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Table 3 Studies describing the lived experiences

From: Health, wellbeing and lived experiences of adults with SMA: a scoping systematic review

Reference/ countryStudy designSampleKey findingsQUALSYST scorea
Ho et al, 2016 [69]
Taiwan
Qualitative study
Purposive sampling of cross-sectional cohort
Adults (Age = 25–54 years, mean 34.4)
N = 9, (2 SMA II; 7 SMA III)
Mandarin/Taiwanese speaking
Experienced a loss of control from declining muscular strength and independence. Utilised assistive devices and environmental manipulation to maximise function. Transcended limitations through striving to maximise independence and continue achieving key financial, educational and relational goals.0.9
Lamb & Peden, 2008 [70]
USA
Qualitative study
Recruitment through patient support group
Adults (Age = 26+ years)
N = 11 (4 SMA II; 7 SMA III)
English speaking
People with SMA utilised creative and innovative methods for overcoming physical challenges. Maintaining strong relationships with family, friends and community and an optimistic life view was important.0.8
Jeppesen et al., 2010 [68]
Denmark
Cross-sectional mixed methods design, semi-structured survey with narrative inquiryAdults ≥ 18 years
N = 29 (All SMA II)
People with SMA faced multiple difficulties but managed to achieve large landmark “goals/achievements”; are in a state of striving to maintain optimism in spite of constant stressors.0.79/0.75
Hunter et al., 2016 [67]
USA
Qualitative study
Purposive sampling
Adults (Age = 18–69 years, mean = 34)
N = 15 (5 SMA II; 10 SMA III)
Most concerning issues included personal hygiene, dressing, walking and independence. Social and emotional issues included mainstreaming into society and self-confidence.0.65
Qian et al., 2015 [116]
USA
Qualitative study
Purposive sampling
Children and adults with SMA (Age = 8–46 years, 33% were > 18 years). N = 21 (1 SMA I; 8 SMA II; 12 SMA III)
Parents of people with SMA (N = 64)
SMA left a constant psychological threat of disease progression and premature death. High level of burden included social limitations, difficulties achieving independence, and financial pressures.0.82
Rouault et al., 2017 [60]
Countries across Europe
Cross-sectional survey
Purposive sampling
People with SMA (n = 436; 2–65 years; 52% ≥ 19 years);
Parents of people with SMA (n = 370);
Other or unknown(N = 16)
Activities with the biggest impact on QoL were: ‘using the rest-room independently’, ‘self-feeding’, ‘turning in bed’, ‘washing’ and ‘transferring independently’.0.87
Kruitwagen-van Reenen et al., 2018 [111]
The Netherlands
Cross-sectional surveys
Recruitment through patient support groups and clinics.
Adults with SMA (20–70 years); n = 62 (4 SMA I; 21 SMA II; 13 SMA IIIa; 20 SMA IIIb; 4 SMA IV)People with early onset SMA experience more participation restrictions but similar levels of satisfaction compared with people with later onset SMA. Motor skills, feelings of depression and fatigue are correlates of participation in daily life.0.93
Mongiovi et al., 2018 [27]
34 countries world-wide
Cross-sectional study
Recruitment through the International SMA Patient Registry
Adults with SMA (18–81 years); n = 359 (16 SMA I; 132 SMA II; 144 SMA type III; 30 SMA IV; 34 unknown)Limitations with mobility or walking, inability to do activities, weakness, and fatigue. Limitations with mobility had the greatest impact on the lives of adults with SMA.0.87
Wan et al., 2019 [117]
Australia
Qualitative study
Purposive sampling
Adults and adolescents with SMA, parents and partners of people with SMA; n = 25 (19 people with SMA, 5 parents, 1 partner)Participants report widespread unmet physical and mental healthcare needs, disengagement from adult healthcare services, as well as pride in resilience, personal accomplishments and social relationships.0.93
  1. Abbreviations QoL Quality of Life,
  2. a Independently rated by at least two of the study authors using the QUALSYST assessment tool with higher scores indicating lower risk of bias and thus greater methodological rigour (> 0.8 = ‘Strong’, 0.71–.0.79 = ‘Good’, 0.50–0.70 = ‘Adequate’; < 0.50 = ‘Limited’). For mixed methods studies, quantitative and qualitative components were assessed separately, and two summary scores were calculated (quantitative/qualitative)