Physical fatigue and perceived fatigability in adolescents and adults with spinal muscular atrophy: A pilot study

Domine, M.C.; Cattinari, Maria Grazia; Lemus, Mencía de; Castellano, Inmaculada Pitarch; Ñungo-Garzón, N.C.; Sevilla-Mantecón, Teresa; Vázquez-Costa, J.F.

doi:10.1016/j.neurop.2022.06.008

Cited by 2 publications

(6 citation statements)

References 29 publications

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“…Perceived fatigability scores were similar in the three age groups, suggesting that fatigability is not related to aging or disease duration. Remarkably, perceived fatigability scores strongly worsened with disease severity, suggesting that they are actually related to motor neuron reserve, in line with previous studies [ 37 , 38 ]. Breathing and voice and vulnerability scores were higher in the group of patients aged 0–7 years than in the other age groups, indicating a higher impact in younger patients.…”

Section: Discussionsupporting

confidence: 90%

Validation of a Set of Instruments to Assess Patient- and Caregiver-Oriented Measurements in Spinal Muscular Atrophy: Results of the SMA-TOOL Study

et al. 2022

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Introduction Outcome measures traditionally used in spinal muscular atrophy (SMA) clinical trials are inadequate to assess the full range of disease severity. The aim of this study was to assess the psychometric properties of a set of existing questionnaires and new items, gathering information on the impact of SMA from the patient and caregiver perspectives. Methods This was a multicenter, prospective, noninterventional study including patients with a confirmed diagnosis of 5q-autosomal-recessive SMA aged 8 years and above, or their parents (if aged between 2 and 8 years). The set of outcome measurements included the SMA Independence Scale (SMAIS) patient and caregiver versions, the Neuro-QoL Fatigue Computer Adaptive Test (CAT), the Neuro-QoL Pain Short Form—Pediatric Pain, the PROMIS adult Pain Interference CAT, and new items developed by Fundación Atrofia Muscular España: perceived fatigability, breathing and voice, sleep and rest, and vulnerability. Reliability, construct validity, discriminant validity, and sensitivity to change (4 months from baseline) were measured. Results A total of 113 patients were included (59.3% 2–17 years old, 59.3% male, and 50.4% with SMA type II). Patients required moderate assistance [mean patient and caregiver SMAIS (SD) scores were 31.1 (12.8) and 7.6 (11.1), respectively]. Perceived fatigability was the most impacted domain, followed by vulnerability. Cronbach’s alpha coefficient for perceived fatigability, breathing and voice, and vulnerability total scores were 0.92, 0.88, and 0.85, respectively. The exploratory factor analysis identified the main factors considered in the design, except in the sleep and rest domain. All questionnaires were able to discriminate between the Clinical Global Impression—Severity scores and SMA types. Sensitivity to change was only found for the SMAIS caregiver version and vulnerability items. Conclusions This set of outcome measures showed adequate reliability, construct validity, and discriminant validity and may constitute a valuable option to measure symptom severity in patients with SMA. Supplementary Information The online version contains supplementary material available at 10.1007/s40120-022-00411-2.

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Section: Discussionsupporting

confidence: 90%

Validation of a Set of Instruments to Assess Patient- and Caregiver-Oriented Measurements in Spinal Muscular Atrophy: Results of the SMA-TOOL Study

et al. 2022

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“…Additional constructs related to individual fatigue dimensions are captured by some scales, including severity of fatigue, consequences of fatigue symptomatology, and impact on function (Table 1). Among these many scales, only the Fatigue Severity Scale (FSS), and, more recently, the Multidimensional Fatigue Inventory (MFI), the Spinal Muscular Atrophy Health Index (SMA-HI), PROfuture, and SMA-TOOL scales have been validated in SMA, to some degree [22,[37][38][39]. Other, non-SMA-specific scales have been used to assess perceived fatigue, including the PedsQL™ Multidimensional Fatigue Scale (PedsQL MFS) and the Patient-Reported Outcomes Measurement Information System Fatigue Short Form (PROMIS F-SF) questionnaire [13,[40][41][42].…”

Section: Dimensions Of Fatigue Studied In Smamentioning

confidence: 99%

“…As SMA is principally considered a condition affecting physical concepts (i.e., muscle weakness and atrophy, decreased exercise capacity), it is understandable that most fatigue PROMs have primarily focused on the physical dimension of fatigue and related constructs. Further, this physical fatigue dimension has been proposed to perhaps be the most responsive to available treatments [38]. Interestingly, some have reported that less affected individuals, such as those with more SMN2 copies, report greater fatigue [16,38].…”

Section: Physical Fatigue Dimensionmentioning

confidence: 99%

“…Further, this physical fatigue dimension has been proposed to perhaps be the most responsive to available treatments [38]. Interestingly, some have reported that less affected individuals, such as those with more SMN2 copies, report greater fatigue [16,38]. However, this should be scrutinized, as inquiries related to fatigue with currently used questionnaires are often focused on activities most pertinent to stronger patients or are generally too broad and based solely on functional abilities.…”

Section: Physical Fatigue Dimensionmentioning

confidence: 99%

“…The PROfuture is a recently developed questionnaire designed to assess "physical fatigue and perceived fatigability" in SMA [38]. Questions refer to the presence of fatigue symptoms during the past seven days.…”

Section: Profuturementioning

confidence: 99%

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Measuring Fatigue and Fatigability in Spinal Muscular Atrophy (SMA): Challenges and Opportunities

Rodriguez-Torres

Uher

Gay

et al. 2023

JCM

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Fatigue, a common symptom, together with the characteristic of performance fatigability, are well-documented features of SMA that impact quality of life and function. Importantly, establishing associations between multidimensional self-reported fatigue scales and patient performance has proven difficult. This review was conducted to evaluate the various patient-reported fatigue scales applied in SMA, with the objective of considering the limitations and advantages of each measure. Variable use of fatigue-related nomenclature, including conflicting terminology interpretation, has affected assessment of physical fatigue attributes, specifically perceived fatigability. This review encourages the development of original patient-reported scales to enable perceived fatigability assessment, providing a potential complementary method of evaluating treatment response.

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Physical fatigue and perceived fatigability in adolescents and adults with spinal muscular atrophy: A pilot study

Cited by 2 publications

References 29 publications

Validation of a Set of Instruments to Assess Patient- and Caregiver-Oriented Measurements in Spinal Muscular Atrophy: Results of the SMA-TOOL Study

Validation of a Set of Instruments to Assess Patient- and Caregiver-Oriented Measurements in Spinal Muscular Atrophy: Results of the SMA-TOOL Study

Measuring Fatigue and Fatigability in Spinal Muscular Atrophy (SMA): Challenges and Opportunities

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