LonDownsPREVENT: A longitudinal study of the mechanisms of cerebral amyloid angiopathy and neurodegeneration in Down syndrome to inform AD prevention
Lead Research Organisation:
King's College London
Department Name: Forensic and Neurodevelopmental Science
Abstract
This project will explore changes in the blood and brain that happen as people with Down syndrome (DS) get older. People with DS are at ultra-high risk of developing Alzheimer's disease (AD), because differences in their genes lead to excess production of a protein called 'amyloid', which can eventually clump together in the brain in plaques. These plaques are a hallmark of Alzheimer's disease and are found in all adults with DS by their mid-30s. Amyloid protein can also enter the blood vessels in the brain, called cerebral amyloid angiopathy (CAA) and can cause brain bleeding and strokes. We are interested in the mechanisms that link these two forms of amyloid deposits with damage to the brain (neurodegeneration) and subsequent decline in abilities in people with DS. Because people with DS have this excess of amyloid, but a lower risk of other health problems that can affect the blood vessels and cause dementia, such as smoking or high blood pressure, they are an important population for understanding how amyloid deposits eventually lead to AD.
Despite these known risks, people with DS have historically been excluded from prevention or treatment trials, for ethical and logistical reasons. As all adults with DS will have the hallmark plaques of AD, and most will go on to develop clinical dementia, we argue that there is an ethical imperative to research into ways to treat, or even prevent, this increasing health burden. To develop these much-needed clinical trials in the DS population, we require sound data showing how different biomarkers, which can include proteins like amyloid measured by blood samples, or MRI scans of brain structure, change over time in adults with DS, and how these changes relate to the clinical progression of dementia.
In our previous work, we recruited a group of around 450 adults with DS who are keen to be involved in research, and have developed a battery of sensitive cognitive tests that can be used to track decline in this population. We also found that a blood-based protein called 'neurofilament light' (NfL) can provide an important biomarker of neurodegeneration in adults with DS. For the current study, we want to see how different blood based biomarkers (including measures of NfL and amyloid) and changes in the structure and blood flow of the brain measured through magnetic resonance imaging (MRI) scans are related to CAA and the clinical symptoms of AD in DS.
We plan to see 80 adults with DS aged 35-54 who do not yet have a diagnosis of dementia three times, at 12-month intervals. At each time point, participants will provide blood samples, have an MRI scan and complete cognitive tests that will assess their abilities, including IQ, memory, reaction time and verbal skills. We will also collect information from caregivers regarding changes in everyday skills, personality and behaviour. We will then explore how each of these measures changes over time and use data models to show the order that changes in different biomarkers and brain structure happen, and how these changes are related to the clinical symptoms of dementia. We will also complete the same tests once in a group of 40 younger adults with DS aged 18-30 to act as a control group who will not be showing the same degree of amyloid burden as the older adults.
This project will provide essential information about changes in the brain that happen with AD in people with DS, and will provide important data to allow the development of future clinical trials. We hope to unpick some of the mechanisms that lead to AD, which will be of importance not only for people with DS, but for all people who develop AD.
Despite these known risks, people with DS have historically been excluded from prevention or treatment trials, for ethical and logistical reasons. As all adults with DS will have the hallmark plaques of AD, and most will go on to develop clinical dementia, we argue that there is an ethical imperative to research into ways to treat, or even prevent, this increasing health burden. To develop these much-needed clinical trials in the DS population, we require sound data showing how different biomarkers, which can include proteins like amyloid measured by blood samples, or MRI scans of brain structure, change over time in adults with DS, and how these changes relate to the clinical progression of dementia.
In our previous work, we recruited a group of around 450 adults with DS who are keen to be involved in research, and have developed a battery of sensitive cognitive tests that can be used to track decline in this population. We also found that a blood-based protein called 'neurofilament light' (NfL) can provide an important biomarker of neurodegeneration in adults with DS. For the current study, we want to see how different blood based biomarkers (including measures of NfL and amyloid) and changes in the structure and blood flow of the brain measured through magnetic resonance imaging (MRI) scans are related to CAA and the clinical symptoms of AD in DS.
We plan to see 80 adults with DS aged 35-54 who do not yet have a diagnosis of dementia three times, at 12-month intervals. At each time point, participants will provide blood samples, have an MRI scan and complete cognitive tests that will assess their abilities, including IQ, memory, reaction time and verbal skills. We will also collect information from caregivers regarding changes in everyday skills, personality and behaviour. We will then explore how each of these measures changes over time and use data models to show the order that changes in different biomarkers and brain structure happen, and how these changes are related to the clinical symptoms of dementia. We will also complete the same tests once in a group of 40 younger adults with DS aged 18-30 to act as a control group who will not be showing the same degree of amyloid burden as the older adults.
This project will provide essential information about changes in the brain that happen with AD in people with DS, and will provide important data to allow the development of future clinical trials. We hope to unpick some of the mechanisms that lead to AD, which will be of importance not only for people with DS, but for all people who develop AD.
Technical Summary
The proposed research focuses uniquely on the earliest stages of AD in DS, a population with ultra-high genetic risk for dementia (>90% at age 65), to understand the mechanisms leading to CAA and neurodegeneration in patients with "pure" amyloid-driven pathology. We will conduct a longitudinal study with sequential MRI imaging (3 timepoints 12 months apart) in 80 DS participants with AD pathology but without dementia diagnoses aged 35 - 54 years (i.e. in preclinical and prodromal stages of AD), as well as baseline assessments in a younger, healthy DS group aged 18-30 (n = 40). Participants will complete clinical assessments using our validated, sensitive tools and donate blood samples for DNA analysis (APOE and DS subtype) and plasma biomarkers (Neurofilament light (NfL), Abeta-42,40 and Tau using ultrasensitive SIMOA assays). Using MRI, we aim to deliver critical data on 1) cerebrovascular alterations using structural MRI markers of CAA (e.g. cerebral microbleeds, cSS) and to quantify cerebral blood flow (arterial spin labeling), and 2) AD progression using both diffusion MRI (microstructural changes) as early marker of AD, and structural MRI (macroscopic changes and cortical atrophy). At the plasma biomarker level, this will allow us to explore hypotheses related to the sequence of events leading to amyloid-induced CAA, using Abeta 42/40 ratio as marker of amyloid deposition, Tau for neuronal response and NfL as marker of neurodegeneration. At the imaging level, we will consider the role of cerebral blood flow alterations and changes in MRI diffusion as early surrogate markers for cognitive decline, with atrophy developing subsequently. DS individuals are typically excluded from clinical trials of new amyloid-targeting treatment to prevent or delay AD because of a lack of biomarker and progression data and concern about safety. We will deliver longitudinal, multimodal data to describe the parameters of AD progression which can then be used to plan such trials.
Planned Impact
The work set out in this proposal will result in several outputs, with clear impact at the academic, clinical and patient levels:
1. Cross-sectional and longitudinal multi-modal observational data on preclinical and prodromal features of AD in DS (from month 18)
2. Associated biobank(s) of DS plasma samples (from month 18)
3. Comparison of AD features and progression on MRI and biomarkers in DS and sAD (from month 18)
4. Longitudinal data on AD mechanisms in DS using MRI and plasma biomarkers (from month 30)
5. DNA and SNP data to expand the data available to the Horizon21 Down syndrome genomic consortium (from month 18)
6. Progression models of AD in DS (from month 30)
7. Modelling of aspects of clinical trial design(s) suitable for AD prevention trials in DS (from month 30)
Impact at the academic level:
By studying DS, an ultra-high risk group for amyloid-associated AD, we will deliver progression models that will improve understanding of the mechanisms leading to neurodegeneration and dementia. The data generated as part of this project will benefit the wider research community, including researchers (basic and clinical) in the AD and DS fields and associated disciplines by contributing to current models of AD, and by generating new hypotheses that can be pursued in future research. Improved understanding of the mechanisms of progression may also help to identify new treatment targets. The project will also facilitate sharing of techniques, skills and biobanks, and our data and bioresources will (in due course) be available to other AD researchers. Given the relative rarity of such DS resources, it will open up new avenues for research.
Impact at the clinical and patient level:
DS is the most common cause of intellectual disability, as well as the most common genetic cause of Alzheimer's disease world-wide. This exceptionally high neuropathological burden means that AD is now the main cause of death in adults with DS. It is also costly on a personal and caregiver level and for the NHS. Impacts at the clinical level are expected to include data on MRI and plasma biomarkers of AD progression during the preclinical and prodromal stages that will inform diagnosis and disease monitoring, and help to provide more refined estimates of prognosis. A better understanding of the cerebrovascular alterations associated with amyloid deposition may lead to the identification of potential treatment and prevention strategies, not only for individuals with Down syndrome, but also for other patient groups at risk for AD. Impacts for patients include the availability of better information for carers and individuals with DS who are at risk of AD, particularly on the cerebrovascular complications of AD. Ultimately, the data generated by this proposed study will enable clinical trials of treatments to prevent or delay AD in DS individuals. The results of such trials will not only benefit DS individuals, but also other high-risk patient groups.
1. Cross-sectional and longitudinal multi-modal observational data on preclinical and prodromal features of AD in DS (from month 18)
2. Associated biobank(s) of DS plasma samples (from month 18)
3. Comparison of AD features and progression on MRI and biomarkers in DS and sAD (from month 18)
4. Longitudinal data on AD mechanisms in DS using MRI and plasma biomarkers (from month 30)
5. DNA and SNP data to expand the data available to the Horizon21 Down syndrome genomic consortium (from month 18)
6. Progression models of AD in DS (from month 30)
7. Modelling of aspects of clinical trial design(s) suitable for AD prevention trials in DS (from month 30)
Impact at the academic level:
By studying DS, an ultra-high risk group for amyloid-associated AD, we will deliver progression models that will improve understanding of the mechanisms leading to neurodegeneration and dementia. The data generated as part of this project will benefit the wider research community, including researchers (basic and clinical) in the AD and DS fields and associated disciplines by contributing to current models of AD, and by generating new hypotheses that can be pursued in future research. Improved understanding of the mechanisms of progression may also help to identify new treatment targets. The project will also facilitate sharing of techniques, skills and biobanks, and our data and bioresources will (in due course) be available to other AD researchers. Given the relative rarity of such DS resources, it will open up new avenues for research.
Impact at the clinical and patient level:
DS is the most common cause of intellectual disability, as well as the most common genetic cause of Alzheimer's disease world-wide. This exceptionally high neuropathological burden means that AD is now the main cause of death in adults with DS. It is also costly on a personal and caregiver level and for the NHS. Impacts at the clinical level are expected to include data on MRI and plasma biomarkers of AD progression during the preclinical and prodromal stages that will inform diagnosis and disease monitoring, and help to provide more refined estimates of prognosis. A better understanding of the cerebrovascular alterations associated with amyloid deposition may lead to the identification of potential treatment and prevention strategies, not only for individuals with Down syndrome, but also for other patient groups at risk for AD. Impacts for patients include the availability of better information for carers and individuals with DS who are at risk of AD, particularly on the cerebrovascular complications of AD. Ultimately, the data generated by this proposed study will enable clinical trials of treatments to prevent or delay AD in DS individuals. The results of such trials will not only benefit DS individuals, but also other high-risk patient groups.
Organisations
- King's College London (Lead Research Organisation)
- Karolinska Institute (Collaboration)
- University of Gothenburg (Collaboration)
- Ludwig Maximilian University of Munich (LMU Munich) (Collaboration)
- Fondation Jérôme Lejeune (Collaboration)
- University of Barcelona (Collaboration)
- UNIVERSITY OF CAMBRIDGE (Collaboration)
- EU Health Programme (Collaboration)
Publications
![publication icon](/resources/img/placeholder-60x60.png)
Startin CM
(2019)
Cognitive markers of preclinical and prodromal Alzheimer's disease in Down syndrome.
in Alzheimer's & dementia : the journal of the Alzheimer's Association
![publication icon](/resources/img/placeholder-60x60.png)
Startin CM
(2019)
Plasma biomarkers for amyloid, tau, and cytokines in Down syndrome and sporadic Alzheimer's disease.
in Alzheimer's research & therapy
![publication icon](/resources/img/placeholder-60x60.png)
Hamburg S
(2019)
Assessing general cognitive and adaptive abilities in adults with Down syndrome: a systematic review.
in Journal of neurodevelopmental disorders
![publication icon](/resources/img/placeholder-60x60.png)
Babulal GM
(2019)
Perspectives on ethnic and racial disparities in Alzheimer's disease and related dementias: Update and areas of immediate need.
in Alzheimer's & dementia : the journal of the Alzheimer's Association
![publication icon](/resources/img/placeholder-60x60.png)
Alhajraf F
(2019)
Plasma amyloid and tau as dementia biomarkers in Down syndrome: Systematic review and meta-analyses.
in Developmental neurobiology
![publication icon](/resources/img/placeholder-60x60.png)
Hithersay R
(2019)
Association of Dementia With Mortality Among Adults With Down Syndrome Older Than 35 Years.
in JAMA neurology
![publication icon](/resources/img/placeholder-60x60.png)
D'Souza H
(2020)
Differential Associations of Apolipoprotein E e4 Genotype With Attentional Abilities Across the Life Span of Individuals With Down Syndrome.
in JAMA network open
![publication icon](/resources/img/placeholder-60x60.png)
Antonarakis SE
(2020)
Down syndrome.
in Nature reviews. Disease primers
![publication icon](/resources/img/placeholder-60x60.png)
![publication icon](/resources/img/placeholder-60x60.png)
Rafii MS
(2020)
The AT(N) framework for Alzheimer's disease in adults with Down syndrome.
in Alzheimer's & dementia (Amsterdam, Netherlands)
![publication icon](/resources/img/placeholder-60x60.png)
Snyder HM
(2020)
Further understanding the connection between Alzheimer's disease and Down syndrome.
in Alzheimer's & dementia : the journal of the Alzheimer's Association
![publication icon](/resources/img/placeholder-60x60.png)
Mengel D
(2020)
Dynamics of plasma biomarkers in Down syndrome: the relative levels of Aß42 decrease with age, whereas NT1 tau and NfL increase.
in Alzheimer's research & therapy
![publication icon](/resources/img/placeholder-60x60.png)
Startin CM
(2020)
Health comorbidities and cognitive abilities across the lifespan in Down syndrome.
in Journal of neurodevelopmental disorders
![publication icon](/resources/img/placeholder-60x60.png)
Cannavo C
(2020)
Using mouse models to understand Alzheimer's disease mechanisms in the context of trisomy of chromosome 21.
in Progress in brain research
![publication icon](/resources/img/placeholder-60x60.png)
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Emes D
(2021)
COVID-19 in Children with Down Syndrome: Data from the Trisomy 21 Research Society Survey.
in Journal of clinical medicine
![publication icon](/resources/img/placeholder-60x60.png)
Pape SE
(2021)
The Association between Physical Activity and CAMDEX-DS Changes Prior to the Onset of Alzheimer's Disease in Down Syndrome.
in Journal of clinical medicine
![publication icon](/resources/img/placeholder-60x60.png)
Aschenbrenner AJ
(2021)
Markers of early changes in cognition across cohorts of adults with Down syndrome at risk of Alzheimer's disease.
in Alzheimer's & dementia (Amsterdam, Netherlands)
![publication icon](/resources/img/placeholder-60x60.png)
Hamburg S
(2021)
Comparison of resting-state EEG between adults with Down syndrome and typically developing controls.
in Journal of neurodevelopmental disorders
![publication icon](/resources/img/placeholder-60x60.png)
Tosh JL
(2021)
Genetic dissection of down syndrome-associated alterations in APP/amyloid-ß biology using mouse models.
in Scientific reports
![publication icon](/resources/img/placeholder-60x60.png)
Hithersay R
(2021)
Optimal age and outcome measures for Alzheimer's disease prevention trials in people with Down syndrome.
in Alzheimer's & dementia : the journal of the Alzheimer's Association
![publication icon](/resources/img/placeholder-60x60.png)
Illouz T
(2021)
Specific Susceptibility to COVID-19 in Adults with Down Syndrome.
in Neuromolecular medicine
![publication icon](/resources/img/placeholder-60x60.png)
Real De Asua D
(2021)
Comparison of COVID-19 and Non-COVID-19 Pneumonia in Down Syndrome.
in Journal of clinical medicine
![publication icon](/resources/img/placeholder-60x60.png)
Illouz T
(2021)
Immune Dysregulation and the Increased Risk of Complications and Mortality Following Respiratory Tract Infections in Adults With Down Syndrome.
in Frontiers in immunology
![publication icon](/resources/img/placeholder-60x60.png)
Montoliu-Gaya L
(2021)
Blood Biomarkers for Alzheimer's Disease in Down Syndrome
in Journal of Clinical Medicine
![publication icon](/resources/img/placeholder-60x60.png)
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![publication icon](/resources/img/placeholder-60x60.png)
Saini F
(2021)
P.0748 The impact of Alzheimer disease on the brain's white matter development in individuals with Down syndrome: a systematic review
in European Neuropsychopharmacology
![publication icon](/resources/img/placeholder-60x60.png)
Ashton NJ
(2021)
A multicentre validation study of the diagnostic value of plasma neurofilament light.
in Nature communications
![publication icon](/resources/img/placeholder-60x60.png)
Rujeedawa T
(2021)
The Clinical and Neuropathological Features of Sporadic (Late-Onset) and Genetic Forms of Alzheimer's Disease.
in Journal of clinical medicine
![publication icon](/resources/img/placeholder-60x60.png)
Carmona-Iragui M
(2021)
Diagnostic and prognostic performance and longitudinal changes in plasma neurofilament light chain concentrations in adults with Down syndrome: a cohort study.
in The Lancet. Neurology
![publication icon](/resources/img/placeholder-60x60.png)
Strydom A
(2021)
The COVID-19 pandemic should be last orders for poor care of people with neurodevelopmental disorders.
in The British journal of psychiatry : the journal of mental science
![publication icon](/resources/img/placeholder-60x60.png)
Alic I
(2021)
Patient-specific Alzheimer-like pathology in trisomy 21 cerebral organoids reveals BACE2 as a gene dose-sensitive AD suppressor in human brain.
in Molecular psychiatry
![publication icon](/resources/img/placeholder-60x60.png)
![publication icon](/resources/img/placeholder-60x60.png)
Baumer NT
(2022)
Conducting clinical trials in persons with Down syndrome: summary from the NIH INCLUDE Down syndrome clinical trials readiness working group.
in Journal of neurodevelopmental disorders
![publication icon](/resources/img/placeholder-60x60.png)
Aslam AA
(2022)
Diabetes and Obesity in Down Syndrome Across the Lifespan: A Retrospective Cohort Study Using U.K. Electronic Health Records.
in Diabetes care
![publication icon](/resources/img/placeholder-60x60.png)
![publication icon](/resources/img/placeholder-60x60.png)
Baksh RA
(2022)
Susceptibility to COVID-19 Diagnosis in People with Down Syndrome Compared to the General Population: Matched-Cohort Study Using Primary Care Electronic Records in the UK.
in Journal of general internal medicine
![publication icon](/resources/img/placeholder-60x60.png)
![publication icon](/resources/img/placeholder-60x60.png)
Saini F
(2022)
Structural Connectivity in Down Syndrome and Alzheimer's Disease.
in Frontiers in neuroscience
![publication icon](/resources/img/placeholder-60x60.png)
![publication icon](/resources/img/placeholder-60x60.png)
Saini F
(2023)
The mismatch negativity as an index of cognitive abilities in adults with Down syndrome.
in Cerebral cortex (New York, N.Y. : 1991)
![publication icon](/resources/img/placeholder-60x60.png)
Baksh RA
(2023)
Compounded inequality: racial disparity and Down syndrome - Authors' reply.
in The Lancet. Public health
![publication icon](/resources/img/placeholder-60x60.png)
Veteleanu A
(2023)
Complement dysregulation and Alzheimer's disease in Down syndrome.
in Alzheimer's & dementia : the journal of the Alzheimer's Association
![publication icon](/resources/img/placeholder-60x60.png)
Idris M
(2023)
Common mental health disorders and cognitive decline in a longitudinal Down syndrome cohort.
in BJPsych open
![publication icon](/resources/img/placeholder-60x60.png)
Mgaieth F
(2023)
Exploring semantic verbal fluency patterns and their relationship to age and Alzheimer's disease in adults with Down syndrome.
in Alzheimer's & dementia : the journal of the Alzheimer's Association
![publication icon](/resources/img/placeholder-60x60.png)
Baksh R
(2023)
Multiple morbidity across the lifespan in people with Down syndrome or intellectual disabilities: a population-based cohort study using electronic health records
in The Lancet Public Health
Description | COVID-19 vaccination prioritisation for people with Down syndrome |
Geographic Reach | Multiple continents/international |
Policy Influence Type | Implementation circular/rapid advice/letter to e.g. Ministry of Health |
Impact | Based upon our recommendation, most people with Down syndrome now have access to COVID-19 vaccination and we have subsequently demonstrated that vaccination is safe, and also resulted in a significant decrease in mortality following infection |
URL | https://www.t21rs.org/covid_vaccination/ |
Description | Clinical and trial outcome measures for dementia in individuals with Down syndrome |
Amount | £180,000 (GBP) |
Organisation | LuMind Research Down Syndrome Foundation |
Sector | Charity/Non Profit |
Country | United States |
Start | 09/2018 |
End | 12/2020 |
Description | Horizon21: Clinical and trial outcome measures for dementia in individuals with Down syndrome |
Amount | £44,965 (GBP) |
Organisation | Jerome Foundation |
Sector | Charity/Non Profit |
Country | United States |
Start | 02/2019 |
End | 01/2021 |
Description | Multi-professional Clinical Training Partnership - Aarsland, D., Sleeman, K., Strydom, A. |
Amount | £225,000 (GBP) |
Organisation | Alzheimer's Society |
Sector | Charity/Non Profit |
Country | United Kingdom |
Start | 01/2019 |
End | 12/2021 |
Description | GO-DS21 |
Organisation | EU Health Programme |
Country | European Union (EU) |
Sector | Public |
PI Contribution | The work on HEROES led to the formation of a subsequent collaboration, including most of the HEROES partners with addition of new partners. This is called GO-DS21 and led to a successful application to teh EU's Horizon2020 programme. |
Collaborator Contribution | See above |
Impact | Multi-disciplinary collaboration; impacts to follow |
Start Year | 2020 |
Description | Horizon21 consortium: Down syndrome and Alzheimer's disease |
Organisation | Fondation Jérôme Lejeune |
Country | France |
Sector | Charity/Non Profit |
PI Contribution | Lead - established and coordinates the consortium |
Collaborator Contribution | Contributing to development of new cognitive and clinical assessment tools, and to validate these, as well as to establish a clinical trials network |
Impact | Ongoing |
Start Year | 2020 |
Description | Horizon21 consortium: Down syndrome and Alzheimer's disease |
Organisation | Karolinska Institute |
Department | Stockholm Brain Institute |
Country | Sweden |
Sector | Academic/University |
PI Contribution | Lead - established and coordinates the consortium |
Collaborator Contribution | Contributing to development of new cognitive and clinical assessment tools, and to validate these, as well as to establish a clinical trials network |
Impact | Ongoing |
Start Year | 2020 |
Description | Horizon21 consortium: Down syndrome and Alzheimer's disease |
Organisation | Ludwig Maximilian University of Munich (LMU Munich) |
Country | Germany |
Sector | Academic/University |
PI Contribution | Lead - established and coordinates the consortium |
Collaborator Contribution | Contributing to development of new cognitive and clinical assessment tools, and to validate these, as well as to establish a clinical trials network |
Impact | Ongoing |
Start Year | 2020 |
Description | Horizon21 consortium: Down syndrome and Alzheimer's disease |
Organisation | University of Barcelona |
Department | Faculty of Medicine |
Country | Spain |
Sector | Academic/University |
PI Contribution | Lead - established and coordinates the consortium |
Collaborator Contribution | Contributing to development of new cognitive and clinical assessment tools, and to validate these, as well as to establish a clinical trials network |
Impact | Ongoing |
Start Year | 2020 |
Description | Horizon21 consortium: Down syndrome and Alzheimer's disease |
Organisation | University of Cambridge |
Country | United Kingdom |
Sector | Academic/University |
PI Contribution | Lead - established and coordinates the consortium |
Collaborator Contribution | Contributing to development of new cognitive and clinical assessment tools, and to validate these, as well as to establish a clinical trials network |
Impact | Ongoing |
Start Year | 2020 |
Description | Horizon21 consortium: Down syndrome and Alzheimer's disease |
Organisation | University of Gothenburg |
Department | Sahlgrenska Academy |
Country | Sweden |
Sector | Academic/University |
PI Contribution | Lead - established and coordinates the consortium |
Collaborator Contribution | Contributing to development of new cognitive and clinical assessment tools, and to validate these, as well as to establish a clinical trials network |
Impact | Ongoing |
Start Year | 2020 |
Description | COVID and Down Syndrome Webinar |
Form Of Engagement Activity | Participation in an activity, workshop or similar |
Part Of Official Scheme? | No |
Geographic Reach | International |
Primary Audience | Patients, carers and/or patient groups |
Results and Impact | An update on the Trisomy 21 Research Society COVID and Down Syndrome Survey and discussed the DSMIG-USA Vaccination Position Statement. |
Year(s) Of Engagement Activity | 2021 |
URL | https://www.youtube.com/watch?v=9WKB90zua-o |
Description | COVID-19 is 10 times deadlier for people with Down syndrome, raising calls for early vaccination |
Form Of Engagement Activity | A magazine, newsletter or online publication |
Part Of Official Scheme? | No |
Geographic Reach | International |
Primary Audience | Public/other audiences |
Results and Impact | Impact of Covid-19 on down syndrome patients |
Year(s) Of Engagement Activity | 2020 |
URL | https://www.science.org/content/article/covid-19-10-times-deadlier-people-down-syndrome-raising-call... |
Description | Covid-19 and Down Syndrome on-line survey: results and perspective |
Form Of Engagement Activity | A talk or presentation |
Part Of Official Scheme? | No |
Geographic Reach | International |
Primary Audience | Public/other audiences |
Results and Impact | EDSA (European Down syndrome association) - Organized webinar with Dr. Andre Strydom and Prof. Mara Dierssen about Covid-19 and Down Syndrome. |
Year(s) Of Engagement Activity | 2020 |
URL | https://www.youtube.com/watch?v=97-UyBUbkaQ |
Description | Diabetes in Down syndrome |
Form Of Engagement Activity | A magazine, newsletter or online publication |
Part Of Official Scheme? | No |
Geographic Reach | International |
Primary Audience | Professional Practitioners |
Results and Impact | News item on our new data on Diabetes in Down syndrome |
Year(s) Of Engagement Activity | 2022 |
URL | https://www.healio.com/news/endocrinology/20221110/diabetes-incidence-higher-among-young-people-with... |
Description | Diabetes in Down syndrome press release |
Form Of Engagement Activity | A press release, press conference or response to a media enquiry/interview |
Part Of Official Scheme? | No |
Geographic Reach | International |
Primary Audience | Public/other audiences |
Results and Impact | News report related to new findings on Diabetes in Down syndrome |
Year(s) Of Engagement Activity | 2022 |
URL | https://www.kcl.ac.uk/news/children-and-young-adults-with-down-syndrome-four-times-more-likely-to-ha... |
Description | International study finds increased mortality in adults with Down syndrome |
Form Of Engagement Activity | A magazine, newsletter or online publication |
Part Of Official Scheme? | No |
Geographic Reach | International |
Primary Audience | Public/other audiences |
Results and Impact | Research led by King's College London in collaboration with the Centre for Genomic Regulation (CRG) and the Trisomy 21 Research Society (T21RS) finds increased COVID-19 mortality among adults with Down syndrome compared to the general population, emphasizing the need to prioritise vaccinations for those with the genetic disorder. https://thedaily.case.edu/international-study-finds-increased-covid-19-mortality-among-adults-with-down-syndrome/ https://news.emory.edu/stories/2021/02/coronavirus_inreased_mortality_down_syndrome/index.html |
Year(s) Of Engagement Activity | 2021 |
URL | https://eu.usatoday.com/story/news/2021/03/08/covid-19-vaccine-many-adults-down-syndrome-cant-get-sh... |
Description | Keynote at Trisomy 21 Research Society international conference |
Form Of Engagement Activity | A formal working group, expert panel or dialogue |
Part Of Official Scheme? | No |
Geographic Reach | International |
Primary Audience | Professional Practitioners |
Results and Impact | Keynote speaker at Trisomy 21 Research Society international conference |
Year(s) Of Engagement Activity | 2019 |
URL | https://www.t21rs.org/news-meetings |
Description | LDID SIG chair |
Form Of Engagement Activity | A formal working group, expert panel or dialogue |
Part Of Official Scheme? | No |
Geographic Reach | National |
Primary Audience | Professional Practitioners |
Results and Impact | I am the founding chair of the London Dementia in Intellectual Disabilities Special Interest Group, which has membership from clinicians across London. It is a forum for regular discussion and dissemination of research results related to the treatment and management of Dementia in individuals with Down Syndrome (DS) or other Intellectual Disabilities (ID). We have formed a new research collaboration to collect anonymised clinical data from dementia assessments on adults with DS and ID, which will be used to seek answers to clinically driven research questions. We have also developed generic care pathway guides which can be used by clinicians to improve services, and are in the process of organising a conference in 2012 that will be used as platform for a Intellectual Disabilities Dementia Care Alliance. |
Year(s) Of Engagement Activity | 2011,2012,2013,2014,2015,2016,2017,2018,2019,2020 |
URL | https://www.kcl.ac.uk/ioppn/depts/fans/research/dementia-in-intellectual-disabilities-special-intere... |
Description | Medical vulnerability of individuals with Down syndrome to severe COVID-19-data from the Trisomy 21 Research Society and the UK ISARIC4C survey |
Form Of Engagement Activity | Engagement focused website, blog or social media channel |
Part Of Official Scheme? | No |
Geographic Reach | International |
Primary Audience | Public/other audiences |
Results and Impact | Researcher chat via facebook organised by a family organisation to support uptake of covid vaccination for people with Down syndrome |
Year(s) Of Engagement Activity | 2021 |
Description | The COVID-19 pandemic should be last orders for poor care of people with neurodevelopmental disorders |
Form Of Engagement Activity | A magazine, newsletter or online publication |
Part Of Official Scheme? | No |
Geographic Reach | International |
Primary Audience | Professional Practitioners |
Results and Impact | Editorial - Explored whether the needs of individuals with neurodevelopmental disorders have been overlooked during the COVID-19 pandemic and set out the issues that need to be considered in response to future health crises and pandemics. |
Year(s) Of Engagement Activity | 2021 |
URL | https://www.cambridge.org/core/journals/the-british-journal-of-psychiatry/article/covid19-pandemic-s... |
Description | The Down Syndrome Medical Interest Group Annual Winter Meeting |
Form Of Engagement Activity | A talk or presentation |
Part Of Official Scheme? | No |
Geographic Reach | Regional |
Primary Audience | Professional Practitioners |
Results and Impact | The impact of COVID-19 on children & adults with Down Syndrome |
Year(s) Of Engagement Activity | 2020 |
Description | World Down Syndrome day |
Form Of Engagement Activity | Participation in an activity, workshop or similar |
Part Of Official Scheme? | No |
Geographic Reach | Local |
Primary Audience | Patients, carers and/or patient groups |
Results and Impact | Talking about research to people with Down syndrome and their carers |
Year(s) Of Engagement Activity | 2019,2020,2021 |
Description | World Down syndrome day public engagement |
Form Of Engagement Activity | Participation in an activity, workshop or similar |
Part Of Official Scheme? | No |
Geographic Reach | National |
Primary Audience | Study participants or study members |
Results and Impact | Public engagement event for people with Down syndrome and their caregivers |
Year(s) Of Engagement Activity | 2022 |