Background: Natural history data are essential for trial design in Duchenne (DMD) and Becker muscular dystrophy (BMD), but recruitment for observational studies can be challenging. Objective: We reviewed reasons why patients or caregivers declined participation, and compared characteristics of participants and non-participants to assess possible selection bias in four observational studies, three on DMD and one on BMD. Methods: Three pediatric DMD studies focused on cross-sectional cognitive function and brain MRI (DMDbrain, n = 35 and DMDperfusion, n = 12), and on longitudinal upper extremity function and muscle MRI (DMDarm, n = 22). One adult BMD study assessed longitudinal functioning (n = 36). Considerations for non-participation were retrospectively reviewed from screening logs. Age, travel-time, DMD gene mutations and age at loss of ambulation (DMDarm and BMD study only), of participants and non-participants were derived from the Dutch Dystrophinopathy Database and compared using nonparametric tests (p < 0.05). Results: The perceived burden of the protocol (38.2%), use of MRI (30.4%), and travel-time to the study site (19.1%) were the most frequently reported considerations for non-participation. Only few patients reported lack of personal gain (0.0– 5.9%). Overall, participating patients were representative for the studied sub-populations, except for a younger age of DMDarm study participants and a complete lack of participants with a mutation beyond exon 63. Conclusion: Optimizing patient involvement in protocol design, improving MRI experiences, and integrating research into clinics are important factors to decrease burden and facilitate participation. Nationwide registries are essential to compare participants and non-participants and ensure representative observational research. Specific effort is needed to include patients with distal mutations in cognitive studies.
Duchenne muscular dystrophy (DMD) is a progressive muscle disease. No curative therapy is currently available, but in recent decades standards of care have improved. These improvements include the use of corticosteroids and mechanical ventilation.To present a detailed population based report of the DMD disease course in The Netherlands (1980-2006) and evaluate the effect of changes in care by comparing it with an historical Dutch DMD cohort (1961-1974).Information about DMD patients was gathered through the Dutch Dystrophinopathy Database using a standardized questionnaire and information from treating physicians.The study population involved 336 DMD patients (70% of the estimated prevalence), of whom 285 were still alive. Mean age at disease milestones was: diagnosis 4.3 years, wheelchair dependence 9.7 years, scoliosis surgery 14 years, cardiomyopathy (fractional shortening <27%) 15 years, mechanical ventilation 17 years and death 19 years. Within our cohort, corticosteroid use was associated with an increased age of wheelchair dependence from 9.8 to 11.6 years (p < 0.001). When comparing the recent cohort to the historical cohort, mean survival improved from 17 to 27 years (p < 0.001).The current study gives detailed information about the disease course of DMD patients, provides evidence for the positive effect of steroid treatment and mechanical ventilation and supports the use of patient registries as a valuable resource for evaluating improvements in care.
Abstract Purpose The aims of this study were, first, to determine the percentage of adolescents with chronic pain/fatigue successfully treated with rehabilitation treatment for chronic pain/fatigue and, second, to identify predictors for a successful rehabilitation treatment. Methods Treatment success is scored based on a combination of predefined clinically relevant changes in 4 outcome measures: level of pain/fatigue, school absence, physical functioning, and psychosocial functioning. A forward stepwise logistic regression analysis with treatment success as a dependent variable is performed to identify predictors for successful treatment. Results A total of 172 adolescents (mean age 16.2 [ SD = 2.5]; 85.5% girls) participated. Almost half (49.6%) of the adolescents had a successful treatment. The explained variance for the complete model explaining treatment success was 49% ( R 2 = 0.487). Patients with a higher level of pain/fatigue and a passive coping style pretreatment improved most, and these factors could thus be indicated as predictors for successful treatment. Also, gender significantly contributed to the prediction, in favor of boys. Conclusions Regarding the first aim, using predefined treatment success based on clinically relevant changes, half of the participants had a successful treatment. Concerning the second aim, adolescents with a high level of pain/fatigue and those with a high passive coping style pretreatment have a better ability to change their functioning during treatment. Boys benefit more than girls.
In the Netherlands ankle-foot orthoses (AFO), standing frames (SF), knee-ankle-foot orthoses (KAFO) and orthopaedic footwear are frequently prescribed for patients with Duchenne muscular dystrophy. Little is known, however, about the prescription pattern and the experience of patients. A questionnaire was sent to 25 rehabilitation physicians treating 53 patients with Duchenne muscular dystrophy. The use of orthoses and the patients' experience was measured during 1 year of follow-up. Our results show prescription of AFO 91 %, of SF 61% and of KAFO 22%. Indications were limited passive dorsiflexion and Vignos classification 6.1 Patient-related factors were reasons to discontinue or to refrain from using orthoses. The prescribed duration for KAFO varied greatly. Patients' experience scores for SF and KAFO were high. The time that the orthoses were worn differed greatly from the recommended time. Ready-made shoes were prescribed for equinovarus during ambulation. Similarly, ready-made shoes or custom-made shoes were advised for wheelchair-dependent patients. This study shows no uniform prescription pattern for AFO, SF, KAFO and orthopaedic footwear. The prescription pattern was influenced by patient-related factors and actual use greatly differed from the recommended time.
Data on the natural history of facioscapulohumeral dystrophy (FSHD) in childhood are limited and critical for improved patient care and clinical trial readiness. Our objective was to describe the disease course of FSHD in children.We performed a nationwide, single-center, prospective cohort study of FSHD in childhood assessing muscle functioning, imaging, and quality of life over 2 years of follow-up.We included 20 children with genetically confirmed FSHD who were 2 to 17 years of age. Overall, symptoms were slowly progressive, and the mean FSHD clinical score increased from 2.1 to 2.8 (p = 0.003). The rate of progression was highly variable. At baseline, 16 of 20 symptomatic children had facial weakness; after 2 years, facial weakness was observed in 19 of 20 children. Muscle strength did not change between baseline and follow-up. The most frequently and most severely affected muscles were the trapezius and deltoid. The functional exercise capacity, measured with the 6-minute walk test, improved. Systemic features were infrequent and nonprogressive. Weakness-associated complications such as lumbar hyperlordosis and dysarthria were common, and their prevalence increased during follow-up. Pain and fatigue were frequent complaints in children, and their prevalence also increased during follow-up. Muscle ultrasonography revealed a progressive increase in echogenicity.FSHD in childhood has a slowly progressive but variable course over 2 years of follow-up. The most promising outcome measures to detect progression were the FSHD clinical score and muscle ultrasonography. Despite this disease progression, an improvement on functional capacity may still occur as the child grows up. Pain, fatigue, and a decreased quality of life were common symptoms and need to be addressed in the management of childhood FSHD. Our data can be used to counsel patients and as baseline measures for treatment trials in childhood FSHD.
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