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.
roughly
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."
SubiculumCode
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.
roughly
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.
StevenWaterman
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
roughly
Oh interesting, I didn’t know that was the distinction - thanks!
inigyou
Notice how the word "syndrome" as in the older term "Asperger's syndrome" describes a group of symptoms, rather than a cause.
sublinear
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.
ksymph
> Is high-level behavior the only criteria for diagnosis?
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).
roughly
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.
coldtea
>On one extreme, we have people thinking they're autistic when they're actually just awkward and inexperienced in life
And you know that they're "just" the latter, and not autistic, because? They don't look like the Rain man?
Gigachad
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.
ahazred8ta
"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)
EQFitzgerald
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.
dns_snek
> 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.
EQFitzgerald
They diverge from the norm, because they grow out of what is considered normal adult behavior.
inigyou
Maybe but in that case they are then less mature in other ways due to not having the proper formative experiences.
And what's wrong with neoteny?
EQFitzgerald
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.
d1sxeyes
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.
vector_spaces
> the majority of the public
This requires some citation or justification.
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?
imzadi
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.
roughly
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.
hangsi
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.
Bjartr
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.
bluGill
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.
humanfromearth9
We name them as one (autism), but try to treat each as what it is specifically
Alex3917
> 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.
inigyou
This hypothesis runs into the slight problem that autism and ADHD are highly co-occurring.
kulahan
"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
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.
kulahan
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.
Alex3917
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.
coldtea
>But the actual medical system does not treat them as having anything in common, let alone as being homogeneous.
That's not really true. Not to mention the very TFA, and the research that led to papers like it, is based on the opposite.
Alex3917
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.
coldtea
Is this satire?
preg_match
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!
s1artibartfast
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?
SubiculumCode
Genetic contributors to autism include:
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.
s1artibartfast
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.
1attice
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.
wredcoll
> 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.
1attice
Honestly, right back at you. I love my people and they love me. Hope you get to the same. No one deserves to be alone in the manner you describe
s1artibartfast
>No one deserves to be alone in the manner you describe
Woosh.. they are describing your mindset. Writing off 98% of the population as potential friends or lovers.
1attice
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.
Check yourself over for ableist pity.
wredcoll
> 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 $thing?"
Not when "$thing" IS A GROUP OF PEOPLE.
s1artibartfast
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"
hbcondo714
@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!
nerdralph
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.
inigyou
If you don't feel lust, why did you have a girlfriend?
nerdralph
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.
Ancapistani
Just to be clear: are you suggesting that the only reason someone would want a companion is to satisfy lust?
inigyou
What other reason would there be to have a girlfriend or boyfriend? Financial exploitation?
boonzeet
Love? Emotional connection? Care, empathy, social connection, support, like-mindedness…
Lust and control are perhaps the two worst reasons to have a relationship.
inigyou
Those sound like the excuses people typically make for lust, yes.
s1artibartfast
Are you on the spectrum too?
Ancapistani
The funny thing about this — I am
XCSme
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.
flatline
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.
matteoraso
>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.
XCSme
Yup, exactly my thoughts.
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.
XCSme
But 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?
wredcoll
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.
XCSme
Ha, that's a great analogy, I like it.
Even more, what is considered "positive impact" changes over time, so what was "crazy" 50 years ago, might be normal or even recommend now.
flatline
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 :)
autoexec
> 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.
XCSme
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.
inigyou
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.
XCSme
That's interesting. Are there studies on this? I.e. 1000 participants, "count" the symptoms and make a graph of autistic symptomps/person.
coldtea
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.
XCSme
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.
XCSme
I said that if everyone is neurodivergent, then no one is.
Same with IQ, if everyone is 150IQ, then everyone is still 100IQ, as per the definition, so "normal".
Divergence can only be mentioned when talking a base value to diverge from. What if neurotypicals are actually the neurodivergent ones?
coldtea
>What if neurotypicals are actually the neurodivergent ones?
That would need them to be the minority, which they are not.
Same way sight is not the special case, blindness is.
XCSme
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.
hoppp
Typicals are the neurotype that reproduces fastest, that's it.
inigyou
What about psychopaths?
hoppp
Psychopath is not considered a neurotype
inigyou
Why not? It obviously is one.
hoppp
In some form yes, but a psychopath can be also autistic, dyslexic or neurotypical but psychopathy by itself is not considered a neurotype.
coldtea
Yeah, no. Autistic people pretty reliably score high on a set of diagnostics test for example, whereas others do not.
For ASD 3 and 2 it's even easier to see it's not "everyone".
XCSme
> 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).
inigyou
Bimodal distributions exist
throw939ii44
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!
SubiculumCode
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.
longhaul
@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.
SubiculumCode
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.
ahazred8ta
You'd think that subjects who are institutionalized would not have this access problem.
DoctorOetker
> 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.
inigyou
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.
DoctorOetker
reverse causation? if the stated premise were true, it should be easy to plot.
throw939ii44
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!
javanissen
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.
>Genetics does not explain steep raise in last a few decades.
as we built better telescopes, we found more stars
coldtea
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.
autoexec
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.
inigyou
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.
coldtea
That would be relevant if we compared to the 10th century. We're comparing to the 1960s and 1980s.
john_strinlai
>but not the case
like all things in life, it's not the only variable. but better recognition is absolutely a factor.
wredcoll
What is the incidence per million over the last couple of decades?
astura
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.
pvaldes
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)
jasonpeacock
The steep rise in the last few decades is primarily due to increased awareness and expanded definition/diagnoses.
RobotToaster
Isn't there likely a large epigenetic component?
DoctorOetker
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.
gignico
I thought the US government had just decided that the cause of autism was vaccines </sarcasm>
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.
emptybits
Glad it was clear to you.
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. :-)
kayo_20211030
I'm interested - for reasons. Does anyone have a sense of what this study means in a practical or actionable sense?
In toto, the conclusion of the paper:
> Together, these findings define a dual-layered model of molecular convergence in ASD: convergence through shared interaction networks in the wild-type state and convergence through recurrent functional consequences of interaction rewiring in the mutant state. More broadly, this work establishes a scalable framework for systematic interrogation of the autism proteome, enables prioritization of druggable protein interfaces, and provides a rational foundation for precision therapeutic strategies aimed at restoring neurodevelopmental trajectories.
I have no grounding here. Does anyone want to have a go at teasing the meaning out?
randomImmigrant
Here’s how I’m thinking about it (still digging into the details): across genomics, it’s become clear few traits have clear traceability to a few loci in the genome.
Instead, evidence has been growing that epistasis, the nonlinear interaction between genes and other genomic regions, predominates in explanations of most phenotypes.
What this paper does is show where upstream of the genome various combinations of mutations can interact to cause damage during development, thus leading to the phenotype. Rather than correcting a particular mutation, or targeting drugs to their protein products, we may find downstream protein-protein interactions that are strong drivers of the phenotype, and hopefully find ways to prevent/reverse these effects.
AndrewDucker
Nothing yet. This is incredibly preliminary, with lots of this being tested in frogs.
It hopefully gives hints which will be tested,better understood, and show actual mechanisms in humans. But probably not for years.
klipt
Dr: I have good news and bad news
Patient: What's the good news?
Dr: We have a two step treatment to improve your social-emotional life.
Patient: What's the bad news?
Dr: The first step is, we have to turn you into a frog...
inigyou
that's easy right? you just gotta ssik a ecnirp.
slantedview
There's a CNN article that has some expert quotes for context, but isn't quite as in depth as the study itself: https://archive.ph/yBiM8
rickydroll
I interpret it as they think they can find treatments that will course-correct the development of a child, but they're not saying anything about fixing something that's already broken.
Muromec
I for once enjoy the glitches in my signal mixing module, don't want nothing to fix there.
creaturemachine
It's the normies that are missing out.
forestrywat
What do you mean "broken"? Autistic folks are not broken.
rickydroll
I live with a child who spends entire days with videos on his tablet. We can't take him anywhere because if the trip differs from what we told him (trip duration or locations), we have to abort the trip to prevent a meltdown. His inflexibility means he can't hold a job or go to school or training. He can't do household chores without prompting and handholding. He will never live alone or have anything resembling a functional life. We have to make plans for how he will live after his mother and father die. We have to make space for his meltdowns that seem to come out of nowhere.
His mother nearly bankrupted herself paying for private school for kids on the spectrum. His parents sued the local school system because they didn't have any teachers who had any skill with autistic children. couldn't protect him from bullying and couldn't or wouldn't follow the IEP. (Note: this is one of those events that ruin retirement plans). The state claims to have resources for my partner and her child, but when they try to get help, the state says it didn't realize she would need that much help.
Then there is the never-ending struggle to get appropriate psychiatric and psychological help for him, and if you think it's hard to find a psychiatrist for ordinary mental illnesses, finding someone who knows how to deal with kids on the spectrum is almost impossible.
His disability has had a negative impact on my relationship with his mother. As she has to make room for her child's emotional outbursts, I make room for my partner's angst about having a child who will never function on his own. There is a big loss of day-to-day intimacy because you never know when you will have to put up an emotional barrier against his behavior.
yea, in my eyes, that counts as broken
ElijahLynn
Thank you for sharing your lived experience, it is meaningful.
I suspect some who say they like autistic traits, mean "level 1" on the ASD.
May I ask if this child is level 2 or level 3 ASD? I'm imagining it is quite a different reality with level 1 vs level 2/3.
My child is a level 1. It has cost me thousands and thousands of dollars to get her help because no one wants to give her resources because she's so high functioning. So high functioning! Yes my child who has random panic attacks and bolts in random directions. My kid who had a meltdown because I forgot to tell a friend that if she goes to one particular park, they have to get ice cream. My kid who is 7 and was suicidal from the social isolation that's starting up. And now that she's self-harming, now people want to give help! But not for the under lying issues. She's so high functioning (aka female and coping decently). She doesn't need pragmatic language help or social help or any of that stuff. Her spiraling is just purely chemical imbalance. Here's some pills.
My kid is truly high functioning. Only professionals tag her immediately. For everyone else it takes some long term intimate interaction to realize something is wrong. Any autistic adult who says this is great is coping. I have talked to too many high functioning autistic women and there only seem to be two camp: lots of mental health issues with possible commitments or intense treatment that their parents poured so much money into. And never of those is okay or what I'd wish on a kid. I didn't even know it was possible for a 7 year old to be suicidal without a major life event and apparently this is just a thing with some high functioning autistic kids. This is not okay.
forestrywat
I'm dx'd level 2. I was diagnosed until later. It's hard to be an autistic kid, full stop. Nothing but empathy for you and your daughter.
If it's any consolation, childhood years can be very tough around that age for autistic kids, but many of us find significant communities once we get online and around other autistic people our own age. Many of us go on to be very successful and happy adults once we find our niche.
rickydroll
He's never been classified that way as far as I know. I would say somewhere between level 1 and level 2. He writes very well. But speaking person to person, not so good. And as I described, there's significant rigidity in his behavior. For example, when he cooks, he can't generalize. Cooking is by time, not appearance, food has to come the same packaging etc.
forestrywat
Level 1 is minimal assistance needed. Simply "requires support". Might need headphones sometimes or additional space to process feelings. This can often be just some extra coaching or training.
Level 2 is "requires substantial support". This is where there are significant obvious impairments to daily life. You may not see emotional reciprocity, and peer relationships may be difficult. Sensory sensitivities may be more pronounced.
Level 3 is where people may be nonverbal or not always verbal. They may need significantly different communication systems like pictures. Aggressive outbursts, repetitive and narrow interests, self harm like head banging, shutdowns or meltdowns from moderate to mild stimulae are not uncommon. They will likely need supervision and may need support to consistently complete basic daily tasks like eating, toileting, etc.
I'm diagnosed level 2. What you are describing does not at all sound like level 1. Perhaps you've flipped the scale and meant somewhere between 2 and 3?
rickydroll
You're probably right. I may have flipped the scale. I see most of what you describe in level 2 combined with significant difficulty being flexible. At the same time, he writes very well expressing his emotions and insights. He can handle basic things like hygiene, laundry and food prep if it's pre-packaged but has a hard time with emptying the dishwasher. Frequently when he does things around the house, he is watching videos on his tablet in one hand and using the other hand for the task.
cuttysnark
Sounds like your relationship is suffering. If it’s as you describe, in my eyes, that counts as broken.
Do you have any biological children? This child is not yours, you made that sufficiently clear.
rickydroll
Yeah, it does suffer but we make a conscious effort to find the positive things in our relationship and life.
No, I do not have any children of my own. I am thankful for that because my ex-wife apparently was also autistic but not diagnosed until after divorce. On my maternal side of the family all of us kids inherited some form of severe depression through my brother was schizoaffective. I survived, found good treatment that left me feeling like myself with a clear mind. My brother on the other hand was tortured by his demons and ended up taking his life a couple of years ago.
Not having kids was a conscious decision because I didn't want to take a chance of spreading the family curse to the next generation
999900000999
Not everyone should be a step parent.
GP, you don’t have to do it.
I’d much rather be alone forever than treat another human being as a mere obstacle to my happiness.
rickydroll
It's one of those choice not choices. I love my partner a lot. We bought a house together with a great yard with a significant fruit and veggie garden.
Separating would be significantly destructive / damaging on both a personal and financial levels.
That said, I entered this relationship without fully understanding the impact of an autistic child. I would not condemn anyone who refused to be in a relationship if the other person had an autistic child.
999900000999
> I would not condemn anyone who refused to be in a relationship if the other person had an autistic child.
Let me correct that for you,
> I would not condemn anyone who refused to be in a relationship if the other person had a child.
Being a step parent is one of the most difficult things a person can do.
If you can’t or don’t want to do it that’s fine.
rickydroll
That's a good correction. Heck, leaving space for the child to grow up and have their mom when they need them and not helping if it is not asked for is difficult at times.
From my admittedly limited experience, the parent and child have relationship that will keep you on the outside even if the family has made a conscious choice to include you as a step parent. I have made a conscious choice to be okay with being on the outside.
My deepest relationship and commitment is with my partner. Everything else is secondary... except maybe watering the plants in the garden during a drought.
999900000999
Ok.
You have 2 options.
Stop making so many harmful assumptions about your partners child. Theirs a good chance he’s just weird and he’ll grow out of it, but you’re not exactly helping here.
Hell, to be honest I was weird as shit as a kid until my dad kicked me out and then I matured real quick.
If I had to guess my issue is that I’m essentially half asleep most of the time unless I have a Red Bull or 2.
Or you can always just leave.
Right now your post reads like ; “This annoying kid is messing up my relationship with his mom, I’m the victim here”
I’d venture to say all kids are annoying and if you can’t deal with that date someone without kids.
djaro
Autism is a disability. The function of the brain to normally process social cues is broken. In the same way someone who is blind has broken vision, someone in a wheelchair has broken legs, and someone with ADHD has broken executive function.
This isnt a moral judgement, theres nothing wrong with being disabled, but it remaims a disability that many people struggle due to.
hoppp
The disability exists when compared to neurotypicals but does not necessarily exist when compared to other autists.
As a comparison, if you put a bonobo with chimps the bonobo will be severely disabled socially, but it won't be when compared to other bonobos.
The fact that autists can communicate with each other does not fit typical models of disability. A blind person should be blind to another blind person.
SubiculumCode
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.
forestrywat
You've agreed with what I said. Nothing here is counter to or in opposition to my point.
The person has a disability. Part of the person may be broken, but the person isn't broken. I'm autistic. My sensory processing wiring is different and arguably broken. But I am not. I'm disabled. I can overcome the broken parts that result in my disability with support.
mapontosevenths
Some autistic people have to wear helmets and spend all day rocking back and forth eating anything they find in the carpet. The are unable to care for themselves and depend fully on others.
These people are not operating within the nominal range of human behavior that might be classified as "functional."
Only 20-30% of adult Autistics can even hold a job. Not a 'good' job, mind you, ANY job.
hoppp
90% of autistics are undiagnosed and work.
forestrywat
I think it's less than this. Perhaps 25%-40%. But highly variable based on socioeconomic status.
But the parent post is also wrong. Statistics vary, but employment among autistic people is as high as 58% in the US (which shouldnt be surprising, given that many autistic folks have no diminishment of iq).
So, definitely huge unemployment rate, but not so dire are the gp suggests.
mapontosevenths
I think I know the study you mean. That misrepresents it.
It says that in the USA (numbers are much worse internationally) :
* 58% had EVER held a paid job since leaving high school.
* About 42% had never worked for pay.
* Nearly 80% of those who worked were working part-time.
* Only about 21% had worked full-time in their current/most recent job.
I kind of thought that the fact I provided a number at all implied that it referred to the diagnosed, but the point that we can't know what we don't know is fair.
Still, my point stands. Most people who have it badly enough to get diagnosed can't hold jobs. Autism isn't some quirky personality trait that makes you a special cool kid on Tik-tok. It's a government recognized disability.
forestrywat
I'm dx'd level 2 and have a job. I think your stats are out of date. Yes, unemployment is high in the autistic community. But it's not to the degree you suggest.
mapontosevenths
> I'm dx'd level 2 and have a job.
Me too, but you and are very lucky.
In my case I have uneven capabilities, but my worst functions are still average and my best are very high. It's far more common for the best capabilities to be average and the worst to be far below. It's like one of those character creation screens in a game where you get to distribute skill points and someone hit 'random'. I got lucky and there were plenty of points to distribute randomly. Most seem to have had fewer to start with.
> I think your stats are out of date.
I looked it up before I made that post yesterday. It's pretty current, unfortunately. There is a ton of variation regionally, and there are different definitions, etc... Like all statistics it's more complicated than the headline, but the TLDR is that globally the diagnosed adult population averages around that number and it's literally one of the worst forms of disability to have as far as employment goes.
That study suggests that 65% of autistic individuals are undiagnosed. The 90% is only for middle-aged and older.
Skimming a couple (due to time constraints) of the sources mentioned in the study, one source [1] mention that "3 in 10 autistic people of working age are in employment", and the other [2] that "approximately 50% fail to achieve independence in their living status, employment, and close relationships"
It doesn't seem to support the claim that "90% of autistics are undiagnosed and work".
87.93% of statistics are completely made up on the spot.
DoctorOetker
107.2 % of statistics are undiagnosed
inigyou
You can't spell undiagnosed without unaided song.
Or gonad undies.
nick__m
There a point on the spectrum where someone cannot function without supervised housing and another one where you have non verbal autistic folks.
But I agree broken is not the right word for those poor folks because they were never functional to begin with!
wredcoll
We need some word and "differently abled" is just silly.
Being blind is a problem. It's not a moral judgment, you aren't less of a person, but you aren't going to be driving any time soon.
forestrywat
Disabled is the word. Not broken. Not differently abled. We have a perfectly functional word for this.
raducu
Nobody said they were, but broken in terms of neurotypical circuitry, yes
DoctorOetker
From the language of the paper, replace the commentor's "broken" with "mutant type" instead of unaffected "wild type"
kelseyfrog
Brave to say on one of the most autistic web forums that autistic people have something that's broken :|
SubiculumCode
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.
djaro
I mean, it's classified as a disability for a good reason.
I would guess that even if this platform has more autistic people due to being tech focused, autistic tech nerds and programmers are on the extreme end of high-functioning. Many low-functioning autistic people will never be able to have a job or live by themselves.
This is the same issue as high-functioning ADHD'ers saying "ADHD is my superpower", meanwhile people with severe ADHD do significantly worse than the general population in basically any metric, up to having a lower life expectancy.
This isnt to say its morally bad, theres nothing wrong with being autistic or having ADHD, but it is a disability. Just like someone who's deaf can live a totally happy life but still be disabled because they are not able to hear, someone with autism is disabled because they are not able to process social cues at the same speed, even if they are a great person and have a good life.
forestrywat
"Have a disability" and "broken" are not synonyms.
There's no judgement or moralizing in having a disability. Autism and ADHD like you mentioned are disabilities.
But the people who have them are not broken. Having a disability means some part of your life is more difficult. But that's very very different from you as a person are broken.
For example, if you can fix the environment and the person can now function equally to someone without a disability, then maybe it's the environment that's broken. If you can fix the social expectation and suddenly the person can function equally, then maybe the society is broken. Even if you cannot accommodate the person's needs, insinuating they are broken is not a great framing -- it creates a sense of pity rather than constructively looking at means to support them.
hoppp
What is strange about the disability is when neurotypicals attack autists. It takes less then 1 second for the negative bias to trigger.
If you see a person without legs, do you tell him he is a piece of shit because he can't run? So why harass autistic people?
switchbak
That's just people though, if you walk around with a scar on your head you'll see lots of knee-jerk immediate reactions. Some people are able to mediate those initial reactions and be kind, others just go with it and treat people poorly. Yes - some people are a'holes, and treat those without legs poorly.
The same is true of basically anyone that doesn't fit into what you typically see - there's always some people that will treat them poorly. It's unfortunate, but was probably adaptive during our evolution, and something we just have to deal with today.
aleph_minus_one
> If you see a person without legs, do you tell him he is a piece of shit because he can't run? So why harass autistic people?
If you have not yet realized it, here is a black pill for you: most people are deeply manipulative and bullying basically all the time. For example nearly all social rules that are commonly accepted in society are basically about which kinds of manipulations and bullying of other people are accepted by most people vs not.
With this in mind, the answer to your question
> So why harass autistic people?
is trivial: because it is currently socially mostly accepted.
wredcoll
> If you have not yet realized it, here is a black pill for you: most people are deeply manipulative and bullying basically all the time. For example nearly all social rules that are commonly accepted in society are basically about which kinds of manipulations and bullying of other people are accepted by most people vs not.
This is, in fact, not true.
hoppp
Yeah I agree. I think autists pretty much live in a dystopia.
They have to hide themselves because it's socially acceptable to harass them.
Their experience of the world is a disorder "to be cured"
If the future is here but not evenly distributed then the dystopia is here but not everyone lives in it. Some maintain it.
wredcoll
You went from "Neurotypical Peers are Less Willing to Interact with Those with Autism based on Thin Slice Judgments" to "refuse to interact with autists".
What exactly are we doing here?
hoppp
You are right, thats not what I should have written there.
hypfer
> For example nearly all social rules that are commonly accepted in society are basically about which kinds of manipulations and bullying of other people are accepted by most people vs not.
Can you elaborate on that?
inigyou
Name a social rule
hoppp
Unspoken rules have no name, they are learned implicitly
inigyou
State a social rule
nick__m
What else but pity should I feel toward non verbal autistic people?
kelseyfrog
Compassion?
forestrywat
Love? Affection? Friendship? Camaraderie? Care?
All the stuff you feel towards any other human?
wredcoll
> Have a disability" and "broken" are not synonyms
They really are. Like, you can alter the environment all you want but someone who needs glasses to see has broken eyes. Is it super common and do we have a cure? Yes and yes, but it's still, you know, not working. Disabled. Busted. Broken. Whichever word you pick isn't going to change the reality.
forestrywat
"That person is disabled" and "that person is broken" fundamentally are different. You are supposed to fix broken things. We don't fix disabilities. We can support them, treat them, assist them.
Yes, having a disability is hard. But the person is not broken.
wredcoll
> We don't fix disabilities
What? Why not?
forestrywat
Some we can and do. But many are not things that can be.
seanhandley
It depends, and that’s the point.
It’s such a wide concept. Essentially it boils down to how a brain processes sensory information and at what point it becomes overwhelmed.
We all have tolerances set at different gauges. It’s a disability if it’s at odds with the environment a person finds themselves in.
iinnPP
The problem is assuming the social cues are important at this point in evolution.
I'd say the opposite is true, frankly. I'm more worried about people's inability to follow simple instructions, like making a hamburger correctly.
hoppp
Social cues are important for reproduction. An autist guy might not notice when girls are attracted to him. So the chances of reproduction are lower.
inigyou
As an autistic man, I'm still not convinced women are attracted to men. At all.
krapp
This isn't /g/ what are you talking about?
anotherevan
“In an ideal world the scientist should find a method to prevent the most severe forms of autism but allow the milder forms to survive. After all, the really social people did not invent the first stone spear. It was probably invented by an Aspie who chipped away at rocks while the other people socialized around the campfire. Without autism traits we might still be living in caves.”
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.
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."
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.
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.
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.
Yes, it is: https://www.autismspeaks.org/autism-diagnostic-criteria-dsm-...
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).
And you know that they're "just" the latter, and not autistic, because? They don't look like the Rain man?
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.
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.
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.
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.
This requires some citation or justification.
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?
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.
[0] https://en.wikipedia.org/wiki/Pleiotropy
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.
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.
We already do treat it as the latter. The medical definition of autism is basically just any neurodevelopmental disorder that isn’t ADHD.
"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...?
That's not really true. Not to mention the very TFA, and the research that led to papers like it, is based on the opposite.
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!
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.
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.
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.
Woosh.. they are describing your mindset. Writing off 98% of the population as potential friends or lovers.
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.
Check yourself over for ableist pity.
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 $thing?"
Not when "$thing" IS A GROUP OF PEOPLE.
> Moreover, quite literally all my friends are also autspec and would never interface with someone who isn't"
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.
Lust and control are perhaps the two worst reasons to have a relationship.
In the end, maybe we are just all unique individuals with our character sliders set in various forms.
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.
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.
What's even the point of having a general diagnosis umbrella, if the symptoms are different?
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.
Even more, what is considered "positive impact" changes over time, so what was "crazy" 50 years ago, might be normal or even recommend now.
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 :)
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.
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.
The fact that they don't is why diagnostic tests exist and work.
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.
Same with IQ, if everyone is 150IQ, then everyone is still 100IQ, as per the definition, so "normal".
Divergence can only be mentioned when talking a base value to diverge from. What if neurotypicals are actually the neurodivergent ones?
That would need them to be the minority, which they are not.
Same way sight is not the special case, blindness is.
"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.
For ASD 3 and 2 it's even easier to see it's not "everyone".
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).
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!
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.
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.
[1] https://pmc.ncbi.nlm.nih.gov/articles/PMC8801875/
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.
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.
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!
> general cognitive decline
According to whom? The Flynn effect famously says the opposite: https://en.wikipedia.org/wiki/Flynn_effect
as we built better telescopes, we found more stars
like all things in life, it's not the only variable. but better recognition is absolutely a factor.
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.
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 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'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.
https://www.factcheck.org/2026/08/trump-and-rfk-jr-repeat-fa...
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. :-)
In toto, the conclusion of the paper:
> Together, these findings define a dual-layered model of molecular convergence in ASD: convergence through shared interaction networks in the wild-type state and convergence through recurrent functional consequences of interaction rewiring in the mutant state. More broadly, this work establishes a scalable framework for systematic interrogation of the autism proteome, enables prioritization of druggable protein interfaces, and provides a rational foundation for precision therapeutic strategies aimed at restoring neurodevelopmental trajectories.
I have no grounding here. Does anyone want to have a go at teasing the meaning out?
Instead, evidence has been growing that epistasis, the nonlinear interaction between genes and other genomic regions, predominates in explanations of most phenotypes.
What this paper does is show where upstream of the genome various combinations of mutations can interact to cause damage during development, thus leading to the phenotype. Rather than correcting a particular mutation, or targeting drugs to their protein products, we may find downstream protein-protein interactions that are strong drivers of the phenotype, and hopefully find ways to prevent/reverse these effects.
It hopefully gives hints which will be tested,better understood, and show actual mechanisms in humans. But probably not for years.
Patient: What's the good news?
Dr: We have a two step treatment to improve your social-emotional life.
Patient: What's the bad news?
Dr: The first step is, we have to turn you into a frog...
His mother nearly bankrupted herself paying for private school for kids on the spectrum. His parents sued the local school system because they didn't have any teachers who had any skill with autistic children. couldn't protect him from bullying and couldn't or wouldn't follow the IEP. (Note: this is one of those events that ruin retirement plans). The state claims to have resources for my partner and her child, but when they try to get help, the state says it didn't realize she would need that much help.
Then there is the never-ending struggle to get appropriate psychiatric and psychological help for him, and if you think it's hard to find a psychiatrist for ordinary mental illnesses, finding someone who knows how to deal with kids on the spectrum is almost impossible.
His disability has had a negative impact on my relationship with his mother. As she has to make room for her child's emotional outbursts, I make room for my partner's angst about having a child who will never function on his own. There is a big loss of day-to-day intimacy because you never know when you will have to put up an emotional barrier against his behavior.
yea, in my eyes, that counts as broken
I suspect some who say they like autistic traits, mean "level 1" on the ASD.
May I ask if this child is level 2 or level 3 ASD? I'm imagining it is quite a different reality with level 1 vs level 2/3.
https://www.autismspeaks.org/levels-of-autism
My kid is truly high functioning. Only professionals tag her immediately. For everyone else it takes some long term intimate interaction to realize something is wrong. Any autistic adult who says this is great is coping. I have talked to too many high functioning autistic women and there only seem to be two camp: lots of mental health issues with possible commitments or intense treatment that their parents poured so much money into. And never of those is okay or what I'd wish on a kid. I didn't even know it was possible for a 7 year old to be suicidal without a major life event and apparently this is just a thing with some high functioning autistic kids. This is not okay.
If it's any consolation, childhood years can be very tough around that age for autistic kids, but many of us find significant communities once we get online and around other autistic people our own age. Many of us go on to be very successful and happy adults once we find our niche.
Level 2 is "requires substantial support". This is where there are significant obvious impairments to daily life. You may not see emotional reciprocity, and peer relationships may be difficult. Sensory sensitivities may be more pronounced.
Level 3 is where people may be nonverbal or not always verbal. They may need significantly different communication systems like pictures. Aggressive outbursts, repetitive and narrow interests, self harm like head banging, shutdowns or meltdowns from moderate to mild stimulae are not uncommon. They will likely need supervision and may need support to consistently complete basic daily tasks like eating, toileting, etc.
I'm diagnosed level 2. What you are describing does not at all sound like level 1. Perhaps you've flipped the scale and meant somewhere between 2 and 3?
Do you have any biological children? This child is not yours, you made that sufficiently clear.
No, I do not have any children of my own. I am thankful for that because my ex-wife apparently was also autistic but not diagnosed until after divorce. On my maternal side of the family all of us kids inherited some form of severe depression through my brother was schizoaffective. I survived, found good treatment that left me feeling like myself with a clear mind. My brother on the other hand was tortured by his demons and ended up taking his life a couple of years ago.
Not having kids was a conscious decision because I didn't want to take a chance of spreading the family curse to the next generation
GP, you don’t have to do it.
I’d much rather be alone forever than treat another human being as a mere obstacle to my happiness.
Separating would be significantly destructive / damaging on both a personal and financial levels.
That said, I entered this relationship without fully understanding the impact of an autistic child. I would not condemn anyone who refused to be in a relationship if the other person had an autistic child.
Let me correct that for you,
> I would not condemn anyone who refused to be in a relationship if the other person had a child.
Being a step parent is one of the most difficult things a person can do.
If you can’t or don’t want to do it that’s fine.
From my admittedly limited experience, the parent and child have relationship that will keep you on the outside even if the family has made a conscious choice to include you as a step parent. I have made a conscious choice to be okay with being on the outside.
My deepest relationship and commitment is with my partner. Everything else is secondary... except maybe watering the plants in the garden during a drought.
You have 2 options.
Stop making so many harmful assumptions about your partners child. Theirs a good chance he’s just weird and he’ll grow out of it, but you’re not exactly helping here.
Hell, to be honest I was weird as shit as a kid until my dad kicked me out and then I matured real quick.
If I had to guess my issue is that I’m essentially half asleep most of the time unless I have a Red Bull or 2.
Or you can always just leave.
Right now your post reads like ; “This annoying kid is messing up my relationship with his mom, I’m the victim here”
I’d venture to say all kids are annoying and if you can’t deal with that date someone without kids.
This isnt a moral judgement, theres nothing wrong with being disabled, but it remaims a disability that many people struggle due to.
As a comparison, if you put a bonobo with chimps the bonobo will be severely disabled socially, but it won't be when compared to other bonobos.
The fact that autists can communicate with each other does not fit typical models of disability. A blind person should be blind to another blind person.
The person has a disability. Part of the person may be broken, but the person isn't broken. I'm autistic. My sensory processing wiring is different and arguably broken. But I am not. I'm disabled. I can overcome the broken parts that result in my disability with support.
These people are not operating within the nominal range of human behavior that might be classified as "functional."
Only 20-30% of adult Autistics can even hold a job. Not a 'good' job, mind you, ANY job.
But the parent post is also wrong. Statistics vary, but employment among autistic people is as high as 58% in the US (which shouldnt be surprising, given that many autistic folks have no diminishment of iq).
So, definitely huge unemployment rate, but not so dire are the gp suggests.
It says that in the USA (numbers are much worse internationally) :
* 58% had EVER held a paid job since leaving high school.
* About 42% had never worked for pay.
* Nearly 80% of those who worked were working part-time.
* Only about 21% had worked full-time in their current/most recent job.
* 19% had ever lived away from home independently
[0] https://drexel.edu/autisminstitute/news-events/news/2015/Apr...
Still, my point stands. Most people who have it badly enough to get diagnosed can't hold jobs. Autism isn't some quirky personality trait that makes you a special cool kid on Tik-tok. It's a government recognized disability.
Me too, but you and are very lucky.
In my case I have uneven capabilities, but my worst functions are still average and my best are very high. It's far more common for the best capabilities to be average and the worst to be far below. It's like one of those character creation screens in a game where you get to distribute skill points and someone hit 'random'. I got lucky and there were plenty of points to distribute randomly. Most seem to have had fewer to start with.
> I think your stats are out of date.
I looked it up before I made that post yesterday. It's pretty current, unfortunately. There is a ton of variation regionally, and there are different definitions, etc... Like all statistics it's more complicated than the headline, but the TLDR is that globally the diagnosed adult population averages around that number and it's literally one of the worst forms of disability to have as far as employment goes.
See:
* https://link.springer.com/article/10.1007/s10803-025-07139-6
* https://link.springer.com/article/10.1007/s10803-026-07467-1
* https://pmc.ncbi.nlm.nih.gov/articles/PMC11861060/
* https://www.gov.uk/government/publications/the-buckland-revi...
In Uk they made studies about this: https://www.kcl.ac.uk/news/up-to-90-of-middle-aged-and-older...
Skimming a couple (due to time constraints) of the sources mentioned in the study, one source [1] mention that "3 in 10 autistic people of working age are in employment", and the other [2] that "approximately 50% fail to achieve independence in their living status, employment, and close relationships"
It doesn't seem to support the claim that "90% of autistics are undiagnosed and work".
[1] https://www.gov.uk/government/publications/the-buckland-revi... [2] https://link.springer.com/article/10.1007/s10803-020-04763-2
Or gonad undies.
But I agree broken is not the right word for those poor folks because they were never functional to begin with!
Being blind is a problem. It's not a moral judgment, you aren't less of a person, but you aren't going to be driving any time soon.
I would guess that even if this platform has more autistic people due to being tech focused, autistic tech nerds and programmers are on the extreme end of high-functioning. Many low-functioning autistic people will never be able to have a job or live by themselves.
This is the same issue as high-functioning ADHD'ers saying "ADHD is my superpower", meanwhile people with severe ADHD do significantly worse than the general population in basically any metric, up to having a lower life expectancy.
This isnt to say its morally bad, theres nothing wrong with being autistic or having ADHD, but it is a disability. Just like someone who's deaf can live a totally happy life but still be disabled because they are not able to hear, someone with autism is disabled because they are not able to process social cues at the same speed, even if they are a great person and have a good life.
There's no judgement or moralizing in having a disability. Autism and ADHD like you mentioned are disabilities.
But the people who have them are not broken. Having a disability means some part of your life is more difficult. But that's very very different from you as a person are broken.
For example, if you can fix the environment and the person can now function equally to someone without a disability, then maybe it's the environment that's broken. If you can fix the social expectation and suddenly the person can function equally, then maybe the society is broken. Even if you cannot accommodate the person's needs, insinuating they are broken is not a great framing -- it creates a sense of pity rather than constructively looking at means to support them.
If you see a person without legs, do you tell him he is a piece of shit because he can't run? So why harass autistic people?
The same is true of basically anyone that doesn't fit into what you typically see - there's always some people that will treat them poorly. It's unfortunate, but was probably adaptive during our evolution, and something we just have to deal with today.
If you have not yet realized it, here is a black pill for you: most people are deeply manipulative and bullying basically all the time. For example nearly all social rules that are commonly accepted in society are basically about which kinds of manipulations and bullying of other people are accepted by most people vs not.
With this in mind, the answer to your question
> So why harass autistic people?
is trivial: because it is currently socially mostly accepted.
This is, in fact, not true.
They have to hide themselves because it's socially acceptable to harass them.
It's been proven multiple times that neurotypicals refuse to interact with autists automatically https://www.nature.com/articles/srep40700
Their experience of the world is a disorder "to be cured"
If the future is here but not evenly distributed then the dystopia is here but not everyone lives in it. Some maintain it.
What exactly are we doing here?
Can you elaborate on that?
All the stuff you feel towards any other human?
They really are. Like, you can alter the environment all you want but someone who needs glasses to see has broken eyes. Is it super common and do we have a cure? Yes and yes, but it's still, you know, not working. Disabled. Busted. Broken. Whichever word you pick isn't going to change the reality.
Yes, having a disability is hard. But the person is not broken.
What? Why not?
It’s such a wide concept. Essentially it boils down to how a brain processes sensory information and at what point it becomes overwhelmed.
We all have tolerances set at different gauges. It’s a disability if it’s at odds with the environment a person finds themselves in.
I'd say the opposite is true, frankly. I'm more worried about people's inability to follow simple instructions, like making a hamburger correctly.
http://www.azquotes.com/quote/362838