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Autism mutations drive neurodevelopmental pathology

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Re: Autism mutations drive neurodevelopmental pathology

#51
post #12

Earlier quoted context omitted.

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 th…

> 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.

"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...?

Re: Autism mutations drive neurodevelopmental pathology

#52
post #14

Earlier quoted context omitted.

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 p…

"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 equa…

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?

Re: Autism mutations drive neurodevelopmental pathology

#53
post #24
post #14

Earlier quoted context omitted.

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 p…

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.

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.

Re: Autism mutations drive neurodevelopmental pathology

#54
post #50

Earlier quoted context omitted.

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 cat…

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?

Typicals are the neurotype that reproduces fastest, that's it.

Re: Autism mutations drive neurodevelopmental pathology

#55
post #49

Earlier quoted context omitted.

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.

90% of autistics are undiagnosed and work.

Wouldn't that be "???"% of autistics are undiagnosed? Because ... they're undiagnosed?

Re: Autism mutations drive neurodevelopmental pathology

#56

Earlier quoted context omitted.

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.

What do you mean "broken"? Autistic folks are not broken.

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

Re: Autism mutations drive neurodevelopmental pathology

#57
post #49

Earlier quoted context omitted.

90% of autistics are undiagnosed and work.

Wouldn't that be "???"% of autistics are undiagnosed? Because ... they're undiagnosed?

The 90% is mentioned very commonly.

In Uk they made studies about this: https://www.kcl.ac.uk/news/up-to-90-of-middle-aged-and-older...

Re: Autism mutations drive neurodevelopmental pathology

#58
post #47

Earlier quoted context omitted.

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 cat…

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?

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 :)

Re: Autism mutations drive neurodevelopmental pathology

#59
post #12

Earlier quoted context omitted.

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 th…

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…

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.

Re: Autism mutations drive neurodevelopmental pathology

#60
post #52

Earlier quoted context omitted.

"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 equa…

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?

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.

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