Webinar: Down Syndrome and Dementia
Dementia Australia webinars are free videos where subject experts discuss topics relating to dementia for a general audience.
In this webinar, psychiatrist and psychogeriatrician Dr Sushmita Hunter discusses how Alzheimer’s disease may present differently for people with Down syndrome. She explores the process and challenges of diagnosis and strategies to recognise and manage dementia, including important considerations and questions to ask.
You will learn about:
- the link between Down syndrome and Alzheimer’s dementia
- signs and symptoms of dementia in people living with Down syndrome
- the importance of diagnosis and what needs to be considered during this process.
Transcript
[Beginning of recorded material]
[Title card: Dementia Australia]
[Title card: Down Syndrome and Dementia]
Dr Hunter: I'd like to begin by acknowledging the traditional owners on the land on which we meet today. I would like to pay my respects to elders, past and present, and to our shared futures. Today, I'm going to discuss Down Syndrome and Alzheimer's Dementia. My name's Dr Sushmita Hunter, and I'm a psychogeriatrician. So, I'm a psychiatrist. I've done a further degree in old age psychiatry, and I treat a number of patients in the Frenchs Forest area with Down Syndrome with Alzheimer's Dementia. I've been doing this for about 30 years.
This is a summary of my talk today. So, why do people with Down Syndrome experience more Alzheimer's Dementia than those without Down Syndrome? What is Alzheimer's Dementia? How is Alzheimer's Dementia diagnosed in people with Down Syndrome? How do you manage Alzheimer's Dementia? And finally, what is the prognosis of Dementia in Down Syndrome? So, this is the link. This is answering the question to "why do people with Down Syndrome experience more Alzheimer's Dementia?" As you know, people with Down Syndrome are born with an extra copy of Chromosome 21, and that carries a gene, which is really important, in the beginning of Alzheimer's Dementia. It's called amyloid precursor protein, APP.
Now, too much of this protein APP, leads up to a build-up of clumps called beta-amyloid plaques in the brain, and we call that a hallmark or biomarker of Alzheimer's disease. By the age of 40, many people with Down Syndrome will have these plaques on the brain, along with another protein that we call tau protein, which also deposits in the brain and forms these tangles, which we call neurofibrillary tangles. So, the thought is that at least 50% of people with Down Syndrome do develop Alzheimer's Dementia somewhere in their forties, fifties, and sixties, and that is more than people without Down Syndrome Dementia.
Most people who have Alzheimer's Dementia have these beta amyloid plaques, and they show up on a scan called a PET amyloid scan. And the plaques often show up in an area that we call the hippocampus of the brain, the area for new registration and new recall. So, the hippocampus is where this information that's new is processed, so that's why people can't remember what they've just done or what they did yesterday, but they have good memories from their childhood or from even a few years ago.
These plaques then spread to cortical areas, and they’re areas that, such as me talking to you, which is an expressive language area in the left side of the front of my brain, called Broca's. Other areas of the comprehension areas of language, or the areas that are parietal in the way you put your clothes on the right way, also the area that you walk, or you do numbers, or you read, they're cortical areas. So, the plaques will, over time, go from the hippocampus onto these other areas, and that's how Alzheimer's Dementia progresses. There are four stages. There's the mild stage, the moderate stage, the severe stage, and the terminal stage of Alzheimer's Dementia.
So what are the types of dementia? As you know, dementia is the umbrella term that we use, like the word for instance, the word pneumonia. And there's many types of pneumonia. There's bacterial pneumonia, there's viral pneumonia, there's chemical pneumonia. So, dementia is that overall word, and then there are different types. Alzheimer's is a type of dementia, and as I've already explained, what you see is these beta-amyloid plaques and these tau tangles.
So, it's really common to have Alzheimer's Dementia in anybody. 43% of us, when we reach 85 or more, will develop Alzheimer's Dementia. Now, that's a lot. The other types of Dementia you've probably heard about are Vascular Dementia, Lewy Body Dementia, and Parkinson's Dementia. These are just some of the types. There's many, many types. But today, we're talking about the Alzheimer's type, which is more common in people with Down Syndrome.
The progression of dementia in someone with Down Syndrome can't easily be followed, or even picked often, or diagnosed. So, what we often see in someone who has Down Syndrome is a change, a change in behaviour, or a change in their personality, the personality they had at baseline. And in psychiatry, we call that pre-morbid personality, what was before. It is very hard to diagnose Dementia in people with Down Syndrome, and this is the big challenge and why so few specialists can do it.
Now, I've talked about a PET scan. There are two types – there's a PET scan and a PET amyloid scan. And for both, you've got to hold your head very, very still for at least 20 to 30 minutes. And that can be hard for some people to hold their head still. And particularly with some people who have Down Syndrome, it's just something they don't feel comfortable doing. So, often we can't do a PET scan, and we make the diagnosis without that scan, and then it's made as a clinical diagnosis. And that's done by the way, the person with Down Syndrome presents, and the history that we get from either the family members, or the important people in their lives such as carers. And that may be how we make the diagnosis without the scan.
What are the signs and symptoms in someone with Down Syndrome? He's getting a bit older and the carers or family might think, “Hang on a minute, they've changed a bit. Have they got Alzheimer's Dementia?” Well, these are the features we look for. Is there a change from baseline? I've mentioned that already, such as an example would be making a cup of tea, putting washing in the washing machine, catching public transport, or how productive they are at work.
One example was a lady I saw who was really good about putting her dirty washing in every week. So, she had a basket, and then on a Friday, she put the washing in, and all of a sudden, she started putting the washing in every day, and that just didn't make any sense. So, she was putting in clean clothes as well, and that was one of the symptoms, the first symptoms that she had started to get Alzheimer's Dementia.
The other thing we look for is has there been a change in behaviour? Such as, someone who's never been very angry, suddenly becomes angry or frustrated or irritable, and someone has been really very gentle can suddenly become quite aggressive, physically or verbally. Has there been a change of mood? So, someone, suddenly, with Down Syndrome who's always been really upbeat and happy, is very sad and looks really miserable, or is there suddenly psychosis, which is hallucinations – seeing things, hearing things, feeling things, smelling things that nobody else can experience.
And delusions, delusions are false, fixed beliefs such as "There's an alien spacecraft in my bedroom, there really is." And of course, you go and look, and there isn’t, and the person's saying, "No, there is." And they're not actually seeing it. They actually believe that an alien spacecraft might be there. So, it's not a hallucination. Or they might think one of the carers is not their carer, but an imposter that's come in, so there's some examples of delusions.
One of the other things we look for is a change of gait. So, someone with Down Syndrome that's had a beautiful walking style suddenly starts shuffling, or is very stooped forward, or doesn't swing their arms. And also, coordination like doing buttons up, shoelaces, putting your shirt around the right way. Those are the things that we look for.
So, we are looking for is the person less verbal and has language changed? We also look at sleep, and I'll often ask carers or family members about sleep – is the person with Down Syndrome suddenly sleeping a lot during the day and they never did that? And are they getting up at night? And suddenly, in the middle of the night when it's dark, getting ready to go for work? So, these are some of the things. Is there forgetfulness of people that they're very familiar with, like their family or their carers, and they just can't remember who they are? Is there a loss of interest in activities that they would've loved, like bowling or going to the hairdresser, or going to art, and suddenly, they're quite apathetic and not very motivated?
Are they restless, and they're wandering, and they can't sit still, and they keep going outside? And as I've mentioned, a big thing is is there disorientation to time? Mixing up night and day.
These are the things we look at when someone's being considered for a diagnosis of Alzheimer's Dementia when they have Down Syndrome. First of all, we want to know that there's a physical examination has been done, either by the GP or myself, and we've checked that there's nothing else going on in the body, such as heart failure, or severe pneumonia, or is there's a severe infection that's making the person look very confused?
We like to have some blood tests, if possible, because sometimes things that are wrong in the blood can present as Dementia, and it's not Dementia. So, someone can look really confused when their thyroid is playing up. We want to rule out infections like I've mentioned, like a urine infection. And sometimes, we want to see if we can get a CAT scan of the head, just to make sure there are no strokes, or tumours, or fluid on the brain. If the person with Down Syndrome can sit still or lie still for a CAT scan.
If a PET scan can be done, that can be really helpful. A PET scan's a lot better than a CAT scan or an MRI, but the main thing we're looking for is corroborative information, the information from carers or family. So, when I see someone with Down Syndrome and a carer comes in with them and says, "I don't really know this person. I don't know, Susie, I've only been in the house for two days, but I've been asked to bring her along to you today," that's not very helpful to me. It's really helpful for someone, even if I can get them on the phone, who really knows Susie really well and can tell me about the changes that they've noticed, I'm looking at what has changed.
So, if it's not Alzheimer's Dementia, what are the other things? Well, I've just said a thyroid problem can look like dementia, or a urinary tract infection can look like dementia. The other thing is severe depression can look like dementia, and we call that pseudodementia. It could be an adjustment disorder, think of all the people with down Syndrome that have to move from one house to another, and just the environment changing as they've gotten a little bit older and they're really used to the old house, that can suddenly make them look like they're confused.
And it might be just that they're not problem solving, and they're not adjusting as easily, or their mother might have died, or their brother might have died, and they're grieving, and that can actually look like confusion. People with Down Syndrome often have a lot of really amazing issues that they never bring up, about things like their body image that they feel they're too thin, or they're too fat, or they're not muscly enough, or they have worries around their sexuality, or about the stigma of having Down Syndrome. So, these are the things that we've got to realise might be going on psychologically in someone with Down Syndrome who's adjusting, or grieving, or feeling worried, and that's presenting like dementia when it isn't.
Again, in diagnosis, we're making sure that if someone's suddenly not comprehending what we're saying, who has Down Syndrome, let's make sure first of all that they're hearing us properly, and it's not a hearing problem. And we're looking at those change of habits. We're also looking at behaviour – so, are they more frustrated? Have they got less impulse control? Is this new? Has there been a change in appetite, or craving for different foods? Has there been this new hoarding behaviour, or less sorting properly of things? Is there less planning and goal setting in someone really high functioning with Down Syndrome who would've said, "here's my list for the week and these are the things I want to do." And suddenly, they're not doing that anymore, and they're apathetic, and they're just waiting for the family or the carer to work out what they have to do this week.
So, how do we manage Dementia in Down Syndrome if we've diagnosed it? Well, the main thing is to give the diagnosis and the education to family and carers, and really having people understand what's going on in the brain. And I've mentioned the plaques, and how they start in the hippocampus, which is the area for new memory, and new recall, and new registration, and how they move to the other centres like reading, writing, understanding language, talking, walking, bladder, and bowel function. So, if you can understand that these plaques have started in the brain, and that they're moving and progressing, then you can understand what this person's going through and why they're changing. And the main thing is just understanding that these behaviour issues are from anxiety, and fear, because the brain's changing, and the person with Down Syndrome might be misinterpreting things like shadows and seeing people there, and this is actually due to Dementia.
And we've also got to remember that people with Down Syndrome just might not have the high cognitive ability of someone without Down Syndrome, and when they start to have Dementia, it becomes very hard, and very frightening for them, and therefore, that's really why we're needing to look at the behaviour changes.
These are the strategies to manage Dementia in Down Syndrome. There are medications that slow down the progress of Alzheimer's Dementia, and they can sometimes help with the behaviour changes. They don't always work, and they don't always improve things, but they can really slow down the progression of Dementia. Mainly, we're looking at environmental changes. So, things like needing more help, maybe help getting dressed and showered, and getting ready for work, where that person with Down Syndrome has never needed that before, and really modifying work hours and tasks. So, someone that's worked full-time might need to only work three days for shorter hours. So, there are the things that we are looking at in the environment.
What is the prognosis of someone who has Dementia, Alzheimer's type, with Down Syndrome? Well, in my experience, it does seem to evolve or progress more rapidly than in patients without Down Syndrome. I think that is something that carers and families need time to understand. In terminal stage, there are some very good palliative care pathways, which look at a lot of dignity and autonomy, and these are areas that are often not discussed, and they should be discussed with families, and carers, and guardians. And the guardian has a really important role of management and advocating in that terminal stage.
From this talk, I've got three questions for you to consider. The first question is when do you consider a person with Down Syndrome is possibly developing Dementia of the Alzheimer's type? What are the strategies of management for a person with Down Syndrome who is experiencing Dementia? And how would a person with Down Syndrome differ in their presentation with Dementia than a person without Down Syndrome? These are some references that are worth looking up if you've got time, and are quite interesting and easy to follow. So, I'm hoping that you've enjoyed this talk today, and you've learnt something about Alzheimer's Dementia in Down Syndrome. Thank you very much. Goodbye.
[Title card: Together we can reshape the impact of dementia]
[Title card: Dementia Australia. 1800 100 500. Dementia.org.au]
[END of recorded material]
More for you
- National Institute of Aging (USA): Alzheimer's disease in people with Down syndrome
- National Down Syndrome Society (USA): Aging and Down Syndrome: A Health & Well-Being Guidebook
- National Down Syndrome Society (USA): Alzheimer’s Disease and Down Syndrome: A Practical Guide for Caregivers
- Down Syndrome Australia: Down Syndrome and Dementia: A Guide for Families
The National Dementia Helpline
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