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Background: Chronic respiratory failure often occurs in myotonic dystrophy type 1 (DM1) and can be treated with noninvasive home mechanical ventilation (HMV). Treatment adherence with HMV is often suboptimal in patients with DM1, but the reasons for that are not well understood., Objective: The aim of this exploratory study was to gain insight in the prevalence of mild cognitive impairment, affective symptoms, and apathy and to investigate their role in HMV treatment adherence in DM1., Methods: The Montreal Cognitive Assessment (MoCA), the Hospital Anxiety and Depression Scale (HADS), and the Apathy Evaluation Scale (AES) were used to assess cognition, affective symptoms, and apathy in DM1 patients that use HMV. Patients with low treatment adherence (average daily use HMV <5 h or <80% of the days) were compared with patients with high treatment adherence (average daily use of HMV≥5 h and ≥80% of the days)., Results: Sixty patients were included. Abnormal scores were found in 40% of the total group for the MoCA, in 72-77% for the AES, and in 18% for HADS depression. There was no difference between the high treatment adherence group (n = 39) and the low treatment adherence group (n = 21) for the MoCA, AES, and HADS depression. The HADS anxiety was abnormal in 30% of the total group, and was significantly higher in the low treatment adherence group (p = 0.012). Logistic regression analysis revealed that a higher age and a higher BMI were associated with a greater chance of high treatment adherence., Conclusions: This exploratory study showed that cognitive impairment and apathy are frequently present in DM1 patients that use HMV, but they are not associated with treatment adherence. Feelings of anxiety were associated with low treatment adherence. Higher age and higher BMI were associated with high treatment adherence with HMV.

Background: Myotonic dystrophy type 1 (DM1) is a multisystemic neuromuscular disorder causing a plea of impairments, of which fatigue and apathy are some of the most frequent non-muscular symptoms. No curative treatment exists to date, and patients only have access to limited effective care, which are intended to decrease the burden of specific symptoms in daily life., Objective: This study aimed to assess whether a 12-week strength training program has an impact on fatigue/daytime sleepiness, apathy, and disease bruden in men with DM1., Methods: Eleven participants completed the Fatigue and Daytime Sleepiness Scale (FDSS) and the Myotonic Dystrophy Health Index (MDHI) at baseline, at 6 and 12 weeks, and at 6 and 9 months. Also, the Apathy Evaluation Scale (AES) was filled out at baseline, at 12 weeks, and at 6 and 9 months., Results: Results show significant effects of the training program both on apathy and fatigue/daytime sleepiness, effects that are respectively greater at three and six months after the end of the program than at its very end. However, no difference was observed regarding the overall disease burden., Conclusion: These findings are promising for patients with DM1 considering that few non-pharmacological treatments are available.

Background: The European OPTIMISTIC clinical trial has demonstrated a significant, yet heterogenous effect of Cognitive Behavioural Therapy (CBT) for Myotonic Dystrophy type 1 (DM1) patients. One of its remaining aims was the assessment of efficacy and adequacy of clinical outcome measures, including the relatively novel primary trial outcome, the DM1-Activ-c questionnaire., Objectives: Assessment of the relationship between the Rasch-built DM1-Activ-c questionnaire and 26 commonly used clinical outcome measurements. Identification of variables associated with CBT response in DM1 patients., Methods: Retrospective analysis of the to date largest clinical trial in DM1 (OPTIMISTIC), comprising of 255 genetically confirmed DM1 patients randomized to either standard care or CBT with optionally graded exercise therapy. Correlations of 27 different outcome measures were calculated at baseline (cross-sectional) and of their respective intervention induced changes (longitudinal). Bootstrap enhanced Elastic-Net (BeEN) regression was validated and implemented to select variables associated with CBT response., Results: In cross-sectional data, DM1-Activ-c correlated significantly with the majority of other outcome measures, including Six Minute Walk Test and Myotonic Dystrophy Health Index. Fewer and weaker significant longitudinal correlations were observed. Nine variables potentially associated with CBT response were identified, including measures of disease severity, executive cognitive functioning and perceived social support., Conclusions: The DM1-Activ-c questionnaire appears to be a well suited cross-sectional instrument to assess a variety of clinically relevant dimensions in DM1. Yet, apathy and experienced social support measures were less well captured. CBT response was heterogenous, requiring careful selection of outcome measures for different disease aspects.

Background: The last literature review on psychopathological features in Myotonic Dystrophy type 1 had been conducted by Ambrosini and Nurnberg in 1979. Since that date, many researches had been carried out., Objective: The aim of this study is (i) to systematically obtain and evaluate the relevant literature on psychopathological features, personality, and coping in individuals with adult phenotypes of Myotonic Dystrophy type 1. (ii) To summarize current research findings and draw conclusions for future research., Methods: A systematic search was conducted on Pubmed, PubPsych, PsycInfo, Science Direct, and Scopus covering the period of January 1979 to July 2017., Results: In view of our literature review, patients show mild psychopathological problems, such as interpersonal difficulties, lack of interest, dysphoria, concern about bodily functioning, and hypersensibility. However, they do not experience more psychiatric disorder in comparison to the general population, except for personality disorders and depression. We discussed problems concerning depression's assessment tool. Patients also present symptoms of several personality disorders: avoidant personality disorder was the most common. Finally, coping strategies relative to limitations resulting from their disease have a negative impact on their quality of life., Conclusions: In conclusion, Myotonic Dystrophy type 1 patients did not present homogeneous psychopathological and psychological features. However, based on tendencies observed among Myotonic Dystrophy type 1 patients, elements to conceptualize their social difficulties are provided.

Background: Pacemakers (PM) and implantable cardioverter defibrillators (ICD) may be indicated for sudden death prevention in myotonic dystrophy type 1 (DM1), however the risk of complications after the placement of these devices is unknown., Objective: To compare the rate of device-related complications between PM and ICD implantations in patients with DM1., Methods: Among 914 patients with DM1 included in the DM1 Heart Registry between January 2000 and January 2010, we retrospectively selected 23 patients who were implanted with an ICD and matched them to 46 controls with a PM on age, gender, and year of device placement., Results: Over a 6 years follow-up period, we observed device-related complications in 9 ICD recipients (inappropriate shocks in 5, lead dysfunction in 5, infection in 2) and in 3 PM recipients (lead dysfunction in 3). Patients with an ICD had, compared to those with a PM, higher rates of complications (39.1% vs. 6.5%, p = 0.0006) and more frequent complications requiring hospitalisation and/or re-intervention (respectively 30.4% and 21.7% vs. 0%)., Conclusion: Our study shows a higher risk of device-related complications after the implantation of an ICD than for a PM in patients presenting with DM1.

Objective: We conducted prospective assessments in people with myotonic dystrophy type 1 (DM1) with daytime sleepiness, provided targeted therapies and assessed response., Methods: Patients had overnight sleep assessments. Treatment with continuous positive airway pressure (CPAP) for OSA, non-invasive ventilation (NIV) for respiratory failure, modafinil for excessive daytime sleepiness were commenced., Results: 120 people were studied: mean age 46.9 years (SD 13.2, range 18-74), body mass index 27.9 kg/m2 (7.2, 16-53), Epworth Sleepiness Score (ESS) 13.1 (4.7, 2-24). Twenty one people (18% of group) had OSA: mean age 49.6, BMI 31.1, ESS 14.3, ODI 22, pO2 11.3, pCO2 5.4. All were offered CPAP; seven continued with benefit but 14 had intolerance or no benefit. Thirty-three people (27%) had respiratory failure and abnormal sleep study: mean age 51.5, BMI 31.3, ESS 13.9, ODI 22.9, pO2 8.7, pCO2 6.8. All were offered NIV; 12 continued with benefit but 18 had intolerance or no benefit, 1 died and 2 declined commencement. Thirty-six people (30%) had predominantly sleepiness: mean age 44.8, BMI 24.6, ESS 14.1, ODI 9.2, pO2 11.7, pCO2 5.4. All were offered modafinil; 12 continued this with benefit but 10 had intolerance or no benefit, one was unkeen to start, 11 did not attend further clinic and two had other sleep disorders. Comparing means of treatment responders to non-responders showed no significant difference in any variable, except ESS: 15.9 vs.11.9 respectively, p < 0.0001., Conclusions: Causes of sleepiness are variable in DM1, but include obstructive sleep apnoea, respiratory failure and sleepiness with a normal sleep study; 29% of this studied cohort benefited from targeted sleep therapies.