alt Hacker Newsautism 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.
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I'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.
As 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.
@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 and would love to connect on this topic. Thanks!
Genetics 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!
When 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?
I thought the US government had just decided that the cause of autism was vaccines </sarcasm>
Out 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."