18 ms·

Autism's Four Core Subtypes

141 points by domofutu 2y ago

greesil 2y ago
As someone with a close family member who is autistic, I am always bothered by the phrase "if you have met one person with autism, you have met one person with autism". Autism as a diagnostic classification is so broad that the non verbal are lumped in with those with rigidity behavior, when at least to me they seem like they should just have a different diagnosis. This is not just playing semantics if they're able to correlate against specific sets of genes. This work seems highly relevant, IMO
- Jensson 2y ago
  Merging autism with asperger went the exact opposite direction of where it needed to.
  - SpicyLemonZest 2y ago
    The reasons why the change was made (https://www.thetransmitter.org/spectrum/why-fold-asperger-syndrome-into-autism-spectrum-disorder-in-the-dsm-5 https://www.thetransmitter.org/spectrum/why-fold-asperger-sy...) still make sense to me. The autism spectrum is quite wide, and I'd 100% believe something meaningful coming from the source study, but the specific category of Asperger's was based on factors that don't seem to matter much and weren't being reliably evaluated.
  - NeuroCoder 2y ago
    The problem was that a diagnosis of Asperger's was unreliable and therefore useless. We definitely need to identify individuals within the diagnosis of autism spectrum disorder that can reliably be identified and benefit from specific interventions. However, Asperger's did not provide that.
    - throwawaymaths 2y ago
      The problem was that asperger was a problematic physician at best.
      - deleted 2y ago
        [deleted]
      - deleted 2y ago
        [deleted]
    - TeaBrain 2y ago
      I'd argue that having the descriptor of "asperger's" is much more useful than simply having a blanket descriptor of "autism". Low functioning people who are described as having autism, have very little in common with most of the high functioning type.
      - seba_dos1 2y ago
        > have very little in common [citation needed]
        TeaBrain 2y ago
        Do you really need a citation that a non-verbal, uncommunicative and non-independent "non-functional" traditional autism case is different from what would often be referred to as "Asperger's", which is common amongst software developers? Or take people like Elon Musk, Bill Gross and David Byrne, who all claim to have Asperger's, Bill and David having been formally diagnosed. These people, who achieved great success, and went through most of their lives without needing a diagnosis, are clearly nothing like the non-functional patients with clearer traditional cases of autism.
        seba_dos1 2y ago
        First you claimed that they "have very little in common", and now merely that it "is different"... although in the next sentence you go back to "clearly nothing like"?? You seem quite undecided about what you actually want to say. They're obviously "different", but there's plenty of reasons to believe that they have a lot in common, so going against established science should require some citations.
  - CalRobert 2y ago
    It almost feels like a cynical ploy to nerf autism so insurance companies don't have to pay for anything. There's a huge, huge, difference between "I'm awkward" and "my kid cannot talk".
- jtsiskin 2y ago
  The expression you quoted is completely agreeing with you! It’s a play on the expected idiomatic ending “then you have met everyone with autism”, pointing out that the diagnosis is broad and everyone is different
  - greesil 2y ago
    Why even have the word autism? It's almost meaningless.
    - Spivak 2y ago
      "hot" is still a meaningful word even though 100 F°, 1000 F°, and 1,000,000 F° aren't comparable at all. They're nonetheless still all experiencing heat.
      - blargey 2y ago
        Yes, if we could pin it to a linear scale of Degrees Autistic (Farenheit), that could be estimated with reasonable precision for all day-to-day relevant values by feeling the nearby air on your skin, nobody would complain about "Austism" being too broad.
        Spivak 2y ago
        Am I missing something you can though. That's actually kinda how it is. I detest the phrase "high functioning" but that group is roughly your outside temperatures. You'll notice the difference between 30° and 80° and the same temperature 72° can feel different in the summer, winter, before it rains, when it's humid/dry but is still the same intensity. Then there's 1000° degrees where (and this is someone I know) he stripped naked, ran through downtown, and yelled at random restaurant workers calling them fascists for not lettting him in and then got into a fight with the cops. I think broadly that's what the "spectrum" characterization is meant to convey. And you should expect this, in code there's one happy path and a million different ways to err, some more catastrophic than others.
        2y ago
- saghm 2y ago
  > Autism as a diagnostic classification is so broad that the non verbal are lumped in with those with rigidity behavior, when at least to me they seem like they should just have a different diagnosis. As someone with a diagnosis, I've gotten into the habit of referring to myself as "on the spectrum" when discussing with people rather than using a specific term. It helps emphasize the fact that there's a range of potential manifestations, and (hopefully) helps remind people that their expectations based on past experience might not fit my behavior exactly.
- kelseyfrog 2y ago
  To me the point of the phrase was to counter prejudice and gatekeeping. "You can't be autistic because I know another autistic person who does the opposite," is a sentiment that autistic people in my life have encountered. It doesn't extend to researchers because (arguably) researchers aren't in the business of telling people that because they are uncomfortable with behaviors associated with autism.
93po 2y ago
sort of off topic, but does anyone else have the experience of consistently having bad interactions in real life any time autism is discussed? like the reasons are so varied but it's so consistently not great. i feel like it's rooted in a "i know autism better than you and i feel threatened anytime something is expressed that differs from my own opinion/experience with it". and sometimes people are offended with any opinion or anecdote or experience expressed on it at all in a "don't mansplain autism to me" sort of way (i'm not a man, just to be clear, and obv mansplaining isnt unique to men). not saying this to be unkind or mean to anyone. it just feels like such a super touchy topic. i started completely not engaging in conversation around it at all and pretending like i don't know anything about it.
- uncletaco 2y ago
  No. The greatest interaction I had was when a kid didn’t hold a door for me and his mom said “I’m sorry he has Asperger’s and it’s a little heavy on the ass.” Then we ended up in the same waiting room for a while and she talked about accommodating her son and how they managed it. What was really interesting is the kid looked like it was the first time he heard his mom talk to someone else about it and him and I could tell he was embarrassed but really loving her that moment.
  - cuttysnark 2y ago
    > it's a little heavy on the ass I hadn't heard this idiom before so I looked it up and I couldn't find anything relevant. What does this phrase mean in this context?
    - School-Cotton 2y ago
      The first syllable of Asperger sounds like “ass”, and the mom was making a pun based on that fact (pointing out that her son’s Asperger’s made him an ass).
      - cuttysnark 2y ago
        Saying it out loud made it click. Thank you.
kayo_20211030 2y ago
I spend no time considering genetic variations, or genetic correlations, I deal with what's in front of me. This study is _almost_ backcasting; it might improve the model, but, not the outcome. Maybe the study is fine and valuable, and maybe it'll lead to something. Maybe? But, it does nothing in the present. Not in the here and now.
- deleted 2y ago
  [deleted]
- tapland 2y ago
  If we can find specific subtypes it would be extremely helpful. You can’t expect everything to be presented only with a complete solution.
  - elcritch 2y ago
    Exactly, lumping in all autism into the same overall category when there could be very different underlying biological mechanisms would potentially block progress. For example, a medication that could work wonders on one subtype by affecting a biological mechanism unique to that subtype could be found not to meet clinical standards because it didn't work on the other subtypes or even make them worse. In other words, it's a confounding variable which needs to be discovered and characterized after which it could play significant role in advancing treatments and understanding.
    - kayo_20211030 2y ago
      That is a fair point, or two. My frustration with studies of this type is that they provide very little guidance with respect to how to prevent a condition, how to fix a condition, or how to manage a condition. Nor, do they give me much hope that even a long way down the road will they do so. My focus, because of a family situation, is management. Whether there's one type, four types, or more than a thousand types is, to me, immaterial. Even if this study was a complete genetic explanation of the mechanism, it wouldn't help, because I don't work with genes, I work with gene expressions, manifestations and symptoms.
geor9e 2y ago
Reminds me a bit of the MBTI personality test, where they make up 4 types of question to arbitrarily split the population, so 2x2x2x2 = 16 subtypes. It's true by it's own definition. Which is fine, but are these particular arbitrary boundaries useful? Perhaps. Could the splitting lines have been just as useful in different arbitrary place. Perhaps. A lot of people who take the MBTI find they're on the boundaries flip-flopping into a few different pigeonholes depending on different times they take the test. So it's important to let people know they can be in multiple buckets (are a bit in all of them), and take a little advice from each community. For this one they split autism into 3 groups (core,social,developmental) then split core into (mild,severe), to make 4 total.
- w23b07d28 2y ago
  It's not true by its own definition, it's just that if you soak it in, you will actually start to see the patterns behind it among people. It's still going to be pseudoscience because there are a lot of variables, but it often works and even more often people don't know what to look at or what to put together, because you'll find really A LOT of articles on the Internet that try to run mechanics on certain types without understanding what or why. I assume that if you want to put this together more precisely, there is a lot of scope here. And lest it be said that I'm talking out of turn myself, I only became interested in this whole MBTI thing because an ENFP once told me I was an INTP after a few hours of talking about silly things. That's exactly what these tests once told me. Of course, these are still anecdotes, but we are sciency. Is it a problem that someone has catalogued autism in this way? Is it a question of lack of precision or bad direction? Am I asking the wrong questions?
  - kijin 2y ago
    It's true by definition because MBTI splits people into two groups, four times in a row. Everyone is going to fall into one bucket or another, just as the last 4 bits of any integer is going to be one of 16. The question is whether the distinction has any practical uses. My guess as to why MBTI is more popular than other equally valid personality tests is that the splits are defined in such a way as to capture a few traits that people find the most irksome in their everyday relationships. You want to take a rational approach, but your SO gets all emotional? Well, that's a T vs. F thing. It might not be medically meaningful, but IMO it does help us appreciate that other people's minds might be wired differently. Not wrong, just different. Business idea: AI companions with custom personality out of the box. Choose the MBTI type you want!
NeuroCoder 2y ago
It's important to note that models that use genome wide association analysis have demonstrated extremely high predictive value across large cohorts sharing geography but are very poor when applied on a geographically distinct population. This suggests that although autism has a strong association with genetics, neurophysiology unique to autism develops in the context of highly complex genetic associations that are likely subject genetic drift across population and time. When we have a a few genes of interest that are important in screening for a rare disease we accept that novel variants will continue to be identified throughout the years as more people are screened. Autism as a prevalence of 1-3%. I don't remember the exact number but I think something like 30% of autism diagnoses are believed to be secondary to fairly severe but distinct genetic syndromes. So when we talk about a subgroup of autism without clear etiology we are looking at a fraction of 70% of 3% of the population. We're approaching rare disease territory when we talk about subgroups within autism. A rare disease with a highly complex genetic association across the genome that is subject to genetic drift is not a good candidate for genetic screening. All that being said, studies like this may provide valuable insight into what microbiology is being influenced, even if we can't reliably predict which variants are responsible. Id love to see future investigations relate genetics to biomarkers instead of behavioral tests in autism.
- ruthmarx 2y ago
  > This suggests that although autism has a strong association with genetics, neurophysiology unique to autism develops in the context of highly complex genetic associations that are likely subject genetic drift across population and time. Wouldn't it be more likely local culture and brain plasticity are the cause of these differences?
  - NeuroCoder 2y ago
    Autism can be reliably diagnosed at 2.5 years of age, so we probably aren't looking at a strong cultural bias in in how kids are presenting with autism. These models using data from countries where the healthcare systems provides support for appropriate screening and testing further minimizing bias due to culture. In other words, one would not expect these models to be overfit to phenotypically distinct representations of autism as a result of culture. Variations in brain plasticity have been suspected of playing a role in autism for a long time. Brain plasticity may vary by region, throughout development, and at a molecular level. If population dependent variations in plasticity are indeed responsible for the lack of model generalizability, then the next step would be to do as I previously suggested. That is, identify where the many genome wide variations converge on biomarkers driving differences in plasticity.
skissane 2y ago
I’m sceptical of research based on a single diagnostic label - such research assumes that the boundary between that specific diagnosis, other diagnoses, and no diagnosis, is valid - while (at least some) research which tests that assumption rather than making it, by including cohorts with other diagnoses and also no diagnosis, ends up challenging that assumption - e.g. https://www.nature.com/articles/s41398-019-0631-2 https://www.nature.com/articles/s41398-019-0631-2 - but if the challenge is correct, how much validity is there in research which relies on it?
- kelseyfrog 2y ago
  As you should be. When we go spelunking for evidence of differences we're engaging in the reinforcement of social categories. When evidence of differences is found it becomes the justification for the category's existence. If that seems backwards and circular in logic, then you would be correct. The same interplay exists between sex and gender and well as a host of other categories.
tomrod 2y ago
Hierarchical clustering applied to brain scans. As a clustering output, it's useful to conceptualize but not definitive of what one can expect from behavior nor development. If I am not mistaken, this is the original paper.[0] [0] https://www.nature.com/articles/s41593-023-01259-x https://www.nature.com/articles/s41593-023-01259-x
- alilleybrinker 2y ago
  You are mistaken. The work described here is based on this paper, currently published as a preprint: https://www.medrxiv.org/content/10.1101/2024.08.15.24312078v1.full https://www.medrxiv.org/content/10.1101/2024.08.15.24312078v... This preprint is the first link in the article.
mock-possum 2y ago
Four classes, to wit: > We identified one class … referred to as Social/Behavioral … that demonstrated high scores (higher difficulties) across core autism categories of social/communication and restricted/repetitive behaviors, as well as disruptive behaviors, attention, and anxiety, and no reports of developmental delays > A second class … called Mixed ASD with DD … shows more nuanced presentation within certain categories, with some features enriched and some depleted among the restricted/repetitive behavior, social/communication, and self-injury categories, and an overall strong enrichment of developmental delays > The last two classes scored consistently lower (fewer difficulties) and consistently higher than other autistic children across all seven categories. These two classes were termed Moderate Challenges and Broadly Impacted, respectively.
faeriechangling 2y ago
Glad they're working away at this. I've stopped identifying as autistic despite having a dx because I was tired of the way it got me treated worse by the general public who presume I'm far more incompetent than I actually am and medical practitioners who do the same. Last time I sought help for a totally unrelated issue they asked if I had any prior dx and I was foolishly honest so I was subsequently referred to a day program for unemployed people with severe mental health issues. I'm full time employed so I couldn't even attend. This is the outcome of treating "autistics" as a monolith. After the DSM-IV they decided to consolidate 3 different autism spectrum diagnosis's into one. They said this was scientific, but IMHO, this was done so everybody with Aspergers or PDD-NOS to be eligible for the higher funding levels those categorised as "Autistic" got. Which has done nothing but take away funding from severely disabled people while causing more mildly impaired people to receive inappropriate and condescending treatment, I am fucking eligible for a full time day program where a social worker will be paid to chaperone me because I'm just so fucking needy that's just what needs to be done. This change was great for the psychiatrists through, who simply received more money as a result of making this diagnostic change, nice conflict of interest there. As a society, we decided having certain labels of disability entitled you to special legal rights and certain financial benefits. Where I live any autism diagnosis, no matter how severe or mild, gets you a flat amount of money, whereas other diagnosis's even if the condition is more severe than autism get nothing. What do you think parents, who can shop around from a variety of private psychiatrists, looking to access therapy for their child that autistic kids also get do? So you might get a kid with ADHD or Anxiety or some speech disorder, and not getting an autism DX, but getting treated like a moderately impaired autistic. I honestly loathe, absolutely loathe the status quo of autism diagnosis and treatment and am happy for any change to be made that splits the diagnosis up because it creates at least a hope of "Severe autism" receiving higher funding levels than the rest, and "autism light" starting to get similar funding levels to other disabilities so there isn't a perverse incentive. I have not made an online comment on any website in 1 month but this inspired me.
- __turbobrew__ 2y ago
  This may be spicy, but I wonder if autism has a higher rate of occurrence in upper middle class homes which is why it has got so much more attention and funding than more serious illnesses as you say.
hcfman 2y ago
I’m quite sick of all the studies that only talk about problems. If a side effect of some autistic conditions can mean an advantage their area of deep focus can this not also be celebrated ? Often even people with deep autism with associated problems achieve extraordinary things through their focus and persistence. Otherwise all is presented is negative with no positive. I’d quite like to be seen also from the positive side when it’s present thank you. I’m happy that I’m not neurotypical and please can’t they cancel trying to cure this. Sounds all too much like eugenics.
- dyauspitr 2y ago
  Try telling that to my neighbor whose kid constantly throws violent tantrums multiple times a week. It’s very unfortunate, it happened to some very nice people.
- faeriechangling 2y ago
  Autism is literally medically defined as a series of deficits, latest criteria = DSM-V-TR https://www.reddit.com/r/aspergirls/comments/th9hku/dsm5tr_new_diagnostic_criteria_for_autism/ https://www.reddit.com/r/aspergirls/comments/th9hku/dsm5tr_n... The only positive thing said about autism in that entire gigantic write-up is "Special interests may be a source of pleasure and motivation and provide avenues for education and employment later in life" Why would doctors treat autism as being anything but negative with no positive when Autism is literally defined in that way? Of course, people since Leo Kanner and Hans Aspergers noted Autistics having extraordinary abilities, and people are vaguely aware of this, but doctors hold autistics in worse contempt than the general population mostly because you can't bill insurance to treat a "difference" or get a study grant to research a "difference". So the system they're in forces them to treat autistics as contemptible and even in need of curing. Besides that, psychiatry is after all the study of mental illness and disorders, not of mental differences, so there's a bias just from training. Legal, UN definition, trying to cure a mental disorder is not eugenics. It is logically the same idea as eugenics though, the UN just didn't outlaw this idea since the mentally disordered were considered sufficiently inferior. Autistics can also be banned from sperm banks. There's nothing to be done really as a mere not neurotypical internet dweller. The inertia of the status quo is like a train and many people benefit from it. The only real choice you have is to call yourself something like "Not neurotypical" instead of "Autistic".
Madmac89 2y ago
25 years later, we’ve made zero progress. Sure, we have a broader floor of science and study created from 25 years of additional science. Its pretty simple, and we knew it then - until there are biologic markers and testing, we will not be able to bifuricate the phenotypes. Certainly we can chase this statistically - as Troanskaya et al. have done, and there is certainly validity to the statistical work and it contributes overall. But it doesn’t get to the core of the problem we face in continuing to use such a wildly broad and subjective diagnosis tool. Its no wonder those society has labeled neurodiverse are so upset - we’re throwing treatment modalities which are clearly not appropriate. We’ve known how - the problem needs directed science, not academic science. But Academia is resisting. Government is resisting. Frankly - science and professions are resisting. When founding the Mind Institute at UC Davis - Parents tried to convince academics to go this route. They even raised unheard of amounts of money. And were routinely ignored by the system. And here we are 25 years later. Best guess remains there are 5 to 7 major phenotypes - without even getting into the issues of severity. We haven’t even adequately surveyed the symptomology so we can correlated it to demographics, much less actual biological markers. We’re chasing the wrong things b/c no one is interested in doing the hard work to carve this problem into digestible and replicable. We need directed research to carve this problem up. There is an indisputable issue in the DX count going from 1:10000 to 1:50 - in our life times. Its not better diagnosis.
adultSwim 2y ago
Has anyone tried working with the datasets they relied on?

141 points by domofutu 2y ago

As someone with a close family member who is autistic, I am always bothered by the phrase "if you have met one person with autism, you have met one person with autism". Autism as a diagnostic classification is so broad that the non verbal are lumped in with those with rigidity behavior, when at least to me they seem like they should just have a different diagnosis. This is not just playing semantics if they're able to correlate against specific sets of genes. This work seems highly relevant, IMO

Jensson 2y ago
Merging autism with asperger went the exact opposite direction of where it needed to.
- SpicyLemonZest 2y ago
  The reasons why the change was made (https://www.thetransmitter.org/spectrum/why-fold-asperger-syndrome-into-autism-spectrum-disorder-in-the-dsm-5 https://www.thetransmitter.org/spectrum/why-fold-asperger-sy...) still make sense to me. The autism spectrum is quite wide, and I'd 100% believe something meaningful coming from the source study, but the specific category of Asperger's was based on factors that don't seem to matter much and weren't being reliably evaluated.
- NeuroCoder 2y ago
  The problem was that a diagnosis of Asperger's was unreliable and therefore useless. We definitely need to identify individuals within the diagnosis of autism spectrum disorder that can reliably be identified and benefit from specific interventions. However, Asperger's did not provide that.
  - throwawaymaths 2y ago
    The problem was that asperger was a problematic physician at best.
    - deleted 2y ago
      [deleted]
    - deleted 2y ago
      [deleted]
  - TeaBrain 2y ago
    I'd argue that having the descriptor of "asperger's" is much more useful than simply having a blanket descriptor of "autism". Low functioning people who are described as having autism, have very little in common with most of the high functioning type.
    - seba_dos1 2y ago
      > have very little in common [citation needed]
      - TeaBrain 2y ago
        Do you really need a citation that a non-verbal, uncommunicative and non-independent "non-functional" traditional autism case is different from what would often be referred to as "Asperger's", which is common amongst software developers? Or take people like Elon Musk, Bill Gross and David Byrne, who all claim to have Asperger's, Bill and David having been formally diagnosed. These people, who achieved great success, and went through most of their lives without needing a diagnosis, are clearly nothing like the non-functional patients with clearer traditional cases of autism.
        seba_dos1 2y ago
        First you claimed that they "have very little in common", and now merely that it "is different"... although in the next sentence you go back to "clearly nothing like"?? You seem quite undecided about what you actually want to say. They're obviously "different", but there's plenty of reasons to believe that they have a lot in common, so going against established science should require some citations.
- CalRobert 2y ago
  It almost feels like a cynical ploy to nerf autism so insurance companies don't have to pay for anything. There's a huge, huge, difference between "I'm awkward" and "my kid cannot talk".
jtsiskin 2y ago
The expression you quoted is completely agreeing with you! It’s a play on the expected idiomatic ending “then you have met everyone with autism”, pointing out that the diagnosis is broad and everyone is different
- greesil 2y ago
  Why even have the word autism? It's almost meaningless.
  - Spivak 2y ago
    "hot" is still a meaningful word even though 100 F°, 1000 F°, and 1,000,000 F° aren't comparable at all. They're nonetheless still all experiencing heat.
    - blargey 2y ago
      Yes, if we could pin it to a linear scale of Degrees Autistic (Farenheit), that could be estimated with reasonable precision for all day-to-day relevant values by feeling the nearby air on your skin, nobody would complain about "Austism" being too broad.
      - Spivak 2y ago
        Am I missing something you can though. That's actually kinda how it is. I detest the phrase "high functioning" but that group is roughly your outside temperatures. You'll notice the difference between 30° and 80° and the same temperature 72° can feel different in the summer, winter, before it rains, when it's humid/dry but is still the same intensity. Then there's 1000° degrees where (and this is someone I know) he stripped naked, ran through downtown, and yelled at random restaurant workers calling them fascists for not lettting him in and then got into a fight with the cops. I think broadly that's what the "spectrum" characterization is meant to convey. And you should expect this, in code there's one happy path and a million different ways to err, some more catastrophic than others.
      - 2y ago
saghm 2y ago
> Autism as a diagnostic classification is so broad that the non verbal are lumped in with those with rigidity behavior, when at least to me they seem like they should just have a different diagnosis. As someone with a diagnosis, I've gotten into the habit of referring to myself as "on the spectrum" when discussing with people rather than using a specific term. It helps emphasize the fact that there's a range of potential manifestations, and (hopefully) helps remind people that their expectations based on past experience might not fit my behavior exactly.
kelseyfrog 2y ago
To me the point of the phrase was to counter prejudice and gatekeeping. "You can't be autistic because I know another autistic person who does the opposite," is a sentiment that autistic people in my life have encountered. It doesn't extend to researchers because (arguably) researchers aren't in the business of telling people that because they are uncomfortable with behaviors associated with autism.

93po 2y ago

sort of off topic, but does anyone else have the experience of consistently having bad interactions in real life any time autism is discussed? like the reasons are so varied but it's so consistently not great. i feel like it's rooted in a "i know autism better than you and i feel threatened anytime something is expressed that differs from my own opinion/experience with it". and sometimes people are offended with any opinion or anecdote or experience expressed on it at all in a "don't mansplain autism to me" sort of way (i'm not a man, just to be clear, and obv mansplaining isnt unique to men). not saying this to be unkind or mean to anyone. it just feels like such a super touchy topic. i started completely not engaging in conversation around it at all and pretending like i don't know anything about it.

uncletaco 2y ago
No. The greatest interaction I had was when a kid didn’t hold a door for me and his mom said “I’m sorry he has Asperger’s and it’s a little heavy on the ass.” Then we ended up in the same waiting room for a while and she talked about accommodating her son and how they managed it. What was really interesting is the kid looked like it was the first time he heard his mom talk to someone else about it and him and I could tell he was embarrassed but really loving her that moment.
- cuttysnark 2y ago
  > it's a little heavy on the ass I hadn't heard this idiom before so I looked it up and I couldn't find anything relevant. What does this phrase mean in this context?
  - School-Cotton 2y ago
    The first syllable of Asperger sounds like “ass”, and the mom was making a pun based on that fact (pointing out that her son’s Asperger’s made him an ass).
    - cuttysnark 2y ago
      Saying it out loud made it click. Thank you.

kayo_20211030 2y ago

I spend no time considering genetic variations, or genetic correlations, I deal with what's in front of me. This study is _almost_ backcasting; it might improve the model, but, not the outcome. Maybe the study is fine and valuable, and maybe it'll lead to something. Maybe? But, it does nothing in the present. Not in the here and now.

deleted 2y ago
[deleted]
tapland 2y ago
If we can find specific subtypes it would be extremely helpful. You can’t expect everything to be presented only with a complete solution.
- elcritch 2y ago
  Exactly, lumping in all autism into the same overall category when there could be very different underlying biological mechanisms would potentially block progress. For example, a medication that could work wonders on one subtype by affecting a biological mechanism unique to that subtype could be found not to meet clinical standards because it didn't work on the other subtypes or even make them worse. In other words, it's a confounding variable which needs to be discovered and characterized after which it could play significant role in advancing treatments and understanding.
  - kayo_20211030 2y ago
    That is a fair point, or two. My frustration with studies of this type is that they provide very little guidance with respect to how to prevent a condition, how to fix a condition, or how to manage a condition. Nor, do they give me much hope that even a long way down the road will they do so. My focus, because of a family situation, is management. Whether there's one type, four types, or more than a thousand types is, to me, immaterial. Even if this study was a complete genetic explanation of the mechanism, it wouldn't help, because I don't work with genes, I work with gene expressions, manifestations and symptoms.

geor9e 2y ago

Reminds me a bit of the MBTI personality test, where they make up 4 types of question to arbitrarily split the population, so 2x2x2x2 = 16 subtypes. It's true by it's own definition. Which is fine, but are these particular arbitrary boundaries useful? Perhaps. Could the splitting lines have been just as useful in different arbitrary place. Perhaps. A lot of people who take the MBTI find they're on the boundaries flip-flopping into a few different pigeonholes depending on different times they take the test. So it's important to let people know they can be in multiple buckets (are a bit in all of them), and take a little advice from each community. For this one they split autism into 3 groups (core,social,developmental) then split core into (mild,severe), to make 4 total.

w23b07d28 2y ago
It's not true by its own definition, it's just that if you soak it in, you will actually start to see the patterns behind it among people. It's still going to be pseudoscience because there are a lot of variables, but it often works and even more often people don't know what to look at or what to put together, because you'll find really A LOT of articles on the Internet that try to run mechanics on certain types without understanding what or why. I assume that if you want to put this together more precisely, there is a lot of scope here. And lest it be said that I'm talking out of turn myself, I only became interested in this whole MBTI thing because an ENFP once told me I was an INTP after a few hours of talking about silly things. That's exactly what these tests once told me. Of course, these are still anecdotes, but we are sciency. Is it a problem that someone has catalogued autism in this way? Is it a question of lack of precision or bad direction? Am I asking the wrong questions?
- kijin 2y ago
  It's true by definition because MBTI splits people into two groups, four times in a row. Everyone is going to fall into one bucket or another, just as the last 4 bits of any integer is going to be one of 16. The question is whether the distinction has any practical uses. My guess as to why MBTI is more popular than other equally valid personality tests is that the splits are defined in such a way as to capture a few traits that people find the most irksome in their everyday relationships. You want to take a rational approach, but your SO gets all emotional? Well, that's a T vs. F thing. It might not be medically meaningful, but IMO it does help us appreciate that other people's minds might be wired differently. Not wrong, just different. Business idea: AI companions with custom personality out of the box. Choose the MBTI type you want!

NeuroCoder 2y ago

It's important to note that models that use genome wide association analysis have demonstrated extremely high predictive value across large cohorts sharing geography but are very poor when applied on a geographically distinct population. This suggests that although autism has a strong association with genetics, neurophysiology unique to autism develops in the context of highly complex genetic associations that are likely subject genetic drift across population and time. When we have a a few genes of interest that are important in screening for a rare disease we accept that novel variants will continue to be identified throughout the years as more people are screened. Autism as a prevalence of 1-3%. I don't remember the exact number but I think something like 30% of autism diagnoses are believed to be secondary to fairly severe but distinct genetic syndromes. So when we talk about a subgroup of autism without clear etiology we are looking at a fraction of 70% of 3% of the population. We're approaching rare disease territory when we talk about subgroups within autism. A rare disease with a highly complex genetic association across the genome that is subject to genetic drift is not a good candidate for genetic screening. All that being said, studies like this may provide valuable insight into what microbiology is being influenced, even if we can't reliably predict which variants are responsible. Id love to see future investigations relate genetics to biomarkers instead of behavioral tests in autism.

ruthmarx 2y ago
> This suggests that although autism has a strong association with genetics, neurophysiology unique to autism develops in the context of highly complex genetic associations that are likely subject genetic drift across population and time. Wouldn't it be more likely local culture and brain plasticity are the cause of these differences?
- NeuroCoder 2y ago
  Autism can be reliably diagnosed at 2.5 years of age, so we probably aren't looking at a strong cultural bias in in how kids are presenting with autism. These models using data from countries where the healthcare systems provides support for appropriate screening and testing further minimizing bias due to culture. In other words, one would not expect these models to be overfit to phenotypically distinct representations of autism as a result of culture. Variations in brain plasticity have been suspected of playing a role in autism for a long time. Brain plasticity may vary by region, throughout development, and at a molecular level. If population dependent variations in plasticity are indeed responsible for the lack of model generalizability, then the next step would be to do as I previously suggested. That is, identify where the many genome wide variations converge on biomarkers driving differences in plasticity.

skissane 2y ago

I’m sceptical of research based on a single diagnostic label - such research assumes that the boundary between that specific diagnosis, other diagnoses, and no diagnosis, is valid - while (at least some) research which tests that assumption rather than making it, by including cohorts with other diagnoses and also no diagnosis, ends up challenging that assumption - e.g. https://www.nature.com/articles/s41398-019-0631-2 https://www.nature.com/articles/s41398-019-0631-2 - but if the challenge is correct, how much validity is there in research which relies on it?

kelseyfrog 2y ago
As you should be. When we go spelunking for evidence of differences we're engaging in the reinforcement of social categories. When evidence of differences is found it becomes the justification for the category's existence. If that seems backwards and circular in logic, then you would be correct. The same interplay exists between sex and gender and well as a host of other categories.

tomrod 2y ago

Hierarchical clustering applied to brain scans. As a clustering output, it's useful to conceptualize but not definitive of what one can expect from behavior nor development. If I am not mistaken, this is the original paper.[0] [0] https://www.nature.com/articles/s41593-023-01259-x https://www.nature.com/articles/s41593-023-01259-x

alilleybrinker 2y ago
You are mistaken. The work described here is based on this paper, currently published as a preprint: https://www.medrxiv.org/content/10.1101/2024.08.15.24312078v1.full https://www.medrxiv.org/content/10.1101/2024.08.15.24312078v... This preprint is the first link in the article.

mock-possum 2y ago

Four classes, to wit: > We identified one class … referred to as Social/Behavioral … that demonstrated high scores (higher difficulties) across core autism categories of social/communication and restricted/repetitive behaviors, as well as disruptive behaviors, attention, and anxiety, and no reports of developmental delays > A second class … called Mixed ASD with DD … shows more nuanced presentation within certain categories, with some features enriched and some depleted among the restricted/repetitive behavior, social/communication, and self-injury categories, and an overall strong enrichment of developmental delays > The last two classes scored consistently lower (fewer difficulties) and consistently higher than other autistic children across all seven categories. These two classes were termed Moderate Challenges and Broadly Impacted, respectively.

faeriechangling 2y ago

Glad they're working away at this. I've stopped identifying as autistic despite having a dx because I was tired of the way it got me treated worse by the general public who presume I'm far more incompetent than I actually am and medical practitioners who do the same. Last time I sought help for a totally unrelated issue they asked if I had any prior dx and I was foolishly honest so I was subsequently referred to a day program for unemployed people with severe mental health issues. I'm full time employed so I couldn't even attend. This is the outcome of treating "autistics" as a monolith. After the DSM-IV they decided to consolidate 3 different autism spectrum diagnosis's into one. They said this was scientific, but IMHO, this was done so everybody with Aspergers or PDD-NOS to be eligible for the higher funding levels those categorised as "Autistic" got. Which has done nothing but take away funding from severely disabled people while causing more mildly impaired people to receive inappropriate and condescending treatment, I am fucking eligible for a full time day program where a social worker will be paid to chaperone me because I'm just so fucking needy that's just what needs to be done. This change was great for the psychiatrists through, who simply received more money as a result of making this diagnostic change, nice conflict of interest there. As a society, we decided having certain labels of disability entitled you to special legal rights and certain financial benefits. Where I live any autism diagnosis, no matter how severe or mild, gets you a flat amount of money, whereas other diagnosis's even if the condition is more severe than autism get nothing. What do you think parents, who can shop around from a variety of private psychiatrists, looking to access therapy for their child that autistic kids also get do? So you might get a kid with ADHD or Anxiety or some speech disorder, and not getting an autism DX, but getting treated like a moderately impaired autistic. I honestly loathe, absolutely loathe the status quo of autism diagnosis and treatment and am happy for any change to be made that splits the diagnosis up because it creates at least a hope of "Severe autism" receiving higher funding levels than the rest, and "autism light" starting to get similar funding levels to other disabilities so there isn't a perverse incentive. I have not made an online comment on any website in 1 month but this inspired me.

__turbobrew__ 2y ago
This may be spicy, but I wonder if autism has a higher rate of occurrence in upper middle class homes which is why it has got so much more attention and funding than more serious illnesses as you say.

hcfman 2y ago

I’m quite sick of all the studies that only talk about problems. If a side effect of some autistic conditions can mean an advantage their area of deep focus can this not also be celebrated ? Often even people with deep autism with associated problems achieve extraordinary things through their focus and persistence. Otherwise all is presented is negative with no positive. I’d quite like to be seen also from the positive side when it’s present thank you. I’m happy that I’m not neurotypical and please can’t they cancel trying to cure this. Sounds all too much like eugenics.

dyauspitr 2y ago
Try telling that to my neighbor whose kid constantly throws violent tantrums multiple times a week. It’s very unfortunate, it happened to some very nice people.
faeriechangling 2y ago
Autism is literally medically defined as a series of deficits, latest criteria = DSM-V-TR https://www.reddit.com/r/aspergirls/comments/th9hku/dsm5tr_new_diagnostic_criteria_for_autism/ https://www.reddit.com/r/aspergirls/comments/th9hku/dsm5tr_n... The only positive thing said about autism in that entire gigantic write-up is "Special interests may be a source of pleasure and motivation and provide avenues for education and employment later in life" Why would doctors treat autism as being anything but negative with no positive when Autism is literally defined in that way? Of course, people since Leo Kanner and Hans Aspergers noted Autistics having extraordinary abilities, and people are vaguely aware of this, but doctors hold autistics in worse contempt than the general population mostly because you can't bill insurance to treat a "difference" or get a study grant to research a "difference". So the system they're in forces them to treat autistics as contemptible and even in need of curing. Besides that, psychiatry is after all the study of mental illness and disorders, not of mental differences, so there's a bias just from training. Legal, UN definition, trying to cure a mental disorder is not eugenics. It is logically the same idea as eugenics though, the UN just didn't outlaw this idea since the mentally disordered were considered sufficiently inferior. Autistics can also be banned from sperm banks. There's nothing to be done really as a mere not neurotypical internet dweller. The inertia of the status quo is like a train and many people benefit from it. The only real choice you have is to call yourself something like "Not neurotypical" instead of "Autistic".

Madmac89 2y ago

25 years later, we’ve made zero progress. Sure, we have a broader floor of science and study created from 25 years of additional science. Its pretty simple, and we knew it then - until there are biologic markers and testing, we will not be able to bifuricate the phenotypes. Certainly we can chase this statistically - as Troanskaya et al. have done, and there is certainly validity to the statistical work and it contributes overall. But it doesn’t get to the core of the problem we face in continuing to use such a wildly broad and subjective diagnosis tool. Its no wonder those society has labeled neurodiverse are so upset - we’re throwing treatment modalities which are clearly not appropriate. We’ve known how - the problem needs directed science, not academic science. But Academia is resisting. Government is resisting. Frankly - science and professions are resisting. When founding the Mind Institute at UC Davis - Parents tried to convince academics to go this route. They even raised unheard of amounts of money. And were routinely ignored by the system. And here we are 25 years later. Best guess remains there are 5 to 7 major phenotypes - without even getting into the issues of severity. We haven’t even adequately surveyed the symptomology so we can correlated it to demographics, much less actual biological markers. We’re chasing the wrong things b/c no one is interested in doing the hard work to carve this problem into digestible and replicable. We need directed research to carve this problem up. There is an indisputable issue in the DX count going from 1:10000 to 1:50 - in our life times. Its not better diagnosis.

adultSwim 2y ago

Has anyone tried working with the datasets they relied on?