Table 1 Inclusion and exclusion criteria
| Â | Included | Excluded |
|---|---|---|
Population of interest | Studies with participants from any country Both children and adults in a selection of rare diseases in the Orphanet rare disorder classification groups: Rare developmental defects / anomalies during embryogenesis and rare genetic diseases Studies including a broader population were included if: (a) presenting separate data on persons with a diagnosis in one of the included diagnostic groups, (b) the mixed populations included ≥ 80% of the study population with a diagnosis in one of the included diagnostic groups | Studies of experienced fatigue in common diseases and other rare diseases than the included diagnostic groups Studies with broader populations not presenting separate results for the included rare disorders or not including ≥ 80% of the study population with a diagnosis in one of the included diagnostic groups |
Publications relevant for inclusion | Studies published in peer-reviewed journals: - primary research studies with one aim of investigating patient’s experienced fatigue, or using outcome measures for experienced fatigue - secondary research studies like systematic reviews giving data on experienced fatigue | Case-studies with ≤ 5 participants, Conference abstracts, posters, reports, book-chapters, unpublished data (grey literature), study protocols Expert opinions, guidelines and non-systematic reviews |
Topic of interest | Studies presenting data on patient-reported experienced (or subjective or perceived) fatigue in both children and adults with one of the defined rare diseases. For children both children’s report and parent’s report of the child’s fatigue was included | Studies of: - physiological (muscular) fatigue/muscular endurance - caregiver or parent’s report of their own fatigue in caring for a child with a rare disease - medical professionals’ views of patients with rare diseases’ most important symptoms - fatigue as adverse effect in medication intervention studies, as this is primarily a temporary effect - fatigue reported as a symptom in studies of patients clinical characteristic (i.e. from patient records) Studies primarily investigating quality of life and reporting results of vitality using QoL instruments (e.g. SF-36), as these measures may not capture severe fatigue |
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