ArticleOrphanet journal of rare diseases2022
A conceptual disease model for quality of life in mitochondrial disease.
Article in Orphanet journal of rare diseases, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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4 citing papers in PubMed.
- Karnofsky performance scale and modified Rankin scale as indicators of functional capacity in patients with mitochondrial disease.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2026Article
- Childhood visual impairment and health-related quality of life in Ghana: evidence from a cross-sectional study.Health and quality of life outcomes · 2026Article
- Efficacy and Safety of Photobiomodulation in MELAS: Protocol for a Series of N-of-1 Trials.Journal of clinical medicine · 2025Article
- The profound implications of mitochondrial myopathy on activities of daily living: an observational qualitative study of standardized structured and semi-structured patient interviews.Therapeutic advances in chronic disease · 2025Article
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Abstract
backgroundPrevious studies in patients with a mitochondrial disease (MD) highlight the high prevalence of cognitive impairments, fatigue, depression, and a lower quality of life (QoL). The relationship with biological and physiological factors remains complex. The aim of this study is to investigate the status of and interrelationships between biological and physiological functioning, cognitive functioning as well as fatigue, depression, societal participation, health perceptions, and QoL, by using the Wilson and Cleary conceptual disease model, adapted to MD.
methodsPatients with a genetically confirmed MD were included. The following health concepts in MD were investigated according to the conceptual model: (1) Biological and physiological: disease manifestation (Newcastle Mitochondrial Disease Adult Scale), (2) Symptom status: cognitive functioning, patient reported fatigue and depressive symptoms, (3) Functional health: societal participation, (4) Patient reported health perceptions, and (5) Overall QoL. Data were compared to healthy normative data and/or data from other patient groups. Correlations as well as a hierarchical regression analysis were performed to assess the relations between the different levels of health concepts in the conceptual model.
resultsOf the 95 included patients, 42% had a severe disease manifestation. Comparable or worse than normative data and other patient groups, 35% reported cognitive impairments, 80% severe fatigue, and 27% depressive symptoms. Patients experienced impairments in societal participation and QoL. Disease manifestation was significantly correlated with cognitive functioning, societal participation, physical functioning and overall QoL, but not with fatigue or depressive symptoms. Almost all outcome measures regarding functional health, health perceptions and QoL were correlated with symptom status variables. Overall QoL was significantly predicted by fatigue and physical functioning.
conclusionsSymptom status is related to the functional health, health perceptions and QoL in patients with MD. Moreover, fatigue and physical functioning are important contributors to the overall QoL of MD patients. In order to provide adequate patient care it is important to have a broad view on patients' functioning, not only by providing a proper clinical assessment, but also to screen for symptom status; cognitive functioning, fatigue and depression.
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