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.Electronic supplementary materialThe online version of this article (doi:10.1007/s00415-016-8080-9) contains supplementary material, which is available to authorized users.

Quality of Life and Psychosocial Well-Being in Youth With Neuromuscular Disorders Who Are Wheelchair Users: A Systematic Review

“…The two studies that specifically measured depression did not find clinically significantly symptoms, but four of their ten NIV users had previously sought help for psychological problems 50 . The interplay between family and individual mental health alluded to by Read et al 50 is confirmed in the recent publication by Landfeldt et al 63 , who found that individuals with DMD whose parents self-reported depression and anxiety were at higher risk of mental health issues. It is concerning that up to 70% of parents were recorded as experiencing anxiety and depression 63 .…”

“…The interplay between family and individual mental health alluded to by Read et al 50 is confirmed in the recent publication by Landfeldt et al 63 , who found that individuals with DMD whose parents self-reported depression and anxiety were at higher risk of mental health issues. It is concerning that up to 70% of parents were recorded as experiencing anxiety and depression 63 . Hence, whilst high emotional functioning scores in possibly emotionally well-supported populations indicate a resilience amongst youth with NMD 49,64 , more careful measurement of mental health and emotional wellbeing is needed to identify times of vulnerability both for themselves and their families.…”

Perceived economic burden associated with an inherited cardiac condition: a qualitative inquiry with families affected by arrhythmogenic right ventricular cardiomyopathy

“…25 Nonetheless, the review found a substantial economic burden of rare diseases, including both direct costs (e.g., treatment) and indirect costs-in particular, productivity losses incurred by informal caregivers. Similarly, a recent study 24 of the burden of Duchenne muscular dystrophy, an X-linked neuromuscular disorder, reported mean annual direct per-patient costs of between $23,000 and $55,000. This study also measured indirect and informal care costs, finding that they accounted for between 18 and 43% of total costs.…”

“…[24][25][26][27] Despite this, relatively little is known about their associated economic burden beyond direct medical costs. 24,25 However, a more comprehensive understanding of disease burden, including nonclinical burdens such as financial impact, is required to personalize disease management according to families' needs. 28 Identification of both direct and indirect costs associated with chronic genetic conditions is of further importance to policymakers in order to develop sustainable and patient-centered health policy options for families affected by rare diseases.…”

“…For example, economic burden data may assist in developing effective intervention programs, facilitate treatment evaluation, and potentially inform the development of financial support policies for patients and their families. [24][25][26] A recent systematic review of cost of illness evidence across 10 rare diseases (most of them genetic) reported that cost evidence was meager for all but two disorders: cystic fibrosis and hemophilia. 25 Nonetheless, the review found a substantial economic burden of rare diseases, including both direct costs (e.g., treatment) and indirect costs-in particular, productivity losses incurred by informal caregivers.…”