Palliative care in Duchenne muscular dystrophy: Goals of care discussions and beyond

Recent therapeutic advances and proactive standardized interdisciplinary care have altered the natural history of Duchenne muscular dystrophy (DMD), with most men now living into their third or fourth decade of life. Prolonged survival with multiple comorbidities poses a wide array of challenges for individuals with DMD and their caregivers. These span across multiple critical domains, including, but not limited to, diverse psychosocial needs, transition of care, quality of life, advance care planning, and end-of-life discussions. A more holistic approach is needed that accounts for the aforementioned factors and the physical, emotional, psychosocial, financial, and spiritual needs of individuals with DMD and their caregivers. The DMD standard of care considerations emphasize implementing discussions around goals of care, advanced care planning, hospice, and health care power of attorney in clinical practice when caring for individuals with DMD. Palliative care is based on the principles of such an approach and often comprises a multidisciplinary team of health care providers whose goal is to maximize quality of life and help patients and families with decision making regarding goals of care. Palliative care engagement is recommended throughout the lifespan of these individuals; however, practices surrounding these topics and palliative care team involvement in DMD is highly variable across centers. The few published studies consistently showed underutilization of palliative care services in DMD. The reasons for this are multilayered, and may include limited resources, time constraints, lack of awareness among providers or families, and lack of willingness of patients and their families to engage with these services. Even when palliative care services are available, our understanding of the unique needs and perceptions of goals of care is limited for those with DMD and their caregivers. In this issue of Muscle and Nerve, Grossoehme et al explored the perspectives of adolescents and young adults with DMD and their caregivers pertaining to personal goals of care relating to disease progression and physical limitations. They utilized a hypothesisgenerating, grounded-theory approach for their study. Their qualitative research involved collecting non-numerical data such as individuals0 perceptions and experiences on particular areas of interest. Such qualitative research often provides in-depth insights into the problem being addressed and generates new research hypotheses. Traditional quantitative approaches, such as randomized controlled trials or observational studies, may not be feasible when gathering individual viewpoints on care goals and advance directives in this population, due to the sensitive nature of the topics and complexities surrounding data generation. The small number of currently available studies that focused on palliative care services in the DMD population used such qualitative research methodologies primarily by interviewing patients and their families/caregivers. Grossoehme et al interviewed 13 individuals with DMD, aged 11 to 33 years, at different disease stages together with 17 caregivers. Their findings revealed that the adolescents and young adults with DMD were unlikely to have explicit goals of care discussions with their providers and generally deferred such evaluation because of delays in diagnoses and a gradual disease progression. Furthermore, these individuals were more engaged in their current issues rather than wishing to engage in discussions of an unforeseeable future. Another interesting, but not surprising finding, is that individuals with DMD were often not ready to make their own decisions and were accustomed to their caregivers making not only medical care decisions, but future goals of care decisions on their behalf. It is important to note that the goals of care described by the adolescents and young adults with DMD and their caregivers were related to improving quality of life and increasing lifespan. The study also unraveled the mistrust in the health care system, as described by the caregivers, and fewer provider led goals of care discussions. It is reasonable to consider that this could related in part to the timing of goals of care discussions, the introduction to the palliative care team, consistency of the service, and discussions throughout the care of the individual. Some confounders to discussing goals of care and advance care planning in children with DMD could be the high emotional impact of such decisions, involvement of multiple stakeholders such as parents, families, and school in the care of children, and the inability of some patients to consent. Grossoehme et al included males with DMD aged 11 years and older; however, differences, if any, in responses between younger and older age groups, were not examined. One could envision changes in goals of care over time as the disease progresses and the need to tailor discussions based on such needs. The patient-family-provider relationship is critical to initiate and continue conversations regarding goals of care and advance care planning. It is important to note that only 44% of the participants in the study by Grossoehme et al used palliative care services in spite of the strong representation of palliative care team at their centers. Studies have shown that providers0 awareness, discomfort, and uncertainty can influence the discussions around goals of care and advance care planning. Physicians caring for adult patients generally defer Abbreviation: DMD, Duchenne muscular dystrophy. Received: 9 March 2022 Revised: 24 March 2022 Accepted: 26 March 2022