Navigating Life With Primary Mitochondrial Myopathies: The Importance of the Patient Voice and Implications for Clinical Practice.

Primary mitochondrial myopathies (PMM) are rare disorders with diverse and progressive symptom presentations that cause a substantial, detrimental impact on the quality of life of patients and their caregivers. The burden of symptoms is compounded by their visibility and their unpredictable, progressive nature, leading to a sense of social stigmatization, limited autonomy, social isolation, and grief. There is also a lack of awareness and expertise in the medical community, which presents huge obstacles to diagnosis and provision of coordinated multidisciplinary care for these patients, along with a lack of disease-modifying treatments. The present commentary serves to raise awareness of the challenges faced by patients with PMM and their caregivers in their own words, including diagnostic delays, the burden of disease, and the need for further trials to develop disease-modifying treatments and improved understanding of the disease course. We also provide commentary on considerations for clinical practice, including the need for holistic care and multidisciplinary care teams, details of common 'red flag' symptoms, proposed diagnostic approaches, and suggested descriptions of multisystemic symptoms for physician-patient dialogue. In addition, we highlight the role patient advocacy and support groups play in supporting patients and providing access to reliable, up-to-date information and educational resources on these rare diseases.

Can the concepts of depression and quality of life be integrated using a time perspective?

BACKGROUND: Little is understood about the conceptual relationship of depression and quality of life (QoL). Judgments concerning both, implicitly or explicitly, involve a time perspective. The aim of this study was to test de Leval's theoretical model linking depression and QoL with a time perspective. The model predicts that changes in cognitions about one's past, present and future QoL, will be associated with changes in depressive symptomatology. METHODS: Eighteen psychiatric in-patients with a clinically confirmed diagnosis of depression were assessed on commencing treatment and 12 weeks later. QoL was assessed by the Schedule for Evaluation of Individual Quality of Life (SEIQoL), depression by the Beck Depression Inventory (BDI-II) and hopelessness by the Beck Hopelessness Scale (BHS). Time perspective was incorporated by asking QoL questions about the past, present and future. RESULTS: Depression and hopelessness were associated with a poorer present QoL. Depression lowered present QoL but did not alter future QoL, as these remained consistently high whether participants were depressed or recovering. However, depressed individuals had a larger gap between their actual present QoL and future (aspired to) QoL. Changes in QoL were influenced by depression and hopelessness. Contrary to the model, perception of "past" QoL was not affected by depression or hopelessness. CONCLUSIONS: de Leval's model was largely confirmed. Thus depression and hopelessness influence a person's present and future QoL. The analysis of a temporal horizon was helpful in understanding the link between depression and QoL.