Investigating the role of rare coding variability in Mendelian dementia genes (APP, PSEN1, PSEN2, GRN, MAPT, and PRNP) in late-onset Alzheimer's disease

The overlapping clinical and neuropathologic features between late-onset apparently sporadic Alzheimer's disease (LOAD), familial Alzheimer's disease (FAD), and other neurodegenerative dementias (frontotemporal dementia, corticobasal degeneration, progressive supranuclear palsy, and Creutzfeldt-Jakob disease) raise the question of whether shared genetic risk factors may explain the similar phenotype among these disparate disorders. To investigate this intriguing hypothesis, we analyzed rare coding variability in 6 Mendelian dementia genes (APP, PSEN1, PSEN2, GRN, MAPT, and PRNP), in 141 LOAD patients and 179 elderly controls, neuropathologically proven, from the UK. In our cohort, 14 LOAD cases (10%) and 11 controls (6%) carry at least 1 rare variant in the genes studied. We report a novel variant in PSEN1 (p.I168T) and a rare variant in PSEN2 (p.A237V), absent in controls and both likely pathogenic. Our findings support previous studies, suggesting that (1) rare coding variability in PSEN1 and PSEN2 may influence the susceptibility for LOAD and (2) GRN, MAPT, and PRNP are not major contributors to LOAD. Thus, genetic screening is pivotal for the clinical differential diagnosis of these neurodegenerative dementias

A critical realist evaluation of advance care planning in care homes

Aims: To evaluate care planning in advance of end-of-life care in care homes. Design: A qualitative study. Methods: Qualitative data were collected from January 2018–July 2019 (using focus groups and semi-structured interviews) from three care homes in the South West of England. The data were analysed using thematic analysis followed by Critical Realist Evaluation. Results: Participants comprised of registered nurses (N = 4), care assistants (N = 8), bereaved relatives (N = 7), and domiciliary staff (N = 3). Although the importance of advance care planning was well recognized, the emotional labour of frequently engaging in discussions about death and dying was highlighted as a problem by some care home staff. It was evident that in some cases care home staff's unmet emotional needs led them to rushing and avoiding discussions about death and dying with residents and relatives. A sparsity of mechanisms to support care home staff's emotional needs was noted across all three care homes. Furthermore, a lack of training and knowledge appeared to inhibit care home staff's ability to engage in meaningful care planning conversations with specific groups of residents such as those living with dementia. The lack of training was principally evident amongst non-registered care home staff and those with non-formal caring roles such as housekeeping. Conclusion: There is a need for more focused education to support registered and non-registered care home staff to effectively engage in sensitive discussions about death and dying with residents. Furthermore, greater emotional support is necessary to help build workforce resilience and sustain change. Impact: Knowledge generated from this study can be used to inform the design and development of future advance care planning interventions capable of supporting the delivery of high-quality end-of-life care in care homes

A critical realist evaluation of advance care planning in care homes

Aims: To evaluate care planning in advance of end-of-life care in care homes. Design: A qualitative study. Methods: Qualitative data were collected from January 2018–July 2019 (using focus groups and semi-structured interviews) from three care homes in the South West of England. The data were analysed using thematic analysis followed by Critical Realist Evaluation. Results: Participants comprised of registered nurses (N = 4), care assistants (N = 8), bereaved relatives (N = 7), and domiciliary staff (N = 3). Although the importance of advance care planning was well recognized, the emotional labour of frequently engaging in discussions about death and dying was highlighted as a problem by some care home staff. It was evident that in some cases care home staff's unmet emotional needs led them to rushing and avoiding discussions about death and dying with residents and relatives. A sparsity of mechanisms to support care home staff's emotional needs was noted across all three care homes. Furthermore, a lack of training and knowledge appeared to inhibit care home staff's ability to engage in meaningful care planning conversations with specific groups of residents such as those living with dementia. The lack of training was principally evident amongst non-registered care home staff and those with non-formal caring roles such as housekeeping. Conclusion: There is a need for more focused education to support registered and non-registered care home staff to effectively engage in sensitive discussions about death and dying with residents. Furthermore, greater emotional support is necessary to help build workforce resilience and sustain change. Impact: Knowledge generated from this study can be used to inform the design and development of future advance care planning interventions capable of supporting the delivery of high-quality end-of-life care in care homes

I becomes we, but where is me? The unity–division paradox when caring for a relative with dementia: A qualitative study

Background: The number of older people living with dementia is increasing. Admiral Nurses work with these individuals and their families in the UK to manage challenges associated with the condition, providing guidance, advice and reassurance, alongside practical solutions. Aim: To explore the input of Admiral Nurses as part of people's journey to becoming and being a carer for someone with dementia. Design: A qualitative study was conducted to describe and understand how Admiral Nurses are experienced and encountered by carers as part of their narrative around supporting a relative with dementia. Methods: Semi‐structured interviews were conducted with 19 carers between November 2017–April 2018. They lasted between 45 and 90 min. Thematic analysis was used to interpret data. Findings: An overarching concept of “the unity–division paradox” was derived from the data. This highlights the complex interchange between the carer with (a) the person with dementia, (b) other individuals and (c) external services. Such interactions can make carers feel part of a larger network (unity) but also as if they are on their own, fighting on behalf of the person with dementia (division). This concept was underpinned by the following themes: (a) I becomes we; (b) My private world is encroached by dementia; (c) I’m left navigating an unwieldy system; (d) Are you with or against us?; and (e) Recreating boundaries to rediscover me. Conclusion: The identity and unique characteristics and interests of those caring for a person with dementia may be lost as they encounter tensions associated with the unity–division paradox. Admiral Nurses can help carers feel less alone in managing internal and external struggles by supporting them to do their best for a loved one with dementia. Implications for Practice: Understanding carers’ experience and supporting their work may help to increase and sustain their capacity to provide care.</p