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autism researcher here. I have not yet read this study. It will not be the kind of paper that many, including myself, can read quickly and understand. Autism is
by SubiculumCode 1mo ago
autism researcher here. I have not yet read this study. It will not be the kind of paper that many, including myself, can read quickly and understand. Autism is a multi-disciplined science, so there is a lot to understand. However, my initial sense from reading the abstract is that this paper might be a really really big deal and incredible new resource.
General problem statement: Many different genetic variants are associated with autism, some strongly, most very weakly. Many have suspected that this plethora of genetic variants might converge onto a smaller set of biological pathways affecting neurodevelopment in ways that results in an autism phenotype or phenotypes. This has been our hope, because the alternative scares the hell out of a scientist. The saying goes that if you met one person with autism, you've met one person with autism...meaning there is a ton of heterogeneity within the autism spectrum, even if a certain set of core autism symptoms are displayed. So there was a existential crisis that there is no "autism", just a billion autisms, where your sample size is always N=1. By demonstrating evidence that many variants converge on the same biological pathways, there is hope that understanding autism is tractable.
- gignico 1mo agoI thought the US government had just decided that the cause of autism was vaccines </sarcasm>
- emptybits 1mo agoNo need for your </sarcasm> tag. The United States makes repeated claims linking childhood vaccines to autism. https://www.factcheck.org/2026/08/trump-and-rfk-jr-repeat-false-and-misleading-vaccine-claims/ https://www.factcheck.org/2026/08/trump-and-rfk-jr-repeat-fa...
- maddie0 1mo agoCome now! It is clear that the sarcasm indicator wasn't suggesting that the government didn't really announce that. The sarcasm was in the invocation of governmental authority, which is thereby implied to be ill-founded and not worth listening to.
- SubiculumCode 1mo agono sarcasm tags needed unfortunately, and we autism scientists are very worried/ For example, as I submitted a few days ago: https://news.ycombinator.com/item?id=49422954 https://news.ycombinator.com/item?id=49422954
- piperswe 29d agoHave we gone back to vaccines after announcing Tylenol as the cause?
- roughly 1mo agoOut of curiosity, what leads us to treat ASD as an actual single disorder, as opposed to a billion different individual neurological profiles? I'd expect one of the things that makes this difficult, too, is that there's a missing component of the "machine" - the genetics affect the pathways, which affect (maybe?) things like signal propagation or network regulation in the brain, but the actual effect of that is on the patient's experience of consciousness, and it's difficult for someone to get more than N=1 of those via commonly accepted legal methods - otherwise, we're all just looking at the outside of the box and saying "huh, this box acts differently than that box, weird."
- Alex3917 1mo ago> what leads us to treat ASD as an actual single disorder, as opposed to a billion different individual neurological profiles? We already do treat it as the latter. The medical definition of autism is basically just any neurodevelopmental disorder that isn’t ADHD.
- reubn 1mo agoWhat a ridiculous take.
- kulahan 1mo ago"Why don't we treat it as many disorders instead of just calling everything autism?" "we do, autism is everything that isn't ADHD" ...what? I must be stroking out, but I have no idea what point you're making here...?
- Alex3917 1mo agoMy point is that autism is already treated by the medical system as many disorders and not as a single thing. The reason they all share a common label is for political reasons, where it makes sense to group them together. But the actual medical system does not treat them as having anything in common, let alone as being homogeneous.
- s1artibartfast 1mo agoWhen autism is discussed as a culmination of denovo mutations, one thing that I dont understand is how this is reconciled with the history of the species. It seems there is a high rate of mutations, making the non-mutant ensemble incredibly fragile. How did this work in the past? Was there significant selection against mutant varieties?
- 1attice 1mo agoThat's a good question with a neat answer: assortive mating can amplify a randomly occurring gene by sexual selection. Read on for the details. Suppose that there was a gene that made you more likely to be good at white collar thinkwork. You meet your partner at a professional event and have a baby. The baby now has between zero and two copies of the gene. And depending on gene dominance, the probability of at least repeating the ratio of the previous generation is like 75% IIRC. Repeat, and fold back in. Next generation, you have a couple folks with both mutations, who exhibit an even stronger affinity for quiet thoughtful work (and people). Their kids will have a 100% chance of carrying at least one copy, right? The numbers for the third gen will be even higher. This is all massively simplified but yeah. Mendel has the answers. The picture is even clearer if you suppose multiple genes whose effects stack, which appears to be the case with the ol 'tism. And, finally, there is the lived experience of why this happens so much. Speaking as someone on the spec, I could never imagine life partnership with an allistic person, nor can I imagine such a person putting up with my deficiencies and quirks. Moreover, quite literally all my friends are also autspec and would never interface with someone who isn't. So I believe ASD is strongly selected for by people with ASD. But given the volumes I'd expect we are in the hockey stick armpit of an exponential curve. Like HIV bubbling away in 1950s Africa long before we even had a name for the condition, nineteenth century colonial industrialism probably quietly worked up a stock of the relevant mutations, and the mutants found each other in the grand blender of the 20th century's upheavals. As it were, silicon valley is one of the precipitants of sex, war, and intellect.
- wredcoll 29d ago> Speaking as someone on the spec, I could never imagine life partnership with an allistic person, nor can I imagine such a person putting up with my deficiencies and quirks. Moreover, quite literally all my friends are also autspec and would never interface with someone who isn't. So I believe ASD is strongly selected for by people with ASD. I am profoundly grateful I grew up in a situation that didn't cause me to self isolate into a subculture. I have all sorts of other problems, but I appreciate that one more as I age.
- XCSme 1mo agoAs a potential autist, I think everyone is autistic in one way or another (which would make everyone neuroytpical, lol). In the end, maybe we are just all unique individuals with our character sliders set in various forms.
- flatline 1mo agoThis line of thinking diminishes the real struggles autistic people face. Not everyone is autistic, and it's not just a quirky set of traits. I do believe society could be better arranged for people who for whatever reason don't conform to the overculture norms, so we could talk about disability along the axis of how society privileges or disadvantages certain individuals. The concern is that autism as a rigorous category may be useless, but that doesn't mean that autistic people are suddenly neurotypical -- a term that is more politically than scientifically oriented. People who are not autistic broadly are allistic, to be precise with language. They may be neurodivergent in other ways.
- XCSme 1mo agoBut different autistic people struggle with different things, in different ways. What's even the point of having a general diagnosis umbrella, if the symptoms are different?
- flatline 1mo agoGeneral doesn’t mean it applies to literally everyone. If autism turns out to be a specific condition that is e.g. the result of abnormal neuron pruning during early development, it could have a wide array of symptoms, but that understanding may someday lead to genetic treatments for sever cases, better early childhood interventions, etc. I do think that the current ASD umbrella as written in the DSM is so broad as to seem nearly meaningless when take in isolation. It’s not meant to be in isolation however, it’s defined first and foremost as a disorder, so the symptoms need to cross some threshold of tolerable. It’s also associated with a growing body of research as to how nervous system development can cause related clusters of symptoms. Is autism as we understand it scientifically accurate? Probably about as much as anything hovering in the intersection of social sciences and medicine. It does have some predictive power. If you meet the diagnostic criteria for autism you are likely to have certain comorbidities for example. Having certain autistic traits are good predictors of certain outcomes later in life. And we do have better therapies especially for young people than we have in the past. The fact that people can have non-overlapping clusters of traits and still be autistic does seem problematic. It may not be the right model. Just my $.02, I’m not the autism researcher in this convo, but I am autistic :)
- throw939ii44 1mo agoGenetics does not explain steep raise in last a few decades. Anyway, we do not really know what is causing it, have no real idea what it even is. But we must apply occam's razor very very quickly!
- john_strinlai 1mo ago>Genetics does not explain steep raise in last a few decades. as we built better telescopes, we found more stars
- coldtea 1mo agoQuick and cheap explanation many use, but not the case. Severe autism is also on the rise, and that doesn't need special telescopes, it's just evident.
- john_strinlai 1mo ago>but not the case like all things in life, it's not the only variable. but better recognition is absolutely a factor.
- autoexec 29d agoIt's entirely possible that the ability of doctors to diagnose even severe autism has improved, for example a family doctor who sees a young child with very low IQ may not be surprised by undeveloped language skills and may not recognize that as autism specifically. It's also possible that the increasing destigmatizing of mental/developmental disorders and increased awareness of autism in general could result in more parents and doctors seeking proper assessments. The sad reality is that there are still places where autism is likely to be seen a spiritual condition, a witch's curse, or demonic possession.
- wredcoll 29d agoWhat is the incidence per million over the last couple of decades?
- 29d ago
- hbcondo714 1mo ago@SubiculumCode, thanks for this comment and helping us understand better. Is there by chance a way to contact you about your research & expertise or would you mind contacting me using my profile info? I built https://behavior.today https://behavior.today and would love to connect on this topic. Thanks!
- deleted 1mo ago[deleted]
- RobotToaster 29d agoIsn't there likely a large epigenetic component?
- DoctorOetker 29d agoFor single celled organisms "epigenetic" effects carry non-basepair state from a single-cell parent cell individual to its single-cell children cell individuals after cell division, For multi-cellular organisms "epigenetic" effects carry cell type state from lesser differentiated cell type parent to identical or higher differentiated cell type children cells in the same individual. For example A->B+C where A,B,C are distinct cell types, or A->A+B, etc. You can't just copy paste the "individual level" concept of "epigenetic effects" from single-celled organisms to multicellular organisms. Yes epigenetic state transfer exists in multicellular organisms but it still carries it from parent cell to child cell, not from multicellular parent individual to multicellular child individual thats just brainfart.
- foolswisdom 29d agoI'm not sure if I understand, you're saying that there is no such thing as epigenetic inheritance? In other words you disagree with the phenomenon discussed in this wiki page? https://en.wikipedia.org/wiki/Transgenerational_epigenetic_inheritance?wprov=sfla1 https://en.wikipedia.org/wiki/Transgenerational_epigenetic_i...
- wahern 29d agoThere absolutely is such a thing as epigenetic inheritance. E.g. https://en.wikipedia.org/wiki/Genomic_imprinting https://en.wikipedia.org/wiki/Genomic_imprinting Epigenetics is a pretty broad term. Transgenerational epigenetic inheritance of environmentally-induced expressions, however, has never been firmly demonstrated in mammals, let alone humans. There's a bunch of needles that need to be threaded to achieve it, for example modifying gametes, then sneaking past the epigenetic resetting that occurs during meiosis, etc. Repeat the feat to cross more than one generation. There's a ton of extravagant claims and overly credulous reception driven in part by powerful cultural narratives. AFAIU, epigenetics in the popular discourse has different connotations then for most scientists. And when a scientist says epigentic processes are beyond dispute--because many of them are clearly established as key to some basic developmental processes--the lay person takes this as validation of, e.g., epigenetically inherited intergenerational trauma. But there's tremendous distance between those two extremes, both semantically and physically.
- nerdralph 29d agoI'm an aspie, and think my "version" of ASD has a large epigenetic component. I think social emotions that develop through childhood and adolescence happen through epigenetic changes that enable and disable sets of genetic material (not necessarily just genes) as the person develops. I think the physical changes that happen with puberty must involve timed epigenetic changes. I think the same thing happens with emotional development. I don't feel shame. I don't feel deference to authority. I never developed innate lust (sexual desire); it was learned after my girlfriend initiated sex. I never had problems with peer pressure. I like getting along with other people, but I don't NEED to get along with other people. My "problems" with empathy are primarily related to social emotions I don't feel. All my basic/mammalian emotions are fine. I cringe when I see someone stub their toe or cut their finger. I can't even watch bloody dramas on TV, because I feel uncomfortable despite knowing that it is fake. I think epigenetic differences likely play a larger role than genetic (DNA) differences because the mutation rate of the epigenome is higher than the mutation rate of the genome. Of course, I agree that the biology of ASD (and biology in general) is very complex, so I'm sure there's a lot more going on than just epigenetic differences. When I say "epigenetic", I'm not just referring to histone/methylation/cromatin changes to DNA, and perhaps there's a better word for what I'm trying to describe. It's my suspicion that some of the differences in my variant of ASD are not due to DNA variations, but other differences outside DNA such as RNA, prions, germ cell transposon differences, etc.
- inigyou 29d agoIf you don't feel lust, why did you have a girlfriend?
- Ancapistani 29d agoJust to be clear: are you suggesting that the only reason someone would want a companion is to satisfy lust?
- inigyou 29d agoWhat other reason would there be to have a girlfriend or boyfriend? Financial exploitation?
- brianmcc 29d agoReplying here to link -> https://www.bbc.co.uk/news/articles/cdew81wd2y8o https://www.bbc.co.uk/news/articles/cdew81wd2y8o Which is specifically addressing what seems to be a massive and current/active struggle in the healthcare and scientific communities in terms of reconciling the vastly different experiences of people with autism who are (a) largely/entirely independent, but with genuine additional and often significant struggles, and (b) people who will never lead independent "normal" lives. There is not an answer - there is friction and argument and emotion, and I suppose we are all waiting for things to run a course and maybe we will end up with alternative terms and sub-groups, in a few more decades of course... Would enjoy hearing your take on it SubiculumCode!