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Autism mutations drive neurodevelopmental pathology

science.org

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Re: Autism mutations drive neurodevelopmental pathology

#11

Post by forestrywat »

rickydroll wrote: post #3
kayo_20211030 wrote: post #2

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…

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.

Re: Autism mutations drive neurodevelopmental pathology

#12

Post by roughly »

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 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."

Re: Autism mutations drive neurodevelopmental pathology

#13

Post by emptybits »

gignico wrote: post #9
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…

I thought the US government had just decided that the cause of autism was vaccines

No need for your tag. The United States makes repeated claims linking childhood vaccines to autism.

https://www.factcheck.org/2026/08/trump-and-rfk-jr-repeat-fa...

Re: Autism mutations drive neurodevelopmental pathology

#14

Post by djaro »

kelseyfrog wrote: post #4
rickydroll wrote: post #3

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.

Brave to say on one of the most autistic web forums that autistic people have something that's broken :|

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.

Re: Autism mutations drive neurodevelopmental pathology

#15

Post by creaturemachine »

Muromec wrote: post #8
rickydroll wrote: post #3

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.

I for once enjoy the glitches in my signal mixing module, don't want nothing to fix there.

It's the normies that are missing out.

Re: Autism mutations drive neurodevelopmental pathology

#16

Post by randomImmigrant »

kayo_20211030 wrote: post #2

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…

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.

Re: Autism mutations drive neurodevelopmental pathology

#17

Post by SubiculumCode »

kelseyfrog wrote: post #4
rickydroll wrote: post #3

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.

Brave to say on one of the most autistic web forums that autistic people have something that's broken :|

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.

Re: Autism mutations drive neurodevelopmental pathology

#18

Post by raducu »

forestrywat wrote: post #11
rickydroll wrote: post #3

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.

Nobody said they were, but broken in terms of neurotypical circuitry, yes

Re: Autism mutations drive neurodevelopmental pathology

#19

Post by SubiculumCode »

gignico wrote: post #9
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…

I thought the US government had just decided that the cause of autism was vaccines

no sarcasm tags needed unfortunately, and we autism scientists are very worried/ For example, as I submitted a few days ago: https://news.ycombinator.com/item?id=49422954

Re: Autism mutations drive neurodevelopmental pathology

#20

Post by djaro »

forestrywat wrote: post #11
rickydroll wrote: post #3

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.

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.

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