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Autism mutations drive neurodevelopmental pathology

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Re: Autism mutations drive neurodevelopmental pathology

#91

Post by bluGill »

roughly wrote: post #12
SubiculumCode wrote: post #6

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…

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…

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.

Re: Autism mutations drive neurodevelopmental pathology

#92

Post by wredcoll »

1attice wrote: post #30
s1artibartfast wrote: post #26

Earlier quoted context omitted.

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?

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…

> 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.

Re: Autism mutations drive neurodevelopmental pathology

#93

Post by wredcoll »

nick__m wrote: post #39
forestrywat wrote: post #11

Earlier quoted context omitted.

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

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!

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.

Re: Autism mutations drive neurodevelopmental pathology

#94

Post by coldtea »

Alex3917 wrote: post #83
coldtea wrote: post #67

Earlier quoted context omitted.

> 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.

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.

Is this satire?

Re: Autism mutations drive neurodevelopmental pathology

#95

Post by wredcoll »

forestrywat wrote: post #22
djaro wrote: 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…

> 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.

Re: Autism mutations drive neurodevelopmental pathology

#96

Post by wredcoll »

aleph_minus_one wrote: post #74
hoppp wrote: post #52

Earlier quoted context omitted.

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?

> 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 a…

> 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.

Re: Autism mutations drive neurodevelopmental pathology

#97

Post by wredcoll »

hoppp wrote: post #77
aleph_minus_one wrote: post #74

Earlier quoted context omitted.

> 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 a…

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. 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…

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?

Re: Autism mutations drive neurodevelopmental pathology

#98

Post by StevenWaterman »

roughly wrote: post #59
SubiculumCode wrote: post #25

Earlier quoted context omitted.

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…

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

Re: Autism mutations drive neurodevelopmental pathology

#99

Post by XCSme »

wredcoll wrote: post #88
XCSme wrote: post #47

Earlier quoted context omitted.

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?

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…

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.

Re: Autism mutations drive neurodevelopmental pathology

#100

Post by DoctorOetker »

RobotToaster wrote: post #82
SubiculumCode wrote: post #6

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…

Isn't there likely a large epigenetic component?

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.

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