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BACKGROUND: Prion diseases are a group of rare, neurodegenerative conditions that are invariably fatal and cause a variety of symptoms, which can prove challenging to control. Through this paper, we aim to review the current evidence regarding pharmacological management of neuropsychiatric and motor symptoms of prion disease as well as draw on experts' and relatives' experience, to evaluate the current evidence and provide recommendations moving forwards. METHODS: A scoping review of the literature for pharmacological management of symptoms was conducted using the systematic review tool, COVIDENCE, with searches conducted through four databases. 120 papers were selected for inclusion, and data extraction was carried out by two independent reviewers. Given the lack of high-quality data and small numbers, no further attempt at statistical analysis was made, and results are presented in a thematic synthesis. RESULTS: Although a broad range of approaches and pharmacotherapies are trialled to manage these challenging symptoms, there are patterns emerging of some efficacy seen with the use of benzodiazepines, antipsychotic and anticonvulsant medications in both motor and neuropsychiatric symptoms in prion disease. These approaches and associated challenges were reflected in international expert opinion that was gathered via online survey. CONCLUSION: There continues to be a paucity of good-quality evidence and we suggest a need for longitudinal, population-based and standardised research to allow a robust evidence base, which in turn will guide excellent symptom control and end of life care for this group of complex patients.

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BACKGROUND: Although home non-invasive ventilation for patients with chronic obstructive pulmonary disease and persisting hypercapnia prolongs time to hospital readmission and prognosis, they retain a poor long-term prognosis. Requiring non-invasive ventilation in this population should trigger advance care planning, yet only 50% of patients are engaged in such discussions. AIM: This study aimed to explore the barriers and facilitators to advance care planning for patients with chronic obstructive pulmonary disease on home non-invasive ventilation and generate recommendations for improving practice. STUDY DESIGN: A cross-sectional interview study took place with 10 patients with chronic obstructive pulmonary disease on home non-invasive ventilation and 12 North East Assisted Ventilation Service healthcare professionals from the North East of England. RESULTS: Three themes ('overlooked', 'disjointed care' and 'awareness and expertise') were identified. Patients with chronic obstructive pulmonary disease are a 'forgotten about' population, exacerbated by prejudice and unpredictable disease trajectories. Recognition as a distinct and underserved population may improve care and advance care planning. All participants recognised a lack of care continuity, including limited collaboration and communication between services, as a significant barrier to advanced care planning. Additionally, lacking understanding of the rationale and positive impacts of advance care planning, exacerbated by a lack of expertise in difficult conversations, was a barrier to advance care planning. CONCLUSIONS: Patients and healthcare professionals highlighted the need for individualised and ongoing advance care planning, particularly around prognosis and care preferences. Discussions should be initiated by familiar clinicians. Effective communication between services, clear agreements and protocols and upskilling healthcare professionals may ensure continuity of care.

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Genetic and epigenetic alterations contribute to the biological and clinical characteristics of myelodysplastic syndromes (MDS), but a role for socioeconomic environment remains unclear. Here, socioeconomic status (SES) for 283 MDS patients was estimated using the Scottish Index of Multiple Deprivation tool. Indices were assigned to quintile categorical indicators ranked from SES1 (lowest) to SES5 (highest). Clinicopathological features and outcomes between SES quintiles containing 15%, 20%, 19%, 30% and 16% of patients were compared. Prognostic scores identified lower-risk MDS in 82% of patients, with higher-risk disease in 18%. SES quintiles did not associate with age, gender, cytogenetics, International Prognostic scores or, in sub-analysis (n = 95), driver mutations. The odds ratio of a diagnosis of refractory anaemia was greater than other MDS sub-types in SES5 (OR 1·9, P = 0·024). Most patients (91%) exclusively received supportive care. SES did not associate with leukaemic transformation or cause of death. Cox regression models confirmed male gender (P < 0·05), disease-risk (P < 0·0001) and age (P < 0·01) as independent predictors of leukaemia-free survival, with leukaemic transformation an additional determinant of overall survival (P = 0·07). Thus, if access to healthcare is equitable, SES does not determine disease biology or survival in MDS patients receiving supportive treatment; additional studies are required to determine whether outcomes following disease-modifying therapies are influenced by SES.

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