Experienced Fatigue in People with Rare Disorders: a Scoping Review on Characteristics of Existing Research

Overview

Journal Orphanet J Rare Dis

Publisher Biomed Central

Specialty General Medicine

Date 2022 Jan 11

PMID 35012596

Authors

Trine Bathen

Heidi Johansen

Hilde Stromme

Gry Velvin

Affiliations

Soon will be listed here.

Abstract

Background: Experienced fatigue is an under-recognized and under-researched feature in persons with many different rare diseases. A better overview of the characteristics of existing research on experienced fatigue in children and adults with rare diseases is needed. The purpose of this review was to map and describe characteristics of existing research on experienced fatigue in a selection of rare diseases in rare developmental defects or anomalies during embryogenesis and rare genetic diseases. Furthermore, to identify research gaps and point to research agendas.

Methods: We applied a scoping review methodology, and performed a systematic search in March 2020 in bibliographic databases. References were sorted and evaluated for inclusion using EndNote and Rayyan. Data were extracted on the main research questions concerning characteristics of research on experienced fatigue (definition and focus on fatigue, study populations, research questions investigated and methods used).

Results: This review included 215 articles on ten different rare developmental defects/anomalies during embryogenesis and 35 rare genetic diseases. Of the 215 articles, 82 had investigation of experienced fatigue as primary aim or outcome. Included were 9 secondary research articles (reviews) and 206 primary research articles. A minority of articles included children. There were large differences in the number of studies in different diseases. Only 29 of 215 articles gave a description of how they defined the concept of experienced fatigue. The most common research-question reported on was prevalence and/ -or associations to fatigue. The least common was diagnostics (development or validation of fatigue assessment methods for a specific patient group). A large variety of methods were used to investigate experienced fatigue, impeding comparisons both within and across diagnoses.

Conclusion: This scoping review on the characteristics of fatigue research in rare diseases found a large variety of research on experienced fatigue. However, the minority of studies had investigation of experienced fatigue as a primary aim. There was large variation in how experienced fatigue was defined and also in how it was measured, both within and across diagnoses. More research on experienced fatigue is needed, both in children and adults with rare diseases. This review offers a basis for further research.

Citing Articles

Fatigue in patients with syndromic heritable thoracic aortic disease: a systematic review of the literature and a qualitative study of patients' experiences and perceptions.

Velvin G, Johansen H, Ostertun-Geirdal A, Bathen T Orphanet J Rare Dis. 2023; 18(1):119.

PMID: 37208760 PMC: 10199502. DOI: 10.1186/s13023-023-02709-2.

Psychological Aspect and Quality of Life in Porphyrias: A Review.

Francesca G, Nicolli A, Colaiocco A, Pierro E, Graziadei G Diagnostics (Basel). 2022; 12(5).

PMID: 35626348 PMC: 9140101. DOI: 10.3390/diagnostics12051193.

References

Whitehead L, Unahi K, Burrell B, Crowe M . The Experience of Fatigue Across Long-Term Conditions: A Qualitative Meta-Synthesis. J Pain Symptom Manage. 2016; 52(1):131-143.e1. DOI: 10.1016/j.jpainsymman.2016.02.013. View

Symonds T, Randall J, Campbell P . Review of patient-reported outcome measures for use in myotonic dystrophy type 1 patients. Muscle Nerve. 2016; 56(1):86-92. DOI: 10.1002/mus.25469. View

Jaeger G, Rojvik A, Berglund B . Participation in society for people with a rare diagnosis. Disabil Health J. 2014; 8(1):44-50. DOI: 10.1016/j.dhjo.2014.07.004. View

Hagemans M, van Schie S, Janssens A, van Doorn P, Reuser A, van der Ploeg A . Fatigue: an important feature of late-onset Pompe disease. J Neurol. 2007; 254(7):941-5. PMC: 2779379. DOI: 10.1007/s00415-006-0434-2. View

Gruet M . Fatigue in Chronic Respiratory Diseases: Theoretical Framework and Implications For Real-Life Performance and Rehabilitation. Front Physiol. 2018; 9:1285. PMC: 6156387. DOI: 10.3389/fphys.2018.01285. View

Rath A, Salamon V, Peixoto S, Hivert V, Laville M, Segrestin B . A systematic literature review of evidence-based clinical practice for rare diseases: what are the perceived and real barriers for improving the evidence and how can they be overcome?. Trials. 2017; 18(1):556. PMC: 5700662. DOI: 10.1186/s13063-017-2287-7. View

Boycott K, Rath A, Chong J, Hartley T, Alkuraya F, Baynam G . International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases. Am J Hum Genet. 2017; 100(5):695-705. PMC: 5420351. DOI: 10.1016/j.ajhg.2017.04.003. View

Eddy L, Cruz M . The relationship between fatigue and quality of life in children with chronic health problems: a systematic review. J Spec Pediatr Nurs. 2007; 12(2):105-14. DOI: 10.1111/j.1744-6155.2007.00099.x. View

Gold J, Mahrer N, Yee J, Palermo T . Pain, fatigue, and health-related quality of life in children and adolescents with chronic pain. Clin J Pain. 2009; 25(5):407-12. PMC: 2844257. DOI: 10.1097/AJP.0b013e318192bfb1. View

10.

Shapiro S, Stephensen D, Camp C, Carroll L, Collins P, Elston D . The top 10 research priorities in bleeding disorders: a James Lind Alliance Priority Setting Partnership. Br J Haematol. 2019; 186(4):e98-e100. DOI: 10.1111/bjh.15928. View

11.

Pham M, Rajic A, Greig J, Sargeant J, Papadopoulos A, McEwen S . A scoping review of scoping reviews: advancing the approach and enhancing the consistency. Res Synth Methods. 2015; 5(4):371-85. PMC: 4491356. DOI: 10.1002/jrsm.1123. View

12.

Slade A, Isa F, Kyte D, Pankhurst T, Kerecuk L, Ferguson J . Patient reported outcome measures in rare diseases: a narrative review. Orphanet J Rare Dis. 2018; 13(1):61. PMC: 5914068. DOI: 10.1186/s13023-018-0810-x. View

13.

Jarad N, Sequeiros I, Patel P, Bristow K, Sund Z . Fatigue in cystic fibrosis: a novel prospective study investigating subjective and objective factors associated with fatigue. Chron Respir Dis. 2012; 9(4):241-9. DOI: 10.1177/1479972312464236. View

14.

Nijhuis W, Franken A, Ayers K, Damas C, Folkestad L, Forlino A . A standard set of outcome measures for the comprehensive assessment of osteogenesis imperfecta. Orphanet J Rare Dis. 2021; 16(1):140. PMC: 7980586. DOI: 10.1186/s13023-021-01682-y. View

15.

Loge J, Ekeberg O, Kaasa S . Fatigue in the general Norwegian population: normative data and associations. J Psychosom Res. 1998; 45(1):53-65. DOI: 10.1016/s0022-3999(97)00291-2. View

16.

Morel T, Cano S . Measuring what matters to rare disease patients - reflections on the work by the IRDiRC taskforce on patient-centered outcome measures. Orphanet J Rare Dis. 2017; 12(1):171. PMC: 5667521. DOI: 10.1186/s13023-017-0718-x. View

17.

Petersen A . The best experts: the narratives of those who have a genetic condition. Soc Sci Med. 2006; 63(1):32-42. DOI: 10.1016/j.socscimed.2005.11.068. View

18.

Kluger B, Krupp L, Enoka R . Fatigue and fatigability in neurologic illnesses: proposal for a unified taxonomy. Neurology. 2013; 80(4):409-16. PMC: 3589241. DOI: 10.1212/WNL.0b013e31827f07be. View

19.

Penner I, Paul F . Fatigue as a symptom or comorbidity of neurological diseases. Nat Rev Neurol. 2017; 13(11):662-675. DOI: 10.1038/nrneurol.2017.117. View

20.

Cella D, Yount S, Sorensen M, Chartash E, Sengupta N, Grober J . Validation of the Functional Assessment of Chronic Illness Therapy Fatigue Scale relative to other instrumentation in patients with rheumatoid arthritis. J Rheumatol. 2005; 32(5):811-9. View