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Autism is genetic – and why this information matters now

49 pointsby 10h agoautism.org.uk
32 comments
3h agoHN ↗

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.

3h agoHN ↗

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.

2h agoHN ↗

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.

2h agoHN ↗

The neurodivergent community thoroughly and resoundingly rejects AI and for damn good reason.

2h agoHN ↗

That's cool, but what about the actual neurodivergent people?

2h agoHN ↗

I'm neurodivergent, you do not speak for me.

2h agoHN ↗

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.

2h agoHN ↗

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.

3h agoHN ↗

I think Claude is not autistic enough

3h agoHN ↗

You may be insufficiently autistic to recognize Claude’s power level.

3h agoHN ↗

What kind of vibeslop title is that, it's triggering my 'tism.

3h agoHN ↗

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.

3h agoHN ↗

can't wait until large scale datasets and LLM powered studies either debunk or confirm and quantify the effects objectively.

9m agoHN ↗

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?

3h agoHN ↗

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.)

3h agoHN ↗

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...

3h agoHN ↗

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?

2h agoHN ↗

What if it only happens on a single machine?

Memory defaults can also cause segfaults.

2h agoHN ↗

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?

1h agoHN ↗

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.

3h agoHN ↗

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".

2h agoHN ↗

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.

2h agoHN ↗

My understanding is that having certain genes makes conditions like Autism more probabilistic than deterministic.

1h agoHN ↗

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.

47m agoHN ↗

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

2h agoHN ↗

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).

2h agoHN ↗

They specifically said there are environmental factors, and not all of them are known. A few are known though: older parents for example.

2h agoHN ↗

Wouldn’t susceptibility to those environmental factors be dictated by your genetics?

52m agoHN ↗

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.

2h agoHN ↗

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

2h agoHN ↗

"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.

54m agoHN ↗

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.