A Boy, His Brain, and a Decades-Long Medical Controversy

[PisForPerseverance]

there is much overlap with ME/CFS and PANDAS, and the difference is just which symptoms are focused on or emphasized. ME/CFS may have all the same symptoms as PANDAS, and vice versa, but each disease focuses on different priorities. ME/CFS focuses on energy and PEM symptoms, which may be more severe or limiting in that group of patients. The PANDAS group may focus on emotional/cognitive behavior as that is a bigger complaint or limiting in that group, but who also has energy and PEM problems. There could also be a difference in presentation due to age groups and environement these diseases are generally identified/most commmonly found in: children in the developing years for social and educational developement vs middle age working women.

So I looked into it. We're definitely saying the same thing but PANS is a post infectious disease that's ocd specific. And PANDAS is a a kind of PANS but it's a strep specific post infectious disease that's ocd speficic. It seems like ocd must be a symptom to be PANS or PANDAS. But other cognitive and emotional (aka neurological) changes are mentioned to be possible to occur alongside it. And the possible movement part with tics.

Post infectious diseases really need so much more broad and specific terminology, diagnoses, concepts, classifications, and investigation, to start. It's all going to be changed, a lot I think, coming up. I mean maybe it'll take many years to get a decent set of diagnoses that reflects post infectious disease. And then those diagnoses will change and merge based on new understandings, and new symptoms from novel infections.

I think maybe PANS should not be ocd specific. But there's an argument that being really specific when creating and classifying post infectious diagnoses is a good thing. But this just gets into classification. I mean should we just say Viral or Bacterial (or the other pathogens) Encephalopathy for a lot of things, anything post infection that's suspected or shown to have brain inflammation happening? We need better and more widespread diagnostics for diagnosing brain inflammation it seems. I think that will be revolutionary.

And I think it should not be pediatric, even if it is kept ocd specific. Judging by what that doctor said in the scientific american article, post infectious ocd happens at any age. Maybe it does happen more in kids like you said. That definitely seems probable at least from what I hear about when most people get ocd, having gotten it myself as a teen and hearing the popular narratives repeated to me.

I suspected there had to be some incidence of getting ocd gradually or acutely with ME. I mean mine got worse dramatically afterwards. But I didn't have a guess of what that prevalence could be. I'm going to see if it's spoken about by people or written about in a study anywhere. But for now, your post got me thinking about the overlap in the other direction: whether the kids who are diagnosed with this very specific post infectious disease manifestation, have fatigue or post exertional malaise sometimes. Mind you there's still little awareness and diagnosis of PANS I believe. So what we can know is limited, just like with ME. I found this. Man, it is good to have research to help answer a question. When it exists. It's a small study, but I was surprised, pleasantly, that someone is looking into it.
Chronic Fatigue Symptoms in Acute Early-onset OCD and/or PANS

Chronic Fatigue Syndrome (CFS)/Myalgic encephalomyelitis (ME) affects roughly 2.5 million people in the United States, and is challenging both in diagnosis and treatment. Many case definitions have been used in reporting the prevalence of CFS/ME in children and adolescents. Criteria in common include post-exertional malaise, a prolonged period of unexplained fatigue or unrefreshing sleep, pain, and autonomic manifestations. These features may overlap with some psychiatric symptoms, e.g., depression and pain amplification, which are also commonly seen in children with abrupt early-onset obsessive compulsive disorder (AEO-OCD).

We define AEO-OCD as sudden-onset OCD which develops to full symptom severity within 72 hours in childhood, and is diagnosed by a psychiatrist. Pediatric Acute-onset Neuropsychiatric Syndrome (PANS) is characterized by AEO-OCD and/or severe eating restriction plus additional neuropsychiatric symptoms. To date, no studies have described the prevalence of chronic fatigue symptoms in children with AEO-OCD and/or PANS.

Conclusion: Our study shows that CFS/ME occurs in 1 in 6 patients with AEO-OCD. The prevalence rate is much higher than the general adolescent population (1 in 100-200). This underscores the need to systematically assess fatigue in this group of patients. Future studies should determine possible shared biological underpinnings between AEO-OCD/PANS and CFS/ME.

It was taken from the Standford PANS clinic.

 

[PisForPerseverance]

Ok no I was wrong. PANS is not considered to be only post infectious. A range of causes are considered. I thought the A stood for autoimmune, as it does in PANDAS. Since the autoimmunity in PANDAS comes from strep, I incorrectly thought the A in PANS meant it was also post infectious autoimmunity. But no. In PANS it stands for Acute-onset. Not just infectious, although that seems to be the majority. PANDAS is still a subset of PANS.

The other thing I was wrong about is that apparently, it's either ocd OR restricted eating that is the main symptom of PANS and PANDAS. Here is the full diagnosis: About PANDAS, PANS, and AE

PANS is a clinical diagnosis. The following is the “working criteria” as listed Dr. Swedo's paper on PANS:

1. Abrupt, dramatic onset of obsessive-compulsive disorder or severely restricted food intake.
2. Concurrent presence of additional neuropsychiatric symptoms, with similarly severe and acute onset, from at least two of the following seven categories: Anxiety Emotional lability and/or depression Irritability, aggression and/or severely oppositional behaviors Behavioral (developmental) regression Deterioration in school performance Sensory or motor abnormalities Somatic signs and symptoms, including sleep disturbances, enuresis or urinary frequency
3. Symptoms are not better explained by a known neurologic or medical disorder, such as Sydenham’s chorea, systemic lupus erythematosus, Tourette disorder or others.

The research, diagnosis, and treatment of PANS and PANDAS is really interesting. It has implications for studying, diagnosing, and treating ME. I'm going to make a thread about it because it's of growing interest to me as I figure out what happened when I was a teenager and at my ME onset.

 

[Rufous McKinney]

I'm going to make a thread about it because it's of growing interest to me as I figure out what happened when I was a teenager and at my ME onset.

I do now wonder whether I would have been diagnosed with some of this, as a child. It just had not been invented yet.

A childhood nutrition expert online made no mention of these illnesses affecting food choices when I wandered out to read about it- how disappointing.

 

[Pyrrhus]

Related discussions:

Anyone else with PANS/PANDAS?
https://forums.phoenixrising.me/threads/anyone-else-with-pandas.59402/

Overlap between ME and PANS? (conference abstract)
https://forums.phoenixrising.me/threads/overlap-between-me-and-pans-conference-abstract.88777/

 

[Pyrrhus]

New genetic research:

Identification of ultra-rare genetic variants in pediatric acute onset neurological syndrome (PANS) by exome and whole genome sequencing (Trifiletti et al., 2022)
https://www.nature.com/articles/s41598-022-15279-3

https://twitter.com/i/web/status/1547209654761099268

 

[hapl808]

I got my exome sequenced years ago and the company offers one re-run to see if anything new has been discovered. I always wondered if I needed to give them more guidance than just 'running it' as I'm not sure what they're looking for. The report was minimal, and a friend in genetics said that over time genetics companies were reporting less and less info so as not to disturb people.

 

[SWAlexander]

The report was minimal, and a friend in genetics said that over time genetics companies were reporting less and less info so as not to disturb people.

That is correct.
However, if you have access to "Download Raw Data" (example 23andme) you can enter the results to
"Promethease report" and search in the category or establish a Table.

My question remains, what can we do about it? Doctors are unable to follow DNA results and most of the time the procedure to find the underlining cause, or what has changed or mutated a gene, remains unknown.

 

[hapl808]

However, if you have access to "Download Raw Data" (example 23andme) you can enter the results to
"Promethease report" and search in the category or establish a Table.

I think it was many GBs of data and they didn't provide raw copies at the time - this was years ago when a WES was rather expensive. The 23andme stuff is a fraction of what a whole exome panel provides I believe, although I did that as well so I could use online services like Promethease.

Ideally an adult geneticist would know your symptoms and help interpret it, as a WGS or WES really shouldn't be left up to perusing Promethease. But even many major academic hospitals don't have a single adult geneticist on staff as most people in genetics go into pediatric practices.

 

[SWAlexander]

many major academic hospitals don't have a single adult geneticist

Right, this is the problem.

 

[pattismith]

I am surprised Timothy was not diagnosed with Schizophrenia by psychiatrics.

Here an interesting web page of an independant psychiatric physician dealing with PANS/PANDAS in childs and adults:

Many years ago, I read an obscure paper on “steroid-responsive psychosis.” I have not been able to track it down yet. It described several cases of chronic, intense psychosis, generally schizophreniform in nature, which were not responsive to any antipsychotic pharmacotherapy.

Treatment with prednisone cleared the psychoses.

The authors were not able to find a source of inflammation such as lupus cerebritis, vasculitis, or anything else. The cases I describe are identical to those referenced in this paper.

Grown Up PANDAS: A Fascinating Case Study | Psychology Today