4 ms·

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 o

by roughly 1mo ago

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."

Alex3917 1mo ago
> what leads us to treat ASD as an actual single disorder, as opposed to a billion different individual neurological profiles? We already do treat it as the latter. The medical definition of autism is basically just any neurodevelopmental disorder that isn’t ADHD.
- reubn 1mo ago
  What a ridiculous take.
- kulahan 1mo ago
  "Why don't we treat it as many disorders instead of just calling everything autism?" "we do, autism is everything that isn't ADHD" ...what? I must be stroking out, but I have no idea what point you're making here...?
  - Alex3917 1mo ago
    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.
    - coldtea 1mo ago
      >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 1mo ago
        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 1mo ago
        Is this satire?
        preg_match 1mo ago
        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.
    - kulahan 1mo ago
      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.
- inigyou 1mo ago
  This hypothesis runs into the slight problem that autism and ADHD are highly co-occurring.
SubiculumCode 1mo ago
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.
- sublinear 1mo ago
  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.
  - coldtea 1mo ago
    >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 1mo ago
      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.
imzadi 1mo ago
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 1mo ago
  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 1mo ago
    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. [0] https://en.wikipedia.org/wiki/Pleiotropy https://en.wikipedia.org/wiki/Pleiotropy
- shermantanktop 1mo ago
  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.
bluGill 1mo ago
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 1mo ago
We name them as one (autism), but try to treat each as what it is specifically
Bjartr 1mo ago
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.

by roughly 1mo ago

Alex3917 1mo ago

> what leads us to treat ASD as an actual single disorder, as opposed to a billion different individual neurological profiles? We already do treat it as the latter. The medical definition of autism is basically just any neurodevelopmental disorder that isn’t ADHD.

reubn 1mo ago
What a ridiculous take.
kulahan 1mo ago
"Why don't we treat it as many disorders instead of just calling everything autism?" "we do, autism is everything that isn't ADHD" ...what? I must be stroking out, but I have no idea what point you're making here...?
- Alex3917 1mo ago
  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.
  - coldtea 1mo ago
    >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 1mo ago
      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 1mo ago
        Is this satire?
        preg_match 1mo ago
        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.
  - kulahan 1mo ago
    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.
inigyou 1mo ago
This hypothesis runs into the slight problem that autism and ADHD are highly co-occurring.

SubiculumCode 1mo ago

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.

sublinear 1mo ago
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.
- coldtea 1mo ago
  >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 1mo ago
    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.

imzadi 1mo ago

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 1mo ago
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 1mo ago
  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. [0] https://en.wikipedia.org/wiki/Pleiotropy https://en.wikipedia.org/wiki/Pleiotropy
shermantanktop 1mo ago
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.

bluGill 1mo ago

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 1mo ago

We name them as one (autism), but try to treat each as what it is specifically

Bjartr 1mo ago

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.