High Users of Healthcare Services: Development and Alpha Testing of a Patient Decision Aid for Case Management.

BACKGROUND: Some patients with complex healthcare needs become high users of healthcare services. Case management allows these patients and their interprofessional team to work together to evaluate their needs, priorities and available resources. High-user patients must make an informed decision when choosing whether to engage in case management and currently there is no tool to support them. OBJECTIVE: The objective of this study was to develop and conduct a pilot alpha testing of a patient decision aid that supports high-user patients with complex needs and the teams who guide those patients in shared decision making when engaging in case management. METHODS: We chose a user-centered design to co-develop a patient decision aid with stakeholders informed by the Ottawa Research Institute and International Patient Decision Aid Standards frameworks. Perceptions and preferences for the patient decision aid's content and format were assessed with patients and clinicians and were iteratively collected through interviews and focus groups. We developed a prototype and assessed its acceptability by using a think-aloud method and a questionnaire with three patient-partners, six clinicians and seven high-user patients with complex needs. RESULTS: The three rounds of evaluation to assess the decision aid's acceptability highlighted comments related to simplicity, readability and visual aspect. A section presenting clinical vignettes including story telling was identified as the most helpful. CONCLUSIONS: We created and evaluated a patient decision aid. Considering the positive comments, we believe that this aid has the potential to help high-user patients with complex care needs make better choices concerning case management.

Some patients are living with physical and mental health problems. They also may have handicaps and unsuitable backgrounds. This may lead them to use health services more often. Case management is a service offered by a team of health professionals. They help patients to decide what is important to them based on their values and preferences. Currently, no tools exist for that service. We built and assessed a tool to support patients in their decisions. With this tool, they think about engaging in case management or continuing with usual care. They can also postpone their decision to a later time. This tool will present data based on scientific studies about case management. It will help patients to clarify their values and preferences to make the best decision for them. This tool was built with a team of researchers, healthcare professionals, managers and patient-partners. It was built according to several guidelines. We met participants and they answered questions that helped us to build our tool. We also ensured the tool was acceptable to them. The most frequent comments were to make it simpler and to use simple vocabulary. The look was also important for the participants. The latter found that the section where patients could write their own story was useful. Patients also found that reading stories about other patients like them was helpful. Our tool will help patients with complex care needs make better choices concerning their health based on their values and scientific data.

A Metabolic Signature of Mitochondrial Dysfunction Revealed through a Monogenic Form of Leigh Syndrome

A decline in mitochondrial respiration represents the root cause of a large number of inborn errors of metabolism. It is also associated with common age-associated diseases and the aging process. To gain insight into the systemic, biochemical consequences of respiratory chain dysfunction, we performed a case-control, prospective metabolic profiling study in a genetically homogenous cohort of patients with Leigh syndrome French Canadian variant, a mitochondrial respiratory chain disease due to loss-of-function mutations in LRPPRC. We discovered 45 plasma and urinary analytes discriminating patients from controls, including classic markers of mitochondrial metabolic dysfunction (lactate and acylcarnitines), as well as unexpected markers of cardiometabolic risk (insulin and adiponectin), amino acid catabolism linked to NADH status (α-hydroxybutyrate), and NAD(+) biosynthesis (kynurenine and 3-hydroxyanthranilic acid). Our study identifies systemic, metabolic pathway derangements that can lie downstream of primary mitochondrial lesions, with implications for understanding how the organelle contributes to rare and common diseases.