The NIA-AA research framework proposes a purely biological definition of Alzheimer's disease (AD). This implies that AD can be diagnosed based on biomarker abnormalities, irrespective of clinical ...manifestation. While this brings opportunities, it also raises challenges. We aimed to provide an overview of considerations regarding the disclosure of AD pathology before the onset of dementia.
A systematic literature review was conducted and reported according to PRISMA guidelines. We searched PubMed, Embase, APA PsycINFO, and Web of Science Core Collection (on 10 December 2020) for references on conveying AD biomarker results to individuals without dementia. Our query combined variations on the terms Alzheimer's disease, disclosure, or diagnosis, preclinical or prodromal, and biomarkers. Two reviewers independently screened the resulting 6860 titles and abstracts for eligibility and examined 162 full-text records for relevance. We included theoretical articles in English, on communicating amyloid and/or tau results to individuals with mild cognitive impairment, subjective cognitive decline, or normal cognition. MAXQDA-software was used for inductive data analysis.
We included 27 publications. From these, we extracted 26 unique considerations, which we grouped according to their primary relevance to a clinical, personal, or societal context. Clinical considerations included (lack of) validity, utility, and disclosure protocols. Personal considerations covered psychological and behavioral implications, as well as the right to (not) know. Finally, societal considerations comprised the risk of misconception, stigmatization, and discrimination. Overall, views were heterogeneous and often contradictory, with emphasis on harmful effects.
We found 26 diverse and opposing considerations, related to a clinical, personal, or societal context, which are relevant to diagnosing AD before dementia. The theoretical literature tended to focus on adverse impact and rely on common morality, while the motivation for and implications of biomarker testing are deeply personal. Our findings provide a starting point for clinicians to discuss biomarker-based diagnosis with their patients, which will become even more relevant in light of the conditional approval of a first disease-modifying drug for AD.
Growing evidence suggests dementia incidence can be reduced through prevention programs targeting risk factors. To accelerate the implementation of such prevention programs, a new generation of brain ...health services (BHS) is envisioned, involving risk profiling, risk communication, risk reduction, and cognitive enhancement. The purpose of risk communication is to enable individuals at risk to make informed decisions and take action to protect themselves and is thus a crucial step in tailored prevention strategies of the dementia incidence. However, communicating about dementia risk is complex and challenging.In this paper, we provide an overview of (i) perspectives on communicating dementia risk from an ethical, clinical, and societal viewpoint; (ii) insights gained from memory clinical practice; (iii) available evidence on the impact of disclosing APOE and Alzheimer's disease biomarker test results gathered from clinical trials and observational studies; (iv) the value of established registries in light of BHS; and (v) practical recommendations regarding effective strategies for communicating about dementia risk.In addition, we identify challenges, i.e., the current lack of evidence on what to tell on an individual level-the actual risk-and on how to optimally communicate about dementia risk, especially concerning worried yet cognitively unimpaired individuals. Ideally, dementia risk communication strategies should maximize the desired impact of risk information on individuals' understanding of their health/disease status and risk perception and minimize potential harms. More research is thus warranted on the impact of dementia risk communication, to (1) evaluate the merits of different approaches to risk communication on outcomes in the cognitive, affective and behavioral domains, (2) develop an evidence-based, harmonized dementia risk communication protocol, and (3) develop e-tools to support and promote adherence to this protocol in BHSs.Based on the research reviewed, we recommend that dementia risk communication should be precise; include the use of absolute risks, visual displays, and time frames; based on a process of shared decision-making; and address the inherent uncertainty that comes with any probability.
Background
Because of the shift towards earlier diagnosis of dementia and/or Alzheimer's disease (AD), increasing numbers of individuals with subjective cognitive decline (SCD) and mild cognitive ...impairment (MCI) are seen in memory clinics. Yet, evidence indicates that there is room for improvement when it comes to tailoring of the diagnostic work‐up to the needs of individual patients. To optimize the quality of care, we explored patients' perspectives regarding the diagnostic work‐up at a specialized memory clinic.
Methods
This interview study was conducted at Karolinska University Hospital (Sweden). The comprehensive diagnostic work‐up for dementia at the memory clinic in Solna is conducted within 1 week. A sample of 15 patients (8 female; mean age = 61 years range 50–72; 11 SCD, 1 MCI and 3 AD dementia) was purposively selected for a series of three semistructured interviews, focussing on (1) needs and expectations (during the week of diagnostic testing), (2) experiences (within 2 weeks after test‐result disclosure) and (3) reflections and evaluation (3 months after disclosure). Transcribed audio‐recorded data were analyzed using thematic content analysis (using MaxQDA software).
Results
Three key themes were identified: (1) the expectations and motivations of individuals for visiting the memory clinic strongly impacted their experience; (2) the diagnostic work‐up impacted individuals psychosocially and (3) the diagnostic work‐up provided an opportunity to motivate individuals to adopt a healthier lifestyle.
Conclusion
Our findings underscore the importance of enquiring about the expectations and needs of individuals referred to a specialized memory clinic, allowing for expectation management and personalization of provided information/advice, and potentially informing the selection of patients in need of a comprehensive diagnostic work‐up. Structural guidance might be needed to support those with SCD and MCI to help them cope with uncertainty, potentially resolve their issues, and/or stimulate brain health.
Patient or Public Contribution
We gathered the perspectives of 15 individuals who had been referred to the memory clinic at three different time points through semistructured interviews, and these interviews were the primary data source.
Effective communication in cancer care requires complex communication skills of healthcare professionals (HCPs), which can be advanced by communication skills training (CST). The number of empirical ...studies on CST has grown steadily over the last decade. However, controversies on CST abound. The aim of this review of reviews is to summarize evidence for the effectiveness of CST in oncology as well as for effective CST features (intensity, format and content) and to synthesize the current opinion on CST.
The evidence synthesized from multiple reviews supported the effect of CST on HCPs' communication skills. Yet, the certainty of evidence was limited as studies were diverse and effects heterogeneous. Furthermore, limited evidence was found for effective CST intensity, format and content. Authors of the reviews advocated further high-quality research with robust outcome measurement to establish the most essential features of CST and recommended implementation of CST in the standard training of HCPs with continuous supervision.
CST can probably improve some aspects of HCPs' communication skills. Despite the uncertain evidence, implementation of CST into clinical practice is widely advocated and specific recommendations regarding intensity and format are provided. Evidence to justify and substantiate implementation efforts is needed.
Purpose: Dementia is often associated with old age but can also occur in midlife. The latter is commonly referred to as young-onset dementia (YOD). The diagnosis not only has an impact on the persons ...with YOD but also on their family members. For family members, the diagnosis changes their lives, as responsibilities and roles alter when the care and wellbeing of the relative increasingly come into focus. The aim of this study was to explore family members' experiences of sharing lives with a relative diagnosed with YOD--from onset of symptoms until the person relocated to a nursing home. Patients and Methods: The study has a qualitative approach with in-depth interviews. In total, the study included 15 family members aged greater than or equal to 18 years participated, all with a relative diagnosed with dementia before the age of 65. At the time of the interview, all had a relative living in a nursing home. The interviews were analyzed using thematic analysis. Results: Two key themes were identified: Becoming responsible and Dealing with the situation. Family members found themselves increasingly responsible for many parts of their relatives' lives and forced to make decisions on their behalf. This was experienced as being lonely, as family members wished to share their responsibility. Despite of their efforts to control and deal with their situation, family members reported a lack of power to influence certain factors, such as access to appropriate healthcare services, causing feelings of distress. Conclusion: These findings emphasize the need of improved and tailored support and guidance for family members of persons with YOD. Further, the findings highlight the importance of increased knowledge and awareness among social workers and other healthcare professionals regarding support to family members of persons with YOD. Keywords: YOD, relative, psychosocial support, qualitative, health care system
In the context of the development of pharmaceutical interventions, expectations and experiences of participants are essential. Their insights may be particularly helpful to address the challenges of ...recruiting and retaining participants for Alzheimer's disease (AD) clinical trials. We examined clinical trial participants' experiences to optimize trial design in Alzheimer's disease (AD).
In this mixed-methods study, we included adults who participated in sponsor-initiated AD trials at Brain Research Center, a clinical trial organization in the Netherlands. Participants (N = 71, age 69 ± 6.5, 54%F, 19 cognitively normal (CN), 19 mild cognitive impairment (MCI), and 33 AD dementia) first completed an online survey. Diagnostic group differences were investigated using chi-square tests or one-way ANOVAs. Next, a subsample (N = 12; 8 = CN, 4 = MCI) participated in focus groups to gain in-depth insight into their opinions on optimizing trial design from a participants' point of view. Audio recordings from focus group interviews were transcribed verbatim and analyzed by thematic content analysis by two independent researchers.
Most reported motives for enrolment included "to benefit future generations" (89%), followed by "for science" (66%) and "better monitoring" (42%). Frequent suggestions for increasing willingness to participate included a smaller chance to receive placebo (n = 38, 54%), shorter travel times (n = 27, 38%), and sharing individual results of different assessments (n = 57, 80%), as well as receiving trial results (n = 52, 73). Highest visual analogue burden scores (0-100) were found for the lumbar puncture (M = 47.2, SD = 38.2) and cognitive assessments (M = 27.2, SD = 25.7). Results did not differ between diagnostic groups, nor between patient and caregiver participants (all p-values>.05). Two additional themes emerged from the focus groups: "trial design," such as follow-up visit(s) after participating, and "trial center," including the relevance of a professional and empathic staff.
Relevant factors include expectation management and careful planning of high-burden assessments, provision of individual feedback, and prioritizing professionalism and empathy throughout conduct of the trial. Our findings provide insight into participants' priorities to increase willingness to participate and can be used to optimize trial success.
Everyday functioning is a clinically relevant concept in dementia, yet little is known about the clinical meaningfulness of scores on functional outcome measures. We aimed to establish clinically ...meaningful scoring categories for the Amsterdam Instrumental Activities of Daily Living Questionnaire (A-IADL-Q), representing no, mild, moderate and severe problems in daily functioning.
Informal caregivers (n = 6) of memory-clinic patients and clinicians (n = 13), including neurologists and nurse specialists, working at various memory clinics in The Netherlands. In focus groups, participants individually ranked nine summaries of fictional patients from least to most impairment in daily functioning. Then, they placed bookmarks to demarcate the thresholds for mild, moderate and severe problems. Individual bookmark placements were then discussed to reach consensus. Clinicians completed a survey in which they placed bookmarks, individually.
While individual categorizations varied somewhat, caregivers and clinicians generally agreed on the thresholds, particularly about the distinction between 'no' and 'mild' problems. Score categories were no problems (T-score ≥ 60), mild problems (T-score 50-59), moderate problems (T-score 40-49), and severe problems in daily functioning (T-score < 40), on a scale ranging 20-80.
Our findings provide categories for determining the level of functional impairment, which can facilitate interpretation of A-IADL-Q scores. These categories can subsequently be used by clinicians to improve communication with patients and caregivers.
Studies which examined the association between sedentary behavior (SB) and cognitive function have presented equivocal findings. Mentally active/inactive sedentary domains may relate differently to ...cognitive function. We examined associations between SB and cognitive function, specifically focusing on different domains. Participants were recruited from the Nijmegen Exercise Study 2018 in the Netherlands. SB (h/day) was measured with the Sedentary Behavior Questionnaire. Cognitive function was assessed with a validated computer self-test (COST-A), and a z-score calculated for global cognitive function. Multivariate linear regression assessed associations between tertiles of sedentary time and cognitive function. Cognition tests were available from 2821 participants, complete data from 2237 participants (43% female), with a median age of 61 IQR 52–67 and a mean sedentary time of 8.3 ± 3.2 h/day. In fully adjusted models, cognitive function was significantly better in participants with the highest total sedentary time (0.07 95% CI 0.02–0.12, P = 0.01), work-related sedentary time (0.13 95% CI 0.07–0.19, P < 0.001), and non-occupational computer time (0.07 95% CI 0.02–0.12, P = 0.01), compared to the least sedentary. Leisure sedentary time and time spent sedentary in the domains TV, reading or creative time showed no association with cognitive function in final models (all P > 0.05). We found a strong, independent positive association between total SB and cognitive function in a heterogenous population. This relation was not consistent across different domains, with especially work- and computer-related SB being positively associated with cognitive function. This highlights the importance of assessing the various sedentary domains in understanding the relation between sedentary time and cognitive function.
•Higher self-rated total sedentary time is associated with better cognitive function.•Distinct sedentary domains relate differently to cognitive function.•Higher work-related sedentary times are associated with better cognitive function.•Higher computer sedentary times are associated with better cognitive function.•Leisure sedentary time is not associated with cognitive function.
Apolipoprotein-E (APOE) genetic testing for Alzheimer's disease is becoming more important as clinical trials are increasingly targeting individuals carrying APOE-ε4 alleles. Little is known about ...the interest in finding out one's genetic risk for Alzheimer's disease in the general population. Our objective was to examine this in a sample of cognitively normal (CN) adults within a population-based online research registry with the goal to implement APOE-ε4 status for trial recruitment.
An online survey was completed by 442 CN participants between the age of 49 and 75 years (56% female) from the Dutch Brain Research Registry. The survey assessed interest in participation in research into, and disclosure of, genetic risk for dementia. The survey assessed interest in participation in research into, and disclosure of, genetic risk for dementia and knowing their genetic risk in different hypothetical risk scenarios (10%, 30%, and 50% genetic risk for dementia at age 85, corresponding to APOEε2/ε2 or ε2/ε3, APOEε3/ε4 or ε2ε4, and APOE-ε4/ε4 genotypes). Cochran's Q and post hoc McNemar tests were used to analyse differences in frequencies across scenarios.
Most participants were interested in participating in research into and disclosure of their genetic risk (81%). The most reported reason was to contribute to scientific research (94%). Interest was higher in males, whilst lower-educated participants were more often undecided. When provided with different risk scenarios, interest in knowing their risk was somewhat higher in the scenarios with higher risk, i.e. in the 50% (79%) compared to the 10% scenario (73%;χ
(2) = 7.98; p = .005). Most individuals expected they would share their genetic risk with close relatives (77-89%), would participate in medication trials (79-88%), and would make long-term arrangements, e.g. retirement, health care, will (69-82%), with larger proportions for scenarios with higher hypothetical genetic risk.
Our findings indicate that the vast majority of CN adults participating in a research registry expresses interest in AD genetic risk research and disclosure. Interest in genetic risk disclosure is higher in scenarios corresponding to the APOE-ε4 genotype. This suggests APOE-ε4 screening within an online research registry is potentially a well-received method to accelerate inclusion for trials.
Uncertainty is increasingly discussed during genetic counseling due to innovative techniques, e.g., multigene panel testing. Discussions about uncertainty may impact counselees variably, depending on ...counselors' communication styles. Ideally, the discussion of uncertainty enables counselees to cope with uncertainty and make well-informed decisions about testing. We examined the impact of how counselors convey uncertainty and address counselees' uncertainty, and explored the role of individual characteristics. Therefore, a randomized controlled experiment using videos was conducted. Former counselees (N = 224) viewed one video depicting a genetic consultation about multigene panel testing. The extent of counselors' communication of uncertainty (comprehensive vs. the essence) and their response to counselees' uncertainty expressions (providing information vs. providing space for emotions vs. normalizing and counterbalancing uncertainty) were systematically manipulated. Individual characteristics, e.g., uncertainty tolerance, were assessed, as well as outcome variables (primary outcomes: feelings of uncertainty and information recall). No effects were found on primary outcomes. Participants were most satisfied when the essence was communicated, combined with providing information or providing space responses (p = 0.002). Comprehensive information resulted in less perceived steering toward testing (p = 0.005). Participants with lower uncertainty tolerance or higher trait anxiety were less confident about their understanding when receiving comprehensive information (p = 0.025). Participants seeking information experienced less uncertainty (p = 0.003), and trusted their counselor more (p = 0.028), when the counselor used information providing responses. In sum, the impact of discussing uncertainty primarily depends on individual characteristics. Practical guidelines should address how to tailor the discussion of uncertainty.
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