General problem statement: Many different genetic variants are associated with autism, some strongly, most very weakly. Many have suspected that this plethora of genetic variants might converge onto a smaller set of biological pathways affecting neurodevelopment in ways that results in an autism phenotype or phenotypes. This has been our hope, because the alternative scares the hell out of a scientist. The saying goes that if you met one person with autism, you've met one person with autism...meaning there is a ton of heterogeneity within the autism spectrum, even if a certain set of core autism symptoms are displayed. So there was a existential crisis that there is no "autism", just a billion autisms, where your sample size is always N=1. By demonstrating evidence that many variants converge on the same biological pathways, there is hope that understanding autism is tractable.
I'd expect one of the things that makes this difficult, too, is that there's a missing component of the "machine" - the genetics affect the pathways, which affect (maybe?) things like signal propagation or network regulation in the brain, but the actual effect of that is on the patient's experience of consciousness, and it's difficult for someone to get more than N=1 of those via commonly accepted legal methods - otherwise, we're all just looking at the outside of the box and saying "huh, this box acts differently than that box, weird."
Analogy: Two programs can produce nearly identical behavior at the UI level, but be implemented very differently. Diagnosis operates partly at the "interface" level, but what happens underneath can differ greatly.
What I know of the brain is that it’s basically a chaos machine - a ton of activity that’s just on the edge of a cascade, a bunch of feedback loops, a bunch of emergent behavior, and it’s kind of impressive we function at all to begin with, so it’s not surprising there’s so many ways to perturb the output behavior.
I think the majority of the public would like to better understand how we came into this position. There's nothing wrong with the topic of autism as research, but it's been a political football for so long that there are many reasonable doubts about methodology, diagnosis, and relevance to everyday healthcare. I understand there may be complications with some patients that require medical diagnosis and intervention, but does that not imply there should be a much more meaningful label on those cases than just the broad umbrella term of "autism"?
On one extreme, we have people thinking they're autistic when they're actually just awkward and inexperienced in life. On the other, we have people with epilepsy who prefer the label "autism" even though they're merely correlated. Something is wrong here. Not with the science, but the discussion.
And you know that they're "just" the latter, and not autistic, because? They don't look like the Rain man?
This requires some citation or justification.
Diagnosis is not a criminal conviction in a North American court of law. In particular, reasonable doubt -- particularly among casual, non-clinical, self-deputized jurists who don't generally have any insight into the patient's chart, let alone medical qualification whatsoever -- is not a sufficient justification to withhold diagnosis.
In your post, you are leaning a bit too heavily on vibes to do the heavy lifting in making your points. For example, you claim there exist people with epilepsy who prefer to be labeled as autistic, but you don't say how many people are doing this, why they are doing this in a way that doesn't strawman, nor why this is even topical.
My interpretation is that you are hoping the reader will have specific visceral (vibes based) reactions to these facts and the drama of the spectacle you've described -- e.g. "yikes, some morons are conflating correlation with causation/identification and using that faulty reasoning to claim a diagnosis they don't deserve". Please correct me if I'm misrepresenting what you are trying to communicate, it is not my intention
My suspicion is that this is a tiny number of people to begin with, and not an indictment of autism diagnosis in the way you believe it is. In fact, most of the people you seem to take issue with are self-diagnosing. What specific "methodology, diagnosis, and relevance to every day healthcare" are you taking issue with then?
Also nature is absurdly cavalier about using whatever it’s got at hand, so it’s not so much “metric socket wrench #5” as “the pry-bar/hammer/thing we use to hold the hood open” that gets fucky when the genes go wrong.
We already do treat it as the latter. The medical definition of autism is basically just any neurodevelopmental disorder that isn’t ADHD.
"we do, autism is everything that isn't ADHD"
...what? I must be stroking out, but I have no idea what point you're making here...?
That's not really true. Not to mention the very TFA, and the research that led to papers like it, is based on the opposite.
In the end, maybe we are just all unique individuals with our character sliders set in various forms.
The concern is that autism as a rigorous category may be useless, but that doesn't mean that autistic people are suddenly neurotypical -- a term that is more politically than scientifically oriented. People who are not autistic broadly are allistic, to be precise with language. They may be neurodivergent in other ways.
What's even the point of having a general diagnosis umbrella, if the symptoms are different?
Different asthmatic people struggle with different things, in different ways too, but it's useful to have a general diagnosis umbrella to cover those who have asthma even though symptoms and effective treatments may vary.
Work is ongoing to get better defined categories for autistic people, but for now at least we've got a category for people that match a broad set of traits/symptoms/challenges to work from.
I do think that the current ASD umbrella as written in the DSM is so broad as to seem nearly meaningless when take in isolation. It’s not meant to be in isolation however, it’s defined first and foremost as a disorder, so the symptoms need to cross some threshold of tolerable. It’s also associated with a growing body of research as to how nervous system development can cause related clusters of symptoms.
Is autism as we understand it scientifically accurate? Probably about as much as anything hovering in the intersection of social sciences and medicine. It does have some predictive power. If you meet the diagnostic criteria for autism you are likely to have certain comorbidities for example. Having certain autistic traits are good predictors of certain outcomes later in life. And we do have better therapies especially for young people than we have in the past.
The fact that people can have non-overlapping clusters of traits and still be autistic does seem problematic. It may not be the right model. Just my $.02, I’m not the autism researcher in this convo, but I am autistic :)
The fact that they don't is why diagnostic tests exist and work.
Same with IQ, if everyone is 150IQ, then everyone is still 100IQ, as per the definition, so "normal".
Divergence can only be mentioned when talking a base value to diverge from. What if neurotypicals are actually the neurodivergent ones?
That would need them to be the minority, which they are not.
Same way sight is not the special case, blindness is.
For ASD 3 and 2 it's even easier to see it's not "everyone".
Anyway, we do not really know what is causing it, have no real idea what it even is. But we must apply occam's razor very very quickly!
If I were to include additional biological possibilities, I'd include: a) birth control -> waiting to have children until a later age, more de novo mutations due to age. b) assortive mating, since some careers tend to attract those on the within and on the edges of the spectrum., c) perhaps controversially, and with the very little research on the subject, endocrine disruption from plastic waste exposures.
Is it politically correct to write about later stage pregnancies? It would be insta ban only a few years ago.
Perhaps soon we will be able to openly discus something else, that may cause endocrine disruption, not just plastics!
> general cognitive decline
According to whom? The Flynn effect famously says the opposite: https://en.wikipedia.org/wiki/Flynn_effect
as we built better telescopes, we found more stars
like all things in life, it's not the only variable. but better recognition is absolutely a factor.
It seems there is a high rate of mutations, making the non-mutant ensemble incredibly fragile. How did this work in the past? Was there significant selection against mutant varieties?
1. common variants. Common variants are genetic variants weakly associated with autism that we all have to some degree or another, and that only result in autism given a sufficient number of them are found in a person..or at least that's a common idea and pretty well supported. These variants are inherited.
2. rare de novo variants: These are spontaneous genetic variants that the parents did not have, but there was a mutation during production of sperm, for example. Many times, rare de novo variants that occur in highly conserved genes cause tremendous neurodevelopmental problems, spanning death often prenatally, other conditions, and for, autism, most frequently with severe intellectual disability.
Common variants are heritable and common, and are part of the normal spectrum. Only with a very large load do these result in the severest conditions, I think, like intellectual disability.
Occurrence of rare de novo variants are associated with things like age of father (older, less reliable production of sperm without genetic mutations), pesticide exposures, etc.
There is also a real immune factor involved, as well as environmental exposures, which can interact with genes.
Suppose that there was a gene that made you more likely to be good at white collar thinkwork. You meet your partner at a professional event and have a baby. The baby now has between zero and two copies of the gene. And depending on gene dominance, the probability of at least repeating the ratio of the previous generation is like 75% IIRC.
Repeat, and fold back in. Next generation, you have a couple folks with both mutations, who exhibit an even stronger affinity for quiet thoughtful work (and people). Their kids will have a 100% chance of carrying at least one copy, right? The numbers for the third gen will be even higher.
This is all massively simplified but yeah. Mendel has the answers. The picture is even clearer if you suppose multiple genes whose effects stack, which appears to be the case with the ol 'tism.
And, finally, there is the lived experience of why this happens so much. Speaking as someone on the spec, I could never imagine life partnership with an allistic person, nor can I imagine such a person putting up with my deficiencies and quirks. Moreover, quite literally all my friends are also autspec and would never interface with someone who isn't. So I believe ASD is strongly selected for by people with ASD.
But given the volumes I'd expect we are in the hockey stick armpit of an exponential curve. Like HIV bubbling away in 1950s Africa long before we even had a name for the condition, nineteenth century colonial industrialism probably quietly worked up a stock of the relevant mutations, and the mutants found each other in the grand blender of the 20th century's upheavals.
As it were, silicon valley is one of the precipitants of sex, war, and intellect.
https://www.factcheck.org/2026/08/trump-and-rfk-jr-repeat-fa...
In toto, the conclusion of the paper:
> Together, these findings define a dual-layered model of molecular convergence in ASD: convergence through shared interaction networks in the wild-type state and convergence through recurrent functional consequences of interaction rewiring in the mutant state. More broadly, this work establishes a scalable framework for systematic interrogation of the autism proteome, enables prioritization of druggable protein interfaces, and provides a rational foundation for precision therapeutic strategies aimed at restoring neurodevelopmental trajectories.
I have no grounding here. Does anyone want to have a go at teasing the meaning out?
Instead, evidence has been growing that epistasis, the nonlinear interaction between genes and other genomic regions, predominates in explanations of most phenotypes.
What this paper does is show where upstream of the genome various combinations of mutations can interact to cause damage during development, thus leading to the phenotype. Rather than correcting a particular mutation, or targeting drugs to their protein products, we may find downstream protein-protein interactions that are strong drivers of the phenotype, and hopefully find ways to prevent/reverse these effects.
It hopefully gives hints which will be tested,better understood, and show actual mechanisms in humans. But probably not for years.
Patient: What's the good news?
Dr: We have a two step treatment to improve your social-emotional life.
Patient: What's the bad news?
Dr: The first step is, we have to turn you into a frog...
His mother nearly bankrupted herself paying for private school for kids on the spectrum. His parents sued the local school system because they didn't have any teachers who had any skill with autistic children. couldn't protect him from bullying and couldn't or wouldn't follow the IEP. (Note: this is one of those events that ruin retirement plans). The state claims to have resources for my partner and her child, but when they try to get help, the state says it didn't realize she would need that much help.
Then there is the never-ending struggle to get appropriate psychiatric and psychological help for him, and if you think it's hard to find a psychiatrist for ordinary mental illnesses, finding someone who knows how to deal with kids on the spectrum is almost impossible.
His disability has had a negative impact on my relationship with his mother. As she has to make room for her child's emotional outbursts, I make room for my partner's angst about having a child who will never function on his own. There is a big loss of day-to-day intimacy because you never know when you will have to put up an emotional barrier against his behavior.
yea, in my eyes, that counts as broken
This isnt a moral judgement, theres nothing wrong with being disabled, but it remaims a disability that many people struggle due to.
As a comparison, if you put a bonobo with chimps the bonobo will be severely disabled socially, but it won't be when compared to other bonobos.
The fact that autists can communicate with each other does not fit typical models of disability. A blind person should be blind to another blind person.
These people are not operating within the nominal range of human behavior that might be classified as "functional."
Only 20-30% of adult Autistics can even hold a job. Not a 'good' job, mind you, ANY job.
Still, my point stands. Most people who have it badly enough to get diagnosed can't hold jobs. Autism isn't some quirky personality trait that makes you a special cool kid on Tik-tok. It's a government recognized disability.
In Uk they made studies about this: https://www.kcl.ac.uk/news/up-to-90-of-middle-aged-and-older...
But I agree broken is not the right word for those poor folks because they were never functional to begin with!
I would guess that even if this platform has more autistic people due to being tech focused, autistic tech nerds and programmers are on the extreme end of high-functioning. Many low-functioning autistic people will never be able to have a job or live by themselves.
This is the same issue as high-functioning ADHD'ers saying "ADHD is my superpower", meanwhile people with severe ADHD do significantly worse than the general population in basically any metric, up to having a lower life expectancy.
This isnt to say its morally bad, theres nothing wrong with being autistic or having ADHD, but it is a disability. Just like someone who's deaf can live a totally happy life but still be disabled because they are not able to hear, someone with autism is disabled because they are not able to process social cues at the same speed, even if they are a great person and have a good life.
There's no judgement or moralizing in having a disability. Autism and ADHD like you mentioned are disabilities.
But the people who have them are not broken. Having a disability means some part of your life is more difficult. But that's very very different from you as a person are broken.
For example, if you can fix the environment and the person can now function equally to someone without a disability, then maybe it's the environment that's broken. If you can fix the social expectation and suddenly the person can function equally, then maybe the society is broken. Even if you cannot accommodate the person's needs, insinuating they are broken is not a great framing -- it creates a sense of pity rather than constructively looking at means to support them.
If you see a person without legs, do you tell him he is a piece of shit because he can't run? So why harass autistic people?
If you have not yet realized it, here is a black pill for you: most people are deeply manipulative and bullying basically all the time. For example nearly all social rules that are commonly accepted in society are basically about which kinds of manipulations and bullying of other people are accepted by most people vs not.
With this in mind, the answer to your question
> So why harass autistic people?
is trivial: because it is currently socially mostly accepted.
They have to hide themselves because it's socially acceptable to harass them.
It's been proven multiple times that neurotypicals refuse to interact with autists automatically https://www.nature.com/articles/srep40700
Their experience of the world is a disorder "to be cured"
If the future is here but not evenly distributed then the dystopia is here but not everyone lives in it. Some maintain it.
The same is true of basically anyone that doesn't fit into what you typically see - there's always some people that will treat them poorly. It's unfortunate, but was probably adaptive during our evolution, and something we just have to deal with today.
It’s such a wide concept. Essentially it boils down to how a brain processes sensory information and at what point it becomes overwhelmed.
We all have tolerances set at different gauges. It’s a disability if it’s at odds with the environment a person finds themselves in.
I'd say the opposite is true, frankly. I'm more worried about people's inability to follow simple instructions, like making a hamburger correctly.