Revising a diagnosis of functional neurological disorder—a case report, 2020, Berry and Weithoff

Andy

Senior Member (Voting rights)
ABSTRACT

We report a case of a 62-year-old female diagnosed with functional neurological disorder (FND), where the diagnosis was eventually revised to progressive supranuclear palsy 3 years after symptom onset. FND is a commonly encountered condition and can be diagnosed with a considerable degree of confidence in most cases. FND is associated with significant functional impairment and may occur alongside other neurological disorders, and there is now a growing evidence base for symptom-specific FND treatments. Charting clinical progression of symptoms and serial neuroimaging were useful in refining the diagnosis in this case. Alhough the diagnosis was ultimately revised to a neurodegenerative disorder, a degree of functional overlay likely remained present. The case highlights the importance of recognizing and avoiding diagnostic overshadowing in those with FND.

Open access, https://academic.oup.com/omcr/article/2020/9/omaa073/5909755
 
"Alhough the diagnosis was ultimately revised to a neurodegenerative disorder, a degree of functional overlay likely remained present.

Er no, not really.

Maybe the patient was a bit upset and less than impressed by the medical and diagnostic service they had been through. Blame the patient for some "overlay" whatever that might be.

Perhaps some humility regarding the difficulties with diagnosing neuro degenerative diseases would be in order

Not much evidence of that though:
"FND is a commonly encountered condition and can be diagnosed with a considerable degree of confidence in most cases.

Nope it's looking more likely this is yet more evidence for the uselessness / pointlessness of the FND diagnosis / label. For patients anyway. It seems to be psychologically needed by some neurologists.
 
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Er no, not really.

I have a good friend whose mother was in the terrifying situation of being misdiagnosed when she really had PSP.
PSP is terrifying enough in itself in that it alters thoughts in such a way that the sufferer is likely to have great trouble establishing insight into their own state anyway.

Her daughter realised that something was wrong and gave up a highly successful career in the arts to look after her mother. After her mother died of PSP the daughter retrained to be a doctor.
 
The misdiagnosis in this case was picked up because a neurodegenerative disease becomes hard to miss. It is not so much that misdiagnoses are rare, more that other established diseases can be ignored for years and complex chronic illnesses like ME can be ignored forever.
 
It is impressive that advocates of somaticisation can attempt to spin evidence contradicting their belief system as supporting those beliefs.

The abstract does not say how much of the three years from first symptoms to the correct diagnosis was lost to misdiagnosis, but surely the first take away from this case study should be to ask what is the likely incidence of such misdiagnoses and how active harm resulting from such misdiagnoses can be avoided. This is especially relevant given many advocates for the proliferation of diagnoses such as FND also are actively trying to block medical assessment of these conditions, because they have the unproved belief that actual assessment is harmful in that it reinforces presumed patient false beliefs.
 
I have a good friend whose mother was in the terrifying situation of being misdiagnosed when she really had PSP.
PSP is terrifying enough in itself in that it alters thoughts in such a way that the sufferer is likely to have great trouble establishing insight into their own state anyway.

Her daughter realised that something was wrong and gave up a highly successful career in the arts to look after her mother. After her mother died of PSP the daughter retrained to be a doctor.

Quite
 
this paper said:
FND diagnoses demonstrate high diagnostic stability, with a misdiagnosis rate of 4% according to one systematic review
Google said:
Progressive supranuclear palsy (PSP) is an uncommon brain disorder that affects movement, control of walking (gait) and balance, speech, swallowing, vision, mood and behavior, and thinking.
As a result of these complications, the average life expectancy for someone with PSP is around 6 or 7 years from when their symptoms start.
Alhough the diagnosis was ultimately revised to a neurodegenerative disorder, a degree of functional overlay likely remained present.


That high diagnostic stability isn't something to crow about when even progressive supranuclear palsy doesn't change a functional neurological disorder label. I mean, at what point in the next few years is this poor woman allowed to actually be 100% ill, rather than having symptoms that she could not have if only she tried a bit harder and thought about other things?

It's horrendous that this woman and her family have not only had to deal with difficult symptoms in the fairly short time she had left to live after disease onset, but have also had to deal with medical professionals diminishing the reality and seriousness of them. The authors need to take a long hard look at themselves.

She was married and unemployed.
Actually, she was not able to work, not unemployed, presenting with 'difficulty keeping her eyes open, and falls'.

This is what the ongoing functional overlay diagnosis is based on: (SALT = speech and language therapy) (bear in mind the cognitive impairment of PSP that could easily affect performance in the more demanding situation of a test)
It was notable that SALT continued to identify features suggestive of an additional functional component to her phonation difficulties, where speech appeared to reliably worsen during times of testing and improved with distraction. Breath-holding during speech was particularly prominent, though she was noted to be able to demonstrate an ability for free breath-flow during non-speech tasks.
Whilst we cannot exclude confirmation bias from the SALT assessments, it is notable that multiple SALT therapists remarked on the presence of persisting functional-overlay, even after the diagnosis was revised to PSP.

This paper really annoyed me. I think it's a good one to have up one's sleeve whenever faced with that statement of the high diagnostic stability of FND diagnoses.
 
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That makes me embarrassed to be an SLT.... 1/ doing worse during testing isn’t a sign of a functional overlay, just doing worse when stressed, or when concentrating on something, and what makes the SLT think that they can diagnose a functional overlay???
Seems like the SLT didn’t know much about PSP to me. :banghead:
 
Ahh, don't be too hard on your profession, @Daisybell, @Peter Trewhitt. Bullshit knows no disciplinary bounds. I'm from Psychology, and look at how many of my colleagues are up to their necks in it.

Psychology, psychiatry, physiotherapy, speech-language pathology, social work, general medical practice, neurology, etc. No discipline can claim immunity. I think the BPS narrative has a powerful pull on people who want to help, who believe in their profession and who don't like to feel impotent. It promises a way out of that predicament.
 
I'm actually SO ANGRY about this case report. How did it ever get published? How can you possibly argue that someone with PSP, a degenerative disorder with significant neuropsychiatric features, has "functional overlay"? What would this even look like? Why can't these people fully admit that they made a horrible mistake and warn others accordingly? Why can they not see that this type of misdiagnosis can cause terrible iatrogenic harm? If its not bad enough that you're slowly losing your mind, you've got people telling you that you can't get better because you're "resistant" to the diagnosis. You can't confront your psychological issues.

Why can these people not see that FND is NOT a proper diagnosis. Its a way to explain away unexplainable sets of features! Wave the magic "it must be psychological" wand and all the clinician's problems are solved? ("Ah, but then those patients are just so resistant to the truth, aren't they? But hell, that's not our problem!"). Psychology is not your wastebasket, folks, where you can dump all your problems, somewhere you can go without needing to make a proper argument to justify.

PSP is horrible. It presents in so many different ways. Sometimes presents as severe apathy, hence the withdrawal from social activities, which this lady had (so no, its NOT a sign of "functional overlay"). Other times it looks a bit "frontal" (disinhibited), and affect can seem flat and sort of "off". Easy to misinterpret that as some sort of emotional problem (which it is, just not the kind they're thinking). Speech can be sparse and nonfluent, sometimes "adynamic" (they respond but don't initiate new topics), so can give the impression of depression. Enough in there to satisfy any true FND believer, case closed.

Looking at the case, I'm guessing the person was from a low socioeconomic background, and this group seem to be particularly at risk of being lumped with an FND diagnosis. Maybe they don't have the confidence or resources to fight back. Or maybe they just don't act the way our white middle class clinician expects a sick person to act.

I notice the authors' institutional affiliations:

Institute of Neurology, University College London
Division of Psychiatry, University College London

Steeped in the stuff.
 
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Charting clinical progression of symptoms and serial neuroimaging were useful in refining the diagnosis in this case. Alhough the diagnosis was ultimately revised to a neurodegenerative disorder, a degree of functional overlay likely remained present. The case highlights the importance of recognizing and avoiding diagnostic overshadowing in those with FND
Sorry, just can't let this go. "Refining" they say. "Refining"! What a bald faced lie.
 
When I came across this publication, I was somewhat worried that my assessment of it, "we gave the wrong diagnosis, then found the right diagnosis, but we were right all along anyway for (dubious) reasons" was somehow missing the point. Given the responses from others, I'm feeling more confident that I got it right in the first place, as well as angry that this sort of thing goes on.
 
This shows to me how entrenched the ‘functional’ view is in ORL for people with voice disorders. SLTs who only see voice disorders dont know what to make of the neurological signs and so they ‘diagnose’ according to their expectations rather than what is actually being presented.
When I was working as an SLT, I saw a wide variety of neurological conditions as well as seeing voice patients. I sometimes picked up Parkinson’s, PSP and MND where the referrer hadn’t because I had seen those features before...
But any decent clinician should be able to say “I dont know...”
 
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