Autism is genetic – and why this information matters now(autism.org.uk) |
Autism is genetic – and why this information matters now(autism.org.uk) |
Autism is genetic but we cannot do genetic testing and prove that you have autism. Seems like a very 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.
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.
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”
EDIT: they have a FAQ about it: https://www.autism.org.uk/advice-and-guidance/about-autism/w...
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.
Memory defaults can also cause segfaults.
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'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?
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.
What have you been living with for life?
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.
Sorry but what exactly does this mean?
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.
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).
> We don't fully understand how genes combine to make a person autistic.
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.
I don't like the direction some research is pushing it, like its just genetics there's nothing we can do here.
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.
Systems thinking pays well, which is advantageous, but this might be short lived, now that LLMs can mediate interfacing with rules-based systems.
Psst, words like "most", "often", and "usually" aren't helping your "vague" problem.
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
Basically, environmental harm during pregnancy via plasticizer phthalates leads to epigenetic dysregulation which develops the brain defectively. This is distinctly not genetic.
> 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.
> 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.
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
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.
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
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.
These are viable for the population as a whole, not just people with autism or identified learning difficulties.
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.
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.
I don't see AI as a solution here as it's all rather murky and proprietary.
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.
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.
In general terms my inside pretty much knew that I was neurotypical on quite a few dimensions, but I kept on trying to fit in a normal frame for 40+ years. Accepting these dimensions for what they are (roll the D100) and sharing them to a different degrees in different circumstances (private, social, work) helps me a lot. Turns out friends know you better than you think and that talking about things leads to mutual understanding! While I was long ashamed of being different (to a degree).
An example … I am more “German” than a German. Show me a rule and it ‘fuses’ into my brain. So things like rules and fairness are not for me as they are to most people. This, so I am told, is pretty typical for some people, while most people will literally roll their eyes when I reason mathematically from rules. I think rolling your eyes is not polite and not taking the substance seriously and you can understand how it might go from there. This is also highly hereditary behavior.
Of course, if you're (imo rightly) concerned with your data, you'll have to run them locally.
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.
i.e. You can look at family history and determine that autism runs in families, and by controlling for environmental factors you can conclude that it's very likely to be genetic, yet you still don't have a genetic test for it.
Which is very different from measuring parents' heights and predicting the height of their child. Similarly you could look at 2 autistic adults and conclude that their child would almost certainly be autistic too.
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.
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).
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.
> 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.
> 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.
Yeah the research is still preliminary but it's still pretty strong evidence that it's a research direction worth exploring.
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.
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.
This is poor quality evidence of anything.