Home | Clinical Focus | What’s wrong with Jacques? Exploring frontotemporal dementia

What’s wrong with Jacques? Exploring frontotemporal dementia

Olivier Piguet knew something was wrong with his cousin Jacques. During a phone conversation, Olivier’s mother mentioned that Jacques, then a successful and well-liked optometrist in his local Swiss town, was acting peculiar. Suddenly rude to customers and falling out with his business partner, he was struggling to keep the business running. Olivier told his mother that this sounded like the early symptoms of frontotemporal dementia (FTD).

This would have been classed as an amazing feat of diagnostic assessment were it not for the fact that Olivier had spent his life studying the disease as a research fellow and professor of clinical neuropsychology.

Jacques was lucky that his cousin, thousands of miles away in Australia, was familiar with these symptoms, as FTD can often go misdiagnosed for years, especially in people under 65 – like Jacques, then aged 49. FTD can often be diagnosed as depression or other mental illness as the initial symptoms can be similar.

“When some someone starts developing these symptoms, you don’t think dementia because dementia is something that happens in old age,” Piguet says.

“If you start developing these symptoms in your 30s, 40s, it takes about five years to get to a diagnosis. When you’re in your 70s it takes about half as long to get a diagnosis of dementia. So, 18 months, two years.”

FTD is a form of dementia that is a result of damage to the frontal and/or lobal areas of the brain, the area that is important for controlling voluntary behaviour, emotions and complex thought.

Although FTD is a less common disease, approximately 15–20 per cent of all cases of dementia will have some FTD-related syndromes. It most commonly affects people in their 50s or 60s, compared with Alzheimer’s disease which manifests at a later age.

FTD can be divided into three sub-categories (although these sometimes overlap). There is the behavioural variant and two language presentations – semantic dementia and progressive non-fluent aphasia. Symptoms of the behavioural variant can be subtle and not always associated with dementia, hence the difficulty in diagnosis.

Patients will often become selfish, lose empathy or emotional warmth and responses. They can often lose their inhibitions and have difficulties in judgement, organisation or show impulsiveness.

The language variants present different challenges.

“Semantic dementia is associated with a progressive loss of what we call conceptual knowledge. So what you know about everything, the world. Obviously we’re a language species; we use language a fair bit. These people get aware much more quickly; they know they are starting to have difficulty understanding the meaning of words and they will tell you: ‘I’m hearing words but I don’t know what they mean anymore’,” says Piguet.

“Progressive non-fluent aphasia is much more obvious because you have this difficulty with expressive language. They understand fine, but they want to produce the output; that’s where there’s a major problem. So you have all this distorted garbled speech.”

People with FTD will often present with one of the three sub-types initially and then develop other symptoms over time.

The ways we treat FTD are different as well. Unlike other types of dementia, it does not respond to medication, says Piguet.

“In terms of disease modifying treatments like drugs, there’s really nothing in the dementia space. The only drugs that are available will essentially boost the efficiency of the nerve cells that are left in the brain. So like drinking 10 cups of coffee essentially – it makes you more buzzy and aware. It helps these nerve cells work as best as they can, but it doesn’t stop the disease process. So progressively these nerve cells will still die, and the medications will stop working,” he says.

“In frontotemporal dementia, we don’t even have that. All the drug trials that have been going on in the past few years have been negative. One reason is because of these multiple pathologies – a drug is likely to target on one of these protein accumulations, not all of them.”

However, like Alzheimer’s, there are ways in which people with FTD can train and exercise their brains to allay symptoms and slow decline. Attempting to alleviate behaviours is important for the carers and families of those with FTD.

“It can be and often is really hard to tackle a behaviour directly with someone who’s not aware of the impact of their behaviour.

“Some people will react aggressively towards their loved one because of something that’s happening in the environment. And then the question is: Can we identify what it is that triggers his response?

“What we try to do is teach carers to find ways of responding that will provide other types of benefits that will then minimise the occurrence of difficult behaviours,” Piguet says.

For language presentations, the process involves relearning the words people living with FTD have lost. Identifying the words that they have difficulties with, or words that relate to important topics and going through a repetitive learning process.

“But essentially four weeks, five days a week, and you’ll see an improvement. You know, these people can learn these words. And the good thing is that they will also start using these words in different contexts. It’s not specific to the training sessions. They apply these words in a broader context, which is showing that there’s a capacity then to use that in different situations again,” says Piguet.

All of these things are part of the work that Piguet and his colleagues at the University of Sydney do. Piguet is currently the co-director of FRONTIER, the frontotemporal dementia clinical research group at the university’s Brain and Mind Centre.

And FRONTIER has recently developed a new diagnostic tool that will help clinicians diagnose FTD and hopefully avoid any future misdiagnosis.

The SYDBAT app looks to standardise the language tests currently employed, which can be unreliable as they often use different words and databases.

“The difficulty for clinicians was that they would use different tests, but they wouldn’t be able to compare directly one test of language repetition with a test of naming. So the idea we had was to design a test where we would use a set of words across these different aspects of language skills, and we use the same words to test this. So we designed this test that has four components,” says Piguet.

There is a naming test, which involves naming what you see in pictures; a knowledge test, which tests comprehension of a word’s meanings; a visual differentiation test, and a semantic association test, which connects words through meanings.

“So then with that we have four different bits of information that are telling us something about the general capacity of language of these patients. And depending on how you fail on these different sub tests, it will tell you whether you’re more likely to have a semantic dementia because you’re going to fail on the naming task and the semantic association task, but you’ll do reasonably very good on repetition.”

After the test scores are run through an algorithm, the app provides a potential diagnosis for the clinician to work from.

Piguet says that although there is a greater societal consciousness around dementia, the understanding of the specifics and complexity of the disease, such as FTD, still has some way to go.

Hopefully in the future, with more education and the help of this app, people won’t have to rely on their cousin to diagnose a serious condition.

“Obviously it’s close to home and becomes more personal,” Piguet says of Jacques’ diagnosis. “The other thing is that frontotemporal dementia in general is not a genetic disease disorder, but having a close family member with the disease will increase your risk of developing it as well.

“If you start talking to people [around here], a lot of people will tell you: ‘I’m doing this because I have a grandmother who…’ But the unusual thing with me is that it happened the other way around.”

The SYDBAT app will be available soon, but a preview can be seen here.

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