How studying sleep in Down’s syndrome is uncovering clues about Alzheimer’s disease

We’re celebrating Join Dementia Research’s 10^th Anniversary.

Join Dementia Research is a service run by the NHS that allows people to register their interest in taking part in dementia research studies. Over the past decade, Join Dementia Research has supported an incredible 93,000 people to take part in over 900 dementia research studies.

Alzheimer’s Research UK are proud to be a charity partner of a service that supports people to take part in research studies, bringing us closer to a cure.

 

One interesting study is looking for volunteers to investigate sleep patterns in people with and without Down’s syndrome, and whether they can tell us more about how the brain is affected by Alzheimer’s disease.

How are Down’s syndrome and Alzheimer’s linked?

Sadly, people with Down’s syndrome are more likely to develop Alzheimer’s. They are also more likely to develop it at a younger age. Around half of people with Down’s syndrome develop memory and thinking problems in their 50s.

Down’s syndrome is caused by an extra copy of chromosome 21, which is present at birth.

A chromosome is a group of genes. Genes contain instructions for making proteins, which are the building blocks of our body’s organs. A toxic protein called amyloid builds up in the brains of people with Alzheimer’s, and is thought to trigger a chain of events that lead to damage and brain cell death.

The instructions that lead to amyloid production are stored within chromosome 21. As people with Down’s syndrome are born with an extra copy of chromosome 21, they have an extra copy of this gene. This means that more amyloid is likely to build up in their brains. In fact, almost everybody with Down’s syndrome has early Alzheimer’s-related changes in their brains by age 30.

Can getting a good night’s sleep delay dementia?

We already know that almost half of dementia cases worldwide could be prevented or delayed through lifestyle changes. But there isn’t as much robust research into whether these changes can delay symptoms in people with rare genetic forms of the condition, like in Down’s syndrome.

Because people with Down’s syndrome are at a much higher risk of Alzheimer’s, looking for ways to mitigate this added risk or delay symptoms is vital in the search to understand the diseases that cause dementia.

That’s why Alzheimer’s Research UK is funding a study is looking into how sleep quality affects the brain in people with Down’s syndrome, and whether these changes are linked to Alzheimer’s. At the moment, we know there’s a link between poor sleep quality over a long period of time and dementia, but we don’t know whether it’s a risk factor or an early symptom of the condition.

What is the study looking at?

By monitoring volunteers with and without Down’s syndrome, Dr Stephanie Brown and her team at the University of Cambridge are investigating whether the amount and quality of sleep can speed up or slow down Alzheimer’s-related changes in the brain. This will help to untangle the relationship between sleep and dementia and find out whether improving our sleep quality could reduce our risk of, or delay, dementia.

Dr Brown’s study is looking for people to take part through Join Dementia Research.

Join Dementia Research is not a research study itself but a place to find out about studies that are looking for people like you to enrol and take part. Anyone over the age of 18, with or without dementia, can sign up to find out which studies they can take part in. Signing up to the register is not a commitment to take part in any particular study, it just allows researchers to find willing volunteers.

One such volunteer is Alzheimer’s Research UK supporter Ed Pinches, a Join Dementia Research member since 2018. His own family have witnessed first-hand the harm and heartbreak of dementia after his nanna, Elise, was diagnosed with Alzheimer’s. The experience motivated Ed to find out about dementia research studies he could take part in. So “in a small yet concentrated way [he] could do something that may just help speed up the day we have a cure.”

 

 

Taking part in the study

Taking part in dementia research is easy and flexible. “I received an email from a researcher looking to recruit for the study, outlining what was involved”, says Ed, “The email was clear and easy to follow. They gave me a number of dates to choose from should I like to take part, and of course I wanted to!”

“On the day, I travelled into Cambridge and was met by nurses and the study lead at the hospital. I was taken through a form about my sleep and answered a number of questions, which didn’t take too long at all. Then I was led through to where my blood was taken by an excellent nurse.

 

 

“After a quick bite to eat, I travelled down the road to get a brain scan. I got into scrubs, and spent an hour in the machine, which whirred around as I lay perfectly still with ear plugs in as it took images of my brain.”

 

 

The results of these tests help researchers to build a picture of someone’s sleep pattern, and also look at whether they have any early signs of Alzheimer’s.

“The tests didn’t take too long, either. On the day, I arrived at 11 o’clock and the scan was done by three o’clock.”, explains Ed, “Although I had to wear the Fitbit for a week, I wear a smartwatch anyway, so it didn’t really affect my everyday life.”

Ed is part of the control group, people either without Down’s syndrome themselves or a sibling of someone with Down’s syndrome. The two groups (people with Down’s syndrome and people without Down’s syndrome) will be compared against each other to see whether changes in the brains and bodies of people with Down’s syndrome are specifically due to the extra chromosome, or other genetic or environmental factors.

Taking part in a study can give people a unique insight into dementia research. “It was really rewarding to take part in the study, and a new experience! I was able to have a lovely chat with the researcher, Dr Brown where she told me more about the research and it was interesting to hear”, Ed explains.

Importantly, taking part in research is not a way to get a diagnosis of dementia, so you won’t walk out of a study any differently to how you started. However, you will be helping researchers to find out more about how to diagnose, prevent or treat the diseases that cause dementia. And, as Ed exclaims, “The whole experience was really interesting! It’s not too often you get to visit such amazing facilities, without something not being medically right. What have you got to lose?”.

After the appointment

After the brain scan, Ed was given a Fitbit to wear at home for the next week to measure his sleep and vital functions. He used a small device called an oximeter which goes on the end of your finger to measure his blood oxygen levels.

 

 

After the study, a courier collected the Fitbit and oximeter from Ed’s house and returned them to the researchers.

The data collected from these devices will help researchers to put together a more accurate picture of someone’s health over the course of a week. Helping them to map someone’s actual sleep, blood pressure, heart rate and blood-oxygen levels. Ed and other volunteers are contributing to studies to find out why some people develop Alzheimer’s quicker than others, and what could be done to slow it down or prevent it.

 

If you want to take part in dementia research studies you can find out more and register to Join Dementia Research here, or by calling us on 0300 111 5 111 (9-5pm Monday to Friday). The registration process takes 10-15 minutes over the phone. Anyone over the age of 18, with or without dementia, can sign up.

“If you are reading this, then it’s really quick and easy to join. The experiences haven’t just been rewarding but enjoyable, too.”

Dr Brown’s study is now completing recruitment, with many generous participants hearing about the study through Join Dementia Research. There are over 100 other studies you may match to by registering to Join Dementia Research. Without people like Ed who take part in dementia research studies, we simply won’t make progress towards a cure.