Search

BACKGROUND: Myotonic dystrophy type 1 (DM1) is an autosomal dominant disorder that results from a CTG trinucleotide repeat in the DMPK gene. Congenital myotonic dystrophy (CDM) is the most severe form of DM1, and patients with CDM are reported to have reduced health-related quality of life (HRQoL). However, the relationship between disease manifestations in CDM and HRQoL has not been well-characterized. Most studies assessing HRQoL have focused on adult-onset DM1, showing that excessive daytime sleepiness, fatigue, cognitive deficits, and muscle weakness negatively impact HRQoL.

Background: To attain the most comprehensive view of the quality of life (QoL) of a child with Duchenne Muscular Dystrophy (DMD), the completion of a pediatric QoL measure by the child and his/her parent and the assessment of QoL and health-related quality of life (HRQoL) as separate constructs is crucial. Previous QoL research has not assessed HRQoL as a separate construct. By using the Quality of My Life (QoML) questionnaire, our objective was to describe QoL and HRQoL in boys with DMD based on child-and parent-reports. Methods: Parent and child dyads identified via the Canadian Neuromuscular Disease Registry received QoML questionnaires (2013-2016). Children and parent-proxy each completed the QoL and HRQoL Visual Analog Scales. Responses were marked on a 10-cm line, with higher scores (max=10) reflecting higher QoL and HRQoL. Descriptive statistics were computed for child- and parent-reports of QoL and HRQoL at three time-points. Results: Mean(SD) QoL and HRQoL scores for child- and parent-reports were: 1) Baseline (n=20 dyads), 8.32(1.72) vs. 6.73(2.23) and 7.63(2.51) vs. 6.73(2.19); 2)18-months (n=10 dyads, n=9 dyads), 7.83(2.05) vs 7.66(1.66) and 7.62(2.41) vs 7.41(2.16); 3) 36-months (n=15 dyads) 7.38(2.00) vs. 6.99(1.77) and 7.19(2.70) vs. 6.76(2.26). Conclusions: Boys with DMD report higher QoL and HRQoL compared to their parents.

Background: Fatigue is frequent and disabling in adults with neuromuscular disorders, but not well characterized in paediatric neuromuscular disorders. Recently, fatigue was reported to be associated with poor health-related quality of life in children with Duchenne muscular dystrophy (DMD). Determinants of fatigue—a modifiable symptom—have not been studied in DMD. Our objective was to explore risk factors for fatigue in children with DMD. Methods: Patients aged 4–17 years identified via the Canadian Neuromuscular Disease Registry received mailed questionnaires. Fatigue was assessed using the PedsQLTM Multidimensional Fatigue Scale (patient- and parent-report). Standardized measures for depressive symptoms, sleep disturbances, functional ability and physical activity were used. Spearman’s correlations and Wilcoxon rank-sum tests were computed. Results: Of 194 eligible patients, 64 have responded to date. DMD patients reported greater fatigue than healthy controls from published data. Depressive symptoms were associated with greater fatigue, by patient-report (ρ=-0.44, Pρ=-0.40, P=0.002). Sleep disturbances were associated with greater fatigue, by patient-report (ρ=-0.41, P=0.007) and parent-report (ρ=-0.51, P<0.001). Greater functional ability was associated with less fatigue, by parent-report (ρ=0.30, P=0.02). Physical activity and ambulatory status were not associated with fatigue. Conclusions: Fatigue is a significant issue in DMD. Depressive symptoms and sleep disturbances are associated with fatigue, warranting attention in therapeutic strategies to reduce fatigue.

Background: Longitudinal data on health-related quality of life (HRQOL) and fatigue in paediatric Duchenne muscular dystrophy (DMD) are limited. Recently, fatigue was reported to be the greatest predictor of poor HRQOL in paediatric DMD. Understanding the trajectory of HRQOL and its relationship with fatigue may facilitate the development of improved therapeutic strategies. Our objective was to describe three-year changes in HRQOL and fatigue in children with DMD. Methods: Patients identified via the Canadian Neuromuscular Disease Registry received mailed questionnaires (2013–2016). HRQOL was assessed using the PedsQLTM GCS and NMM domains, and fatigue was assessed using the MFS domain (patient- and parent-report). Mean three-year change in scores were computed. Pearson correlations were computed between three-year change in HRQOL and fatigue. Results: Mean decline in MFS scores for patient- and parent-reports were 1.03 and 1.19, respectively. Mean decline in GCS scores for patient- and parent-report were 1.75 and 4.13, respectively. Mean change in NMM scores for patient- and parent-report were 0.72 and -8.36, respectively. Change in MFS score was associated with changes in GCS (r=0.72, pr=0.84, pConclusions: Children with DMD experience worse fatigue and HRQOL over time. Parents perceive a greater decline in HRQOL over time compared to patients.

Background: Fatigue was recently reported to be the largest contributor to poor health-related quality of life (HRQOL) in paediatric Duchenne muscular dystrophy (DMD). Additional studies are necessary to confirm the generalizability of this finding. Our objective was to explore the longitudinal relationship between fatigue and HRQOL in an additional cohort of DMD patients. Methods: We performed a secondary analysis of data from a clinical trial (NCT00592553), which enrolled patients with nonsense mutation DMD, aged 5–20 years, from 37 sites in 11 countries (N=174). Fatigue and HRQOL were assessed using the PedsQLTM Multidimensional Fatigue Scale and Generic Core Scales, respectively, by patient- and parent-report at baseline and over 48 weeks. Results: Patients reported greater fatigue than healthy controls from published data. There was no significant difference between patient- and parent-reported fatigue. Fatigue was significantly correlated with worse HRQOL at baseline, by patient-report (r=0.70, Pr=0.70, Pr=0.79, Prent-report (r=0.74, Pr=0.64, Pr=0.67, PConclusions: Fatigue is a major contributor to HRQOL in DMD. The strong association between fatigue and HRQOL corroborates previous studies, and suggests that reducing fatigue may improve HRQOL.

Background: Improved respiratory care of Duchenne muscular dystrophy (DMD) patients has unmasked cardiomyopathy as a major source of morbidity and mortality. There is currently no consensus regarding the management of DMD-associated cardiomyopathy (DMD-CM). The objective of this systematic review was to evaluate the efficacy of pharmacological therapies for prevention and management of DMD-CM, and determine the optimal timing to commence these interventions. Methods: A systematic search was conducted in October 2015 and updated in January 2016 using MEDLINE, EMBASE and CINAHL databases and 9 grey literature sources for studies evaluating the use of angiotensin-converting enzyme inhibitors (ACEi), angiotensin receptor blockers (ARB), beta-blockers (BB) or aldosterone antagonists (AA) in DMD patients. References of retrieved records were searched. Quality assessment was conducted using the Downs and Black Quality Assessment Checklist. PRISMA reporting guidelines were used. Results: The 11 included studies were of low methodological quality. However, the use of an ACEi, ARB, BB and AA tended to improve or preserve left ventricular systolic function and delay the progression of cardiomyopathy. Conclusions: While there is evidence supporting the use of heart failure medication in patients with DMD-CM, data regarding these interventions for delaying the onset of DMD-CM and when to initiate therapy is lacking.