Finding an indicative difference in a tiny, yet random sample appears to have accomplished more than the guy yelling "small sample size" - and, which I find ironic - "waste!" here. They managed to add a tiny bit of contrast to a picture that's totally blank, and provide 15 pixels of data, please explain how that's supposed to be worthless?
By the same logic, if I manage to cure an extremely rare type of cancer under certain circumstances when it's detected early on, I get fired for having too little success? I mean, what? Seriously?
By all means, prove them wrong, but stop the yelling. That's even more worthless than any form of pioneering research.
It hasn't been established whether this has "accomplished" anything at all or if it's a false positive. That's what's being discussed in the Twitter thread.
Because you can easily find "a tiny bit of contrast" by comparing any two things; there will always be differences. this doesn't demonstrate that it isn't just noise and this difference is biologically and clinically meaningful.
Also, "the yelling" is called peer review. It's the entire basis of science.
Peer review does not involve trying to replicated the results as far as I'm aware... it's just commentary, hopefully by qualified people, on the perceived standard of the work at hand.
Also, this technology is brand new. I mean, brand new. Single-cell RNA seq is only a few years old; single-nuclear is even newer. There are significant problems with analyzing this data, mostly related to the necessity to correct statistically between samples to remove batch effects before you can cross-compare. This is very, very hard and in general we are bad at it. I would say we can't really do it yet, and so experiments purporting to show differences between patients are likely to be the result of statistical artifacts, and not actual biological differences.
One complicating factor with a lot of these studies is how "autism symptoms" and the like are measured. Specifically, they measure something like "how much distress is the autistic individual under compared to how much they can handle". High level of distress leads to meltdowns, inability to handle outside behavioral demands, etc, and shows up as higher autism symptom load.
So this study is, IMO, much less about "gut problems cause autism", and I highly doubt that these individuals get any less autistic. A fairer characterization is "autistic people with gastrointestinal distress are less able to deal with things in general, and fixing the GI distress allows them to handle social demands better".
I think there may be people whose brain works like an autistic brain in that the things that specifically distress autists also distress them. But they are good enough at tolerating distress that they don't actually show the symptoms of autism.
If people like that exist and we don't consider them autistic, then improving someone's ability to deal with distress can indeed reduce or even cure autism.
Unrelated : In this article double f, like in "affected" are rendered with the second f bigger than the first (both on firefox and chromium). I looked inside the css editor and the font seems to be ("Libre Baskerville", Georgia, Times, "Times New Roman", serif).
I guess this is probably to improve readability but it doesn't do this for other pairs of repeated letters.
It kind of sent me into a rabbit hole as I thought font were defined for a single letter only. I did a quick search and I couldn't find the rules which defined fonts. Is there some pattern matching for sequence of characters ? More importantly, when trying a new font how do we know that there aren't special cases like this ugly "ff" ?
Searching for "fonts ligatures" will give you more reading material.
>I guess this is probably to improve readability but it doesn't do this for other pairs of repeated letters.
Ligatures are mostly a style thing from the days of handwriting that got brought forward into print.
>Is there some pattern matching for sequence of characters ?
Yes, combinations are pre-defined in the font and picked up the renderer. In this particular case, LibreBaskerville defines a combination of two f's to render the first f in a slightly smaller size.
Dr Exley of Keele University has been studying the role of aluminum in autism.
> Levels of mercury, lead, and aluminum in the hair of autistic children are higher than controls. Environmental exposure to these toxic heavy metals, at key times in development, may play a causal role in autism.
"Assessment of Hair Aluminum, Lead, and Mercury in a Sample of Autistic Egyptian Children: Environmental Risk Factors of Heavy Metals in Autism"
Since always? It’s a developmental disorder, and a disease is “a disorder of structure or function in a human, animal, or plant, especially one that produces specific symptoms or that affects a specific location and is not simply a direct result of physical injury.”
Pretty much every medical body would list it under its classification of illnesses.
They're all different and display different characteristics,have differing needs and have different mental health issues. Child 1 is about 2 years behind their peers educationally and socially, Child 2 is on par.
The fact that it's a massive trigger for someone doesn't mean it's less of a disease. Maybe the problem is the negativity the word "disease" brings, but someone who suffers autism is a diseased person.
Perhaps the GP was referring to the role that social norms play regarding whether some abnormality is considered a disease or not, and the ensuing debates about whether or not is should be.
Any abnormality that adversely affects the form or function of the human body that does not stem form physical injury is a disease.
The problem here is that most people think that those who suffer from autism are the quirky guy at work who’s good at math while in reality most of them would be in diapers trough adulthood.
In reality it is a terrible debilitating disease that enacts a huge toll on both those who suffer from it and their families.
I really hope no one would have to live through the fear that they can’t die because no one would be there to provide the life long support their child might need, not to mention having to live with that responsibility for the rest of their natural life.
The issue is that it's really both. It's kind of pointless to debate the effects of autism when one side is thinking "Light Aspergers" and the other "Adults in diapers".
Unlikely, at least not in a clinically useful manner. A disease is a disease, one of the strongest arguments against the "high functioning" part of the autism spectrum these days is that these people don't seem to exhibit much if any of the comorbidity syndromes prevalent to autism especially the physiological one.
The lower you go on the spectrum the higher the chances for comorbidity for a lot of other conditions, mitochondrial and metabolic syndrome, fragile x chromosome, gastrointestinal diseases and many many more horrific things.
For example the reason why many people who suffer from autism would require diapers after being potty trained isn't because of MR or any other intellectual disability but because they are more likely to suffer from encopresis which leads to fecal leakage.
It also doesn't help that the image of autism was changed from kids that would require tremendous support for the rest of their life to SV engineers making 500K a year that can't seem to be able to not be a jerk or are too introverted.
As an anecdotal evidence I managed to get myself diagnosed on the spectrum in the UK I went to an official diagnosis center and had sessions with an "occupational therapist", at no point have I ever seen a doctor not to mention a neurologist.
As morbid as it sound I have that framed just by my ordained minister license which I got despite being Jewish.
If ASD has a single or a subset of related underlying genetic causes then it's a single disease, and if these causes are present both in high functioning and low functioning autistic individual then it is truly a single condition, however it is still a disease just like relapsing MS is a disease even if it never fully flares out.
That said however I have a strong feeling that the more we understand the epidemiology of ASD the more likely we'll find out that it's much more likely a group of distinct diseases with different causes. And some might not even be classified as a condition anymore.
"The lower you go on the spectrum the higher the chances for comorbidity for a lot of other conditions, mitochondrial and metabolic syndrome, fragile x chromosome, gastrointestinal diseases and many many more horrific things."
Or the greater the likelihood that the autism symptoms are caused by one of these conditions as opposed to it being a primary condition. Fragile-x in particular is a genetic condition known for its physical and mental effects, much like like prader-willi syndrome or down syndrome. It's just as likely that effects from these conditions are being misdiagnosed as autism.
Your post seems confused more generally, though. What clinicians are diagnosing with ASD is a cluster of symptoms, not a specific syndrome. Symptoms can have multiple etiologies and that would still be useful clinically. A cold is treated similarly regardless of the exact viral strain causing the infection.
That a particular person doesn't have to deal with anal leakage is not an argument that they don't have a different condition.
"As an anecdotal evidence I managed to get myself diagnosed on the spectrum in the UK I went to an official diagnosis center and had sessions with an "occupational therapist", at no point have I ever seen a doctor not to mention a neurologist. As morbid as it sound I have that framed just by my ordained minister license which I got despite being Jewish."
If I was willing to lie to a therapist, I could probably get diagnosed with depression, anxiety, bipolar disorder, or any of a large number of disorders, but the presence of malingering creeps doesn't disprove the existence of those conditions.
Unless evidence becomes available to make such distinctions becomes available it is confusing and misleading to define autism differently than the standard way.
It is really dangerous to claim that autism can't be a serious condition unless it is alongside low IQ or physiological symptoms. It is also entirely unnecessary to stigmatise autism by calling it a disease, when it is so often inextricably linked to a persons personality.
Those with autism absolutely can be high functioning in the sense that they don't have the kind of co-occurring conditions that you describe. This does not always mean they do not need what most would see as drastic interventions and care.
People with autism often have a high ability to function on some social axis but are dangerously unaware of social conventions in others. Those with autism that lack the proper support can hurt themselves, they can hurt others, they can cause massive social disruption and they can end up with serious mental health problems. A diagnosis of autism can help society to provide much needed support.
We owe it to everyone in society to think about how we can help people without considering their states of existence defective.
The problem is how diverse people with Autism are. So in reality autism is the quirky guy with social problems, those who need life long support, and everything in between.
The DSM-III, published in 1980, established autism as its own separate diagnosis and described it as a “pervasive developmental disorder” distinct from schizophrenia.
The DSM is largely a tool for billing insurance, it has so many different "disorders" listed that everyone falls into at least one category or another at some point in their lives.
Almost. It was declassified as a disease by the American Psychiatric Association in 1973 [1] (and by the American Psychological Association in 1975 [2]), and the DSM-III has been the first edition to not include homosexuality.
It still contained ego-dystonic homosexuality (TL;DR: "I don't want to be gay") - which was opposed by the APA in 1987 [3] - until 1988, with the publication of the DSM-III-R.
I don't know whether autism should be considered a disease or something else, but having a disease doesn't make a person bad or less valuable.
How about we work on understanding and acknowledging that having a disease or mental illness or physical disfigurement or disability is ok, no matter what it is?
Maybe I am reading too much into this question. I am sorry if I am. It's a pretty sore subject for me. I'm not trying to offend anyone.
There was an HN thread the other day about how some (many?) autistic people don't think there is anything wrong with them and that they wouldn't "cure" themselves even if there were a "cure" because from their point of view there is nothing to cure and they are happy the way they are.
That's always puzzled me. It's certainly an individual's right to decline treatment for any medical condition, and to some extent I can understand why someone with autism might choose to do so, but that doesn't make it any less of a medical condition.
Logical thinking is really easy for me. Also abstracting, pattern matching, "out-of-the-box" thinking.. Loyalty, honesty and helpfulness are also positive traits common among autistic people.
Having a unique worldview certainly is helpful in some situations. However it also makes other situations, especially pertaining to social interactions with strangers, rather challenging at times..
Greater general logical reasoning ability. Also, many people with ASD resent 'NTs' ((N)euro(T)ypical people), and view their existence with—not animosity, but as something they would not like for themselves.
It's still their medical condition and as long as it doesn't manifest itself in ways affecting other people it should be up to each individual how to deal with their medical conditions and not have treatment forced on them.
Because forced treatments rarely work for anything as patient compliance is a massive factor for actual treatment success.
Some highly functioning adults which some medical professionals advocate shouldn’t even be on the spectrum might feel like that.
Most people on the spectrum will require help to go to the bathroom or complete other basic tasks so them making medical decisions is unlikely.
There is now a pretty big concern about the over-diagnosing of ASD especially amongst functioning adults.
In many countries you can be diagnosed in a commercial center without even seeing a doctor, it has become almost a business similar to the ADHD “epidemic” of the early 2000’s.
So I'd consider myself one of these people. And I think it's really important that people like myself are grouped with those with more severe forms of autism. Bascially because I'm pretty sure the root cause is the same, I react to all the same triggers as classically autistic people, I'm just better able to control my reaction.
It's difderent to the ADHD "epidemic", because it generally doesn't involve medication. Rather it enables an awareness of the sorts of things that one might find difficult, and aids them in avoiding, dealing with, and working around those things. I fail to see how this can bea bad thing.
I agree that those with more debilitating forms might want treatment.
>I agree that those with more debilitating forms might want treatment.
Those are the majority.
>So I'd consider myself one of these people.
I got myself positively diagnosed also, not autistic in any way, the behaviour therapists that can diagnose anyone in the UK should be thrown out, any diagnosis especially in adulthood that does not involve multiple doctors including neurologists and psychiatrists is not something I take too seriously.
>And I think it's really important that people like myself are grouped with those with more severe forms of autism.
Why? there is no clinical significance to this. I'm being honest here, from your perspective what is the clinical significance of your diagnosis in general not to mention of being grouped with people who will suffer from fecal leakage all their life?
If your diagnosis is not used to treat or manage your condition it is not clinically significant.
>Bascially because I'm pretty sure the root cause is the same, I react to all the same triggers as classically autistic people, I'm just better able to control my
reaction.
Considering that you are highly unlikely to suffer from any of syndromes that are comorbid to low functioning autistic individuals I would strongly disagree, and I have a strong feeling that once we understand the genetics of this disease better especially in relation to FXS and mitochondrial syndromes I will be right.
>It's difderent to the ADHD "epidemic", because it generally doesn't involve medication.
The epidemic is about just how many diagnosis centers are popping up targeting adults as a business with little to no oversight.
This is really terrifying that we've watered down the diagnosis of autism to a behaviour therapist who had a 6 week course that can diagnose you in a single session.
>Rather it enables an awareness of the sorts of things that one might find difficult, and aids them in avoiding, dealing with, and working around those things. I fail to see how this can bea bad thing.
No it doesn't in fact it detracts severely from those who actually need help the most, those without a six figure salary.
Just look at where the funding and attention goes these days vs 10 or 20 years ago.
> I got myself positively diagnosed also, not autistic in any way
I'm the opposite, I have never gotten myself diagnosed. As you say, there doesn't seem to be much point to this.
> Why? there is no clinical significance to this.
I'm not really looking at this from a clinical perspective, but from a research perspective. From the perspective of finding out more about why this condition exists and what causes it, I think it is pretty significant there are large number of people who seem to be affected in similar ways, but for whom the condition is not so problematic.
Well depending under what they've been diagnosed, most likely PDD-NOS which the NOS stands for not otherwise specified which was a catch all branch of the ASD spectrum that has been removed from the DSM.
It's still a condition under the ICD but the ICD being international tends to severely lag behind the DSM.
So if they were diagnosed after 2013 they likely were diagnosed with F84.1 Atypical Autism.
Asperger's is still on the DSM but might also be moved to its own category since it's the only "distinct" classification in the ASD where there isn't clear ~4:1 ratio (or higher) of males to females.
The extreme dimorphism of autism and it's comorbidity with other x chromosome related syndromes including FXS is quite distinctive and Asperger's does not usually exhibits this.
"Most people on the spectrum will require help to go to the bathroom or complete other basic tasks so them making medical decisions is unlikely."
What's your source for this claim? Is this the majority of all people diagnosed with ASD, or just the majority of people diagnosed with ASD that you believe should have been diagnosed?
1/3rd of people diagnosed with ASD are non-verbal.
56% would have an IQ below 85, 83% would have a other developmental, neurologic, chromosomal, and genetic conditions, with down syndrome, fragile X syndrome and tuberous sclerosis accounting for about 10% of these.
Overall this varies based on how many things you tack into the ASD, with PDD-NOS being thrown out of the DSM in 2013 it would take probably another decade if the needle moved.
Your statistics don't support your claim. Non-verbal people can use toilets. People with an IQ less than 85% can learn to use toilets. 'Developmental, neurologic, chromosonal and genetic conditions, includes ADHD and dyslexia, neither of which prevents the autonomous use of toilets.
Also, all three of these studies were conducted either before or shortly after the release of the DSM V, and explicitly use the DSM VI diagnostic criteria for autism.:
"Although new diagnostic criteria became available in 2013, the children under surveillance in 2014 would have grown up primarily under the DSM-IV-TR definitions for ASD, which are prioritized in this report."
You seem to be arguing that the relaxed criteria of the DSM V is invalid because the studies on people diagnosed with the stricter methods suggest a more severe condition. This is circular reasoning.
14% of the population have an IQ below 85. It's low, but not to the point of being a disability.
> 83% would have a other developmental, neurologic, chromosomal, and genetic conditions
What qualifies as a "condition" for the purpose of that statistic? What's the percentage for the general population? Frankly, if you actually include all genetic conditions, I'd be surprised if much less than 100% of the general population have one.
As is stated on their homepage[1], vaccinepapers.org takes the position that no currently marketed vaccine is acceptably safe for use because of long-debunked concerns over aluminum adjuvants causing autism.
I asked you about the paper specifically - why do you consider it pseudoscience? And long-debunked? There is really recent research about the dangers of aluminum as an adjuvant. What safety studies of aluminum as an adjuvant are you aware of? I haven't found any really.
