Digital tools to support dementia diagnosis DOI Creative Commons

Aniek Marlina van Gils

Published: Aug. 23, 2024

In a changing dementia landscape, there is need for innovative and sustainable solutions to keep diagnosis treatment accessible scalable. The introduction of medication Alzheimer’s disease underscores the necessity precision medicine, as these drugs may be beneficial some patients but certainly not all. Even those who are eligible, medications carry risk side effects, further emphasizing shared decision-making effective communication. All aspects can supported by digital tools. However, despite positive attitudes end-users, many innovations remain unused. Therefore, this thesis aimed improve translation tools into daily memory clinic practice focusing on end-users (physicians, patients, care partners). key findings indicate that generally have towards (Chapters 2, 3, 6). Innovations such cognitive testing automated MRI quantification show promise improving with Lewy bodies (DLB) 4, 5) maintaining accessibility affordability (Chapter 7). assessment preferences needs led identification several requirements support implementation 6, 8). These factors centered around healthcare professionals, sufficient knowledge tool, time learn it become familiar it, assurance their clinical autonomy. considerations regarding tool itself ease use, usefulness, relevance, validity Furthermore, professionals use in specific human environment, where important include interaction between patient professional, preferences, ability tailor accordingly Finally, used organizational its depends setting, workload high. flexible adaptable fit seamlessly work routines, provision training, education, real-time (administrative) encourage adoption 7, future at our doorstep could provide keeping management research highlights challenging reality implementing identifying exploring gap innovation non-implementation practice. provides recommendations guide road successful implementation.

Language: Английский

Cognitively healthy centenarians are genetically protected against Alzheimer's disease DOI Creative Commons
Niccoló Tesi, Sven J. van der Lee, Marc Hulsman

et al.

Alzheimer s & Dementia, Journal Year: 2024, Volume and Issue: 20(6), P. 3864 - 3875

Published: April 18, 2024

Alzheimer's disease (AD) prevalence increases with age, yet a small fraction of the population reaches ages > 100 years without cognitive decline. We studied genetic factors associated such resilience against AD.

Language: Английский

Citations

12
Predicting Cognitive Decline in Amyloid-Positive Patients With Mild Cognitive Impairment or Mild Dementia DOI
Pieter J. van der Veere, Jeroen Hoogland, Leonie N.C. Visser

et al.

Neurology, Journal Year: 2024, Volume and Issue: 103(3)

Published: July 10, 2024

Cognitive decline rates in Alzheimer disease (AD) vary greatly. Disease-modifying treatments may alter cognitive trajectories, rendering their prediction increasingly relevant. We aimed to construct clinically applicable models of amyloid-positive patients with mild impairment (MCI) or dementia.

Language: Английский

Citations

6
Rationale and design of the ABOARD project (A Personalized Medicine Approach for Alzheimer's Disease) DOI Creative Commons

Maria A. E. Dreves,

Argonde C. van Harten, Leonie N.C. Visser

et al.

Alzheimer s & Dementia Translational Research & Clinical Interventions, Journal Year: 2023, Volume and Issue: 9(2)

Published: April 1, 2023

The key to stopping Alzheimer's disease (AD) lies in the pre-dementia stages, with goal stop AD before dementia has started. We present rationale and design of ABOARD (A Personalized Medicine Approach for Disease) project, which aims invest personalized medicine AD. is a Dutch public-private partnership 32 partners, connecting stakeholders from scientific, clinical, societal perspective. 5-year project structured into five work packages on (1) diagnosis, (2) prediction, (3) prevention, (4) patient-orchestrated care, (5) communication dissemination. functions as network organization professionals interact cross-sectorally. strong junior training program "Juniors On Board." Project results are shared society through multiple resources. By including relevant partners involving citizens at risk, patients, their care builds toward future

Language: Английский

Citations

14
Characterising tandem repeat complexities across long-read sequencing platforms with TREAT and otter DOI Creative Commons
Niccoló Tesi, Alex Salazar, Yaran Zhang

et al.

bioRxiv (Cold Spring Harbor Laboratory), Journal Year: 2024, Volume and Issue: unknown

Published: March 17, 2024

Tandem repeats (TR) play important roles in genomic variation and disease risk humans. Long-read sequencing allows for the accurate characterisation of TRs, however, underlying bioinformatics perspectives remain challenging. We present otter TREAT: is a fast targeted local assembler, cross-compatible across different platforms. It integrated TREAT, an end-to-end workflow TR characterisation, visualisation analysis multiple genomes. In comparison with existing tools based on long-read data from both Oxford Nanopore Technology (ONT, Simplex Duplex) PacBio (Sequel 2 Revio), TREAT achieved state-of-the-art genotyping motif accuracy. Applied to clinically relevant TREAT/otter significantly identified individuals pathogenic expansions. When applied case-control setting, we replicated previously reported associations TRs Alzheimer's Disease, including those near or within APOC1 (p=2.63x10-9), SPI1 (p=6.5x10-3) ABCA7 (p=0.04) genes. finally used systematically evaluate potential biases when using diverse ONT datasets. showed that, rare cases (0.06%), suffers coverage drops disease-associated RFC1 Such can lead mis-genotyping, hampering alleles. Taken together, our accurately genotype technologies minimal requirements, allowing comparisons human genomes, broad applications research clinical fields.

Language: Английский

Citations

4
Exploring interdisciplinary perspectives on the implementation of personalized medicine and patient-orchestrated care in Alzheimer's disease: A qualitative study within the ABOARD research project DOI Creative Commons
Tanja J. de Rijke,

Dianne Vasseur,

Wiesje M. van der Flier

et al.

Journal of Alzheimer s Disease, Journal Year: 2025, Volume and Issue: unknown

Published: March 21, 2025

Background The concepts of ‘ personalized medicine ’ and patient-orchestrated care in Alzheimer's disease (AD) lack standard conceptualization, which presents challenges for collaborative interdisciplinary care. Objective We explored the interpretations perspectives professionals involved work on a large-scale project, “ABOARD”, with aim to implement AD. Methods Semi-structured interviews were conducted 30 audio-recorded. Two researchers independently coded data inductively, followed by thematic analysis. Results According across different disciplinary backgrounds (mean age 45.7 years; 53.3% female), pertains relevant options that an individual has, informed biomedical psychosocial factors, whereas captures factors decision-making process. Professionals differed their views regarding its desirability feasibility. viewed as similar professionals, both involve personal preferences while ultimately assigning responsibility clinician. However, implementation persist, no differences found between clinicians other AD-related professionals. Conclusions AD have shared but Personal are seen part , not yet reflected definitions field beyond. Critical discussions existing doubts necessary . Multi-level changes needed concepts, warrants stakeholder involvement well support resources from entire field.

Language: Английский

Citations

0
Feasibility and acceptability of remote APOE-genotyping among research volunteers of an online recruitment registry (The Dutch Brain Research Registry) DOI Creative Commons
Lisa Waterink, Sven J. van der Lee,

Dionne M. Nijland

et al.

The Journal of Prevention of Alzheimer s Disease, Journal Year: 2025, Volume and Issue: unknown, P. 100099 - 100099

Published: Feb. 1, 2025

Participant recruitment for preclinical Alzheimer's disease (AD) prevention studies is challenging. Online registries facilitate large scale prescreening of individuals at risk AD to accelerate recruitment. APOE-prescreening has the potential better identify at-risk individuals. This study investigated feasibility and acceptability at-home APOE-genotyping in cognitively-normal registrants an online registry. We invited 9,287 Dutch Brain Research Registry (DBRR) aged 50 75 APOE-genotype testing, without receiving results. Feasibility was measured by participation ratio (participation/interested), swab-return (returned-swabs/participation), genotyping-success (analyzed swabs/returned swabs). Acceptability with questions about information provision project scope. explored potentially reducing screen-failures. high 0.89 (2,886/3,251), 0.90 (2,886/2,597), 0.99 (2,558/2,597). high, as participants were content (87 %-97 %, n= 1,709-1,894), which also well understood (91 %-93 n = 1,772-1,802). Among successful-analyzed swabs (n 2,558), 27 % APOE-ε4 heterozygote 703), 2 homozygote 60). Prescreening on a positive family history leads third reduction number invitations needed one carrier. Our results suggest that APOE-ɛ4 genotyping research registry feasible, received could be used prescreen studies. Adding before invitation APOE-genotyping, would further improve process reduce screen failures when identifying carriers.

Language: Английский

Citations

0
Silencing of lncRNA PRR34‐AS1 Alleviates Alzheimer's Disease by Targeting miR‐29c‐3p to Regulate Microglia Inflammation DOI
Xing Cheng, Hongfang Chen, Jianwei Wang

et al.

Psychogeriatrics, Journal Year: 2025, Volume and Issue: 25(3)

Published: May 1, 2025

ABSTRACT Objective This study aims to investigate the role of long non‐coding RNA (lncRNA) PRR34 antisense 1 (PRR34‐AS1) and microRNA (miR)‐29c‐3p in Alzheimer's disease (AD) explore their mechanisms. Methods The included 35 AD patients healthy controls. In vitro experiments were conducted using microglial cell lines HMC3 BV2, which treated with Aβ25‐35, gene knockout or overexpression performed verify function target genes. PRR34‐AS1 miR‐29c‐3p levels serum cells detected RT‐qPCR. Dual luciferase reporter assay pull‐down validate interaction between miR‐29c‐3p. CCK‐8 flow cytometry used assess viability apoptosis. Results findings showed that elevated patients, while significantly decreased, a negative correlation observed them. Silencing alleviated decline increase apoptosis induced by Aβ25‐35 inhibited release pro‐inflammatory factors. Additionally, direct was confirmed. counteracted anti‐inflammatory effects PRR34‐AS1. Conclusion discovered PRR34‐AS1/miR‐29c‐3p axis played crucial Aβ25‐35‐induced model. inhibition can alleviate neuroinflammation cells, serving as significant mediator this process.

Language: Английский

Citations

0
Precision medicine in neurodegeneration: the IHI-PROMINENT project DOI Creative Commons
Ashley Tate, Marc Suárez‐Calvet, Mats Ekelund

et al.

Frontiers in Neurology, Journal Year: 2023, Volume and Issue: 14

Published: Aug. 2, 2023

Neurodegenerative diseases are one of the most important contributors to morbidity and mortality in elderly. In Europe, over 14 million people currently living with dementia, at a cost 400 billion EUR annually. Recent advances diagnostics approval for new pharmaceutical treatments Alzheimer's disease (AD), common etiology heralds beginning precision medicine this field. However, their implementation will challenge an already over-burdened healthcare systems. There is need innovative digital solutions that can drive related clinical pathways optimize personalize care delivery. Public-private partnerships ideal vehicles tackle these challenges. Here we describe Innovative Health Initiative (IHI) public-private partnership project PROMINENT has been initiated by connecting leading dementia researchers, medical professionals, patients partners latest health technologies using based platform. The builds upon knowledge implemented tools from several collaborative initiatives address models early detection, diagnosis, monitoring AD other neurodegenerative disorders. aims provide support improvement efforts each aspect pathway including prognosis, treatment, data collection real world evidence effectiveness studies. Ultimately expected lead cost-effective improved outcomes.

Language: Английский

Citations

8
Recognition of cognitive dysfunction in hospitalised older patients: a flash mob study DOI Creative Commons
F. C. Visser, Marlise E. A. van Eersel,

Liesbeth Hempenius

et al.

BMC Geriatrics, Journal Year: 2024, Volume and Issue: 24(1)

Published: Jan. 16, 2024

Abstract Background It is important that healthcare professionals recognise cognitive dysfunction in hospitalised older patients order to address associated care needs, such as enhanced involvement of relatives and extra functional support. However, studies analysing medical records suggest have low awareness patients. In this study, we investigated the prevalence patients, percentage which was recognised by professionals, variables were with recognition. Methods A multicentre, nationwide, cross-sectional observational study conducted on a single day using flash mob design thirteen university general hospitals Netherlands. Cognitive function assessed aged ≥ 65 years old, who admitted surgical wards. Mini-Cog score < 3 out 5 indicated dysfunction. The attending nurses physicians asked whether they suspected their patient. Variables recognition multilevel multivariable logistic regression analyses. Results 347 757 enrolled (46%) showed 137 323 (42%) 156 (48%). 135 (42%), not either nurse or physician. Recognition better at lower score, best lowest scores. Patients geriatric department (69% 72% physicians). Conclusion common poorly professionals. This highlights need improve particularly individuals less apparent high proportion suggests it may be beneficial provide tailored for all

Language: Английский

Citations

2
Doing the Right Thing? General Practitioners' Considerations in Achieving a Timely Dementia Diagnosis DOI Creative Commons
F. C. Visser, Marlise E. A. van Eersel, Hester J. van der Zaag–Loonen

et al.

International Journal of Geriatric Psychiatry, Journal Year: 2024, Volume and Issue: 39(9)

Published: Sept. 1, 2024

ABSTRACT Objectives Timely detection and diagnosis of dementia are beneficial for providing appropriate, anticipatory care preventing acute situations. However, initiating diagnostic testing is a complex dynamic process that requires general practitioners (GPs) to balance competing priorities. Previously identified barriers, such as lack time, knowledge, resources, may not fully represent the challenges involved in this process. Therefore, study aimed examine GPs' more implicit considerations on starting trajectory dementia. Methods A qualitative was conducted using semi‐structured interviews with 14 Dutch GPs who were purposively selected through maximum variation sampling. The interview transcripts inductively analyzed multiple rounds by multidisciplinary research team thematic analysis. Results can be summarized three main themes interconnected: (1) ‘the presumed patient's willingness’, is, facing dilemma wanting respect patient autonomy cases denial or an absence request, while at same time identifying problem feeling urgency act; (2) GP's attempt harm’, balancing between harm and/or relatives burdensome label possible negative consequences late diagnosis; (3) ‘time, trust, interprofessional collaboration influence timeliness work‐up’, available consultations, factor, confidence, trustful physician–patient relationship. Conclusions This revealed important ethical dilemmas regarding principle doing no lie behind practical GP barriers Time, found facilitate determining right decision timing each individual their relatives. Future could explore value aids explicitly involve patients act.

Language: Английский

Citations

1