Dataset Information

Quantifying the burden of caregiving in Duchenne muscular dystrophy.

ABSTRACT: Duchenne muscular dystrophy (DMD) is a rare pediatric neuromuscular disease associated with progressive muscle degeneration and extensive care needs. Our objective was to estimate the caregiver burden associated with DMD. We made cross-sectional assessments of caregiver health-related quality of life (HRQL) and burden using the EuroQol EQ-5D, a Visual Analogue Scale (VAS), the SF-12 Health Survey, and the Zarit Caregiver Burden Interview (ZBI) administered online. Results were stratified by disease stage (early/late ambulatory/non-ambulatory) and caregivers' rating of patients' health and mental status. In total, caregivers to 770 patients participated. Mean EQ-5D utility ranged between 0.85 (95 % CI 0.82-0.88) and 0.77 (0.74-0.80) across ambulatory classes and 0.88 (0.85-0.90) and 0.57 (0.39-0.74) across caregivers' rating of patients' health and mental status. Mean VAS score was 0.74 (0.73-0.75), mean SF-12 Mental Health Component Summary score 44 (43-45), and mean ZBI score 29 (28-30). Anxiety and depression, recorded in up to 70 % of caregivers depending on patients' health and mental status, was significantly associated with annual household cost burden (>$5000 vs. <$1000, odds ratio 1.76, 95 % CI 1.18-2.63) and hours of leisure time devoted to informal care per week (25-50 vs. <25 h 2.01, 1.37-2.94; >50 vs. <25 h 3.35, 2.32-4.83) (p < 0.007). We show that caring for a person with DMD can be associated with a substantial burden and impaired HRQL. Our findings suggest that caregivers to patients with DMD should be screened for depression and emphasize the need for a holistic approach to family mental health in the context of chronic childhood disease.

SUBMITTER: Landfeldt E

PROVIDER: S-EPMC4859858 | biostudies-other | 2016 May

REPOSITORIES: biostudies-other

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Quantifying the burden of caregiving in Duchenne muscular dystrophy.

Landfeldt Erik E Lindgren Peter P Bell Christopher F CF Guglieri Michela M Straub Volker V Lochmüller Hanns H Bushby Katharine K

Journal of neurology 20160310 5

Duchenne muscular dystrophy (DMD) is a rare pediatric neuromuscular disease associated with progressive muscle degeneration and extensive care needs. Our objective was to estimate the caregiver burden associated with DMD. We made cross-sectional assessments of caregiver health-related quality of life (HRQL) and burden using the EuroQol EQ-5D, a Visual Analogue Scale (VAS), the SF-12 Health Survey, and the Zarit Caregiver Burden Interview (ZBI) administered online. Results were stratified by dise ...[more]

PMID: 26964543

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Project description:Dystrophinopathies cover a spectrum of rare progressive X-linked muscle diseases, arising from DMD mutations. They are among the most common pediatric muscular dystrophies, being Duchenne muscular dystrophy (DMD) the most severe form. Despite the fact that there is still no cure for these serious diseases, unprecedented advances are being made for the development of therapies for DMD. Some of which are already conditionally approved: exon skipping and premature stop codon read-through. The present work aimed to characterize the mutational spectrum of DMD in an Argentinian cohort, to identify candidates for available pharmacogenetic treatments and finally, to conduct a comparative analysis of the Latin American (LA) frequencies of mutations amenable for available DMD therapies. We studied 400 patients with clinical diagnosis of dystrophinopathy, implementing a diagnostic molecular algorithm including: MLPA/PCR/Sanger/Exome and bioinformatics. We also performed a meta-analysis of LA's metrics for DMD available therapies. The employed algorithm resulted effective for the achievement of differential diagnosis, reaching a detection rate of 97%. Because of this, corticosteroid treatment was correctly indicated and validated in 371 patients with genetic confirmation of dystrophinopathy. Also, 20 were eligible for exon skipping of exon 51, 21 for exon 53, 12 for exon 45 and another 70 for premature stop codon read-through therapy. We determined that 87.5% of DMD patients will restore the reading frame with the skipping of only one exon. Regarding nonsense variants, UGA turned out to be the most frequent premature stop codon observed (47%). According to the meta-analysis, only four LA countries (Argentina, Brazil, Colombia and Mexico) provide the complete molecular algorithm for dystrophinopathies. We observed different relations among the available targets for exon skipping in the analyzed populations, but a more even proportion of nonsense variants (∼40%). In conclusion, this manuscript describes the theragnosis carried out in Argentinian dystrophinopathy patients. The implemented molecular algorithm proved to be efficient for the achievement of differential diagnosis, which plays a crucial role in patient management, determination of the standard of care and genetic counseling. Finally, this work contributes with the international efforts to characterize the frequencies and variants in LA, pillars of drug development and theragnosis.

Project description:BACKGROUND:Duchenne Muscular Dystrophy (DMD) is a rapidly progressive, lethal neuromuscular disorder, present from birth, which occurs almost exclusively in males. We have reviewed contemporary evidence of burden, epidemiology, illness costs and treatment patterns of DMD. This systematic review adhered to published methods with information also sought from the web and contacting registries. Searches were carried out from 2005 to June 2015. The population of interest was individuals with clearly defined DMD or their carers. RESULTS:Nine thousand eight hundred fifty titles were retrieved from searches. Fifty-eight studies were reviewed with three assessed as high, 33 as medium and 22 as low quality. We found two studies reporting birth and four reporting point prevalence, three reporting mortality, 41 reporting severity and/or progression, 18 reporting treatment patterns, 12 reporting quality of life, two reporting utility measures, three reporting costs of illness and three treatment guidelines. Birth prevalence ranged from 15.9 to 19.5 per 100,000 live births. Point prevalence per 100,000 males was for France, USA, UK and Canada, 10.9, 1.9, 2.2 and 6.1 respectively. A study of adult DMD patients at a centre in France found median survival for those born between 1970 and 1994 was 40.95 years compared to 25.77 years for those born between 1955 and 1969. Loss of ambulation occurred at a median age of 12 and ventilation starts at about 20 years. There was international variation in use of corticosteroids, scoliosis surgery, ventilation and physiotherapy. The economic cost of DMD climbs dramatically with disease progression - rising as much as 5.7 fold from the early ambulatory phase to the non-ambulatory phase in Germany. CONCLUSIONS:This is the first systematic review of treatment, progression, severity and quality of life in DMD. It also provides the most recent description of the burden, epidemiology, illness costs and treatment patterns in DMD. There are evidence gaps, particularly in prevalence and mortality. People with DMD seem to be living longer, possibly due to corticosteroid use, cardiac medical management and ventilation. Future research should incorporate registry data to improve comparability across time and between countries and to investigate the quality of life impact as the condition progresses.

Dataset Information

Quantifying the burden of caregiving in Duchenne muscular dystrophy.

Publications

Quantifying the burden of caregiving in Duchenne muscular dystrophy.

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