Social participation of adult patients with spinal muscular atrophy: Frequency, restrictions, satisfaction, and correlates

Reenen, Esther T. Kruitwagen-van; Pol, Ludo van der; Schröder, Carin D.; Wadman, Renske I.; Berg, Leonard H van den; Visser-Meily, Johanna M A; Post, Marcel W M

doi:10.1002/mus.26201

Cited by 24 publications

(30 citation statements)

References 45 publications

(81 reference statements)

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Subjective feelings of depression and anxiety were low in adults with SMA [112], yet correlated with feelings of fatigue [111]. Three of the 19 studies found an association between less severe physical limitations, for example ambulation, and more emotional distress [105,111,113]. Perceptions of fatigue were universal and not associated with physical function, health related quality of life or fatigability in another study [115].…”

Section: Psychosocial Wellbeingmentioning

confidence: 95%

“…Compared to published healthy agematched reference populations, ratings of health-related quality of life in the mental domain were higher or similar [104,105,108], and ratings of psychological wellbeing, self-esteem, satisfaction with life and emotional functioning were similar. Subjective feelings of depression and anxiety were low in adults with SMA [112], yet correlated with feelings of fatigue [111]. Three of the 19 studies found an association between less severe physical limitations, for example ambulation, and more emotional distress [105,111,113].…”

Section: Psychosocial Wellbeingmentioning

confidence: 98%

“…Devices which improved independence, such as power wheelchairs and upper or lower limb orthoses, were highly valued [66]. Frequency and severity of bodily pain was measured in three questionnaires: in two customized surveys prevalence was 50-70% and rated as having a mild to moderate effect on life, compared to two studies using validated the short form health survey that reported no difference in bodily pain scores against the general population [27,106,110,111]. Bodily pain was moderately associated with global ratings of life satisfaction [110].…”

Section: Physical Symptoms and Functionmentioning

confidence: 99%

“…Mental health and psychosocial functioning were measured in adults with SMA in 9 studies (5 undertaken in The Netherlands) using 10 different validated patient report measures (e.g. Short form Health Survey, RAND 36, NMS Quest) and two customized surveys) [27,104,105,108,[111][112][113][114]. Compared to published healthy agematched reference populations, ratings of health-related quality of life in the mental domain were higher or similar [104,105,108], and ratings of psychological wellbeing, self-esteem, satisfaction with life and emotional functioning were similar.…”

Section: Psychosocial Wellbeingmentioning

confidence: 99%

See 3 more Smart Citations

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

Wan

Carey

D’Silva

et al. 2020

Orphanet J Rare Dis

View full text Add to dashboard Cite

Background: Spinal muscular atrophy (SMA) is a neurodegenerative disease that has a substantial and multifaceted burden on affected adults. While advances in supportive care and therapies are rapidly reshaping the therapeutic environment, these efforts have largely centered on pediatric populations. Understanding the natural history, care pathways, and patient-reported outcomes associated with SMA in adulthood is critical to advancing health policy, practice and research across the disease spectrum. The aim of this study was to systematically review research investigating the healthcare, well-being and lived experiences of adults with SMA. Methods: In accordance with the Preferred Reported Items for Systematic Reviews and Meta-Analysis guidelines, seven electronic databases were systematically searched until January 2020 for studies examining clinical (physical health, natural history, treatment) and patient-reported (symptoms, physical function, mental health, quality of life, lived experiences) outcomes in adults with SMA. Study risk of bias and the level of evidence were assessed using validated tools. Results: Ninety-five articles met eligibility criteria with clinical and methodological diversity observed across studies. A heterogeneous clinical spectrum with variability in natural history was evident in adults, yet slow declines in motor function were reported when observational periods extended beyond 2 years. There remains no high quality evidence of an efficacious drug treatment for adults. Limitations in mobility and daily activities associated with deteriorating physical health were commonly reported, alongside emotional difficulties, fatigue and a perceived lack of societal support, however there was no evidence regarding effective interventions. Conclusions: This systematic review identifies the many uncertainties regarding best clinical practice, treatment response, and long-term outcomes for adults with SMA. This comprehensive identification of the current gaps in knowledge is essential to guide future clinical research, best practice care, and advance health policy with the ultimate aim of reducing the burden associated with adult SMA.

show abstract

Section: Psychosocial Wellbeingmentioning

confidence: 95%

Section: Psychosocial Wellbeingmentioning

confidence: 98%

Section: Physical Symptoms and Functionmentioning

confidence: 99%

Section: Psychosocial Wellbeingmentioning

confidence: 99%

See 2 more Smart Citations

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

Wan

Carey

D’Silva

et al. 2020

Orphanet J Rare Dis

View full text Add to dashboard Cite

show abstract

“…(10,11,13) In addition to impairment on quality of life and social participation among patients with SMA, SMA was associated with reduced caregiver quality of life, which was related to patient burden, impaired psychosocial well-being, and loss of caregiver's productivity. (14)(15)(16) Despite the progress in SMA treatment with two important landmark treatments (approved by the Food and Drug Administration [FDA]), the disease burden and related unmet need remains signi cant for many patients with SMA and their caregivers. (5) Spinraza® (nusinersen) is a disease-modifying treatment approved for all patients with SMA and is administered via intrathecal (IT) injection every 4 months after a series of loading doses.…”

Section: Introductionmentioning

confidence: 99%

Treatment Preference Among Patients With Spinal Muscular Atrophy (SMA): A Discrete Choice Experiment

Monnette

Er²,

Hong

et al. 2020

Preprint

View full text Add to dashboard Cite

OBJECTIVE: To examine patient/caregiver preference for key attributes of treatments for spinal muscular atrophy (SMA). BACKGROUND: In the rapidly evolving SMA treatment landscape, it is critically important to understand how attributes of potential treatments may impact patient/caregiver choices.DESIGN/METHODS: A discrete choice experiment survey was developed based on qualitative interviews. Patients with SMA (18 years) and caregivers of patients were recruited through a U.S. patient organization. Respondents made choices in each of 12 sets of hypothetical treatments. The relative importance of five treatment characteristics was compared (measured by regression coefficients [RC] of conditional logit models): (1) improvement or stabilization of motor function, (2) improvement or stabilization of breathing function, (3) indication for all ages or pediatric patients only, (4) route of administration (repeated intrathecal [IT] injections, one-time intravenous [IV] infusion, daily oral delivery) and (5) potential harm (mild, moderate, serious/life threatening).RESULTS: Patient ages ranged from less than 1 to 67 years (n=101, 65 self-reported and 36 caregiver-reported) and 64 were female. Total SMA subtypes included: type 1 (n=21), type 2 (n=48), type 3 (n=29), other (n=3). Prior spinal surgery was reported in 47 patients. Nusinersen and onasemnogene abeparvovec-xioi use were reported in 59 and 10 patients, respectively. Improvement in motor and breathing function was highly valued (RC: 0.65, 95% confidence interval [CI]: 0.47–0.83 and RC: 0.79, 95% CI: 0.60–0.98, respectively). Oral medication and one-time infusion were strongly preferred over repeated IT injections (RC: 0.80, 95% CI: 0.60–0.98 and RC: 0.51, 95% CI: 0.30–0.73, respectively). Patients least preferred an age-restricted label/approved use ( 2 years of age) (RC: -1.28, 95% CI: -1.47 to -1.09). Cross-attributes trade-off decision suggested a lower willingness for a high-risk therapy despite additional efficacy gain. For some patients, there may be willingness to trade off additional gains in efficacy for a change in route of administration from repeated intrathecal administration to oral medication.CONCLUSIONS: Improvements in motor/breathing function, broad indication, oral or one-time infusion, and minimal risk were preferred treatment attributes. Treatment decisions should be made in clinical context and be tailored to patient needs.

show abstract

Mental health in adults living with arthrogryposis multiplex congenita

Sarveswaran

Sawatzky

2023

American J of Med Genetics Pt C

View full text Add to dashboard Cite

Little is known about the mental well‐being of adults living with arthrogryposis multiplex congenita (AMC). The objectives of this study were to determine the incidence of depression in an international population of adults with AMC and to identify variables independently associated with depression. This cross‐sectional study used independent samples t‐test and hierarchical multiple regression. The mean Hospital Anxiety and Depression Scale—depression (HADS‐D) score of our sample, which included 60 adults with AMC, was 4.0 ± 3.6, with 19% having some signs of depression. Occupation status, age, sex, physical independence, environmental factors, anxiety, and fatigue explained 52.2% of the variance in HADS‐D. The prevalence of depression in an adult sample of individuals with AMC is similar to that of the general adult population in the United States. Beyond direct interventions to ameliorate depression, rehabilitation clinicians may also consider treatments and interventions to decrease anxiety and reduce fatigue and environmental barriers.

show abstract

Social participation of adult patients with spinal muscular atrophy: Frequency, restrictions, satisfaction, and correlates

Abstract: Motor skills, feelings of depression and fatigue are correlates of participation in daily life. This knowledge can be used to optimize care for SMA patients. Muscle Nerve, 2018.

Cited by 24 publications

References 45 publications

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

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

Treatment Preference Among Patients With Spinal Muscular Atrophy (SMA): A Discrete Choice Experiment

Mental health in adults living with arthrogryposis multiplex congenita

Contact Info

Product

Resources

About