Department of Medical Psychology, Radboud Center for Mitochondrial Medicine, Amalia Children's Hospital, Radboud Institute for Health Sciences, Radboud University Medical Center, Geert Grooteplein Zuid 10, PO Box 9101, 6500 HB, Nijmegen, The Netherlands.
Department of Internal Medicine, Radboud Center for Mitochondrial Medicine, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Geert Grooteplein Zuid 10, PO Box 9101, 6500 HB, Nijmegen, The Netherlands.
Orphanet J Rare Dis. 2022 Jul 15;17(1):263. doi: 10.1186/s13023-022-02411-9.
Previous 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.
Patients 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.
Of 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.
Symptom 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.
先前对患有线粒体疾病（MD）的患者的研究强调了认知障碍、疲劳、抑郁和生活质量（QoL）降低的高发病率。其与生物和生理因素之间的关系仍然很复杂。本研究的目的是通过使用 Wilson 和 Cleary 的适应于 MD 的概念性疾病模型，调查生物和生理功能、认知功能以及疲劳、抑郁、社会参与、健康感知和 QoL 的现状及其相互关系。
纳入了经基因确诊的 MD 患者。根据概念模型，对 MD 中的以下健康概念进行了研究：（1）生物和生理：疾病表现（纽卡斯尔线粒体疾病成人量表），（2）症状状况：认知功能、患者报告的疲劳和抑郁症状，（3）功能健康：社会参与，（4）患者报告的健康感知，以及（5）总体 QoL。将数据与健康的参考数据和/或来自其他患者群体的数据进行了比较。为了评估概念模型中不同健康概念水平之间的关系，进行了相关性分析和层次回归分析。
在 95 名纳入的患者中，有 42%的患者疾病表现严重。35%的患者报告认知障碍，80%的患者报告严重疲劳，27%的患者报告抑郁症状，与参考数据和其他患者群体相比，这些数据可与之相媲美或更差。患者的社会参与度和 QoL 受损。疾病表现与认知功能、社会参与、身体功能和总体 QoL 显著相关，但与疲劳或抑郁症状无关。功能健康、健康感知和 QoL 的几乎所有结果测量都与症状状态变量相关。总体 QoL 与疲劳和身体功能显著相关。
症状状态与 MD 患者的功能健康、健康感知和 QoL 相关。此外，疲劳和身体功能是 MD 患者总体 QoL 的重要贡献因素。为了提供适当的患者护理，不仅要进行适当的临床评估，还要筛查认知功能、疲劳和抑郁等症状状态，全面了解患者的功能非常重要。
