exercise therapy in patients with severe fatigue with myotonic dystrophy type 1: a multicentre, single-blind, randomised trial

Okkersen, Kees; Jimenez-Moreno, Aura Cecilia; Wenninger, Stephan; Daidj, Ferroudja; Glennon, Jeffrey; Cumming, Sarah A.; Littleford, Roberta; Monckton, Darren G.; Lochmüller, Hanns; Catt, Michael; Faber, Catharina G.; Hapca, Adrian; Donnan, Peter T.; Gorman, Gráinne; Bassez, Guillaume; Schöser, Benedikt; Knoop, Hans; Treweek, Shaun; Engelen, B.G.M. van; Kierkegaard, Marie; Maas, Daphne M.; Nikolaus, Stephanie; Cornelissen, Yvonne; Nimwegen, Marlies van; Klerks, Ellen; Bouman, Sacha; Heskamp, Linda; Heerschap, Arend; Rahmadi, Ridho; Groot, Perry; Heskes, Tom; Kapusta, Katarzyna; Abghari, Shaghayegh; Aschrafi, Armaz; Poelmans, Geert; Raaphorst, Joost; Trenell, Michael I.; Laar, Sandra van; Wood, Libby; Cassidy, Sophie; Newman, Jane; Charman, Sarah J; Steffaneti, Renae; Taylor, Louise; Brownrigg, Allan; Day, Sharon; Atalaya, Antonio; Hogarth, Fiona; Schüller, Angela; Ståhl, Kristina; Künzel, Heike; Wolf, Martin; Jelinek, Anna; Lignier, Baptiste; Couppey, Florence; Delmas, Stéphanie; Deux, Jean-François; Hankiewicz, Karolina; Dogan, Céline; Minier, Lisa; Chevalier, Pascale; Hamadouche, Amira; Adam, Berit; Hannah, Michael S.; McKenzie, Emma; Rauchhaus, Petra; Hees, Vincent T. van; Catt, Sharon; Schwalber, Ameli; Merkies, Ingemar S. J.; Dittrich, Juliane

doi:10.1016/s1474-4422(18)30203-5

Cited by 95 publications

(118 citation statements)

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“…However, due to differences in instrument versions, this point estimate is not easily comparable to our data. Finally, the DM1‐Activ C was the primary outcome measure in the OPTIMISTIC clinical trial, but no scale data were published except for differences in total scores between examined interventions.…”

Section: Discussionmentioning

confidence: 99%

“…Since its development, the DM1-Activ C has been employed as part of a few studies, 11,12 and the instrument was also included in a recently completed multi-national trial in DM1 (ie the OPTIMISTIC trial). 13 However, to date, no study has reported results from the DM1-Activ C beyond summary point estimates of mean instrument scores. Accordingly, the objective of this study was to investigate the impact of DM1 on activities of daily living as recorded using the DM1-Activ C in patients with DM1 from the UK.…”

Section: Introductionmentioning

confidence: 99%

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Activities of daily living in myotonic dystrophy type 1

et al. 2020

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Objectives The objective of this cross‐sectional, observational study was to investigate performance of activities of daily living in patients with myotonic dystrophy type 1 (DM1). Materials and Methods Adults with genetically confirmed DM1 were recruited from Newcastle University (Newcastle upon Tyne, UK) and University College London Hospitals NHS Foundation Trust (London, UK). Data on activities of daily living were recorded through the DM1‐ActivC (scale scores range between 0 and 100, where a higher/lower score indicates a higher/lower ability). Results Our sample comprised 192 patients with DM1 (mean age: 46 years; 51% female). Patients reported most difficulties with running, carrying and putting down heavy objects, and standing on one leg, and least difficulties with eating soup, washing upper body, and taking a shower. Irrespective of the disease duration (mean: 20 years), most patients were able to perform basic and instrumental activities of daily living (eg personal hygiene and grooming, showering, eating, cleaning and shopping), with the exception of functional mobility/transfer tasks (eg walking uphill and running). The mean DM1‐ActivC total score was estimated at 71 (95% CI: 68‐74). Estimated progenitor cytosine‐thymine‐guanine repeat length and age explained 27% of the variance in DM1‐ActivC total scores (P < .001). Conclusions We show that DM1 impairs performance of activities of daily living, in particular those requiring a high degree of muscle strength, stability and coordination. Yet, across the evolution of the disease, the majority of patients will still be able to independently perform most basic and instrumental activities of daily living.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Activities of daily living in myotonic dystrophy type 1

et al. 2020

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“…For example, despite worsening Muscular Impairment Rating Scale (MIRS) outcomes, Peric et al [17] found that total INQoL scores, as well as several subscale scores, improved over the course of 6 years. Moreover, in a recent multicentre, single-blind, randomised trial, Okkersen et al [20] identified no significant changes in total INQoL scores at 10 months from baseline between patients with DM1 receiving cognitive behavioural therapy plus standard care and optional graded exercise and those receiving standard of care alone, despite significant changes in the main endpoint (i.e. the DM1 activity and participation scale for clinical use [DM1-Activ C ]) and other secondary endpoints.…”

Section: Discussionmentioning

confidence: 99%

“…Third, due to the observational nature of our data, we were unable to draw conclusions regarding causality. Concerning interpretation of results, it is also worth pointing out that we were unable to adjust our estimates for patients’ intelligence quotient (a variable that may have an impact on how patients perceive, and are able to report of, their disease burden), and that none of the patients in our sample received cognitive behavioural or exercise therapy (which recently have proven beneficial for the capacity for activity and social participation in DM1 [20]).…”

Section: Discussionmentioning

confidence: 99%

Disease burden of myotonic dystrophy type 1

et al. 2019

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ObjectiveThe objective of this cross-sectional, observational study was to investigate the disease burden of myotonic dystrophy type 1 (DM1), a disabling muscle disorder.MethodsAdults with DM1 were recruited as part of the PhenoDM1 study from Newcastle University (Newcastle upon Tyne, UK). Disease burden data were recorded through the Individualized Neuromuscular Quality of Life (INQoL) questionnaire. Results were examined by sex and clinical variables [e.g. the six-minute walk test (6MWT), the Mini Mental State Examination, and estimated progenitor and modal allele CTG repeat length].ResultsOur sample consisted of 60 patients with DM1 (mean age: 45 years; 45% female). Muscle weakness and fatigue constituted the two most common disease manifestations, reported by 93% and 90% of patients, respectively, followed by muscle locking (73%). Most patients (> 55%) reported feeling anxious/worried, depressed, frustrated, and/or having low confidence/self-esteem, 23% and 33% indicated substantial impairment of daily and leisure activities, respectively, and 47% did not work as a consequence of the disease. Estimated progenitor CTG length corrected by age correlated surprisingly well with INQoL scores. Differences by sex were generally minor.ConclusionWe show that DM1 is associated with a substantial disease burden resulting in impairment across many different domains of patients’ lives, emphasizing the need for a holistic approach to medical management. Our results also show that the INQoL records relevant information about patients with DM1, but that further investigation of the psychometric properties of the scale is needed for meaningful interpretation of instrument scores.

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“…There is limited literature available to evaluate the effect of exercise in individuals with myotonic dystrophy. Results from previous studies have ranged from no change from baseline to some improvement in strength and function . While informative, many prior studies have involved small numbers of subjects, and exercise regimens varied, leading to uncertainty as to which activities to recommend to patients with DM1.…”

Section: Introductionmentioning

confidence: 99%

Endurance exercise leads to beneficial molecular and physiological effects in a mouse model of myotonic dystrophy type 1

2019

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Introduction Myotonic dystrophy type 1 (DM1) is a multisystemic disease caused by expansion of a CTG repeat in the 3' UTR of the Dystrophia Myotonica‐Protein Kinase (DMPK) gene. While multiple organs are affected, more than half of mortality is due to muscle wasting. Methods It is unclear whether endurance exercise provides beneficial effects in DM1. Here, we show that a 10‐week treadmill endurance exercise program leads to beneficial effects in the HSALR mouse model of DM1. Results Animals that performed treadmill training displayed reduced CUGexp RNA levels, improved splicing abnormalities, an increase in skeletal muscle weight and improved endurance capacity. Discussion These results indicate that endurance exercise does not have adverse effects in HSALR animals and contributes to beneficial molecular and physiological outcomes.

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Cognitive behavioural therapy with optional graded exercise therapy in patients with severe fatigue with myotonic dystrophy type 1: a multicentre, single-blind, randomised trial

Abstract: The European Union Seventh Framework Programme.

Cited by 95 publications

References 36 publications

Activities of daily living in myotonic dystrophy type 1

Activities of daily living in myotonic dystrophy type 1

Disease burden of myotonic dystrophy type 1

Endurance exercise leads to beneficial molecular and physiological effects in a mouse model of myotonic dystrophy type 1

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