Alpha Fold has continued to impact the field of protein networks, but I do hear that not every one of the deep learning biology models from Google/Deep Mind and others have made equivalent impact or had as lasting relevance in their respective domains..some have performed more poorly than other available models. I'd love to learn more about this, but this has mostly come from little snips of conversations here and there, in person and online, but I haven't seen anything comprehensive in terms of evaluating their impacts overall
So California wet year. We don't mind a good snow pack, but I've become increasingly worried about catastrophic flooding evens in Cali e.g. [1], and this does not ease those worries.
I also experienced vertigo, but I'm particularly prone to vertigo induced by 3D scenes. Still, I think this is the first time a screen as small as my phone did it.
There is interesting evidence that autism-autism social interactions are fairly vibrant. Everything is a bit more complicated than simple answers, no matter which way you swing.
Autism is a spectrum. Neurodiversity within and outside of autism is both intrinsically valuable and extrinsically valuable to society. However, not all phenotypes of autism should be viewed as neurodiversity, but as harmful. There is only so much that society can do to make severe intellectual impairments less disabling without identifying a cure for the intellectual impairment. The debate between medical versus disability models, neurodiversity versus pathology, inevitably gets pushed by those that want to classify everything into clean essentialist boxes, but that, I do not believe, is a helpful way to view the world. Not every condition is a pathology, nor is every condition benign if only society would do more to make it less disabling.
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.
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."
A lot of the behaviors by which autism is diagnosed (social communication, repetitive behaviors and restricted interests) are fairly high-level behaviors, dependent on a lot of cognitive/neural machinery beneath it. There is an idea out there that convergent behaviors that allow consistent diagnosis depends on this, as the resulting behaviors might results from differences in many different underlying processes, but the result at the higher level can be measured the same.
Analogy: Two programs can produce nearly identical behavior at the UI level, but be implemented very differently. Diagnosis operates partly at the "interface" level, but what happens underneath can differ greatly.
Is high-level behavior the only criteria for diagnosis?
I think the majority of the public would like to better understand how we came into this position. There's nothing wrong with the topic of autism as research, but it's been a political football for so long that there are many reasonable doubts about methodology, diagnosis, and relevance to everyday healthcare. I understand there may be complications with some patients that require medical diagnosis and intervention, but does that not imply there should be a much more meaningful label on those cases than just the broad umbrella term of "autism"?
On one extreme, we have people thinking they're autistic when they're actually just awkward and inexperienced in life. On the other, we have people with epilepsy who prefer the label "autism" even though they're merely correlated. Something is wrong here. Not with the science, but the discussion.
Though, to be more specific, it's even moreso about high-level behavior that has a negative impact, which is highly variable, particularly with environment. I think most would agree that this is extremely messy. But is there a better option?
For practical purposes, it makes some sense to diagnose based on high-level behavior and negative impact on one's life. Describing the relevant what rather than the currently-unknown why.
I do think a more granular approach would have benefits as far as treatment and such goes, though. I know a lot of folks with Asperger's diagnoses were upset when that was rolled into autism. I don't think that was the best distinction to be made, but I think it does show that the people with these conditions often aren't opposed to more granularity (myself included).
What’s interesting about this is, as you point out, the “negative impact” side of this is extremely situational - many of the most talented engineers I’ve ever worked with were very much on the spectrum, and within the bounds of the work we needed them to do, they were phenomenally better adapted than the more neurotypical members of the team. We accommodated them instead of making them accommodate us and they were absolute superpowers for our team.
I get the feeling that with a sufficiently advanced understanding of the brain we could attribute every personality trait to a biological explanation, but if someone isn't sufficiently disabled or in need of treatment, is there any benefit to doing so?
The person who possibly is on the lightest side of the autism spectrum has so little in common with the other end that it feels incorrect to label them as the same condition.
"Did we know the mechanical affections of the particles of rhubarb, hemlock, opium, and a man, as a watchmaker does those of a watch ... we should be able to tell beforehand that rhubarb will purge, hemlock kill, and Opium make a man sleep; as well as a watchmaker can" -- John Locke (1689)
On the contrary, autistic people tend to be way too mature for their age, often visibly so. (it used to be called the "little professor syndrome")
It seems to me that's what they actually found - the genes accelerate maturation. Maybe it's just the neoteny fetish of the modern society that makes it feel like a disorder.
> autistic people tend to be way too mature for their age
Appear to be, which isn't the same as "tend to be" because many go from being perceived as "overly mature children" to being perceived as immature adults because they diverge from social norms. Traumatized children also appear to be too mature for their age, and the likelihood of being traumatized growing up as a neurodivergent child is pretty high.
Neoteny makes people immature. Self centered, childish, irresponsible, agressive. It's well known which dog breeds cause the majority of injuries - pittbulls, which are little more than overgrown puppies.
Well, people with epilepsy who “prefer” the autistic label are just people who are wrong. They may be both autistic and have epilepsy. Epilepsy is diagnosable based on observed neurological events and physiology, it does not depend on behavioural observations, a person’s opinion about whether they have it, or a doctor’s interpretation of a self-evaluation (as autism diagnosis often does).
I disagree with you that it’s the discussion that’s off, it is the science.
The problem is that autism is not a clearly defined disorder. Its definition and diagnostic criteria can and have changed, and even then, those criteria are poorly specified.
One thing that I have always found troubling is the “clinically significant impairment” requirement of an autism diagnosis. It seems to me that a person’s level of “impairment” is likely to depend on individual differences and possibly environment and circumstances. To me this seems odd: surely the disorder exists regardless of a person’s ability to manage it? If a person grows up in accommodating circumstances, do they not have autism? What if someone grows up in tough circumstances but later finds more accommodating circumstances, is their autism “cured”? Questions are facetious, but the point stands.
It’s also odd that we see autism so highly implicated in comorbidities with other disorders such as epilepsy, which aren’t dependent exclusively on phenotype observations to diagnose. To me, this strongly indicates that what we call autism today (or some sub/superset of it) likely will become definitively diagnosable in future with improved understanding and brain imaging.
For now, it feels like the diagnostic criteria are actually just guidelines for guessing whether someone is autistic, rather than determining it (especially when it comes to determining what constitutes “significant clinical impairment” and its varying degrees).
To be clear: I definitely believe that “autism” exists and is a disorder that impacts people broadly as described, the challenges are around its definition and diagnosis. I have spoken to autistic people before who have found my views to be offensive, and invalidating of them. That’s not my intention, my intention is to pursue accuracy because I believe with better understanding, we will be able to make sure our public spaces/workplaces/etc. are accommodating to everyone, including folks with different needs.
Diagnosis is not a criminal conviction in a North American court of law. In particular, reasonable doubt -- particularly among casual, non-clinical, self-deputized jurists who don't generally have any insight into the patient's chart, let alone medical qualification whatsoever -- is not a sufficient justification to withhold diagnosis.
In your post, you are leaning a bit too heavily on vibes to do the heavy lifting in making your points. For example, you claim there exist people with epilepsy who prefer to be labeled as autistic, but you don't say how many people are doing this, why they are doing this in a way that doesn't strawman, nor why this is even topical.
My interpretation is that you are hoping the reader will have specific visceral (vibes based) reactions to these facts and the drama of the spectacle you've described -- e.g. "yikes, some morons are conflating correlation with causation/identification and using that faulty reasoning to claim a diagnosis they don't deserve". Please correct me if I'm misrepresenting what you are trying to communicate, it is not my intention
My suspicion is that this is a tiny number of people to begin with, and not an indictment of autism diagnosis in the way you believe it is. In fact, most of the people you seem to take issue with are self-diagnosing. What specific "methodology, diagnosis, and relevance to every day healthcare" are you taking issue with then?
Ok, that makes sense - so ASD is basically that we’ve noticed some prototypical behaviors, which is where the grouping comes from, but it’s possible what we’re seeing is sort of the “carcinization” of mental operating modes - many different pathways into the same output point, which is why the genetic search has been so difficult - that right enough for a non-scientist?
What I know of the brain is that it’s basically a chaos machine - a ton of activity that’s just on the edge of a cascade, a bunch of feedback loops, a bunch of emergent behavior, and it’s kind of impressive we function at all to begin with, so it’s not surprising there’s so many ways to perturb the output behavior.
My understanding is that that's what makes it a disorder - that it's just a collection of symptoms that seem to appear together, rather than something with a known mechanism and cause
I feel like your initial question can be applied to a lot of things. For instance, Elher Danlos Syndrome has 13 variations depending on which gene is mutated. This include 11 known mutations and 2 catch-all categories for variations where we haven't yet found the mutation. Why are all these mutations under the same disease when they have such a range of symptoms? My guess is that it is because they were all lumped together before we had the language to talk about them as separate things or the technology to identify the causes. Going back and saying oh all these people don't have ASD or EDS or whatever but this specific thing that we have now identified might cause some disruption is research and awareness.
From what I know of cell biology (read: committed dilettante), the notion that one gene does X is rarely correct. The way to think about genes and the proteins they encode for is less “blue eyes” and more “metric socket wrench #5” - the protein is a tool, and lacking that tool means any operation that requires that tool isn’t going to function as normal, which is why you see such weird disparate effects from mutations and also multiple genetic pathways to the same pathology.
Also nature is absurdly cavalier about using whatever it’s got at hand, so it’s not so much “metric socket wrench #5” as “the pry-bar/hammer/thing we use to hold the hood open” that gets fucky when the genes go wrong.
To aid curious readers, the cell biology term for this (many genes to do X) is pleiotropy. The Wikipedia article [0] conveniently includes a discussion on its relevance in autism.
You can invert that. Why do people with similar or the same genetic code (identical twins) have such variation in symptoms?
Ultimately, the symptoms are what people experience, and treatments often center on mitigating symptoms. Having an insight into the underlying genetics may or may not help anyone live with a disease, especially not in the near term.
Note, I am not a doctor, and this is just my current understanding:
To make it easier to get insurance to pay for support. That's a big chunk of it at least. If each of these profiles was a separate diagnosis, it'd be way more common for insurance to deny paying even things like therapy for stuff in the long tail. Rather than have to re-argue again and again that people are worthy of support, the diagnosis broadens to help get that support to all that need it.
This is also true for ADHD, and I'm sure other diagnoses as well.
There's also a layer of making it easier to get kids the academic support they need when that support requires meeting certain officially recognized criteria. "Oh, little Jimmy's psychologist says he has Cognitive Disengagement Syndrome? We don't consider that as needing accommodations."
It's already sometimes exceedingly challenging for parents to get schools to actually support their children when it's a commonly understood and accepted diagnoses like ADHD.
I generally think of it as when we find a treatment that works for a specific group but not others then we need a more specific name and diagnosis to get the right treatment. So long as we don't have anything that says this specific treatment (or never that one treatment to that is useful for others work similar symptoms) there is no point in a name.
My 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.
Ah, I can see how that would be the case. But I thought it was moving in the other direction? I am extremely ignorant here, so correct me, but the only example I know of is that they removed Asberger's Syndrome and turned it into generic Autism.
Yes, that was a political decision based on the fact that people with Asperger’s weren’t able to access sufficient social support. But from a medical perspective, the two have basically nothing to do with each other; Asperger’s is primarily about the connectivity between brain regions, whereas (traditional) autism is more about functionality within brain regions. Obviously there is a lot of overlap and this isn’t necessarily the mainstream scientific interpretation, but I think it’s the most parsimonious way to define these terms.
I mean you can literally upload your genetic methylation variants and bloodwork into Gemini and have it one shot a custom treatment plan for you, how much more personalized do you want? Obviously if you want hand holding from the medical system you can pay a psychiatrist or a functional doctor to do the same thing, but at this point the idea that treatment isn't personalized enough is frankly absurd.
No, AI can greatly help with research. It helped me a lot during my cancer treatment, which was very complicated. Which makes sense, every cancer is different, and mine was quite crafty and unique.
But that's it. It helps with research, that's it. You still need doctors, typically multiple different doctors of different specialties, if you want correct treatment. The AI is a good starting point, so you can start asking your doctor the right questions, but it's never the ending point. At least, in my opinion. I'm sure it depends on the condition, and how much it follows a template.
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!
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?
1. common variants. Common variants are genetic variants weakly associated with autism that we all have to some degree or another, and that only result in autism given a sufficient number of them are found in a person..or at least that's a common idea and pretty well supported. These variants are inherited.
2. rare de novo variants: These are spontaneous genetic variants that the parents did not have, but there was a mutation during production of sperm, for example. Many times, rare de novo variants that occur in highly conserved genes cause tremendous neurodevelopmental problems, spanning death often prenatally, other conditions, and for, autism, most frequently with severe intellectual disability.
Common variants are heritable and common, and are part of the normal spectrum. Only with a very large load do these result in the severest conditions, I think, like intellectual disability.
Occurrence of rare de novo variants are associated with things like age of father (older, less reliable production of sperm without genetic mutations), pesticide exposures, etc.
There is also a real immune factor involved, as well as environmental exposures, which can interact with genes.
Is there an understanding of the relative prevalence of each type in modern society? Thinking about changing rates of diagnosis, with common circulating variants, it seems like changes to detection and classification would be the only explanation for rate change.
That'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.
> 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.
So, you could form an intimate relationship with literally anyone on Earth? Good luck getting through just the first floor of your condo block.
I haven't written anyone off, I just plain don't like most of them. Are you that different? Why do you assume my statement is a priori instead of an empirical observation? Is that how you think about your own preferences, or do you ever just kinda go "huh, I guess I really don't like $thing?"
Love is very, very specific, and I happen to be blessed with it.
> I haven't written anyone off, I just plain don't like most of them.
I'm not trying to convince you, but for anyone else reading this, especially if you're young, people are social creatures and being social will make your life better. It's frequently not easy, and often quite difficult, but so is doing 100 pushups or getting a phd or whatever. Being difficult is not the same as being bad for you.
There is a gigantic difference between "I talked to Jay and he told me he hated me and I was going to burn in hell so I decided I don't like him" and "I have decided that all normies/allistics/football fans/whatever are boring and I don't like them".
It's hard to describe the kind of mindset I'm talking about here in a YC textbox. I firmly believe that every person working at say, the checkout line in my local grocery store, know or have done genuinely interesting things and if you ask the right way, you can find those fascinating things.
That doesn't mean I actually talk to every person who rings up my groceries, or even most of them, frankly. I'm frequently tired and in an asocial mode. But there's a big difference between "I'm choosing not to interact with this person right now due to my own energy/preferences right now" and "this person is inherently bad".
> or do you ever just kinda go "huh, I guess I really don't like $thing?"
Not anyone, but i wouldn't exclude 98% of them, sight unseen. I think it is very closed minded, factually biased, and wrong. Further it sets the stage for a lot of hostility.
> Moreover, quite literally all my friends are also autspec and would never interface with someone who isn't"
@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!
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.
I can remember liking girls from the time I was 5. As with neurotypical pre-pubescent boys I had no sexual interest; holding hands was the only physical contact I desired. Around 11-12, some other boys talking differently about girls, noticing the ones with breasts and other body changes associated with sexual attractiveness.
This 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.
I'm reminded of an anecdote I heard once from a psych(ologist/iatrist?) that goes something like: if you think you hear voices in your head, but the voices tell you to go to bed on time and drink plenty of water, you don't need a diagnosis/treatment.
The point is that a lot of things, when it comes to humans and their brains, is judged first based as to whether or not it negatively affects your life. Think of how we define addiction.
General 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 :)
> But different autistic people struggle with different things, in different ways.
Different asthmatic people struggle with different things, in different ways too, but it's useful to have a general diagnosis umbrella to cover those who have asthma even though symptoms and effective treatments may vary.
Work is ongoing to get better defined categories for autistic people, but for now at least we've got a category for people that match a broad set of traits/symptoms/challenges to work from.
The problem is that the set of problems is very broadly defined, changes over time, varies from person to person, it's often impossible to obiectively test.
Can't it be that a neurotypical person is bothered by some autistic triggers? Would that make them neurodivergent? How many of those triggers do you need to have to be under that umbrella? 1? 5? 20?
It is indeed called a spectrum, and I think it gets so fuzzy at the edges that the only way to define where it starts or ends is purely arbitrarly chosen.
It's a bimodal distribution. There are people with few of these traits lightly, and people with many or with a few severe ones. Not so many in between. This already makes it an interesting line to draw.
No so different things, and not so different ways. The "if you met one, you met one" is overplayed. Yeah, they have different interests and might have different comorbidities, doesn't mean they don't just have different core issues that are merely expressed differently (e.g. hates jeans vs hates wool sweaters or hates noises, but underlying both is sensory sensitivity).
The fact that they don't is why diagnostic tests exist and work.
That's a good example: they hate certain things, and are ok with others.
Depending on what you "hate" your life and disability can vastly drastically. Be it eye contact, clothing, certain foods, or the inability to change your routine or environment at all, or to even leave the house alone.
>The concern is that autism as a rigorous category may be useless, but that doesn't mean that autistic people are suddenly neurotypical
IDK. I'm diagnosed as autistic, but I've become a bit less attached to that label in recent years. Like, I do struggle with eye contact, excessive noise, and social situations. I'm not going to say that I'm just a normal guy, but I do think that there's a wide spectrum here that encompasses everybody. I don't buy the idea that autism is some special category of people that are totally unlike neurotypicals. Instead, it's just one side of the spectrum, with neurotypicals on the other end, and an ambiguous group in the middle[0]. I think that once society becomes more accepting of neurodiversity, we're going to stop getting so hung up on labels like "autistic" and "neurotypical" and accept that there's a lot of nuance in the human condition.
[0] In reality, this spectrum would be multi-dimensional, but I'm choosing to describe it as a 1D line for illustrative purposes.
When I first considered my condition, I was looking around and was trying to mentally label people as neurotypical/neurodivergent.
After a few years, I started labeling more and more people as neurodivergent, because I could notice more subtle hints. Now, I instead just try to figure out how far on the spectrum everyone is, to know how the relationship dynamic will be like.
But that's the thing, sight and blind can be easily defined.
"Autism" can't, most of the people live undiagnosed, many mask the symptoms unknowingly, specialists can't even tell exactly if someone is autistic or not, many people are misdiagnosed, or diagnosed as neurotypical by some specialists and neurodivergent by others.
I don't think the ratio is that far towards neurotypicals as it was previously believed. I think that, as most things in life, it's a gaussian distribution.
> Autistic people pretty reliably score high on a set of diagnostics test
Any sources? In my experience, most people that I know are on the limit with their diagnostic, and the majority discovered it late in life (30+, so a lot of masking is involved).
First, and foremost, the rise in autism rates is due to more sensitive instruments, a broadening of some inclusion criteria between DSM 4 and 5, more awareness of autism, less stigma associated with autism, services attached to autism diagnosis. I believe current research suggests these don't account for all the rise, but does account for most of it.
If I were to include additional biological possibilities, I'd include: a) birth control -> waiting to have children until a later age, more de novo mutations due to age. b) assortive mating, since some careers tend to attract those on the within and on the edges of the spectrum., c) perhaps controversially, and with the very little research on the subject, endocrine disruption from plastic waste exposures.
@SubiculumCode - replying as you are a researcher in this field. There is an increase in profound autism globally (I think this is the new naming to differentiate severe autism) which isn’t explained by sensitive instruments or inclusion criteria. You just don’t need them to identify profound autism, it is that obvious. Affected people need caregivers for life also causing severe mental and financial stress. It will only help your research to investigate this increase which perhaps will lead to medical breakthroughs.
I agree 1000% that the full spectrum of autism must be included into autism research.
My research for the last 10 years has been dedicated to collecting and analyzing data for the Autism Phenome Project [1]. Unlike almost all autism neuroimaging research, we include the full spectrum of autism, with a third of our participants with severe intellectual disabilities, closely matching their share of the autistic population, as well as those who are non-verbal, have extreme specific phobias and anxiety, sensory sensitivities, self-injurious behaviors: the full spectrum. It still frustrates me to no end that almost every neuroimaging study you read by default excludes those with IQs less than 80, while our cohort has managed, through very hard work, managed to image individuals with IQs in the 20-60 range with regular success.
>It still frustrates me to no end that almost every neuroimaging study you read by default excludes those with IQs less than 80, while our cohort has managed, through very hard work, managed to image individuals with IQs in the 20-60 range with regular success.
I appreciate the effort it takes to include that group. My brother has severe/low functioning autism and he also has very limited language capability (limited vocabulary with simplified grammatical constructions, mix of ASL/SEE signs and spoken words, difficulty producing certain sounds). I've always found it odd that even studies that mainly use data gathered by imaging or other medical tests that don't rely on the subject's mental capacity to participate almost always have no subjects that resemble him at all. I've always assumed it's because it's significantly harder to manage such subjects and probably also very likely for their families to be unable to bring them in for testing in studies that span years.
> If I were to include additional biological possibilities, I'd include: a) birth control -> waiting to have children until a later age, more de novo mutations due to age.
Surely it should be easy to collect the data to plot such a hypothesis: incidence rate vs age of father and vs age of mother at conception, and at birth.
Be careful of reverse causation. Being autistic makes you more likely to have children later (if at all) and we know it's at least partially heritable.
Severe autism is on raise as well, and that has stable diagnoses over several years. Plus general cognitive decline in last a few decades is also documented.
Is it politically correct to write about later stage pregnancies? It would be insta ban only a few years ago.
Perhaps soon we will be able to openly discus something else, that may cause endocrine disruption, not just plastics!
We already know that most of the increase, even in diagnosis of level 3 autism, is due to diagnostic shifting/switching (as explained pretty well here: https://youtu.be/BdpSfrD3Nzs). We also know there are reasonably well supported risk factors that are increasing in prevalence; e.g. father aged >50 at the time of birth.
Quick 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.
It'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.
I have twin cousins who have severe autism, one of which is institutionalized. When they were very young we (their caregivers, family, and doctors) understood their diagnosis to be "mental retardation." Nowadays they are known as autistic. They didn't change, but the world around them changed so their diagnosis shifted.
Before there were government services families still had children with profound disabilities that required lifelong care, they just didn't usually have any formal diagnosis. Everyone still understood that they need help with everyday activities and can't live on their own but sending them to specialist for a diagnosis didn't seem like something that was needed or even available if desired. The diagnosis is needed if you're applying for services, so more services that exist means more formal diagnosis will happen.
Well we used to just let those people die. You know how the medieval family had like 15 children and 4 survived to adulthood? Some of those 11 were severely autistic.
A) There are more autistic people because something noxious causes autism.
B) Nope. There are more autistic people because tests improved.
This common discourse annoys me a little, frankly. The problem is that "B" does not imply "not A". Both explanations can be true at the same time.
But people people will automatically discard "A" because "A is problematic". It implies a cause, and we may not like it, so is removed from the discussion ASAP.
The same kind of "problematic" that was to observe in 1960's that "smokers develop lung cancer frequently, maybe tobacco causes cancer". Companies will fight teeth and nails to dismiss it and say "look at the cute squirrel over there".
But is true that we started to notice much more autistic people after the use of some particular pesticide became widespread in the entire planet. May be related. May be not. May be a common result triggered by many causes, but we should not jump to bring home the "nice" B just because is nice (and politically convenient)
For 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.
There absolutely is such a thing as epigenetic inheritance. E.g. 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.
Come 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.
I felt it useful to provide a reliable source for such an outrageous national position. Lest some think it exaggeration or twisting of facts for humour or effect. It's not. Yikes. :-)
I once thought I'd test the hypothesis that the frequency of HN front page stories reporting a death was increasing over time. Started figuring out how to get the data, got distracted by life, and never got back to it.
edit: that was not a criticism of such stories, but I was alluding to the fact that the generation that pioneered early computing in the 70's and 80's are getting older.
Yayoi was 97 and I don't think she'd be described as such.
Given the formatting here, it wouldn't be difficult to create the tool you're speaking of. separating "computing pioneers" from non-technical deaths is the more involved part.
Yeah, I suppose it wasn't specifically relevant to Yayoi, but I was only giving an example of why my hypothesis might be true, not to restrict it to computer-related persons.
reply