4 ms·

> 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

by mlboss 10d ago

> 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.

DoctorOetker 10d ago
can't wait until large scale datasets and LLM powered studies either debunk or confirm and quantify the effects objectively.
- DoctorOetker 10d ago
  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?
mcv 10d ago
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.)
plqbfbv 10d ago
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/what-causes-autism https://www.autism.org.uk/advice-and-guidance/about-autism/w...
anonymars 10d ago
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?
- aaron695 10d ago
  [dead]
- lazide 10d ago
  What if it only happens on a single machine? Memory defaults can also cause segfaults.
  - deleted 10d ago
    [deleted]
- thin_carapace 10d ago
  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?
  - deleted 9d ago
    [deleted]
- HeavyStorm 10d ago
  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.
asveikau 10d ago
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".
- xp84 10d ago
  > 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.
hirvi74 10d ago
My understanding is that having certain genes makes conditions like Autism more probabilistic than deterministic.
deleted 10d ago
[deleted]
dekhn 10d ago
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.
- randomImmigrant 10d ago
  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.
galkk 10d ago
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
jvwong 10d ago
Height has a strong genetic component, but there's no test for height.
- znpy 10d ago
  A meter?
- amszmidt 10d ago
  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.
  - dns_snek 10d ago
    But can you do it only having their DNA?
    - jvwong 9d ago
      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?
      - dns_snek 8d ago
        I think we agree and you replied to the wrong comment here. 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.
  - 7bit 9d ago
    The comment you're replying to isn't talking about predictions now, isnt it?
FuckButtons 10d ago
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.

by mlboss 10d ago

DoctorOetker 10d ago

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

DoctorOetker 10d ago
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?

mcv 10d ago

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.)

plqbfbv 10d ago

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/what-causes-autism https://www.autism.org.uk/advice-and-guidance/about-autism/w...

anonymars 10d ago

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?

aaron695 10d ago
[dead]
lazide 10d ago
What if it only happens on a single machine? Memory defaults can also cause segfaults.
- deleted 10d ago
  [deleted]
thin_carapace 10d ago
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?
- deleted 9d ago
  [deleted]
HeavyStorm 10d ago
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.

asveikau 10d ago

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".

xp84 10d ago
> 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.

hirvi74 10d ago

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

deleted 10d ago

[deleted]

dekhn 10d ago

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.

randomImmigrant 10d ago
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.

galkk 10d ago

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

jvwong 10d ago

Height has a strong genetic component, but there's no test for height.

znpy 10d ago
A meter?
amszmidt 10d ago
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.
- dns_snek 10d ago
  But can you do it only having their DNA?
  - jvwong 9d ago
    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?
    - dns_snek 8d ago
      I think we agree and you replied to the wrong comment here. 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.
- 7bit 9d ago
  The comment you're replying to isn't talking about predictions now, isnt it?

FuckButtons 10d ago

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.