Evaluating Perceived Fatigue within an Adult Spinal Muscular Atrophy Population
Tóm tắt
Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease characterized by progressive muscle weakness and atrophy. While chronic fatigue is a common manifestation of SMA, the field lacks comprehensive data to assess the extent of its impact. Cure SMA, an SMA patient advocacy organization, conducted an online survey of its adults with SMA community members to measure the impact of fatigue. All survey respondents were asked to complete questions on demographics, use of SMA treatment, and quality of life, but respondents were randomized to receive three of the following fatigue instruments: the Modified Fatigue Impact Scale (MFIS), Multidimensional Fatigue Inventory (MFI), Fatigue Severity Scale (FSS), PedsQL™ Multidimensional Fatigue (PedsQL MF) Scale, and Spinal Muscular Atrophy Health Index (SMA-HI) fatigue modules. Scales were evaluated for reliability and overall fatigue scores were evaluated by multivariate regression models to determine which variables were related to the final scores of each instrument. A total of 253 adults completed the online survey. When measured against the general population, statistically significant differences were found among adults with SMA for certain variables within each measurement instrument. However, there did not appear to be differences in fatigue levels among key subgroups within the SMA population. This was the first use of more than two fatigue questionnaires simultaneously in SMA. The lack of a consistent relationship between SMA severity and fatigue levels was surprising. This may be related to the lack of specificity of the instruments for this population. An SMA-specific scale is needed to evaluate differences in fatigue impact across the SMA population.
Tài liệu tham khảo
Arnold WD, Kassar D, Kissel JT. Spinal muscular atrophy: diagnosis and management in a new therapeutic era. Muscle Nerve. 2015;51(2):157–67.
Kolb SJ, Kissel JT. Spinal muscular atrophy: a timely review. Arch Neurol. 2011;68(8):979–84.
Kolb SJ, Kissel JT. Spinal muscular atrophy. Neurol Clin. 2015;33(4):831–46.
Wirth B, et al. Mildly affected patients with spinal muscular atrophy are partially protected by an increased SMN2 copy number. Hum Genet. 2006;119(4):422–8.
Zerres K, Rudnik-Schoneborn S. Natural history in proximal spinal muscular atrophy. Clinical analysis of 445 patients and suggestions for a modification of existing classifications. Arch Neurol. 1995;52(5):518–23.
Zerres K, et al. A collaborative study on the natural history of childhood and juvenile onset proximal spinal muscular atrophy (type II and III SMA): 569 patients. J Neurol Sci. 1997;146(1):67–72.
Wirth B, et al. Quantitative analysis of survival motor neuron copies: identification of subtle SMN1 mutations in patients with spinal muscular atrophy, genotype-phenotype correlation, and implications for genetic counseling. Am J Hum Genet. 1999;64(5):1340–56.
Wang CH, et al. Consensus statement for standard of care in spinal muscular atrophy. J Child Neurol. 2007;22(8):1027–49.
Farrar MA, Kiernan MC. The genetics of spinal muscular atrophy: progress and challenges. Neurotherapeutics. 2015;12(2):290–302.
Wadman RI, et al. Association of motor milestones, SMN2 copy and outcome in spinal muscular atrophy types 0–4. J Neurol Neurosurg Psychiatry. 2017;88(4):365–7.
Finkel RS, et al. Observational study of spinal muscular atrophy type I and implications for clinical trials. Neurology. 2014;83(9):810–7.
Verhaart IEC, et al. Prevalence, incidence and carrier frequency of 5q-linked spinal muscular atrophy—a literature review. Orphanet J Rare Dis. 2017;12(1):124.
Lunn MR, Wang CH. Spinal muscular atrophy. Lancet. 2008;371(9630):2120–33.
Verhaart IEC, et al. A multi-source approach to determine SMA incidence and research ready population. J Neurol. 2017;264(7):1465–73.
Waldrop MA, Kolb SJ. Current treatment options in neurology-SMA therapeutics. Curr Treat Options Neurol. 2019;21(6):25.
Hoy SM. Onasemnogene abeparvovec: first global approval. Drugs. 2019;79(11):1255–62.
Artiga SHE. Beyond health care: the role of social determinants in promoting health and health equity. Kaiser Family Foundation; 2018.
Finkel RS, et al. Nusinersen versus sham control in infantile-onset spinal muscular atrophy. N Engl J Med. 2017;377(18):1723–32.
Wan HWY, et al. “Getting ready for the adult world”: how adults with spinal muscular atrophy perceive and experience healthcare, transition and well-being. Orphanet J Rare Dis. 2019;14(1):74.
Piepers S, et al. A natural history study of late onset spinal muscular atrophy types 3b and 4. J Neurol. 2008;255(9):1400–4.
de Groot IJ, de Witte LP. Physical complaints in ageing persons with spinal muscular atrophy. J Rehabil Med. 2005;37(4):258–62.
Dunaway Young S, et al. Perceived fatigue in spinal muscular atrophy: a pilot study. J Neuromuscul Dis. 2019;6(1):109–17.
Rodriguez-Torres RS, et al. Measuring fatigue and fatigability in spinal muscular atrophy (SMA): challenges and opportunities. J Clin Med. 2023;12(10):3458.
Kluger BM, Krupp LB, Enoka RM. Fatigue and fatigability in neurologic illnesses: proposal for a unified taxonomy. Neurology. 2013;80(4):409–16.
Bartels B, et al. Correlates of fatigability in patients with spinal muscular atrophy. Neurology. 2021;96(6):e845–52.
Cheng R, et al. Perceived exertion is not a substitute for fatiguability in spinal muscular atrophy. Muscle Nerve. 2023;68(1):81–84.
King W, et al. Six-minute walk test demonstrates motor fatigue in spinal muscular atrophy. Neurology. 2010;75(12):1121–2 (author reply 1122).
Krupp LB, Pollina DA. Mechanisms and management of fatigue in progressive neurological disorders. Curr Opin Neurol. 1996;9(6):456–60.
Noto Y, et al. Prominent fatigue in spinal muscular atrophy and spinal and bulbar muscular atrophy: evidence of activity-dependent conduction block. Clin Neurophysiol. 2013;124(9):1893–8.
Binz C, et al. Validity and reliability of the German multidimensional fatigue inventory in spinal muscular atrophy. Ann Clin Transl Neurol. 2022;9(3):351–62.
Vazquez-Costa JF, et al. Validation of a set of instruments to assess patient- and caregiver-oriented measurements in spinal muscular atrophy: results of the SMA-TOOL study. Neurol Ther. 2023;12(1):89–105.
Belter L, et al. An overview of the Cure SMA membership database: Highlights of key demographic and clinical characteristics of SMA members. J Neuromusc Dis. 2018;5(2):167–76.
Larson RD. Psychometric properties of the Modified Fatigue Impact Scale. Int J MS Care. 2013;15(1):15–20.
Lin JM, et al. Further validation of the Multidimensional Fatigue Inventory in a US adult population sample. Popul Health Metr. 2009;7:18.
Varni JW, et al. The PedsQL multidimensional fatigue scale in pediatric obesity: feasibility, reliability and validity. Int J Pediatr Obes. 2010;5(1):34–42.
Werlauff U, et al. Fatigue in patients with spinal muscular atrophy type II and congenital myopathies: evaluation of the fatigue severity scale. Qual Life Res. 2014;23(5):1479–88.
Strober LB, et al. Tired of not knowing what that fatigue score means? Normative data of the Modified Fatigue Impact Scale (MFIS). Mult Scler Relat Disord. 2020;46: 102576.
Dunaway S, et al. Perceived fatigue and physiological fatigue in spinal muscular atrophy (SMA): are they related? (P7117). Neurology. 2014;82(10 Supplement):P7.117.
Varni JW, Limbers CA. The PedsQL™ Multidimensional Fatigue Scale in young adults: feasibility, reliability and validity in a University student population. Qual Life Res. 2008;17(1):105–14.
Zizzi CE, et al. The Spinal Muscular Atrophy Health Index: a novel outcome for measuring how a patient feels and functions. Muscle Nerve. 2021;63(6):837–44.
Binz C, et al. An observational cohort study on impact, dimensions and outcome of perceived fatigue in adult 5q-spinal muscular atrophy patients receiving nusinersen treatment. J Neurol. 2021;268(3):950–62.