Myotonic dystrophy type 1 (DM1) is a complex, multisystemic neuromuscular disorder that affects various systems, including the muscular and central nervous systems. The natural history of DM1 includes a cognitive decline over time across multiple cognitive functions. However, the course of the cognitive profile remains unknown over short follow-up intervals. The study aimed to document the course of the neuropsychological profile in adults with DM1 over 12 months using classic paper-pencil tests and computerized cognitive tests from the Cambridge Neuropsychological Test Automated Battery (CANTAB®). Adult participants with a genetically confirmed diagnosis of juvenile, adult, or late-onset phenotype of myotonic dystrophy type 1 (DM1) underwent a battery of traditional paper-and-pencil tests alongside four assessments from the computerized cognitive battery, CANTAB®. Cognitive functions were evaluated at baseline and at two follow-up points, each 6 months apart. Repeated measures ANOVAs were conducted, followed by post hoc analyses to compare results across the different time points. Significant changes were interpreted in relation to the measurement error. Forty-four participants with DM1 (m = 45.5 ± 11.2 years) were assessed (50

Myotonic dystrophy type 1 (DM1) is a hereditary disease characterized by muscular impairments. Fundamental and clinical positive effects of strength training have been reported in men with DM1, but its impact on women remains unknown. We evaluated the effects of a 12-week supervised strength training on physical and neuropsychiatric health. Women with DM1 performed a twice-weekly supervised resistance training program (3 series of 6-8 repetitions of squat, leg press, plantar flexion, knee extension, and hip abduction). Lower limb muscle strength, physical function, apathy, anxiety and depression, fatigue and excessive somnolence, pain, and patient-reported outcomes were assessed before and after the intervention, as well as three and six months after completion of the training program. Muscle biopsies of the vastus lateralis were also taken before and after the training program to assess muscle fiber growth. Eleven participants completed the program (attendance: 98.5 %). Maximal hip and knee extension strength (p < 0.006), all One-Repetition Maximum strength measures (p < 0.001), apathy (p = 0.0005), depression (p = 0.02), pain interference (p = 0.01) and perception of the lower limb function (p = 0.003) were significantly improved by training. Some of these gains were maintained up to six months after the training program. Strength training is a good therapeutic strategy for women with DM1.

ObjectifLes problèmes de sommeil sont fréquents dans la forme classique de dystrophie myotonique de type 1 (DM1) mais peu d’études se sont intéressées à la forme infantile de cette maladie. L’objectif de la présente étude est d’évaluer le rythme veille-sommeil d’adultes atteints de la forme infantile de DM1 au moyen de l’actimétrie.MéthodesDix-sept patients atteints de la forme infantile de DM1 et 17 contrôles appariés pour l’âge et le sexe (12 femmes, âge moyen 40,2 ans) ont respectivement porté un actimètre pendant quatre semaines et une semaine. Le logiciel R v4.1.3 a été utilisé pour les comparaisons intergroupes.RésultatsLes patients se couchaient (p<0,01) et se levaient (p<0,001) plus tard que les contrôles. Aussi, les patients présentaient une plus longue latence du sommeil (p<0,05), davantage et de plus longs éveils nocturnes (p<0,001) et une plus faible efficacité du sommeil (p<0,001) que les contrôles. De plus, les patients avaient une plus faible stabilité inter-journalière (IS, p<0,001) et une plus faible amplitude relative (RA, p<0,001) que les contrôles. Finalement, deux patients présentaient un syndrome de retard de phase du sommeil et un patient présentait un rythme différent de 24h.ConclusionComparativement à celui de sujets sains, le sommeil de patients adultes atteints de la forme infantile de DM1 semble être de moins bonne qualité. Également, le rythme veille-sommeil de ces derniers est moins stable et moins robuste. Cette étude confirme par ailleurs que la présence de troubles du rythme circadien veille-sommeil intrinsèques dans la DM1 n’est pas fortuite.

Patient-reported outcome measures (PROMs) are valuable in comprehensively understanding patients' health experiences and informing healthcare decisions in research and clinical care without clinicians' input. Until now, no central resource containing information on all PROMS in neuromuscular diseases (NMD) is available, hindering the comparison and choice of PROMs used to monitor NMDs and appropriately reflect the patient's voice. This scoping review aimed to present a comprehensive assessment of the existing literature on using PROMs in children and adults with NMD. A scoping methodology was followed using Preferred Reporting Items for Systematic reviews and Meta-Analyses extension for Scoping Reviews (PRISMA-ScR) and COnsensus-based Standards for the selection of health Measurement INstruments (COSMIN) guidelines to assess the literature on PROMs in NMDs. Eligibility criteria encompassed articles describing psychometric development or evaluation of generic or disease-specific PROM-based instruments for adults and children with specific NMDs. The data charting process involved extracting measurement properties of included PROMs, comprising validity, reliability, responsiveness, and interpretability information. The review identified 190 PROMs evaluated across 247 studies in individuals with NMDs. The majority of PROMs were disease specific. The physical functioning domain was most assessed. Validity was the most frequently investigated measurement property, with a limited number of PROMs sufficiently evaluated for a range of psychometric characteristics. There is a strong need for further research on the responsiveness and interpretability of PROMs and the development of PROMs on social functioning in NMD.

BACKGROUND:Excessive daytime sleepiness is a common symptom of myotonic dystrophy. Psychostimulants are drugs that are increasingly used to treat hypersomnia in myotonic dystrophy. OBJECTIVES:To assess the effects of psychostimulants in myotonic dystrophy patients with hypersomnia. SEARCH METHODS:We searched the Cochrane Neuromuscular Specialised Register, CENTRAL, MEDLINE, Embase, ClinicalTrials.gov, and WHO ICTRP on 5 January 2023. We also checked the bibliographies of identified papers and made enquiries of the authors of the papers. SELECTION CRITERIA:We considered all randomised controlled trials that have evaluated any type of psychostimulant (versus a placebo or no treatment) in children or adults with myotonic dystrophy, confirmed by clinical and electromyographic diagnostic, or genetic testing, and hypersomnia. DATA COLLECTION AND ANALYSIS:Two review authors independently scrutinised potentially relevant papers for study inclusion, with any disagreements resolved by discussion. Two review authors independently performed data extraction. We obtained unpublished data from some study authors. We assessed the methodological quality of trials and applied GRADE to assess the certainty of evidence. Review authors did not contribute to eligibility or risk of bias assessment or data extraction of trials in which they had participated. When cross-over trials were included in the analysis, treatment effects were summarised as mean difference (MD) between treatment effects and standard error, and analysed by generic inverse variance. MAIN RESULTS:We included six trials (136 participants). All studies included only adult outpatients, aged from 18 to 70 years old, and followed them only in the short term (up to four weeks). Five trials had a cross-over design. We judged five trials as being at low risk of bias. Primary outcome Data for mean improvement in the Maintenance of Wakefulness Test were available from three trials. The MD was 3.59 (95% confidence interval (CI) -0.06 to 7.24) minutes, and there was marked heterogeneity across studies (I2 = 71%). We downgraded the certainty of evidence to very low for inconsistency and imprecision. Secondary outcomes Data for mean improvement in the Epworth Sleepiness Scale were available from five trials. The MD was -2.55 (95% CI -4.00 to -1.11, P < 0.001) in favour of modafinil with considerable heterogeneity across studies (I2 = 80%). We downgraded the certainty of evidence to low for inconsistency. The effects of psychostimulants on excessive daytime sleepiness as assessed by the Multiple Sleep Latency Test (MD -1.82, 95% CI -5.57 to 1.93; P = 0.34; very low certainty evidence) and on quality of life (MD 1.27, 95% CI -3.63 to 6.17; I2 = 0%; very low certainty evidence) were very uncertain. The risk ratio for experiencing adverse events was 1.70 (95% CI 0.75 to 3.85; P = 0.20; I2 = 0%; low certainty evidence). No trial evaluated our primary or secondary outcomes in the long term. We were not able to perform planned subgroup analyses as none of the trials provided relevant data. AUTHORS' CONCLUSIONS:In myotonic dystrophy, the effects of psychostimulants on excessive daytime sleepiness as assessed by the Maintenance of Wakefulness Test or Multiple Sleep Latency Test and on quality of life are very uncertain. Psychostimulants may improve hypersomnia as self-evaluated by the Epworth Sleepiness Scale and may increase the risk of adverse events. More randomised trials are needed to evaluate the efficacy and safety of psychostimulants in both the short and long term.

Myotonic dystrophy type 1 (DM1) is a multisystemic inherited neuromuscular disease leading to central nervous system symptoms, including cognitive impairments, among multiple other symptoms. However, information is presently lacking regarding the psychometric properties of neuropsychological tests and promising computerized cognitive tests, such as the Cambridge Neuropsychological Test Automated Battery (CANTABⓇ). This type of information is critical to improve clinical trial readiness and provide knowledge of DM1 natural history. The aims of the present study were (1) to document the intrarater reliability of classic paper-pencil tests assessing visuospatial working memory, cognitive flexibility, attention, episodic memory and apathy, and (2) to compare these findings with their equivalent computerized automated tests from the CANTABⓇ. Thirty participants were seen twice at four-week intervals. Results showed that the Stroop Color and Word Test (ICC = 0.741-0.869) and the Ruff 2 & 7 (ICC = 0.703-0.871) appear to be reliable paper-and-pencil tests in the DM1 population. For the CANTABⓇ, a similar observation was made for the Multitasking test (ICC = 0.588-0.792). Further studies should explore the applicability and concurrent validity of the CANTAB® and classic neuropsychological assessments in additional cohorts of DM1 patients.

•Apathy is correlated with CTG repeat sizes in myotonic dystrophy type 1 (DM1).•DM1 patients with apathy have lower daytime activity levels than those without.•DM1 patients with apathy are exposed to lower bright light than those without.

This workshop aimed to develop recommendations for psychological interventions to support people living with slowly progressive neuromuscular disorders (NMD). The workshop comprised clinicians, researchers, people living with NMD and their relatives. First, participants considered the key psychological challenges presented by NMD and the impact of NMD on relationships and mental health. Later, several psychological approaches for enhancing well-being in NMD were described. The results of randomised controlled trials of Cognitive Behaviour Therapy and Acceptance and Commitment Therapy for improving fatigue, quality of life, and mood in adults with NMD were examined. Then the group considered ways to adapt therapies for cognitive impairments or neurodevelopmental differences that occur in some NMD, alongside ways to support children and adolescents with NMD and their family members. Based on the evidence from randomised controlled trials, carefully conducted observational studies, and the coherence of these data with the experience of those living with NMD, the group recommends that psychological interventions should be embedded in the routine clinical care offered to people living with NMD.

BACKGROUND: Research has shown that some people with neuromuscular diseases may have a lower level of education due to lower socioeconomic status and possibly compromised health literacy. In view of these data, it appears important to document their decision-making needs to ensure better support when faced with the decision to participate or not in research projects. OBJECTIVES: 1) To document the decision-making needs of individuals with neuromuscular diseases to participate in research; 2) To explore their preferences regarding the format of knowledge translation tools related to research participation. METHODS: This qualitative study is based on the Ottawa Decision Support Framework. A two-step descriptive study was conducted to capture the decision-making needs of people with neuromuscular diseases related to research participation: 1) Individual semi-directed interviews (with people with neuromuscular diseases) and focus groups (with healthcare professionals); 2) Synthesis of the literature. RESULTS: The semi-directed interviews (n = 11), the two focus groups (n = 11) and the literature synthesis (n = 50 articles) identified information needs such as learning about ongoing research projects, scientific advances and research results, the potential benefits and risks associated with different types of research projects, and identified values surrounding research participation: helping other generations, trust, obtaining better clinical follow-up, and socialization. CONCLUSION: This paper provides useful recommendations to support researchers and clinicians in developing material to inform individuals with neuromuscular diseases about research participation.

Daytime sleepiness and fatigue are prominent symptoms of myotonic dystrophy type 1 (DM1) that can be amenable to treatment in the context of randomized controlled trials. No study has yet documented whether self-reported measures of daytime sleepiness and fatigue can detect change over time and the meaning of this change. The aim was to explore indicators of responsiveness to change and interpretability for the Daytime Sleepiness Scale and the Fatigue Severity Scale in 115 DM1 prospectively followed patients. Results suggest that these two self-reported questionnaires are sufficiently sensitive to detect changes beyond expected measurement error over time in this population.

Myotonic dystrophy type 1 (DM1) is the most common muscular dystrophy among adults. This cross-sectional study documents the level of independence in the instrumental activities of daily living (IADL) and explores the impact of executive functions and apathy on IADL accomplishment level among adults with the childhood phenotype of DM1. IADL accomplishment level was assessed with the Independent Living Scale (ILS) and the Activities of Daily Living Profile (ADL Profile). The later considered four operations related to executive functions: formulating a goal, planning, carrying out the task and goal attainment. Thirty-three individuals (19 females; mean age 39y, standard deviation 10y 6mo; range 23-57y) were recruited. According to the ILS total score, half of the participants were categorised as dependent. In financial management, no participant obtained the minimal score for independence. In the ADL Profile, higher dependence levels were frequent in IADL. Formulating a goal was the most difficult operation. Dependence level was more frequent in participants with apathy. Adults with the childhood phenotype exhibit significant difficulties in IADL accomplishment, especially considering their age. High levels of dependency observed with both outcome measures highlight their need for services to achieve optimal living conditions.

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.

This article highlights the challenges of integration and academic success of international students in the Saguenay-Lac-Saint-Jean CEGEPs, a region with low ethnocultural density. This region has been welcoming these students for over a decade. Although present, there is scarce information on the internationalization of education phenomenon in the CEGEPs of the region. The objective of this research is to gain a better understanding of the challenges related to the integration and academic success of international students. To do so, individual interviews were conducted with 21 international students. Results show that students generally have a positive image of the CEGEPs and their teachers. Also, the migratory experience is marked by differences between the country of origin and the country of migration for studies. According to these students, integration is not "a long calm river"; they must persevere to succeed during their academic progress. This article provides pedagogical and social contributions by highlighting the importance of the role of teachers, CEGEPs, and the collegiate and civil communities in the integration and academic success of international students.

Aim: Myotonic dystrophy type 1 (DM1) is caused by an unstable trinucleotide (CTG) expansion at the DMPK gene locus. Cognitive dysfunctions are often observed in the condition. We investigated the association between DMPK blood DNA methylation (DNAm) and cognitive functions in DM1, considering expansion length and variant repeats (VRs). Method: Data were obtained from 115 adult-onset DM1 patients. Molecular analyses consisted of pyrosequencing, small pool PCR and Southern blot hybridization. Cognitive functions were assessed by validated neuropsychological tests. Results: For patients without VRs (n = 103), blood DNAm at baseline independently contributed to predict cognitive functions 9 years later. Patients with VRs (n = 12) had different DNAm and cognitive profiles. Conclusion: DNAm allows to better understand DM1-related cognitive dysfunction etiology.

Purpose For slowly progressive neuromuscular disease, prognostic approach and long-term monitoring of participation is a crucial part of rehabilitation services. To improve the prognostic approach, professionals must identify individuals at risk of having higher participation restriction. This study aimed to identify personal and environmental predictors of participation restriction over nine years in adults with myotonic dystrophy type 1 (DM1). Methods A secondary analysis of a longitudinal design comparing baseline with a follow-up nine years later was used with a multidimensional assessment of participation and personal and environmental factors. Based on theoretical models, multiple linear regressions were used. Results One hundred and fourteen adults with DM1 were included in the study (63.2% women; 78.9% adult onset; mean (SD) age of 43.5 (10.4) years). When age, sex, phenotype, and education were controlled for, participation restriction was predicted by a longer time to stand and walk, lower grip strength, higher body mass index, absence of perceived impact of myotonia in daily living, use of adapted transportation from community services, and perception of obstacle in physical environment (p < 0.001, adjusted R (2) = 0.50). Conclusions The majority of predictors of participation restriction can be advantageously modified by rehabilitation and environmental changes, such as politics targeting community services provision or physical environment and services accessibility.

Cet article met en lumière les défis de l’intégration et de la réussite scolaire des étudiants internationaux au sein des cégeps du Saguenay–Lac-Saint-Jean, une région à faible densité ethnoculturelle. Elle accueille ces étudiants depuis plus d’une dizaine d’années. Bien que présent, le phénomène de l’internationalisation de l’éducation dans les cégeps du Saguenay–Lac-Saint-Jean est très peu documenté. L’objectif principal du projet est de comprendre les défis de l’intégration et de la réussite scolaire qui jalonnent l’expérience des étudiants internationaux. Pour ce faire, 21 entrevues individuelles ont été menées auprès d’étudiants internationaux. Les résultats montrent que les étudiants ont une image généralement positive de leur cégep et de leurs enseignants. L’expérience migratoire est marquée par les différences entre le pays d’origine et le pays de migration pour études. Aux dires de ces étudiants, l’intégration n’est pas « un long fleuve tranquille ». Ils doivent faire preuve de persévérance afin de réussir leur projet d’études. Cet article apporte des contributions d’ordres pédagogique et social en mettant de l’avant l’importance du rôle des enseignants, des cégeps et de la communauté collégiale et civile dans l’intégration et la réussite scolaire des étudiants internationaux.

ObjectiveDaytime sleepiness and fatigue are prominent symptoms of myotonic dystrophy type I (DM1) that exact a heavy toll on patients' quality of life, but information is scarce on their predictive factors. This study aimed to determine factors that may influence levels of daytime sleepiness and fatigue in a large cohort of DM1 patients followed for 9 years.MethodsThis study included 115 patients with DM1 at baseline (Time 1, T1) and at Time 2 (T2) who were questioned for daytime sleepiness, fatigue, history of depression, psychological distress, pain, hypothyroidism, and sleep habits. Also, their muscular impairment and intellectual quotient were evaluated. Regression models were used to identify correlates of daytime sleepiness and fatigue while controlling for time effect.ResultsBoth daytime sleepiness and fatigue increased between T1 and T2, but their rate of change are higher when CTG repeat number is higher (p<0.05). Also, higher psychological distress level is associated with higher daytime sleepiness and fatigue levels both at T1 and T2 (p<0.01). Moreover, patients with a history of depression report higher daytime sleepiness levels both at T1 and T2 (p<0.05). In addition, patients with higher fatigue levels both at T1 and T2 have more severe muscular impairment (p<0.01) and report a longer habitual sleep duration (p<0.05). Finally, a higher BMI and a history of hypothyroidism predict higher daytime sleepiness levels at T2 (p<0.05).ConclusionThis study identified potentially modifiable risk factors of future daytime sleepiness and fatigue in DM1 patients, including BMI, psychological distress, hypothyroidism, and sleep habits.

This commentary is on the original article by Eriksson et al. on pages 723–728 of this issue.