> Autism is genetic. You’re born autistic and you’re autistic for life. Most autistic people are autistic because of genes they got from their parents. This is why autism often runs in families. Much less commonly, other factors can play a role, but usually in combination with genes from parents. There isn’t a single ‘autism gene’. Thousands of genes combine to make a person autistic. Scientists have identified many of these genes, but they think there are still many more to find. And there is no genetic test for autism. We don't fully understand how genes combine to make a person autistic. It is complex and no simple test can give an accurate answer. Genetic testing cannot predict whether a child will be autistic or not, and it can’t be used to diagnose someone as autistic.
Autism is genetic but we cannot do genetic testing and prove that you have autism. Seems like a very circular reasoning.
Genetics is complicated enough that both things can be true without circular reasoning.
I've studied genotype to phenotype mechanisms for a very long time (but from the lens of molecular biology, biochemistry, and biophysics, rather than genetics). The language of genetics- especially in the popular press- is extremely loose and ambiguous, and people trying to understand the genetics of autism using the popular press (or even 8th grade biology genetics) are going to be very confused.
Basically in medicine and biology in general it's best to be flexible- avoid using logical reasoning, instead adopt probabilistic mindset, and assume that the entities you're reasoning about are extremely complex and you only have a small amount of noisy, partial information that is in a highly encoded feature space. You can often measure relationships or statistical linkages that appear significant (even after multiple test correction) but rarely discern the true causal relationship between the feature vector (genome) and the outcome (autism).
One of the biggest surprises in modern genetics is that many phenotypes are determined by the sum of effects of many gene products, including many complex interactions between those gene products. Some phenotypes are linked to 1000+ genes, and there are "only" ~25K genes in the human genome. The whole thing is just crazy and our ability to test for complex phenotypes continues to be very limited.
It seems only natural for nature to have it like this. It’d be hard for evolution to optimize things if the genotype to phenotype mapping was sharp, with phase transitions and such
Indeed. Thanks for the great explanation. Honestly, the complexity would be very annoying if it wasn’t also invigorating and fascinating.
The interconnections between genes has led to proposals of “omnigenic” models, the idea that all genes expressed in a cell affect every given trait of the cell, to some extent.
When it comes to something like autism, it’s a word covering a vast number of traits and behaviors of many different cells that gives rise to that set of effects as seen from outside.
And the issue with genetic testing is, we often only look at specific regions of the genome. Even when we do whole genome tests, and compare whole genomes of autistic folks, what we find is no single origin but many overlapping patterns. No definitive set is found because we are looking at complex processes that have many nodes where mutations can mildly tweak the function. Many such functionally relevant mutations can chain together to give you the signatures of autism, and no two are the same.
All these reasons also point to why we are increasingly realizing autism isn’t a “disease” with a “cure”. It’s a way in which people can be people. It’s time society accepted that and expands itself to accommodate.
How do geneticists go about identifying alleles associated with autism? Seems like the effect size would be very small for most of them, and given the relatively small sample population of humans that can be practically sequenced for this, it seems difficult to separate true signal from statistical noise.
Also is it actually just “a sum of cumulative effects of these alleles crossing a threshold causes autism” or more complex like “Allele A and B together has a very significant effect, A and C has a moderate effect but A, B, and C together is has no effect”
What's an allele? There is no real answer to that question. Or rather, the concept of allele is highly abstract and does not correspond well to actual genomic sequences.
Predicting phenotypes is not a linear function of the genome. It's a highly nonlinear function, affected by complex generative processes, feedback control, homeostasis, and many other active control mechanisms. With that said, you could come up with a proxy score that was a function of the genome and had predictive value for autism (ideally better than binary, with a description of the predicted autistic traits somebody showed).
Biology is the only field I've worked in where both "necessary but not sufficient" and "sufficient but not necessary" can both be the case at the same time.
I understand that they found strong enough evidence that it's a genetic condition, but at the same time it's not one single gene, it's a combination of many that combine to create the full spectrum, hence no easy genetic test. They'll get there in time as technology and research evolve. I don't see any circular reasoning.
Lemme try again: My LLM hallucinates paper citations. I have a strong suspicion that this results from the parameter regime. Is there a test for paper citation hallucination?
If your C code causes a segfault, is it fair to reason that there's a memory management error in the code? Does that make it practical to find where, so that you can just add a check for it?
Segfaults are precise symptoms - they occur only when there's a memory issue. Autism isn't precise, is a collection of characteristics that manifest differently in each person.
Genetic is, for the purpose of this conversation, a precise diagnosis - means you carry parent genes that will cause the issue. Memory management isn't: what caused it? Code error? OS error? Processor? Is it a bad code path or a unexpected exrtenal state?
Finally, an analogy of your analogy: you measure someone temperature and it's 40C. You diagnose a fever.
The analogy is "just because most X are caused by Y, doesn't mean you can easily test for X by looking at Y"
I don't think your first point (how specific/precise are the symptoms of X) changes things, and I think your second point reinforces the analogy rather than weakens it. Most segfaults are coding errors and not OS or hardware errors ("look for horses, not zebras" / "SELECT isn't broken"). Even good medical tests have false positives and false negatives
> Most autistic people are autistic because of genes they got from their parents. This is why autism often runs in families. Much less commonly, other factors can play a role, but usually in combination with genes from parents.
what if segfaults only occurred when the errant path was executed in manners not initially designed for? or alternately, if that code path never got touched, would we ever have known about the segfault? should we keep focusing on segfaults or look at the ways that programs are being operated out of scope?
That seems like a pointedly naive viewpoint. You can have clearly predictive population level statistics about prevalence in family groups without clearly understanding the (very messy and unbelievably complicated) way that genetics shapes brain development.
Some of what you've quoted highlights my own belief on some of this:
Autism is also multiple things.
That may provide some insight about how there is not a "single `autism gene'" and how they hedged a bunch of these statements with "most" or "usually".
Maybe some day when we as a species understand brains better, some people will get a more precise label than "on the autism spectrum".
This rings true to me. As someone with an autistic loved one, I obviously think about it a lot.
If it were as simple as there being some simple genetic basis that gives you a single thing called autism, I would expect it, honestly, to have naturally died out long ago, just because it makes so many things harder for people that it cannot possibly have not had a disadvantage to reproduction.
I would expect it's not caused by genes themselves, but by control DNA. That's where a lot of the subtle structural stuff happens. But that's also hard to test for. It's like how you can't test how tall someone is going to be.
I've also read ages ago in Scientific American that the difference between our brains and chimp brains is almost entirely in control DNA, not in genes. It matters a lot, but is often overlooked. (It used to be called "junk DNA", before people realised how important it was.)
I predict it would be possible to quantify the effects objectively, as a thought experiment:
assuming functional proteins, gene regulation is about binding affinities of cellullar chemical species to promoter regions, so 200k promoter regions x number of chemical species present in humans give us the number of binding affinities that describe the behavior of human cells (essentially all cell types excluding some germ-line cells, but including brain cells).
the thought experiment: apart from ethics nothing prevents humanity from going to all the remaining wild-type or near wild-type humans (when did 5% of the local population start wearing glasses? as a measure of wild-type-ness), and collecting as many individual genomes as possible, for a reference data set for the table of binding affinities. For each individual genome there is 1 table of binding affinities. Now we start averaging the value of each location in the table by averaging this table over all the collected genomes.
So theoretically we could collect the bulk of the gene regulatory information / skills encoded in the genome for wild-type humans. Next we can traverse the medical literature on autism and collect all the reported or suggested features, survey answers, diagnostic indicators for the full autism spectrum, and for each population in such a separating indicator, fetch example genomes from the purported indicated and unindicated groups, and compare their averaged binding affinity tables until you resolve or exclude any genetic correlation.
Or people downvote because I can't wait for science to ... progress?
Opened this link to quote that. The level of reasoning is "trust me bro". Even if some things must be simplified for uneducated reader, the quote from above should be embarassing for author to write
The part about being autistic for life is not really helpful. I personally know people who learned to "stop being autistic" from an outside POV, and they got to the point where they're not consciously masking anymore, it all comes natural. Just decided to act "normal" for a change and stuck with it.
Of course it's not easy, not everyone can do it (like if they also have some intellectual disability) or wants to do it, but it's the right solution for a lot of people. It's not really curing autism because it's not changing your DNA but it's definitely treating the most socially disabling symptoms.
But I think the statements all good and does what it's supposed to if it helps fight forced therapy child abuse and anti vax movements. Don't need to be perfect to make a change.
Knowing something you’ve learned to live with for life has a name and by learning that name thus recognizing your ordeal can be very helpful. Neurodiversity is real and learning that you are perhaps somewhat special (not wired like others; perhaps prone to using social tricks as a mask) can help. My personal learning of the last few years. For me the tricks and masks didn’t hurt me, but recognizing how I am and even a bit of sharing that with closest relations helped me massively.
That sounds too much like people saying 'just don't be depressed' to me.
And constantly masking (whether or not it's consciously done) is taking its toll too. Because you spend a lot of 'brainpower' second-guessing yourself.
For me it was really liberating finding people that accept me as I am so I don't have to worry all the time. And I became more successful at work when I stopped pretending to be someone I'm not.
And I definitely don't want to 'seem normal' to not attract the ire of the anti-vaxxers anti-neurodivergent crowd. They're my enemies so they deserve no such adaptation.
I feel like this is a willfully confusing article. So autism may involve disrupted genetics, but you may not have inherited those genes from your parents, they may be what are called "de novo mutations" which are mutations to the sperm or egg cells in the parent. This is evidenced by autism being more prevalent when the parents are older and those mutations are more common.
Also it clearly must be to some degree mutations if you believe the rates are going up, which even the government is no longer disputing (though that may not be conclusive proof, to me it seems evidence leans to more likely than not currently).
De novo mutations can also be caused by environmental factors, this is very well established and called "genotoxicity"[1] and certainly some people have been exposed to known genotoxic chemicals to varying degrees over time (formaldehyde) and who knows what undiscovered ones there are, newer standards of pesticide testing are starting to look for reproductive health effects but many chemicals that have been in use for a long time haven't been held to the highest standard.
Another reason you might think it would be "de novo" mutations is that this could be any sorts of random errors in the genome. If autism is an umbrella label for various genome errors (which it very well may be, since it correlates with other conditions very often), that may explain why it's so hard to pin down a few genes and why symptom expression varies so drastically.
How does any of this contradict what is written in the article?
It already mentions eg Rubella infection during pregnancy as a causative agent, which would be an example of it not being directly inherited
I wouldn't characterize it as "disrupted" genetics. Autism makes the world go round, if there were no autism we'd lack most of the innovations we take for granted today. There are other differences that can co-occur with autism to cause issues, but autism itself feels like a normal and beneficial genetic variation.
Are you one? Usually that happens because of other issues, not purely autism. If you have a motor disorder, or are unable to speak, or are unable to process language etc, that can happen whether you're also autistic or not.
Regardless, I never said autism can't be a disability or that autistic people can't be disabled or otherwise disordered compared to "normal". Just that I wouldn't treat autism itself as the one general problem.
The parents of severely autistic non verbal children needing round the clock care don't consider it "a normal and beneficial genetic variation".
> Just that I wouldn't treat autism itself as the general problem.
You wouldn't, because you've clearly got it mild.
A lot of people say they struggle in life, and that autism would explain a lot.... What about the very real possibility your simply below average? A lot of people have to be, 49% of the entire planet to be precise, so it's hardly unlikely you couldnt possibly be below average.
I never said being non-verbal or needing care around the clock was "a normal and beneficial genetic variation". I said those things would be a problem whether you also happen to be autistic or not.
> You wouldn't, because you've clearly got it mild.
This is getting into personal attacks. Back off, you don't know me.
> A lot of people say they struggle in life, and that autism would explain a lot...
This is completely different than what you were just talking about. I didn't even dispute this.
TLDR of the article is that it's yet another person confusing "heritable" with "genetic". Genes aren't the only thing we inherit from out parents - and in fact there's strong preliminary evidence that the gut microbiome plays a major role in autism.
Here's one: even if it were genetic, there could be triggering environmental factors that trigger the onset of autism (I'm just giving a hypothetical example, not making a claim here).
> Prior to the study, 83% of participants had "severe" autism. Two years later, only 17% were rated as severe, 39% as mild or moderate, and incredibly, 44% were below the cut-off for mild ASD.
Incredible! Sure, there could be a genetic component to what flourishes, or ever seeded, in one's microflora, but there's definitely some external complexities involved here.
The study that found a 47%* reduction (relative to symptoms at the start of the study) wasn't placebo controlled and had a sample size of just 18, so there's not even a control group to compare against.
> We note that due to the open-label nature of this initial trial, all of the assessments are subject to placebo effect, however the long-term improvements we observed here are promising.
Of all the misguided, abusive studies. It beggars belief that a board somehow approved this.
What happened here is simple: the autistic kids got better at masking in order to placate the researchers who were shoving poop up their butts. In the hope of making it stop.
This might have been plausible if this study came out of nowhere but there have been placebo controlled studies inducing/reversing autism-like symptoms in mice with fecal transplants and studies linking individual git microbiome metabolites to symptom severity in both animal models and humans.
Yeah the research is still preliminary but it's still pretty strong evidence that it's a research direction worth exploring.
to be honest I doubt people were masking in response to poop shoving, poop shoving is not the worst and presumably the control group just had non-poop
what seems more plausible to me would be ~<<poop helped something, something made life easier, autistic life is less obvious and disruptive to non-autistics when life is easier>>
> We note that due to the open-label nature of this initial trial, all of the assessments are subject to placebo effect, however the long-term improvements we observed here are promising.
That study measured a drop from 83% to 17% in severe autism, and one behaviour typical of severe autism is slamming one's head into the wall, among other things.
I think it's overly dismissive to summarise a drop in these behaviours as just "less obvious and disruptive to non-autistics". I can't imagine slamming your head into stuff is pleasant regardless of whether you have autism.
No, but per my earlier reply, it's one behaviour typical of severe autism, among other forms of self-harm. Pretending that broader society only wants to reduce the severity of autism symptoms for their own convenience is ignoring the very real suffering that's happening.
> Prior to the study, 83% of participants had "severe" autism. Two years later, only 17% were rated as severe, 39% as mild or moderate, and incredibly, 44% were below the cut-off for mild ASD.
It just says they behaved better, that's not recovering from severe autism at all... They didn't magically acquire language from a fecal transplant. Misleading
Environment makes certain traits visible - eg noise and smell sensory issues, even social settings. Put me in a forest and i will be indistinguishable from a neuro-prevalent - no social pressure, no noise, no smells. Actually the neuro-prevalent might be suffering for the lack of those i suppose
Schizophrenia is known to have genetic factors that can increase its likelihood, but is also linked to environmental factors like cannabis use and stress. The group without the environmental factors has a lower incidence of schizophrenia, so it's generally believed that the onset of schizophrenia is triggered by them.
Male homosexuality is believed to have a small genetic component but is also linked to birth order. One theory is that in utero testosterone from older brothers can affect the sexuality of a younger brother.
I disagree that it makes no sense for environmental factors to lead to the onset of autism, on the basis that environmental factors can make someone gay or schizophrenic. That is to say, they can influence a personality and a mind in complicated ways that don't seem intuitive.
If you have 100k people who don't smoke cannabis and 100k who do, 1000 of the non-smokers and 1400 of the smokers will have schizophrenia.
How do you detect schizophrenia in the 400 people in the non-smoker category? The answer is that you can't. They don't have schizophrenia. This is what it means for something to have an environmental trigger.
I get that you're making a point about ableism and environment, but in order to do so you're confusing two things: the onset of autism (at a very early age or even before birth and triggered by who knows what), and the occurrence of any specific symptom of autism (at any age and triggered by things we generally understand).
There are very strong reasons to suspect that gut microbiome at least plays a major role in at least a large portion of autism cases, complete with studies where we've been able to induce/reverse a subset of autism symptoms in mice, and even humans, as well as linking individual gut microbe metabolites to them. And ~80% of autistic people have gut problems.
There's no question in my mind that at least some of the propensity to develop autism is genetic, but calling the whole of it genetic feels ridiculous in the face of preliminary evidence to the contrary consistent with the massive increase in diagnosis rates beyond what can be explained by changing criteria.
Yeah, even if some people are genetically favored to get it, it doesnt mean the enviornment doesnt increase the chance it will happen, how strong it will be.
I don't like the direction some research is pushing it, like its just genetics there's nothing we can do here.
Autism looks to me similar to what a guy had when we were children. His mother was known for drinking even durring pregnancy. I'm pretty sure that we are disrupting some development mechanism today with all the substances we consume, even without knowing. Food, cosmetics, clothes, the air and so on. I think this onslaught on our bodies is what disrupts normal body functioning, in unpredictable ways. Combine that with pregnancy and the disruptions get written in "hardware". So no real cure, maybe some improvements. At government levels I think this is known, but they don't know what to do about it. Giving people a clean environment again, will have to undo most of the "progress" we got. Anyway, this is just my hunch but at individual level is better not to wait for 100% scientific confirmation.
THis is where rubber meets the road. Show me how AI can make life easier for autistic people and their caregivers , mentally challenged people and their caregiver and I will believe in the promise of AI.
AI certainly makes it easier for me with ADHD (and probably Autism too, they often go together).
It helps me do planning and research which are the boring parts of a project for me and I abhor them so I tend to procrastinate so long that the project is no longer relevant. AI helps me get through this phase much more easily.
One low hanging fruit is that it can file their taxes. Boom, that'll save a few hours and like $100 a person. After that, it's just a matter of your creativity.
Tax filing in the US being so deeply intertwined with proprietary software is extremely unfortunate. I actually emailed Richard Stallman the first time I had to file to see what he does. He basically recommended grabbing the forms as PDFs, using xournalpp to edit/sign them, then print and mail them the old-fashioned way. I did do this but I found the process clunky and upsetting. I would kill to have some official government thing that's free software and covers all the common cases, or to have it automated like in other countries. I simply should not have to do this myself, it's ridiculous. I don't care about a tax refund either, just don't make me do this at all. Maybe leave the process optional for those who want to try to game the system and get some money back.
I don't see AI as a solution here as it's all rather murky and proprietary.
It's not proprietary, they (tax companies) just want you to think that. It is very murky though, but you can fill out and file the proper forms yourself if you know what you're doing. Apparently, even the models last filing season did a great job. My uncle has been an accountant and done a lot of the family's taxes for decades. He did a parallel comparison and the llm did it perfectly. The models have improved since then as well.
Of course, if you're (imo rightly) concerned with your data, you'll have to run them locally.
We have a marvelous thing in developed countries where the IRS (equivalent) already knows how much your tax should be paying[0] and you basically have to just look at a few numbers and click "That seems right". They even have a form where you can change things that aren't correct! Marvelous, I know... we've had that for 15+ years in Denmark.
EDIT: To add, if you get it slightly wrong... you're fine, it'll be adjusted for in next year's taxes.
[0] ...because it has to, in order to investigate evasion.
It has infinite patience as a teacher in an infinitesimal number of detail oriented specific areas where others would fail. It can maintain perspective on longer term goals and repetition and such through proven autism treatment pathways like CBT/speech therapies where humans be prohibitively expensive or would tire. That's surely something? It can reinforce bringing detail out to generalities. That helps for some. I'd say pedagogy and communications therapy are therefore both clear areas of promise.
These are viable for the population as a whole, not just people with autism or identified learning difficulties.
in a better world your vision would be very promising. in our world, ill bet 'different' people are gonna get lumped in with old people, to be placated by robots instead of being allowed community engagement.
Where life does not come with an instruction manual, I've found it useful to ask AI, "hey, I got kicked out of a social group (again), what happened?", and AI is able to tell me what it is I did wrong and what to do differently next time. There is a danger of AI psychosis, and autistic people I've discussed this with have had varying levels of luck with this strategy, depending on how honest they are able to be with themselves and the machine, but AI has helped facilitate difficult conversations for me. Eg Say I want to tell someone they "fucking suck and to go kill themselves". Obviously that's not very nice. My caregivers don't deserve to be told that. AI is able to help me find the words that aren't that, while helping me figure out the words I need to communicate the underlying issue. My human therapist is only available one hour a week and doesn't come cheap. Friends only have so much patience. AI is available 24/7 and is much more affordable.
> Until recently, ideas about what causes autism have been vague, and this sense of uncertainty has allowed misinformation to escalate. ... Autism is genetic. You’re born autistic and you’re autistic for life. Most autistic people are autistic because of genes they got from their parents. This is why autism often runs in families. Much less commonly, other factors can play a role, but usually in combination with genes from parents.
Psst, words like "most", "often", and "usually" aren't helping your "vague" problem.
It's an evolutionary trait that is in response to increasing use of electronics and computers. As being good with technology is a larger part of survival of the fittest, the autism traits will only increase along with it.
Basically, environmental harm during pregnancy via plasticizer phthalates leads to epigenetic dysregulation which develops the brain defectively. This is distinctly not genetic.
Apart from when uta frith, a major player in including Asperger's into autism, says people are being over diagnosed.... then screw the science, what do they know?
If you read the article it says they don’t know what genes influences autism. That means they don’t know. They established correlation but not causation. Could be the causative factor is environmental and genes simply makes a person more vulnerable to that causative factor.
I would encourage anyone interested in autism to take a look at this paper, "Decomposition of phenotypic heterogeneity in autism reveals underlying genetic programs": https://www.nature.com/articles/s41588-025-02224-z
Essentially, there are four types of autism! I think they deserve to be known more individually rather than having only one "autistic spectrum". Ever since seeing the preprint I've practiced telling the different types apart, it's been very interesting.
I lived in New York 2004 to 2009. 2006 I think there was this epidemic in cases when I say everyone had kids who were autistic I am not even exagerating. I was one. Was like a movie I dont think I could exagerate what happened it was everywhere all at once. It was vaccines everyine knew it everyone still does. These people are liars. They were then they still are dont believe them.
These people are not liars. It’s anti-vax conspiracies that willfully mislead people and for what? The scientist who claimed a link between autism and vaccine was a fraud who misrepresented research data. Why do intelligent people perpetuate conspiracy theories?
> Autism is genetic. You’re born autistic and you’re autistic for life. Most autistic people are autistic because of genes they got from their parents. This is why autism often runs in families. Much less commonly, other factors can play a role, but usually in combination with genes from parents. There isn’t a single ‘autism gene’. Thousands of genes combine to make a person autistic. Scientists have identified many of these genes, but they think there are still many more to find. And there is no genetic test for autism. We don't fully understand how genes combine to make a person autistic. It is complex and no simple test can give an accurate answer. Genetic testing cannot predict whether a child will be autistic or not, and it can’t be used to diagnose someone as autistic.
Autism is genetic but we cannot do genetic testing and prove that you have autism. Seems like a very circular reasoning.
Genetics is complicated enough that both things can be true without circular reasoning.
I've studied genotype to phenotype mechanisms for a very long time (but from the lens of molecular biology, biochemistry, and biophysics, rather than genetics). The language of genetics- especially in the popular press- is extremely loose and ambiguous, and people trying to understand the genetics of autism using the popular press (or even 8th grade biology genetics) are going to be very confused.
Basically in medicine and biology in general it's best to be flexible- avoid using logical reasoning, instead adopt probabilistic mindset, and assume that the entities you're reasoning about are extremely complex and you only have a small amount of noisy, partial information that is in a highly encoded feature space. You can often measure relationships or statistical linkages that appear significant (even after multiple test correction) but rarely discern the true causal relationship between the feature vector (genome) and the outcome (autism).
One of the biggest surprises in modern genetics is that many phenotypes are determined by the sum of effects of many gene products, including many complex interactions between those gene products. Some phenotypes are linked to 1000+ genes, and there are "only" ~25K genes in the human genome. The whole thing is just crazy and our ability to test for complex phenotypes continues to be very limited.
It seems only natural for nature to have it like this. It’d be hard for evolution to optimize things if the genotype to phenotype mapping was sharp, with phase transitions and such
Indeed. Thanks for the great explanation. Honestly, the complexity would be very annoying if it wasn’t also invigorating and fascinating.
The interconnections between genes has led to proposals of “omnigenic” models, the idea that all genes expressed in a cell affect every given trait of the cell, to some extent.
When it comes to something like autism, it’s a word covering a vast number of traits and behaviors of many different cells that gives rise to that set of effects as seen from outside.
And the issue with genetic testing is, we often only look at specific regions of the genome. Even when we do whole genome tests, and compare whole genomes of autistic folks, what we find is no single origin but many overlapping patterns. No definitive set is found because we are looking at complex processes that have many nodes where mutations can mildly tweak the function. Many such functionally relevant mutations can chain together to give you the signatures of autism, and no two are the same.
All these reasons also point to why we are increasingly realizing autism isn’t a “disease” with a “cure”. It’s a way in which people can be people. It’s time society accepted that and expands itself to accommodate.
How do geneticists go about identifying alleles associated with autism? Seems like the effect size would be very small for most of them, and given the relatively small sample population of humans that can be practically sequenced for this, it seems difficult to separate true signal from statistical noise.
Also is it actually just “a sum of cumulative effects of these alleles crossing a threshold causes autism” or more complex like “Allele A and B together has a very significant effect, A and C has a moderate effect but A, B, and C together is has no effect”
What's an allele? There is no real answer to that question. Or rather, the concept of allele is highly abstract and does not correspond well to actual genomic sequences.
Predicting phenotypes is not a linear function of the genome. It's a highly nonlinear function, affected by complex generative processes, feedback control, homeostasis, and many other active control mechanisms. With that said, you could come up with a proxy score that was a function of the genome and had predictive value for autism (ideally better than binary, with a description of the predicted autistic traits somebody showed).
Biology is the only field I've worked in where both "necessary but not sufficient" and "sufficient but not necessary" can both be the case at the same time.
I understand that they found strong enough evidence that it's a genetic condition, but at the same time it's not one single gene, it's a combination of many that combine to create the full spectrum, hence no easy genetic test. They'll get there in time as technology and research evolve. I don't see any circular reasoning.
EDIT: they have a FAQ about it: https://www.autism.org.uk/advice-and-guidance/about-autism/w...
Height has a strong genetic component, but there's no test for height.
There are ways to predict a child’s height as an adult that are very accurate.
Most countries track growth curves, and ask parents about what their height is to correlate data with. One can also use bone age assessment.
But can you do it only having their DNA?
Lemme try again: My LLM hallucinates paper citations. I have a strong suspicion that this results from the parameter regime. Is there a test for paper citation hallucination?
The comment you're replying to isn't talking about predictions now, isnt it?
A meter?
If your C code causes a segfault, is it fair to reason that there's a memory management error in the code? Does that make it practical to find where, so that you can just add a check for it?
There are two fallacies in your analogy.
Segfaults are precise symptoms - they occur only when there's a memory issue. Autism isn't precise, is a collection of characteristics that manifest differently in each person.
Genetic is, for the purpose of this conversation, a precise diagnosis - means you carry parent genes that will cause the issue. Memory management isn't: what caused it? Code error? OS error? Processor? Is it a bad code path or a unexpected exrtenal state?
Finally, an analogy of your analogy: you measure someone temperature and it's 40C. You diagnose a fever.
Segfaults are fever, just a symptom.
The analogy is "just because most X are caused by Y, doesn't mean you can easily test for X by looking at Y"
I don't think your first point (how specific/precise are the symptoms of X) changes things, and I think your second point reinforces the analogy rather than weakens it. Most segfaults are coding errors and not OS or hardware errors ("look for horses, not zebras" / "SELECT isn't broken"). Even good medical tests have false positives and false negatives
> Most autistic people are autistic because of genes they got from their parents. This is why autism often runs in families. Much less commonly, other factors can play a role, but usually in combination with genes from parents.
Are we still talking about testing for autism?
I should have known better than to try an analogy here
What if it only happens on a single machine?
Memory defaults can also cause segfaults.
what if segfaults only occurred when the errant path was executed in manners not initially designed for? or alternately, if that code path never got touched, would we ever have known about the segfault? should we keep focusing on segfaults or look at the ways that programs are being operated out of scope?
[dead]
That seems like a pointedly naive viewpoint. You can have clearly predictive population level statistics about prevalence in family groups without clearly understanding the (very messy and unbelievably complicated) way that genetics shapes brain development.
Some of what you've quoted highlights my own belief on some of this:
Autism is also multiple things.
That may provide some insight about how there is not a "single `autism gene'" and how they hedged a bunch of these statements with "most" or "usually".
Maybe some day when we as a species understand brains better, some people will get a more precise label than "on the autism spectrum".
> Autism is also multiple things.
This rings true to me. As someone with an autistic loved one, I obviously think about it a lot.
If it were as simple as there being some simple genetic basis that gives you a single thing called autism, I would expect it, honestly, to have naturally died out long ago, just because it makes so many things harder for people that it cannot possibly have not had a disadvantage to reproduction.
I would expect it's not caused by genes themselves, but by control DNA. That's where a lot of the subtle structural stuff happens. But that's also hard to test for. It's like how you can't test how tall someone is going to be.
I've also read ages ago in Scientific American that the difference between our brains and chimp brains is almost entirely in control DNA, not in genes. It matters a lot, but is often overlooked. (It used to be called "junk DNA", before people realised how important it was.)
can't wait until large scale datasets and LLM powered studies either debunk or confirm and quantify the effects objectively.
not sure why the downvotes?
I predict it would be possible to quantify the effects objectively, as a thought experiment: assuming functional proteins, gene regulation is about binding affinities of cellullar chemical species to promoter regions, so 200k promoter regions x number of chemical species present in humans give us the number of binding affinities that describe the behavior of human cells (essentially all cell types excluding some germ-line cells, but including brain cells).
the thought experiment: apart from ethics nothing prevents humanity from going to all the remaining wild-type or near wild-type humans (when did 5% of the local population start wearing glasses? as a measure of wild-type-ness), and collecting as many individual genomes as possible, for a reference data set for the table of binding affinities. For each individual genome there is 1 table of binding affinities. Now we start averaging the value of each location in the table by averaging this table over all the collected genomes.
So theoretically we could collect the bulk of the gene regulatory information / skills encoded in the genome for wild-type humans. Next we can traverse the medical literature on autism and collect all the reported or suggested features, survey answers, diagnostic indicators for the full autism spectrum, and for each population in such a separating indicator, fetch example genomes from the purported indicated and unindicated groups, and compare their averaged binding affinity tables until you resolve or exclude any genetic correlation.
Or people downvote because I can't wait for science to ... progress?
My understanding is that having certain genes makes conditions like Autism more probabilistic than deterministic.
Opened this link to quote that. The level of reasoning is "trust me bro". Even if some things must be simplified for uneducated reader, the quote from above should be embarassing for author to write
The part about being autistic for life is not really helpful. I personally know people who learned to "stop being autistic" from an outside POV, and they got to the point where they're not consciously masking anymore, it all comes natural. Just decided to act "normal" for a change and stuck with it.
Of course it's not easy, not everyone can do it (like if they also have some intellectual disability) or wants to do it, but it's the right solution for a lot of people. It's not really curing autism because it's not changing your DNA but it's definitely treating the most socially disabling symptoms.
But I think the statements all good and does what it's supposed to if it helps fight forced therapy child abuse and anti vax movements. Don't need to be perfect to make a change.
Knowing something you’ve learned to live with for life has a name and by learning that name thus recognizing your ordeal can be very helpful. Neurodiversity is real and learning that you are perhaps somewhat special (not wired like others; perhaps prone to using social tricks as a mask) can help. My personal learning of the last few years. For me the tricks and masks didn’t hurt me, but recognizing how I am and even a bit of sharing that with closest relations helped me massively.
> Knowing something you’ve learned to live with for life
What have you been living with for life?
Unconsciously masking is still tiring, and masking doesn't generalise well to unfamiliar situations.
That sounds too much like people saying 'just don't be depressed' to me.
And constantly masking (whether or not it's consciously done) is taking its toll too. Because you spend a lot of 'brainpower' second-guessing yourself.
For me it was really liberating finding people that accept me as I am so I don't have to worry all the time. And I became more successful at work when I stopped pretending to be someone I'm not.
And I definitely don't want to 'seem normal' to not attract the ire of the anti-vaxxers anti-neurodivergent crowd. They're my enemies so they deserve no such adaptation.
They are still autistic.
> who learned to "stop being autistic" from an outside POV
Sorry but what exactly does this mean?
It means they are masking.
Maybe they changed. The inability to change shouldn't be taken as gospel.
I feel like this is a willfully confusing article. So autism may involve disrupted genetics, but you may not have inherited those genes from your parents, they may be what are called "de novo mutations" which are mutations to the sperm or egg cells in the parent. This is evidenced by autism being more prevalent when the parents are older and those mutations are more common.
Also it clearly must be to some degree mutations if you believe the rates are going up, which even the government is no longer disputing (though that may not be conclusive proof, to me it seems evidence leans to more likely than not currently).
De novo mutations can also be caused by environmental factors, this is very well established and called "genotoxicity"[1] and certainly some people have been exposed to known genotoxic chemicals to varying degrees over time (formaldehyde) and who knows what undiscovered ones there are, newer standards of pesticide testing are starting to look for reproductive health effects but many chemicals that have been in use for a long time haven't been held to the highest standard.
Another reason you might think it would be "de novo" mutations is that this could be any sorts of random errors in the genome. If autism is an umbrella label for various genome errors (which it very well may be, since it correlates with other conditions very often), that may explain why it's so hard to pin down a few genes and why symptom expression varies so drastically.
1. https://en.wikipedia.org/wiki/Genotoxicity
How does any of this contradict what is written in the article? It already mentions eg Rubella infection during pregnancy as a causative agent, which would be an example of it not being directly inherited
I am pretty sure neuro prevalent type is the disruptive one
I wouldn't characterize it as "disrupted" genetics. Autism makes the world go round, if there were no autism we'd lack most of the innovations we take for granted today. There are other differences that can co-occur with autism to cause issues, but autism itself feels like a normal and beneficial genetic variation.
Have you ever spoke to parents who need to give their severely autistic child 24h care for the rest of their lives?
Are you one? Usually that happens because of other issues, not purely autism. If you have a motor disorder, or are unable to speak, or are unable to process language etc, that can happen whether you're also autistic or not.
Regardless, I never said autism can't be a disability or that autistic people can't be disabled or otherwise disordered compared to "normal". Just that I wouldn't treat autism itself as the one general problem.
The parents of severely autistic non verbal children needing round the clock care don't consider it "a normal and beneficial genetic variation".
> Just that I wouldn't treat autism itself as the general problem.
You wouldn't, because you've clearly got it mild.
A lot of people say they struggle in life, and that autism would explain a lot.... What about the very real possibility your simply below average? A lot of people have to be, 49% of the entire planet to be precise, so it's hardly unlikely you couldnt possibly be below average.
I never said being non-verbal or needing care around the clock was "a normal and beneficial genetic variation". I said those things would be a problem whether you also happen to be autistic or not.
> You wouldn't, because you've clearly got it mild.
This is getting into personal attacks. Back off, you don't know me.
> A lot of people say they struggle in life, and that autism would explain a lot...
This is completely different than what you were just talking about. I didn't even dispute this.
Citation needed. Frankly, it sounds like a bullshit claim.
In any case it feels like "disrupted" is the claim that needs citations. It's possible to study autism without treating it as inferior.
TLDR of the article is that it's yet another person confusing "heritable" with "genetic". Genes aren't the only thing we inherit from out parents - and in fact there's strong preliminary evidence that the gut microbiome plays a major role in autism.
So many misconceptions in this writeup.
Here's one: even if it were genetic, there could be triggering environmental factors that trigger the onset of autism (I'm just giving a hypothetical example, not making a claim here).
For example, 45% reduction in symptoms from fecal transplant: https://news.ycombinator.com/item?id=48158494
> Prior to the study, 83% of participants had "severe" autism. Two years later, only 17% were rated as severe, 39% as mild or moderate, and incredibly, 44% were below the cut-off for mild ASD.
Incredible! Sure, there could be a genetic component to what flourishes, or ever seeded, in one's microflora, but there's definitely some external complexities involved here.
The study that found a 47%* reduction (relative to symptoms at the start of the study) wasn't placebo controlled and had a sample size of just 18, so there's not even a control group to compare against.
> We note that due to the open-label nature of this initial trial, all of the assessments are subject to placebo effect, however the long-term improvements we observed here are promising.
https://www.nature.com/articles/s41598-019-42183-0#Sec2
Then, I suppose you could argue there's a possible, statistically significant, genetic component for efficacy of placebo, in autistic people. ;)
Of all the misguided, abusive studies. It beggars belief that a board somehow approved this.
What happened here is simple: the autistic kids got better at masking in order to placate the researchers who were shoving poop up their butts. In the hope of making it stop.
This might have been plausible if this study came out of nowhere but there have been placebo controlled studies inducing/reversing autism-like symptoms in mice with fecal transplants and studies linking individual git microbiome metabolites to symptom severity in both animal models and humans.
Yeah the research is still preliminary but it's still pretty strong evidence that it's a research direction worth exploring.
Why doesn't it cure any actual symptoms like not being able to communicate though? The symptoms quote/unquote are behaviour
to be honest I doubt people were masking in response to poop shoving, poop shoving is not the worst and presumably the control group just had non-poop
what seems more plausible to me would be ~<<poop helped something, something made life easier, autistic life is less obvious and disruptive to non-autistics when life is easier>>
There was no control group.
> We note that due to the open-label nature of this initial trial, all of the assessments are subject to placebo effect, however the long-term improvements we observed here are promising.
That study measured a drop from 83% to 17% in severe autism, and one behaviour typical of severe autism is slamming one's head into the wall, among other things.
I think it's overly dismissive to summarise a drop in these behaviours as just "less obvious and disruptive to non-autistics". I can't imagine slamming your head into stuff is pleasant regardless of whether you have autism.
That's also not the definition for severe autism, "banging head on wall"
No, but per my earlier reply, it's one behaviour typical of severe autism, among other forms of self-harm. Pretending that broader society only wants to reduce the severity of autism symptoms for their own convenience is ignoring the very real suffering that's happening.
> Prior to the study, 83% of participants had "severe" autism. Two years later, only 17% were rated as severe, 39% as mild or moderate, and incredibly, 44% were below the cut-off for mild ASD.
It just says they behaved better, that's not recovering from severe autism at all... They didn't magically acquire language from a fecal transplant. Misleading
Not onset, that makes no sense.
Environment makes certain traits visible - eg noise and smell sensory issues, even social settings. Put me in a forest and i will be indistinguishable from a neuro-prevalent - no social pressure, no noise, no smells. Actually the neuro-prevalent might be suffering for the lack of those i suppose
Schizophrenia is known to have genetic factors that can increase its likelihood, but is also linked to environmental factors like cannabis use and stress. The group without the environmental factors has a lower incidence of schizophrenia, so it's generally believed that the onset of schizophrenia is triggered by them.
Male homosexuality is believed to have a small genetic component but is also linked to birth order. One theory is that in utero testosterone from older brothers can affect the sexuality of a younger brother.
I disagree that it makes no sense for environmental factors to lead to the onset of autism, on the basis that environmental factors can make someone gay or schizophrenic. That is to say, they can influence a personality and a mind in complicated ways that don't seem intuitive.
Well how do you detect autism if it’s traits never show?
It’s a bit loke saying fish don’t develop aquism unless they are facing non-acquatic environment. Kinda crude comparison but you get then idea.
If you have 100k people who don't smoke cannabis and 100k who do, 1000 of the non-smokers and 1400 of the smokers will have schizophrenia.
How do you detect schizophrenia in the 400 people in the non-smoker category? The answer is that you can't. They don't have schizophrenia. This is what it means for something to have an environmental trigger.
I get that you're making a point about ableism and environment, but in order to do so you're confusing two things: the onset of autism (at a very early age or even before birth and triggered by who knows what), and the occurrence of any specific symptom of autism (at any age and triggered by things we generally understand).
The writeup is a summary of having done a meta analysis of actual research. It also covers environmental factors already
Wouldn’t susceptibility to those environmental factors be dictated by your genetics?
They specifically said there are environmental factors, and not all of them are known. A few are known though: older parents for example.
Heritable != genetic.
There are very strong reasons to suspect that gut microbiome at least plays a major role in at least a large portion of autism cases, complete with studies where we've been able to induce/reverse a subset of autism symptoms in mice, and even humans, as well as linking individual gut microbe metabolites to them. And ~80% of autistic people have gut problems.
There's no question in my mind that at least some of the propensity to develop autism is genetic, but calling the whole of it genetic feels ridiculous in the face of preliminary evidence to the contrary consistent with the massive increase in diagnosis rates beyond what can be explained by changing criteria.
Yeah, even if some people are genetically favored to get it, it doesnt mean the enviornment doesnt increase the chance it will happen, how strong it will be.
I don't like the direction some research is pushing it, like its just genetics there's nothing we can do here.
Even if it is genetic, do we know what causes truly original cases ? What causes the first genetic case, over and over?
You gotta provide some sources for your Twitter bro science take.
"They think" autism is genetic and that would be fine as a title, but they have not proven it is (only or even mostly) genetic
> We don't fully understand how genes combine to make a person autistic.
Autism looks to me similar to what a guy had when we were children. His mother was known for drinking even durring pregnancy. I'm pretty sure that we are disrupting some development mechanism today with all the substances we consume, even without knowing. Food, cosmetics, clothes, the air and so on. I think this onslaught on our bodies is what disrupts normal body functioning, in unpredictable ways. Combine that with pregnancy and the disruptions get written in "hardware". So no real cure, maybe some improvements. At government levels I think this is known, but they don't know what to do about it. Giving people a clean environment again, will have to undo most of the "progress" we got. Anyway, this is just my hunch but at individual level is better not to wait for 100% scientific confirmation.
THis is where rubber meets the road. Show me how AI can make life easier for autistic people and their caregivers , mentally challenged people and their caregiver and I will believe in the promise of AI.
AI certainly makes it easier for me with ADHD (and probably Autism too, they often go together).
It helps me do planning and research which are the boring parts of a project for me and I abhor them so I tend to procrastinate so long that the project is no longer relevant. AI helps me get through this phase much more easily.
I cannot see why this litmus test is either necessary nor sufficient for evaluating the success of LLMs.
One low hanging fruit is that it can file their taxes. Boom, that'll save a few hours and like $100 a person. After that, it's just a matter of your creativity.
Tax filing in the US being so deeply intertwined with proprietary software is extremely unfortunate. I actually emailed Richard Stallman the first time I had to file to see what he does. He basically recommended grabbing the forms as PDFs, using xournalpp to edit/sign them, then print and mail them the old-fashioned way. I did do this but I found the process clunky and upsetting. I would kill to have some official government thing that's free software and covers all the common cases, or to have it automated like in other countries. I simply should not have to do this myself, it's ridiculous. I don't care about a tax refund either, just don't make me do this at all. Maybe leave the process optional for those who want to try to game the system and get some money back.
I don't see AI as a solution here as it's all rather murky and proprietary.
It's not proprietary, they (tax companies) just want you to think that. It is very murky though, but you can fill out and file the proper forms yourself if you know what you're doing. Apparently, even the models last filing season did a great job. My uncle has been an accountant and done a lot of the family's taxes for decades. He did a parallel comparison and the llm did it perfectly. The models have improved since then as well.
Of course, if you're (imo rightly) concerned with your data, you'll have to run them locally.
We have a marvelous thing in developed countries where the IRS (equivalent) already knows how much your tax should be paying[0] and you basically have to just look at a few numbers and click "That seems right". They even have a form where you can change things that aren't correct! Marvelous, I know... we've had that for 15+ years in Denmark.
EDIT: To add, if you get it slightly wrong... you're fine, it'll be adjusted for in next year's taxes.
[0] ...because it has to, in order to investigate evasion.
You're just one step away from all the money just going straight to the government, then they decide how much goes back to you ;)
I'm not sure I get your point. Can you elaborate?
It has infinite patience as a teacher in an infinitesimal number of detail oriented specific areas where others would fail. It can maintain perspective on longer term goals and repetition and such through proven autism treatment pathways like CBT/speech therapies where humans be prohibitively expensive or would tire. That's surely something? It can reinforce bringing detail out to generalities. That helps for some. I'd say pedagogy and communications therapy are therefore both clear areas of promise.
These are viable for the population as a whole, not just people with autism or identified learning difficulties.
in a better world your vision would be very promising. in our world, ill bet 'different' people are gonna get lumped in with old people, to be placated by robots instead of being allowed community engagement.
Don't blame others. Inaction is the only thing between you and a better world. Go do something about it.
Dismantle car centrism all by yourself?
> make life easier for autistic people
Where life does not come with an instruction manual, I've found it useful to ask AI, "hey, I got kicked out of a social group (again), what happened?", and AI is able to tell me what it is I did wrong and what to do differently next time. There is a danger of AI psychosis, and autistic people I've discussed this with have had varying levels of luck with this strategy, depending on how honest they are able to be with themselves and the machine, but AI has helped facilitate difficult conversations for me. Eg Say I want to tell someone they "fucking suck and to go kill themselves". Obviously that's not very nice. My caregivers don't deserve to be told that. AI is able to help me find the words that aren't that, while helping me figure out the words I need to communicate the underlying issue. My human therapist is only available one hour a week and doesn't come cheap. Friends only have so much patience. AI is available 24/7 and is much more affordable.
It's able to tell you something that sounds right. That doesn't mean it is right.
The neurodivergent community thoroughly and resoundingly rejects AI and for damn good reason.
I'm neurodivergent, you do not speak for me.
That's cool, but what about the actual neurodivergent people?
I'm neurodivergent (got all the proper stamps and papers and everything) and I think it's very useful in the right places
I think Claude is not autistic enough
[flagged]
> Until recently, ideas about what causes autism have been vague, and this sense of uncertainty has allowed misinformation to escalate. ... Autism is genetic. You’re born autistic and you’re autistic for life. Most autistic people are autistic because of genes they got from their parents. This is why autism often runs in families. Much less commonly, other factors can play a role, but usually in combination with genes from parents.
Psst, words like "most", "often", and "usually" aren't helping your "vague" problem.
It's an evolutionary trait that is in response to increasing use of electronics and computers. As being good with technology is a larger part of survival of the fittest, the autism traits will only increase along with it.
It's advantageous in rules-based systems, but many aspects of life, particularly interpersonal, are not rules-based.
Systems thinking pays well, which is advantageous, but this might be short lived, now that LLMs can mediate interfacing with rules-based systems.
The article is shamelessly false and misleading.
If you want the truth, here is the science:
Plasticizer exposure during pregnancy linked to increased autism- and ADHD-related symptoms in children (2026)
https://medicalxpress.com/news/2026-09-plasticizer-exposure-...
https://dx.doi.org/10.1016/j.medj.2026.101291
https://youtu.be/j4Tz86TENvs
Basically, environmental harm during pregnancy via plasticizer phthalates leads to epigenetic dysregulation which develops the brain defectively. This is distinctly not genetic.
Trust the science! :D
Apart from when uta frith, a major player in including Asperger's into autism, says people are being over diagnosed.... then screw the science, what do they know?
If you read the article it says they don’t know what genes influences autism. That means they don’t know. They established correlation but not causation. Could be the causative factor is environmental and genes simply makes a person more vulnerable to that causative factor.
I would encourage anyone interested in autism to take a look at this paper, "Decomposition of phenotypic heterogeneity in autism reveals underlying genetic programs": https://www.nature.com/articles/s41588-025-02224-z
It's, I believe, the peer-reviewed version of this preprint from a couple years ago, "Decomposition of phenotypic heterogeneity in autism reveals distinct and coherent genetic programs": https://www.medrxiv.org/content/10.1101/2024.08.15.24312078v...
Essentially, there are four types of autism! I think they deserve to be known more individually rather than having only one "autistic spectrum". Ever since seeing the preprint I've practiced telling the different types apart, it's been very interesting.
Headline is obviously AI slop
I lived in New York 2004 to 2009. 2006 I think there was this epidemic in cases when I say everyone had kids who were autistic I am not even exagerating. I was one. Was like a movie I dont think I could exagerate what happened it was everywhere all at once. It was vaccines everyine knew it everyone still does. These people are liars. They were then they still are dont believe them.
These people are not liars. It’s anti-vax conspiracies that willfully mislead people and for what? The scientist who claimed a link between autism and vaccine was a fraud who misrepresented research data. Why do intelligent people perpetuate conspiracy theories?
[dead]
[dead]
[dead]
[flagged]
[flagged]
You’re being weird.
Seems I might have triggered theirs too. Maybe better refrain from touching grass too much.