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Perceived Fatigue in Spinal Muscular Atrophy: A Pilot Study
Sally Dunaway Young1,2, Jacqueline Montes1,3, Samantha S Kramer1
1Department of Neurology, Columbia University Medical Center, New York, NY, USA.
Journal of Neuromuscular Diseases
|December 20, 2018
Summary
Perceived fatigue in spinal muscular atrophy (SMA) is common but doesn't correlate with physical function or fatigability. Further research should explore cognitive and psychological factors influencing fatigue in SMA patients.
Area of Science:
- Neurology
- Rehabilitation Medicine
- Patient-Reported Outcomes
Background:
- Fatigue is a prevalent symptom in spinal muscular atrophy (SMA).
- While fatigability is documented in ambulatory SMA, its link to perceived fatigue remains unevaluated.
- Understanding fatigue in SMA is crucial for improving patient care.
Purpose of the Study:
- To investigate the association between perceived fatigue and objective measures of fatigability, functional status, and quality of life in individuals with SMA.
- To explore the influence of demographic and clinical factors (age, SMA type, ambulatory status) on perceived fatigue.
Main Methods:
- A cohort of 32 participants with SMA (predominantly Type 3) was assessed.
- Standardized questionnaires and functional assessments were employed to measure perceived fatigue, fatigability, function, and quality of life.
- Pearson correlation coefficients were used to analyze associations, with significance set at p < 0.05.
Main Results:
- All participants with SMA reported experiencing fatigue.
- Perceived fatigue did not show a significant correlation with measures of function, quality of life, or physical fatigability in ambulatory SMA patients.
- Demographic and clinical factors, including age, SMA type, and ambulatory status, did not significantly impact perceived fatigue levels.
Conclusions:
- Perceived fatigue is a quantifiable outcome in SMA.
- The lack of correlation between perceived fatigue and fatigability/function suggests that non-physical factors (e.g., cognitive, homeostatic, psychological) may play a significant role.
- Future clinical trials for SMA should prioritize patient-reported outcomes for fatigue and adopt a multifaceted approach to understand its underlying mechanisms.
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