The Burden of Spinal Muscular Atrophy on Informal Caregivers

Abstract

Spinal muscular atrophy (SMA) is one of the most common severe hereditary diseases of infancy and early childhood. The progression of this illness causes a high degree of disability; hence, a significant burden is experienced by individuals with this disease and their families. We analyzed the time taken to care for patients suffering from SMA in European countries and the burden on their informal caregivers. We designed a cross-sectional study recording data from France, Germany, Spain and the United Kingdom. The primary caregivers completed a self-administered questionnaire that included questions about the time of care, The Zarit Burden Interview, type of SMA and socio-demographic characteristics. Multivariate analyses were used to study the associations between the type of SMA, time of care and burden supported by informal caregivers. The caregivers provided 10.0 h (SD = 6.7) per day of care (the principal caregivers provided 6.9 h, SD = 4.6). The informal caregivers of patients with type I SMA had a 36.3 point higher likelihood (p < 0.05) of providing more than 10 h of care per day in comparison with caregivers of patients with type III SMA. The severity of the disease was associated with more time of care and a higher burden on the caregivers.

Informal Caregiving in Amyotrophic Lateral Sclerosis (ALS): A High Caregiver Burden and Drastic Consequences on Caregivers’ Lives

“…Therefore, our results confirm the impact of the patient's functional status on her/his CG's burden. Compared to other neuromuscular disorders (NMD), we estimated a caregiver burden comparable to Duchenne muscular dystrophy in a study cohort from Germany, UK, Italy and the US (mean ZBI score = 29/88, n = 770) [73] and a lower burden compared to spinal muscular atrophy (mean = 31.9/88, n = 68) [74].…”

Systematic Literature Review to Assess the Cost and Resource Use Associated with Spinal Muscular Atrophy Management

“…The publications comprised data from 14 countries, including the USA (n = 20) [48-50, 53, 54, 56, 57, 60, 63, 70, 74, 77, 80, 84-86, 88, 91-93], UK (n = 5) [52,68,81,89,98], Italy (n = 2) [59,83], Australia (n = 2) [64,71], Canada (n = 1) [75], Germany (n = 1) [55], Croatia (n = 1) [87], Korea (n = 1) [65], Japan (n = 1) [66], France (n = 1) [79], Spain (n = 4) [58,72,73,78], Sweden (n = 1) [61], Russia (n = 2) [94,97] and Turkey (n = 1) [96]. Seven studies reported multi-national data [62,67,69,76,82,90,95].…”

“…The following study designs were adopted across the 49 unique studies: retrospective analyses (n = 35) [48, 50, 53-60, 63, 65, 66, 68, 70, 72-74, 77-93], cross-sectional analysis (n = 7) [52,69,71,75,76,95,96], cost analysis (n = 2) [94,97], exploratory qualitative analysis (n = 1) [64], prospective cohort study (n = 1) [62], economic evaluation (reporting original cost data; n = 1) [61], survey (n = 1) [98] and a symposium briefing report (n =1) [67]. Because of the heterogeneity between the different types of SMA, data were Fig.…”

“…b Covering 49 unique studies; two full publications and two conference abstracts were linked studies; both have been retained in the current report as they each report unique relevant data. EBM evidence-based medicine reviews, SLR systematic literature review frequently reported separately for individuals with Type 1 (n = 11) [48,54,57,63,65,66,68,81,84,91,93]; Types 1-3 SMA (n = 11; each type reported separately [52,55,58,59,67,69,71,75,76,96,98]; Type 3 SMA including subgroups (n = 1) [82]; and adult patients with SMA (n = 1) [74] or were reported for a mixed population of individuals with SMA: infantile-onset and other SMA (excluding Type 4 SMA; n = 1) [79]; infantile-onset (≤ 7 years) and later-onset (2-12 years) SMA (n = 1) [61]; Type 1 SMA and other SMA (including Type 4 SMA; n = 2) [50,97]; early-onset SMA (patients with Types 1, 2 and 3 SMA aged ≤ 3 years); and other SMA (later-onset Types 2 and 3 SMA in addition to Type 4 SMA) [n = 1] [60]-reported separately for infantile-onset, childhood-onset and juvenile-onset SMA (n = 1) [70]; reported separately for patients with infantile-onset, childhood-onset and late-onset SMA (n = 1) [77]; a mixed population with Types 1, 2 and 3 SMA (n = 1) [95]; a mixed population with Types 2 and 3 SMA (n = 1) [64]; a mixed population with Types 2 and 3 SMA including subgroups (n = 1) [62]; a mixed population with Types 2 and 3 and unreported SMA type (n = 1) [88]; a mixed population with Types 1, 2, 3 and 4 SMA (n = 1) [73]; and a mixed population with SMA in whi...…”

“…Substantial informal care costs have been reported for patients with Type 1 SMA as these patients require the highest level of care [55]. Two linked studies assessed the burden of SMA on informal caregivers across three countries in Europe [69,76]. Informal caregivers spent a daily average of 12.50 h, 10.65 h and 9.31 h in the UK, France and Germany, respectively, attending to a patient with SMA [76], and caregivers had a 3.63-point higher likelihood of spending > 10 h a day providing care if the patients had Type 1 SMA compared with Type 3 SMA [69].…”