"We are not a typical family anymore": Exploring the experiences and support needs of fathers of children with Fragile X syndrome in Australia.

A diagnosis of the X-linked condition Fragile X syndrome (FXS) in a child commonly reveals the mother's carrier status. Previous research focused on the genetic counseling process for the child and maternal family, despite calls for more research on the support needs of fathers. This study explored experiences and support needs of fathers at least 1 year after their child's FXS diagnosis to understand barriers and enablers and optimize health outcomes for the family. In-depth interviews were conducted with 11 fathers recruited through the Australian Genetics of Learning Disability Service and the Fragile X Association. Deidentified transcripts were analyzed using thematic analysis guided by an inductive approach. Four themes emerged: (1) making life easier through understanding-yesterday and today, (2) the path to a new normal-today and tomorrow, (3) seeking information and support, and (4) what men want. Fathers reported diagnostic odysseys, postdiagnostic grief, and challenges adjusting. They highlighted difficulties in understanding their child's unique behaviors and needs, responding to their partner's psychological support needs, planning for their child's future, and navigating complex health and disability systems. Participants suggested health professionals facilitate father-to-father support and psychological counseling. These findings highlight the unmet needs of fathers and suggest that a strengths-based approach is critically important given the recognized mental health impact.

Effectiveness of non-pharmacological interventions delivered at home for urinary and faecal incontinence with homebound older people: systematic review of randomised controlled trials.

INTRODUCTION: Incontinence is a common, distressing condition, most prevalent in older people. There is an unmet need for effective interventions to support continence. This review focuses on non-pharmacological interventions to reduce incontinence among homebound older people. Aim: to identify interventions with potential to be delivered by care workers, nurses or family members in a person's home. METHODS: Multiple databases were searched until 15 September 2023 for randomised controlled trials reporting home-based interventions for incontinence for older people (≥65 years) living at home. Two reviewers independently screened titles, abstracts and papers against inclusion criteria, then assessed for the Risk of Bias (RoB2). A third reviewer resolved the discrepancies. Primary data were extracted and synthesised. RESULTS: A full-text review of 81 papers identified seven eligible papers (1996-2022, all USA), including n = 636 participants (561 women and 75 men). Two studies focusing on multicomponent behavioural interventions showed benefit, as did one study of transcutaneous tibial nerve stimulation self-administered through electrode-embedded socks. Three, which included cognitively impaired people, reported improvement with toileting assistance programmes, but the effects were not all significant. Results were inconclusive from a study examining the effects of fluid intake adjustments. Interventions were delivered by nurses, three in collaboration with family caregivers. No faecal incontinence interventions met the criteria. CONCLUSION: There is scant evidence for continence supporting interventions delivered in older people's own homes. With an ageing population often reliant on family or social care workers well-placed to support continence promotion and policy drives for services to support older people remaining at home, this evidence gap needs addressing.

Frequency of LATE neuropathologic change across the spectrum of Alzheimer's disease neuropathology: combined data from 13 community-based or population-based autopsy cohorts.

Limbic-predominant age-related TDP-43 encephalopathy neuropathologic change (LATE-NC) and Alzheimer's disease neuropathologic change (ADNC) are each associated with substantial cognitive impairment in aging populations. However, the prevalence of LATE-NC across the full range of ADNC remains uncertain. To address this knowledge gap, neuropathologic, genetic, and clinical data were compiled from 13 high-quality community- and population-based longitudinal studies. Participants were recruited from United States (8 cohorts, including one focusing on Japanese-American men), United Kingdom (2 cohorts), Brazil, Austria, and Finland. The total number of participants included was 6196, and the average age of death was 88.1 years. Not all data were available on each individual and there were differences between the cohorts in study designs and the amount of missing data. Among those with known cognitive status before death (n = 5665), 43.0% were cognitively normal, 14.9% had MCI, and 42.4% had dementia-broadly consistent with epidemiologic data in this age group. Approximately 99% of participants (n = 6125) had available CERAD neuritic amyloid plaque score data. In this subsample, 39.4% had autopsy-confirmed LATE-NC of any stage. Among brains with "frequent" neuritic amyloid plaques, 54.9% had comorbid LATE-NC, whereas in brains with no detected neuritic amyloid plaques, 27.0% had LATE-NC. Data on LATE-NC stages were available for 3803 participants, of which 25% had LATE-NC stage > 1 (associated with cognitive impairment). In the subset of individuals with Thal Aß phase = 0 (lacking detectable Aß plaques), the brains with LATE-NC had relatively more severe primary age-related tauopathy (PART). A total of 3267 participants had available clinical data relevant to frontotemporal dementia (FTD), and none were given the clinical diagnosis of definite FTD nor the pathological diagnosis of frontotemporal lobar degeneration with TDP-43 inclusions (FTLD-TDP). In the 10 cohorts with detailed neurocognitive assessments proximal to death, cognition tended to be worse with LATE-NC across the full spectrum of ADNC severity. This study provided a credible estimate of the current prevalence of LATE-NC in advanced age. LATE-NC was seen in almost 40% of participants and often, but not always, coexisted with Alzheimer's disease neuropathology.

Waiting for a diagnosis in Rubinstein-Taybi: The journey from "ignorance is bliss" to the value of "a label".

The journey to receiving a diagnosis for rare genetic disease can be long and emotionally impactful. This study describes parental experiences of receiving their child's diagnosis of Rubinstein-Taybi syndrome (RTS), a rare genetic condition characterized by growth and developmental delay together with dysmorphic features. Parents from the RTS Australia support group participated in qualitative, semi-structured phone interviews, which were transcribed verbatim and thematically analyzed. Questions focused on psychosocial challenges and benefits pre and post-diagnosis. Ten mothers and three fathers participated, with the mean age of diagnosis being 8 months. Parents reported positive psychological effects from a slight delay in diagnosis, and negative effects from an extended diagnostic delay, suggesting the ideal time for a parent to receive a diagnosis lies in the post attachment stage, prior to the development of significant parental concerns. This stage would vary depending on condition severity. Parents desired a diagnosis to reduce uncertainty; however, uncertainty remained post diagnosis, and shifted its focus from broadly encompassing etiology and prognosis, to specifically focusing on concerns regarding severity within the spectrum. Perceived benefits of a diagnosis mainly centered on the provision of a label. Parents articulated that a label increased social acceptance, enhanced coping, promoted communication, and improved access to medical, financial, and support services. This study provides insights into the experience of families prior to and following receipt of a diagnosis. It also highlights the possibility of an optimal time window to receive a diagnosis; in which bonding is maximized and parental distress is minimized.

Frailty and neuropathology in relation to dementia status: the Cambridge City over-75s Cohort study.

OBJECTIVE: To examine the relative contributions of frailty and neuropathology to dementia expression in a population-based cohort study. DESIGN: Cross-sectional analysis of observational data. SETTING: Population-representative clinicopathological cohort study. PARTICIPANTS: Adults aged 75+ recruited from general practice registries in Cambridge, UK, in 1985. MEASUREMENTS: A 39-item frailty index and 15-item neuropathological index were used to operationalize frailty and neuropathology, respectively. Dementia status was ascertained by clinical consensus at time of death. Relationships were evaluated using logistic regression models in participants with autopsy records (n = 183). Model fit was assessed using change in deviance. Population attributable fraction for frailty was evaluated in relation to dementia incidence in a representative sample of the survey participants (n = 542). RESULTS: Participants with autopsy were 92.3 ± 4.6 years at time of death, and mostly women (70%). Average frailty index value at last survey before death was 0.34 ± 0.16. People with dementia (63% of the sample) were frailer, had lower MMSE scores, and a higher burden of neuropathology. Frailty and neuropathological burden were significantly and independently associated with dementia status, without interaction; frailty explained an additional 3% of the variance in the model. Assuming a causal relationship and based on population-attributable fraction analyses, preventing severe frailty (Frailty Index ≥ 0.40) could have avoided 14.2% of dementia cases in this population-based cohort. CONCLUSIONS: In the very old, frailty contributes to the risk for dementia beyond its relationship with the burden of traditional dementia neuropathologies. Reducing frailty could have important implications for controlling the burden of dementia. Future research on frailty interventions should include dementia risk as a key outcome, public health interventions and policy decisions should consider frailty as a key risk factor for dementia, and biomedical research should focus on elucidating shared mechanisms of frailty and dementia development.

Genetic counselors, patients', and carers' views on an Australian clinical genetics service information system.

The Genetic Information System (GIS) is an Australian database of family genetic information. This health information technology system has been used by all 31 publicly operated clinical genetics services across New South Wales (NSW) and the Australian Capital Territory (ACT) for over a decade. As these services are separated geographically, the linkage engendered by the GIS facilitates the services to operate as a virtual state-wide service. This study aimed to explore the views of genetic counselors, patients, and carers on the use and storage of family genetic information in the GIS. Data were collected using audio-recorded semi-structured telephone interviews with genetic counselors experienced with using the GIS and focus groups with past patients/carers of the services. Using thematic analysis, four themes were identified from genetic counselor participant interviews (n = 12): (a) Shared information is valuable; (b) inconsistent data entry provides a challenge; (c) perceived need for the GIS to be current and integrated with other health systems; and (d) future challenges and strategies for the GIS. Three themes were identified following three focus groups with consumer participants (n = 14): (a) access to family genetic information provides a 'clearer picture'; (b) support, but caution, concerning use of information for relatives' health care; and (c) stewardship of family information. Genetic counselors and consumers identified similar advantages and privacy concerns regarding the sharing of family genetic information and all participants wanted patients/carers to be better informed about the GIS early in the genetic counseling process. Consumers were reassured by genetics health professionals' stewardship of their information, but surprised the GIS was not available nationally or for private geneticists or certain non-genetic specialists. These findings may inform further development of the GIS and other clinical genetic databases and lead to increased patient/carer knowledge through education and resource development.

Helping young children understand inherited cancer predisposition syndromes using bibliotherapy.

Communication with children about hereditary conditions in the family can be difficult for parents. Yet, good communication strategies are leading determinants of adaptation and resilience. With inherited cancer predisposition syndromes that can affect young children such as Li-Fraumeni syndrome (LFS) and hereditary pheochromocytoma and paraganglioma syndrome (HPPS), genetic testing and subsequent surveillance in at-risk children is the optimal intervention. Given testing often commences early, providing children and their parents with appropriate genetic counseling and communication strategies is important for informed decision making. To inform such communication strategies, we used a bibliotherapeutic framework, where stories are delivered prescriptively (i.e., 'bibliotherapy'), to develop a psycho-educational resource for children aged 5-10 years old at risk of either LFS or HPPS. Illustrated storybooks for children were created based on models of developmental comprehension. To ascertain their experience, parents were invited to read a storybook to their child/ren and participate in semi-structured qualitative interviews. Transcripts were analyzed thematically using a general inductive approach. The bibliotherapeutic resource reportedly supported parents with communication about these issues without raising emotional distress in either themselves or their children. The key stages of a bibliotherapeutic interaction were facilitated by the use of this resource, and all parents reported that it would have been useful when their children were first tested and/or diagnosed. This study lays the foundation for the application of bibliotherapy as a psycho-educational intervention in genetic counseling and demonstrates that bibliotherapy may improve the process of communication between parents and children regarding pediatric-inherited cancer syndromes.

Exploring the barriers preventing Indigenous Australians from accessing cancer genetic counseling.

In Australia, individuals of Aboriginal and Torres Strait Islander descent (Indigenous Australians) have poorer health outcomes than the general population, including higher incidence of cancer and reduced life expectancy up to 14 years compared to non-Indigenous Australians. Although differences in engagement with healthcare and beliefs about disease/cancer exist between Indigenous communities, a number of common barriers have been identified hindering attendance at mainstream health services. To inform exploration of barriers that may impact access to a cancer genetic counseling service, consultations with Aboriginal stakeholders were undertaken. Ethical principles for studies that engage Indigenous communities were followed throughout the research endeavor. Using a stakeholder-endorsed focus group approach, the views of an Aboriginal Elders group (n = 9) were sought with additional semi-structured interviews with social science and genetics researchers working with Indigenous communities in Australia (n = 7). Thematic analysis of the results identified three themes: explanatory models of illness, barriers to keeping well and attending services, and recommendations for improvements to access/attendance. Barriers common to accessing both mainstream health services and clinical genetic services were identified, including attributions of illness and cancer. Specific genetic counseling barriers included the cultural inclusivity and accessibility of services, and a lack of awareness of genetic counseling both in the community and by clinicians unfamiliar with genetics. Recommendations included developing flexible service delivery models and culturally appropriate resources for Indigenous patients. These findings may inform future studies to improve Indigenous health outcomes and promote a more accessible, culturally appropriate approach to provision of cancer genetics services for Australia's First Peoples.

Pre-genetics clinic resource evaluation for adults with intellectual disability: The pre-genetics clinic aid.

People with intellectual disability (PWID) consistently identify the importance of health service information that is accessible and relevant. Resources tailored to the information and support needs of PWID can facilitate inclusivity in their health care (including access to genomic medicine) and improve healthcare outcomes. Despite the fact that PWID are commonly referred to genetics services, there is a lack of appropriate resources to help them prepare for their appointments. We therefore aimed to evaluate the feasibility and acceptability of a booklet for PWID to read with their carers prior to their genetics appointment, to help them prepare for what they may experience. With input from Easy to Read experts and PWID who were members of the New South Wales (NSW) Council for Intellectual Disability, the information booklet 'Getting ready for your visit to the genetics clinic' was produced. Australian healthcare professionals (HCP) familiar with clinical genetics services were invited to complete an anonymous online survey designed to assess perceived relevance, readability, and utility of the resource. Recruitment of HCPs was pursued via affiliated clinical services and email distribution through clinical genetics organizations. Sixty-six HCPs completed and submitted the survey. The results demonstrated that HCPs believed the booklet represented a typical clinical genetics service appointment and that the majority would provide a copy of the resource to clients and their carers. They reported that the booklet was easy to understand and entailed appropriate content and images which were presented clearly and simply. Some minor modifications were recommended and incorporated into the resource. A model of customizable booklets such as this could be transferrable across clinical genetics services and guide development of other resources for PWID. This may help to reduce healthcare disparities, improve client satisfaction, and facilitate involvement of PWID in their own healthcare decisions.

Disclosure to genetic relatives without consent - Australian genetic professionals' awareness of the health privacy law.

BACKGROUND: When a genetic mutation is identified in a family member (proband), internationally, it is usually the proband's or another responsible family member's role to disclose the information to at-risk relatives. However, both active and passive non-disclosure in families occurs: choosing not to communicate the information or failing to communicate the information despite intention to do so, respectively. The ethical obligations to prevent harm to at-risk relatives and promote the duty of care by genetic health professionals (GHPs) is in conflict with Privacy laws and professional regulations that prohibits disclosure of information to a third party without the consent of the proband (duty of confidentiality). In New South Wales (NSW), Australia, amendments to Privacy legislation permits such disclosure to living genetic relatives with the process defined under guidelines although there is no legal duty to warn. This study assessed NSW GHP's awareness and experience of the legislation and guidelines. METHODS: An online survey collected demographics; theoretical knowledge; clinical scenarios to assess application knowledge; attitudes; confidence; experience with active non-disclosure. A link to correct answers was provided after completion. Knowledge scores above the median for non-parametric data or above the mean for parametric data were classified as 'good' or 'poor'. Chi square tests assessed associations between confidence and knowledge scores. RESULTS: While many of the 37 participants reported reading the guidelines, there was limited awareness of their scope and clinical application; that there is no legal duty to warn; and that the threat does not need to be imminent to warrant disclosure. No association between confidence and 'good' theoretical or applied clinical knowledge was identified. Uncertainty of their professional responsibility was identified and in the several case examples of active non-disclosure that were reported this uncertainty reflected the need for further understanding of the guidelines in regard to the processes required before disclosure was initiated. CONCLUSIONS: There is a need for further education and training about the guidelines associated with the legislation that would be relevant to support disclosure. The findings may inform future strategies to support introduction of policy changes in other jurisdictions where similar regulatory regimes are introduced.

Longitudinal analysis of the impact of loneliness on cognitive function over a 20-year follow-up.

Background: Loneliness and cognitive impairment are both commonly experienced by older old people, but evidence for the association between these has been inconsistent. Moreover, most evidence has been cross-sectional in nature and largely based on studies with relatively young later life age groups rather than 'the oldest old'. We aimed to test the potential impact of loneliness amongst older old people on their cognitive function over a 20-year period.Method: Data were drawn from wave 3 to wave 10 of the Cambridge City over-75s Cohort (CC75C) study. The impact of loneliness on transition between normal and impaired cognitive states was examined by multi-state modelling. The associations between loneliness changes and cognitive function decline were tested by using generalized estimating equation (GEE) with an independent working correlation structure. Missing data were imputed by using multiple imputation chained equations.Results: At wave 3, 713 participants were interviewed, of whom 657 (92%) had Mini-Mental State Examination (MMSE) assessments. Of individuals who had an MMSE score, approximately one quarter reported feeling lonely, and another 16% felt slightly lonely. The prevalence of feeling lonely or slightly lonely varied between waves. Results from multi-state modelling indicated that loneliness was not related to cognitive function transitions, and results from the GEE model showed that loneliness was not significantly associated with cognitive function decline after adjusting for cohort effects, follow-up time, sex, education, and interaction terms for sex, education and time.Conclusions: Loneliness did not exert long-term harmful effects on cognitive function in the oldest old.

Mortality risk of loneliness in the oldest old over a 10-year follow-up.

Objective: To investigate the impact of loneliness on all-cause mortality in the oldest old population over a 10-year follow-up.Method: Participants were from the third wave of the Cambridge City over-75s Cohort (CC75C) study, a population-based longitudinal study of older people aged 75 or over. Loneliness was measured two further times. At each wave, participants were asked how often they felt lonely and the answers were divided into three levels: not lonely, slightly lonely and lonely. The relationship between loneliness and all-cause mortality was examined using Cox regression with loneliness as a time-varying predictor. The association was adjusted for socio-demographic factors, number of chronic diseases, functional ability and depression.Results: Seven hundred thirteen participants were seen at wave 3 (out of 2166 at baseline), of whom 665 had data on loneliness. The prevalence of feeling slightly lonely and lonely was 16% and 25%, respectively. Vital status was followed for a further 10 years. A total of 562 participants died during the follow-up. After adjusting for age, sex and other socio-demographic factors, loneliness was associated with a 20% increased risk of mortality (HR: 1.2, 95% CI: 1.0-1.6). The association was disappeared after further adjusting for health conditions and depression (HR: 1.0, 95% CI: 0.8-1.4). Individuals who reported being slightly lonely were not at risk of mortality.Conclusions: The association between loneliness and mortality was fully explained by health conditions, suggesting that in the very old age, health problem is the proximal risk factor for mortality.

"Why and how did this happen?": development and evaluation of an information resource for parents of children with CHD.

BACKGROUND: The causes of CHD are complex and often unknown, leading parents to ask how and why this has happened. Genetic counselling has been shown to benefit these parents by providing information and support; however, most parents currently do not receive this service. This study aimed to develop a brochure to determine whether an information resource could improve parents' knowledge about CHD causation and inheritance and increase psychosocial functioning. METHODS: In development, the resource was assessed against several readability scales and piloted. Parents of children attending preadmission clinic for surgery were included. Assessments occurred pre- and post-receiving the information resource using a purpose-designed knowledge measure and validated psychological measures. RESULTS: Participant's (n = 52) knowledge scores increased significantly from the pre-questionnaire ( ${\overline x}\, = \,5/10$ , sd = 2.086) to post-questionnaire ( $\overline x\, = \,7.88/10$ , sd = 2.094, p < 0.001), with all aware that CHD can be caused by genetic factors after reading the brochure. Perceived personal control also increased from pre- ( $\overline x\, = \,11.856/18$ , sd = 4.339) to post-brochure ( $\overline x\, = \,14.644/18$ , sd = 3.733, p < 0.001), and many reported reduced feelings of guilt. No negative emotional response to the brochure was reported. The information provided was considered relevant (88%), reassuring (86%), and 88% would recommend the brochure to other parents. However, some wanted more emotional support and assistance in what to tell their child. CONCLUSIONS: Use of the information resource significantly enhanced parents' knowledge of CHD causation and increased their psychosocial functioning. It is a valuable resource in the absence of genetic counselling; however, it should not replace formal genetic counselling when required.

The experience of transitions in care in very old age: implications for general practice.

BACKGROUND: It can be challenging for general practitioners to support their oldest old patients through the complex process of relocation. OBJECTIVE: To provide a typology of the experiences of moving in very old age that is clinically useful for practitioners navigating very old people's relocation. METHODS: Qualitative analysis of data from a mixed-methods UK population-based longitudinal study, Cambridge City over-75s Cohort (CC75C), from Year 21 follow-up onwards. Interviews with participants aged ≥95 years old and proxy informants (Year 21: 44/48, 92%, subsequent attrition all deaths). Thematic analysis of qualitative data available from 26/32 participants who moved before they died. RESULTS: Individuals who moved voluntarily in with family experienced gratitude, and those who moved into sheltered house or care homes voluntarily had no regrets. One voluntary move into care was experienced with regret, loss and increased isolation as it severed life-long community ties. Regret and loss were key experiences for those making involuntary moves into care, but acceptance, relief and appreciation of increased company were also observed. The key experience of family members was trauma. Establishing connections with people or place ahead of moving, for example through previous respite care, eased moving. A checklist for practitioners based on the resulting typology of relocation is proposed. CONCLUSIONS: Most of the sample moved into residential care. This study highlights the importance of connections to locality, people and place along with good family relationships as the key facilitators of a healthy transition into care for the oldest old. The proposed checklist may have clinical utility.

Lack of associations between modifiable risk factors and dementia in the very old: findings from the Cambridge City over-75s cohort study.

OBJECTIVES: To investigate the association between modifiable risk and protective factors and severe cognitive impairment and dementia in the very old. Additionally, the present study tests the predictive validity of the 'LIfestyle for BRAin health' (LIBRA) score, an index developed to assess an individual's dementia prevention potential. METHOD: Two hundred seventy-eight individuals aged 85 years or older from the Cambridge City over-75s cohort study were followed-up until death. Included risk and protective factors were: diabetes, heart disease, hypertension, depression, smoking, low-to-moderate alcohol use, high cognitive activity, and physical inactivity. Incident severe cognitive impairment was based on the Mini-Mental State Examination (score: 0-17) and incident dementia was based on either post-mortem consensus clinical diagnostic assessments or death certificate data. Logistic regressions were used to test whether individual risk and protective factors and the LIBRA score were associated with severe cognitive impairment or dementia after 18 years follow-up. RESULTS: None of the risk and protective factors or the LIBRA score was significantly associated with increased risk of severe cognitive impairment or dementia. Sensitivity analyses using a larger sample, longer follow-up period, and stricter cut-offs for prevalent cognitive impairment showed similar results. CONCLUSION: Associations between well-known midlife risk and protective factors and risk for severe cognitive impairment or dementia might not persist into very old age, in line with suggestions that targeting these factors through lifestyle interventions should start earlier in life.

European Association for Neuro-Oncology (EANO) guidelines for palliative care in adults with glioma.

Patients with glioma present with complex palliative care needs throughout their disease trajectory. The life-limiting nature of gliomas and the presence of specific symptoms related to neurological deterioration necessitate an appropriate and early palliative care approach. The multidisciplinary palliative care task force of the European Association of Neuro-Oncology did a systematic review of the available scientific literature to formulate the best possible evidence-based recommendations for the palliative care of adult patients with glioma, with the aim to reduce symptom burden and improve the quality of life of patients and their caregivers, particularly in the end-of-life phase. When recommendations could not be made because of the scarcity of evidence, the task force either used evidence from studies of patients with systemic cancer or formulated expert opinion. Areas of palliative care that currently lack evidence and thus deserve attention for further research are fatigue, disorders of behaviour and mood, interventions for the needs of caregivers, and timing of advance care planning.

Dying comfortably in very old age with or without dementia in different care settings - a representative "older old" population study.

BACKGROUND: Comfort is frequently ranked important for a good death. Although rising numbers of people are dying in very old age, many with dementia, little is known about symptom control for "older old" people or whether care in different settings enables them to die comfortably. This study aims to examine, in a population-representative sample, associations between factors potentially related to reported comfort during very old people's final illness: physical and cognitive disability, place of care and transitions in their final illness, and place of death. METHODS: Retrospective analyses linked three data sources for n = 180 deceased study participants (68% women) aged 79-107 in a representative population-based UK study, the Cambridge City over-75s Cohort (CC75C): i) prospective in-vivo dementia diagnoses and cognitive assessments, ii) certified place of death records, iii) data from interviews with relatives/close carers including symptoms and "How comfortable was he/she in his/her final illness?" RESULTS: In the last year of life 83% were disabled in basic activities, 37% had moderate/severe dementia and 45% minimal/mild dementia or cognitive impairment. Regardless of dementia/cognitive status, three-quarters died following a final illness lasting a week or longer. 37%, 44%, 13% and 7% of the deceased were described as having been "very comfortable", "comfortable", "fairly comfortable" or "uncomfortable" respectively during their final illness, but reported symptoms were common: distress, pain, depression and delirium or confusion each affected 40-50%. For only 10% were no symptoms reported. There were ≥4-fold increased odds of dying comfortably associated with being in a care home during the final illness, dying in a care home, and with staying in place (dying at what death certificates record as "usual address"), whether home or care home, compared with hospital, but no significant association with disability or dementia/cognitive status, regardless of adjustment. CONCLUSIONS: These findings are consistent with reports that care homes can provide care akin to hospice for the very old and support an approach of supporting residents to stay in their care home or own home if possible. Findings on reported high prevalence of multiple symptoms can inform policy and training to improve older old people's end-of-life care in all settings.

Referral of patients for pre-implantation genetic diagnosis: A survey of obstetricians.

BACKGROUND: Pre-implantation genetic diagnosis (PGD) is a molecular diagnostic technique in which embryos are tested for specific genetic abnormalities to enable the selection of those unaffected by the condition. Previous Australian evidence suggested that women who are not informed about PGD by their obstetrician feel disempowered about not being given this option. AIMS: This study aimed to explore obstetrician knowledge regarding PGD and identify barriers to referral. MATERIALS AND METHODS: An invitation to the study with a link to an online questionnaire was e-mailed by the Royal Australian and New Zealand College of Obstetricians and Gynaecologists to their members. RESULTS: In total, 372 practising obstetricians responded. Perceptions of their patients' financial status and ability to access PGD were identified as barriers to referral. There was variability in referral for PGD and/or genetic services according to the clinical scenario and in the perceived appropriateness of PGD for different indications. Obstetricians who had undergone professional development related to PGD were more likely to discuss PGD than those who had not (χ2 = 6.44; P < 0.01). CONCLUSIONS: The results highlight the need for additional training, development of educational resources and awareness of appropriate referral pathways to ensure that those couples who are eligible for PGD are informed.

Unplanned, urgent and emergency care: what are the roles that EMS plays in providing for older people with dementia? An integrative review of policy, professional recommendations and evidence.

OBJECTIVE: To synthesise the existing literature on the roles that emergency medical services (EMS) play in unplanned, urgent and emergency care for older people with dementia (OPWD), to define these roles, understand the strength of current research and to identify where the focus of future research should lie. DESIGN: An integrative review of the synthesised reports, briefings, professional recommendations and evidence. English-language articles were included if they made any reference to the role of EMS in the urgent or emergency care of OPWD. Preparatory scoping and qualitative work with frontline ambulance and primary care staff and carers of OPWD informed our review question and subsequent synthesis. RESULTS: Seventeen literature sources were included. Over half were from the grey literature. There was no research that directly addressed the review question. There was evidence in reports, briefings and professional recommendations of EMS addressing some of the issues they face in caring for OPWD. Three roles of EMS could be drawn out of the literature: emergency transport, assess and manage and a 'last resort' or safety net role. CONCLUSIONS: The use of EMS by OPWD is not well understood, although the literature reviewed demonstrated a concern for this group and awareness that services are not optimum. Research in dementia care should consider the role that EMS plays, particularly if considering crises, urgent care responses and transitions between care settings. EMS research into new ways of working, training or extended paramedical roles should consider specific needs and challenges of responding to people with dementia.

Exploring attitudes and preferences for dementia screening in Britain: contributions from carers and the general public.

BACKGROUND: Dementia is becoming one of the most important emerging public health concerns in a generation. In societal approaches to the mitigation of major disease 'burden', population screening can sometimes provide an effective approach to improving detection of disease and outcomes. However the acceptability of a systematic population screening programme for dementia, to the British public, is not known. METHODS: A Patient and Public Involvement (PPI) event was organised to give members of the public from the East of England an opportunity to offer their perspectives and to comment on the findings of a systematic literature review looking at attitudes and preferences towards screening for dementia. The event was attended by 36 members of the public and eight national Alzheimer's Society Research Network volunteers. The morning discussion contained a presentation, which defined population screening for attendees but contained no reference to the findings of the review. In the afternoon, findings of the review were presented and a discussion on the results was facilitated. The discussions were recorded, transcribed and subjected to thematic analysis. The NVivo qualitative data software was used to facilitate this process. RESULTS: A total of 23 key themes emerged in relation to the carer and general population. The most frequent themes which emerged were the low levels of understanding and awareness around the dementia syndrome; the acceptability and validity of any tests; costs to the National Health Service (NHS); an individual's existing health status existing health status; financial/profit motive for screening; the inability to change prognosis; and the importance and availability of support. CONCLUSIONS: Factors such as personal beliefs, experiences and attitudes to health impact on decisions to be screened for dementia. A number of additional concerns were raised which were not previously identified in the systematic literature review. These were around the economic incentives for screening (profit motive), the provision of social support, and the economic/social impacts of screening programmes. This may reflect cultural differences in health and social care funding models between Britain and other countries where previous research was conducted.