A qualitative study of perceptions of meaningful change in spinal muscular atrophy

McGraw, Sarah; Qian, Ying; Henne, Jeff; Jarecki, Jill; Hobby, Kenneth; Yeh, Wei-Chang

doi:10.1186/s12883-017-0853-y

Cited by 81 publications

(106 citation statements)

References 32 publications

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“…A secondary analysis using thematic (content) techniques was conducted on the data and incorporated both deductive, conceptdriven coding, and inductive, data-driven coding (Cho & Lee, 2014;Fereday & Muir-Cochrane, 2006;McGraw et al, 2017). For the deductive coding, a codebook was developed from the research literature.…”

Section: Discussionmentioning

confidence: 99%

Relational aspects of mastery for frail, older adults: The role of informal caregivers in the care process

Lambotte

Kardol

Schoenmakers

et al. 2018

Health Soc Care Community

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Frail, older care recipients are often thought of as individuals with a decreased mastery of everyday life skills. Various authors have proposed to acknowledge a relational dimension of mastery, defined as the ability to maintain control over one's life with the help of others. This study explores how frail, older adults experience relational aspects of mastery and the role of their informal caregivers in maintaining these aspects of mastery over the care process. Qualitative interviews (N = 121) were conducted in 2016 with potentially frail, community‐dwelling older adults participating in the Detection, Support and Care for Older people: Prevention and Empowerment (D‐SCOPE) project. A secondary analysis of 65 interviews reveals that, according to frail, older adults, informal caregivers contribute in various ways to the preservation of their mastery. This differs across the four elements of care: caring about (attentiveness), taking care of (responsibility), care‐giving (competence), and care‐receiving (responsiveness). However, in some cases, older adults experienced a loss of mastery; for example, when informal caregivers did not understand their care needs and did not involve them in the decision, organisation, and provision of care. A relational dimension of mastery needs to be acknowledged in frail, older care recipients since stimulating mastery is a crucial element for realising community care objectives and person‐centred and integrated care.

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Section: Discussionmentioning

confidence: 99%

Relational aspects of mastery for frail, older adults: The role of informal caregivers in the care process

Lambotte

Kardol

Schoenmakers

et al. 2018

Health Soc Care Community

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“…In addition, patients and caregivers considered a 1-point increase or even stabilisation as meaningful. [44,45] A patient remained in the response-based section of the model until the patient achieved a motor milestone uncharacteristic of patients with SMA type II (stands/walks with assistance). Once a patient has achieved the stands/walks with assistance milestone, the patient could either continue to achieve higher motor milestones (characteristic of SMA type III) or move to the loss of ambulation with/without assistance health state.…”

Section: Later-onset Spinal Muscular Atrophymentioning

confidence: 99%

Cost Effectiveness of Nusinersen in the Treatment of Patients with Infantile-Onset and Later-Onset Spinal Muscular Atrophy in Sweden

Zuluaga-Sanchez¹,

Teynor

Knight³

et al. 2019

PharmacoEconomics

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Background Spinal muscular atrophy is a rare neuromuscular disorder with a spectrum of severity related to age at onset and the number of SMN2 gene copies. Infantile-onset (≤ 6 months of age) is the most severe spinal muscular atrophy and is the leading monogenetic cause of infant mortality; patients with later-onset (> 6 months of age) spinal muscular atrophy can survive into adulthood. Nusinersen is a new treatment for spinal muscular atrophy. Objective The objective of this study was to evaluate the cost effectiveness of nusinersen for the treatment of patients with infantile-onset spinal muscular atrophy and later-onset spinal muscular atrophy in Sweden. Methods One Markov cohort health-state transition model was developed for each population. The infantile-onset and later-onset models were based on the efficacy results from the ENDEAR phase III trial and the CHERISH phase III trial, respectively. The cost effectiveness of nusinersen in both models was compared with standard of care in Sweden. Results For a time horizon of 40 years in the infantile-onset model and 80 years in the later-onset model, treatment with nusinersen resulted in 3.86 and 9.54 patient incremental quality-adjusted life-years and 0.02 and 2.39 caregiver incremental quality-adjusted life-years and an incremental cost of 21.9 and 38.0 million SEK (Swedish krona), respectively. These results translated into incremental cost-effectiveness ratios (including caregiver quality-adjusted life-years) of 5.64 million SEK (€551,300) and 3.19 million SEK (€311,800) per quality-adjusted life-year gained in the infantile-onset model and later-onset model, respectively. Conclusions Treatment with nusinersen resulted in overall survival and quality-adjusted life-year benefits but with incremental costs above 21 million SEK (€2 million) [mainly associated with maintenance treatment with nusinersen over a patient's lifespan]. Nusinersen was not cost effective when using a willingness-to-pay threshold of 2 million SEK (€195,600), which has been considered in a recent discussion by the Dental and Pharmaceutical Benefits Agency as a reasonable threshold for rare disease. Nonetheless, nusinersen gained reimbursement in Sweden in 2017 for paediatric patients (below 18 years old) with spinal muscular atrophy type I-IIIa.

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“…SMA is characterised by progressive loss of muscle strength and motor function with a large clinical variety ranging from severe hypotonia in the first months of life (type 1), stalled gross motor development but the ability to sit without support (type 2), difficulties with or the loss of ambulation later in life (type 3) to relatively mild impairments in adulthood (type 4) [2][3][4][5]. Fatigability, defined as the inability to sustain repetitive physical activities, is increasingly being recognized as an important additional dimension of physical impairments and a target for therapeutic interventions [6][7][8][9]. Research into the effect of both SMN-augmenting treatment strategies and pharmacological compounds specifically targeting skeletal muscle on fatigability is hampered by the lack of sensitive and clinically relevant outcome measures for the assessment of fatigability [10][11][12][13].…”

Section: Introductionmentioning

confidence: 99%

Fatigability in spinal muscular atrophy: validity and reliability of endurance shuttle tests

Bartels

Groot

Habets

et al. 2020

Orphanet J Rare Dis

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Background: To determine construct validity and test-retest reliability of Endurance Shuttle Tests as outcome measures for fatigability of remaining motor functions in children and adults with Spinal Muscular Atrophy (SMA) across the severity spectrum. Results: We assessed the Endurance Shuttle-Nine Hole Peg Test (ESNHPT), − Box and Block Test (ESBBT) and-Walk Test (ESWT) in 61 patients with SMA types 2-4, 25 healthy controls (HC) and 15 disease controls (DC). Convergent validity, discriminative validity and test-retest reliability were investigated. Additionally, we compiled the Endurance Shuttle Combined Score (ESTCS) by selecting the most relevant endurance test of each individual. 54, 70 and 73% of patients with SMA demonstrated increased fatigability on the ESNHPT, ESBBT and the ESWT. Endurance response in SMA was characterized by a decrease in muscle strength, an increase in muscle fatigue and an increase in motor adaptions, thereby confirming convergent validity. Patients with SMA showed increased drop-out rates and a shorter endurance time compared to HC and DC demonstrating good discriminative validity. Test-retest reliability was moderate to excellent (ICC's ranging from .78 to .91) with a trend towards better performance on retest. The ESTCS increased sample size and drop-out rate up to 100 and 85%. Conclusions: Fatigability is an important additional dimension of physical impairments across the severity spectrum in children and adults with SMA. The EST's are reliable and valid to document fatigability of walking, proximal-and distal arm function in SMA and thus are promising outcome measures for use in clinical trials.

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A qualitative study of perceptions of meaningful change in spinal muscular atrophy

Cited by 81 publications

References 32 publications

Relational aspects of mastery for frail, older adults: The role of informal caregivers in the care process

Relational aspects of mastery for frail, older adults: The role of informal caregivers in the care process

Cost Effectiveness of Nusinersen in the Treatment of Patients with Infantile-Onset and Later-Onset Spinal Muscular Atrophy in Sweden

Fatigability in spinal muscular atrophy: validity and reliability of endurance shuttle tests

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