Norman Swan: This next story has similarities to the previous one with Liz Scott. A form of dementia called frontotemporal dementia, you may have heard about it in relation to Bruce Willis, the actor who was diagnosed with frontotemporal dementia about a year after being diagnosed with the inability to speak, aphasia, and so he has got it very severely. You know, communication challenges are just one of Bruce Willis's challenges with frontotemporal dementia, but even he who could hire the best medical minds in the United States took a year to be diagnosed.
Now the issue which is being uncovered by Australian research is that the criteria used to diagnose frontotemporal dementia misses one important element; memory loss. So in the past, if you've got memory loss you could not be diagnosed with frontotemporal dementia. And this group in the University of Sydney believe that is wrong, and they're not the only ones in the world who believe that is wrong, and, as a result, people have been misdiagnosed. Here's an example of one personal story of this from Julane Bowen, who's a dementia law advocate whose husband Jeff has frontotemporal dementia, and what Julane found was differences in Jeff's behaviour as he approached retirement.
Julane Bowen: But when he retired, things really escalated. He'd gone from being very active, very social, involved with some volunteer things, going out on our boat, to sitting in a chair and never getting up in just the space of two months. So I was telling the doctor I was getting concerned, and he was kind of monitoring things, but not really doing anything. Then at the not quite two-year mark he was getting kind of like psychotic. He had stopped sleeping. He was getting increasingly paranoid if I would leave the house, and that all escalated one day to where he wouldn't let me leave the house. They told me he had depression, he had bipolar, he had developed late onset schizophrenia. When they finally decided to do some brain scans that confirmed FTD, his atrophy on the frontal lobe was dramatic. And his GP rang me early one morning to say that he was sorry, he had just written it off to me not coping with the fact that my husband had retired.
Norman Swan: So a really troubling story there from Julane about delay in diagnosis, and that's what Olivier Piguet has been trying to speed up, in a sense, and make much more accurate so people can get the help they need. Olivier Piguet is Professor of Clinical Neuropsychology at the University of Sydney.
Olivier Piguet: So frontotemporal dementia is rarer than Alzheimer's disease. These people will have changes in behaviour and personality in many instances, and other people will start experiencing some difficulties with language, either failing to understand the meaning of words or sentences, or difficulty expressing themselves.
Norman Swan: And does it come on earlier in life than Alzheimer's?
Olivier Piguet: It does generally. There is a peak of disease onset in the late 50s or early 60s. In these frontotemporal dementia syndromes what we see is that we have people who are still in the workforce, potentially with kids growing up. So there are some financial implications, relationship implications that you tend not to see in the older segment of the population.
Norman Swan: So give me the typical picture before you added in this extra element of memory loss.
Olivier Piguet: What you would see is there's generally a partner who raises concern with a GP saying, 'Well, I think my husband is behaving a bit oddly. He's not as warm and empathetic as he used to be. He doesn't relate to other people, doesn't like being around, has difficulty engaging in activities.' And often at the beginning the label is more around…maybe it's a psychiatric disorder; is there depression or late onset psychosis or bipolar disorder? And often people presenting with these symptoms get the runaround and get to see a number of GPs and often refer to psychiatrists and get on some medications that don't seem to make much of a difference. And then finally they might end up with a geriatrician or neurologist who puts two and two together. In general, it takes about four years to get an accurate diagnosis for frontotemporal dementia, which is a long time, as opposed to Alzheimer's disease which usually takes about 18 months, two years. So we're talking a doubling of time that it takes to get an accurate diagnosis of frontotemporal dementia.
Norman Swan: Now, the thing that I found gobsmacking was that memory loss excludes you from the diagnosis, and yet it's a dementia.
Olivier Piguet: Yes, it is, but that's exactly the point; people tend to equate memory loss with dementia, which is not always the case, and using memory loss as an exclusion criterion, the basis for that was to exclude people who would have potentially Alzheimer's disease. But the research, not just from our group, but other researchers around the world, realised that memory problems is actually present in frontotemporal dementia as well. So what happened is that we would get referrals from various practitioners saying 'there are changes in behaviour and personality, but there's also memory problems, so I don't think it is frontotemporal dementia'.
Norman Swan: So you've reviewed this, looked at the evidence, and said memory loss should be part of this, you shouldn't be excluded from the diagnosis of frontotemporal dementia if you've got memory loss. What are the practical implications of that? I mean, there isn't a drug for frontotemporal dementia, is there?
Olivier Piguet: No, there isn't. There are two things. One is to be more flexible in the diagnostic approach, which then allows us to inform, educate families, help them to address these behavioural symptoms and behavioural changes. But you're right in that there's no drug at the moment for frontotemporal dementia, but there are clinical trials currently underway that are looking at a very specific subset of people with frontotemporal dementia who have genetic mutations.
Norman Swan: Now, what families and indeed people with frontotemporal dementia or the right diagnosis want to know is where do I go from here? How long have I got? Am I going to end up in a nursing home? What's the track of people with frontotemporal dementia?
Olivier Piguet: It's extremely tricky to determine on a case-by-case basis and that's exactly the questions that we get all the time. And I'm always put in a very difficult position because I can talk to them about population studies, so I can tell them that on average we know that from a diagnosis of frontotemporal dementia, life expectation is about five to seven years. But in our clinic we see people who will die within two years, and others will still be around 10, 12 years later. And this is another thing that we try to identify in this study, is are there features or a cluster of features that will tell us something about how quickly you will go downhill or not? And we couldn't find anything. The only important variable that comes into play is sex. Female participants tended to have a slightly shorter disease duration compared to males.
Norman Swan: Olivier Piguet, Professor of Clinical Neuropsychology at the University of Sydney. Here's Julane Bowen again on what having an accurate diagnosis has meant for her and her husband, Jeff.
Julane Bowen: We had the psychiatrist then who knew that he had a terminal illness, but for Jeff, even though he spent four more months in hospital, that doctor said, 'We'll get him stable and get him home, if that's what you want.' Prior to that, I got all kinds of answers, and every answer was then followed with, 'You will have to find him a placement at a residential facility. You can't take him home.' So getting the diagnosis met we were able to start putting in place a program, and he's still home, and that was eight years ago last month.
Norman Swan: So these things are not for pointy heads, they're really important. And if you want to read more about this, Olivia Willis, who's sometimes heard on the Health Report, has written a piece on frontotemporal dementia and its diagnosis on ABC Health online, so go there, and we'll have a link to that as well in our show notes.
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