Publications

The latest publications from our consortium can be found here on PubMed. Publications that may be of particular interest are briefly described below.

Plasma biomarkers for amyloid, tau, and cytokines in Down syndrome and sporadic Alzheimer's disease - March 2019

This study aims to find biomarkers (i.e. physical chracteristics that appear with the progression of a disease) that characterise dementia in Down syndrome. Identifying biomarkers is essential to identify the stage of a condition, to be able to tailor the cure appropriate to the phase. This paper focuses on blood biomarkers, hence on the changes in quantity of molecules present in the blood. They found some alteration in terms of increased Aβ, IL1β and NfL in adults with DS than in other groups. NfL concentration may be the most suitable biomarker for dementia progression in DS. The identification of such a biomarker is important to improve the detection of dementia and monitor its progression, and for designing clinical intervention studies.

To read the full article, click here.

Treating dementia in people with Down syndrome - February 2019

A new study from researchers at King’s College London’s Institute of Psychiatry, Psychology & Neuroscience (IoPPN) has confirmed that people with Down syndrome who develop dementia can benefit from drugs commonly used to treat the condition.

For a coverage from Kings Health Partners click here

For a coverage from Down Syndrome association click here

You can find the full article here

Understanding early Alzheimer-related cognitive changes in Down syndrome - February 2019

The paper describes early cognitive changes in the Down syndrome population. The study is extremely powerful, as it will offer insights on the appropriate situations and timings to start drug trials against Alzheimer dementia in the Down syndrome population. Read an easy version of the article here.

Association of Dementia with mortality in adults with Down syndrome - November 2018

This work quantifies the fatal burden of dementia associated with Alzheimer disease in individuals with Down syndrome (DS). It consisted of a prospective longitudinal study in a community setting in England. Dementia was associated with mortality in 70% of older adults with DS. APOE ε4 carriers and/or people with multiple comorbid health conditions were at increased risk of dementia and death, highlighting the need for good health care. For those who died without a dementia diagnosis, late-onset epilepsy was the only significant factor associated with death, raising questions about potentially undiagnosed dementia cases in this group.

Our results identify tests of memory and sustained attention may be particularly useful measures to track decline in the preclinical stages of AD in DS whereas informant‐measures may be useful in later stages. These results have implications for the selection of outcome measures of treatment trials to delay or prevent cognitive decline due to AD in DS. As clinical diagnoses are generally made late into AD progression, early assessment is essential.

Neurofilament light as a blood biomarker for neurodegeneration in Down syndrome - April 2018

Down syndrome (DS) may be considered a genetic form of Alzheimer’s disease (AD) due to universal development of AD neuropathology, but diagnosis and treatment trials are hampered by a lack of reliable blood biomarkers. This study established neurofilament light (NF-L), associated with axonal damage in neurodegenerative conditions, as a biomarker for neurodegeneration in DS with potential for use in future clinical trials to prevent or delay dementia.

Information about our first visit to adults with Down syndrome

This paper describes the tests we did on our first visit to our adult participants. It also reports the results of these tests.

Information about our new questionnaire (the CS-DS)

This paper describes a new questionnaire we developed to help us find out about everyday cognitive abilities in adults with Down syndrome. It is an informant questionnaire, which means it is to be completed by someone who knows the person with Down syndrome very well. We called the questionnaire the Cognitive Scale for Down syndrome (CS-DS). It is free for other researchers to download and use.

Making stem cells from people with Down syndrome

This paper is about making stem cells from a person with a rare form of Down syndrome. Examining the stem cells grown from this person can tell us more about Down syndrome, and also help us to find out more about development, ageing and dementia.

BACE2 gene

This paper describes how a gene on chromosome 21, called BACE2, may influence age of dementia onset in people with Down syndrome.

Using the Arizona Cognitive Test Battery to detect dementia

The aim of this paper was to see whether a battery of cognitive tests that is commonly used in people with Down syndrome (called the Arizona Cognitive Test Battery) could be used to detect dementia in older adults with Down syndrome.

Age of dementia onset in people with Down syndrome

This paper describes a study which used a large database of people with Down syndrome to identify factors associated with age of dementia diagnosis, and how long people lived after they were diagnosed with dementia. The average age that people with Down syndrome were diagnosed with dementia was 56 years. People in this study lived longer after they had been diagnosed with dementia if they were younger, and also if they were taking dementia medication.

APP gene in the J20 mouse model of Alzheimer's disease

This paper investigated a mouse model of Alzheimer's disease called J20. It aimed to determine the location of a specific a gene in this model (the APP gene) that has been linked to Alzheimer's disease. The findings of this study are useful to many researchers who use this mouse model to investigate Alzheimer's disease.