Delays in diagnosis of Duchenne muscular dystrophy: An evaluation of genotypic and sociodemographic factors

Counterman, Kevin J.; Furlong, Pat; Wang, Richard T.; Martin, Ann

doi:10.1002/mus.26720

Cited by 21 publications

(20 citation statements)

References 42 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Our own survey results testify to the bene ts of such standardized management, with all respondents having visited a specialized neuromuscular center for at least one visit. The mean age at diagnosis in this survey was 4.3 years, which is similar to the mean age at diagnosis of 4.43 years reported by the US-based Parent Project Muscular Dystrophy (5) and much younger than the mean age at diagnosis of 7 years in Thailand (6). The percentage of ≥5-year-old patients using corticosteroids was 71.3%, which exceeds the gure of 46.4% reported for ≥5-year-old patients in the United States (7) and the gure of 49.7% reported in the global TREAT-NMD DMD database (8).…”

Section: Discussionsupporting

confidence: 78%

Influence of A Public Health Emergency On Care For Patients With Duchenne Muscular Dystrophy: An Online, Cross-Sectional Survey

Zhang

Wang

Dong

et al. 2022

Preprint

View full text Add to dashboard Cite

Background: The public health emergency has created challenges for the care of patients, particularly those with chronic diseases such as Duchenne muscular dystrophy. To elucidate the challenges faced by Chinese patients with Duchenne muscular dystrophy during the public health emergency coronavirus disease 2019 pandemic, we conducted an online cross-sectional survey, the responses of which were collected between March 27 and June 30, 2021. Results: In total, valid questionnaire responses were obtained from 2,105 patients, of whom 49 lived in pandemic lockdown areas. Of the 2,056 responders from non-lockdown areas, 42.8% reduced their outside daily activities, 49.4% reduced their use of rehabilitation services, 39.7% postponed regular follow-up appointments, and 40.8% complained of accelerated declines in motor function over the previous year. The corresponding figures for the 49 participants from lockdown areas were almost all higher, with 67.3% reducing outside daily activities, 44.9% reducing their use of rehabilitation services, 79.6% postponing regular follow-up appointments, and 55.1% complaining of accelerated declines in motor function. When asked whether they expected more assistance from society than they had received before the pandemic, 60.8% of patients in non-lockdown areas and 87.8% of those in lockdown areas responded affirmatively. When asked whether they felt more anxious than they had before the pandemic and needed psychological counseling, 11.5% of respondents in non-lockdown areas and 18.4% of respondents in lockdown areas responded affirmatively. In non-lockdown areas, 76% of respondents had at least one telemedicine visit, and 71% of them thought that telemedicine was helpful. In lockdown areas, 91.8% had used telemedicine at least once, and 66.7% of them found it helpful.Conclusions: These public health emergency control measures have affected the care of patients with chronic diseases worldwide, particularly pronounced in lockdown areas. It is imperative that healthcare workers assist patients and establish more robust chronic disease management systems. Telemedicine is an effective model for providing healthcare to such patients.

show abstract

Section: Discussionsupporting

confidence: 78%

Influence of A Public Health Emergency On Care For Patients With Duchenne Muscular Dystrophy: An Online, Cross-Sectional Survey

Zhang

Wang

Dong

et al. 2022

Preprint

View full text Add to dashboard Cite

show abstract

“…DMD is devastating muscle disease with an early onset. However, due to a 1.3-2.5 year delay in clinical diagnosis after the appearance of first symptoms, the mean age at diagnosis of DMD patients is 4.4 years [25][26][27] . Since early treatment is recommended [16][17][18] , reducing the delay before diagnosis might be aided via the inclusion of DMD in newborn screening performed under existing public health screening protocols.…”

Section: Discussionmentioning

confidence: 99%

Newborn screening of duchenne muscular dystrophy specifically targeting deletions amenable to exon-skipping therapy

Beckers

Caberg

Dideberg

et al. 2021

Sci Rep

View full text Add to dashboard Cite

Duchenne Muscular Dystrophy (DMD) is a lethal progressive muscle-wasting disease. New treatment strategies relying on DMD gene exon-skipping therapy have recently been approved and about 30% of patients could be amenable to exon 51, 53 or 45 skipping. We evaluated the spectrum of deletions reported in DMD registries, and designed a method to screen newborns and identify DMD deletions amenable to exon 51, 53 and 45 skipping. We developed a multiplex qPCR assay identifying hemi(homo)-zygotic deletions of the flanking exons of these therapeutic targets in DMD exons (i.e. exons 44, 46, 50, 52 and 54). We conducted an evaluation of our new method in 51 male patients with a DMD phenotype, 50 female carriers of a DMD deletion and 19 controls. Studies were performed on dried blood spots with patient’s consent. We analyzed qPCR amplification curves of controls, carriers, and DMD patients to discern the presence or the absence of the target exons. Analysis of the exons flanking the exon-skipping targets permitted the identification of patients that could benefit from exon-skipping. All samples were correctly genotyped, with either presence or absence of amplification of the target exon. This proof-of-concept study demonstrates that this new assay is a highly sensitive method to identify DMD patients carrying deletions that are rescuable by exon-skipping treatment. The method is easily scalable to population-based screening. This targeted screening approach could address the new management paradigm in DMD, and could help to optimize the beneficial therapeutic effect of DMD therapies by permitting pre-symptomatic care.

show abstract

“…We do not have sufficient information available to test or make conclusions on the reasons why prevalence declined among Hispanics. We can speculate that possible contributing factors may include changes in demographics among the Hispanic population in the USA and across the MD STAR net participating states [34, 35] or delayed diagnosis among Hispanics [36, 37]. Another possibility is purely random variation; while the trend for decline in prevalence is statistically significant ( p = 0.0056), purely random variation is within the realm of reasonable possibility.…”

Section: Discussionmentioning

confidence: 99%

Duchenne and Becker Muscular Dystrophies’ Prevalence in MD STARnet Surveillance Sites: An Examination of Racial and Ethnic Differences

et al. 2021

View full text Add to dashboard Cite

Introduction: Previous studies indicated variability in the prevalence of Duchenne and Becker muscular dystrophies (DBMD) by racial/ethnic groups. The Centers for Disease Control and Prevention’s (CDC) Muscular Dystrophy Surveillance, Tracking, and Research network (MD STARnet) conducts muscular dystrophy surveillance in multiple geographic areas of the USA and continues to enroll new cases. This provides an opportunity to continue investigating differences in DBMD prevalence by race and ethnicity and to compare the impact of using varying approaches for estimating prevalence. Objective: To estimate overall and race/ethnicity-specific prevalence of DBMD among males aged 5–9 years and compare the performance of three prevalence estimation methods. Methods: The overall and race/ethnicity-specific 5-year period prevalence rates were estimated with MD STARnet data using three methods. Method 1 used the median of 5-year prevalence, and methods 2 and 3 calculated prevalence directly with different birth cohorts. To compare prevalence between racial/ethnic groups, Poisson modeling was used to estimate prevalence ratios (PRs) with non-Hispanic (NH) whites as the referent group. Comparison between methods was also conducted. Results: In the final population-based sample of 1,164 DBMD males, the overall 5-year prevalence for DBMD among 5–9 years of age ranged from 1.92 to 2.48 per 10,000 males, 0.74–1.26 for NH blacks, 1.78–2.26 for NH whites, 2.24–4.02 for Hispanics, and 0.61–1.83 for NH American Indian or Alaska Native and Asian or Native Hawaiian or Pacific Islander (AIAN/API). The PRs for NH blacks/NH whites, Hispanics/NH whites, and NH AIAN/API/NH whites were 0.46 (95% CI: 0.36–0.59), 1.37 (1.17–1.61), and 0.61 (0.40–0.93), respectively. Conclusions: In males aged 5–9 years, compared to the prevalence of DBMD in NH whites, prevalence in NH blacks and NH AIAN/API was lower and higher in Hispanics. All methods produced similar prevalence estimates; however, method 1 produced narrower confidence intervals and method 2 produced fewer zero prevalence estimates than the other two methods.

show abstract

Delays in diagnosis of Duchenne muscular dystrophy: An evaluation of genotypic and sociodemographic factors

Cited by 21 publications

References 42 publications

Influence of A Public Health Emergency On Care For Patients With Duchenne Muscular Dystrophy: An Online, Cross-Sectional Survey

Influence of A Public Health Emergency On Care For Patients With Duchenne Muscular Dystrophy: An Online, Cross-Sectional Survey

Newborn screening of duchenne muscular dystrophy specifically targeting deletions amenable to exon-skipping therapy

Duchenne and Becker Muscular Dystrophies’ Prevalence in MD STAR<b><i>net</i></b> Surveillance Sites: An Examination of Racial and Ethnic Differences

Contact Info

Product

Resources

About