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Autism mutations drive neurodevelopmental pathology

science.org

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Re: Autism mutations drive neurodevelopmental pathology

#41

Post by nick__m »

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…

What else but pity should I feel toward non verbal autistic people?

Re: Autism mutations drive neurodevelopmental pathology

#42

Post by mapontosevenths »

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.

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.

Re: Autism mutations drive neurodevelopmental pathology

#43

Post by hbcondo714 »

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…

@SubiculumCode, thanks for this comment and helping us understand better. Is there by chance a way to contact you about your research & expertise or would you mind contacting me using my profile info? I built https://behavior.today and would love to connect on this topic. Thanks!

Re: Autism mutations drive neurodevelopmental pathology

#44

Post by throw939ii44 »

SubiculumCode wrote: post #37
throw939ii44 wrote: post #31

Earlier quoted context omitted.

Genetics does not explain steep raise in last a few decades. Anyway, we do not really know what is causing it, have no real idea what it even is. But we must apply occam's razor very very quickly!

First, and foremost, the rise in autism rates is due to more sensitive instruments, a broadening of some inclusion criteria between DSM 4 and 5, more awareness of autism, less stigma associated with autism, services attached to autism diagnosis. I believe current research suggests these don't account for all the rise, but does account for most of it. If I were to include additional biological possibilities, I'd inclu…

Severe autism is on raise as well, and that has stable diagnoses over several years. Plus general cognitive decline in last a few decades is also documented.

Is it politically correct to write about later stage pregnancies? It would be insta ban only a few years ago.

Perhaps soon we will be able to openly discus something else, that may cause endocrine disruption, not just plastics!

Re: Autism mutations drive neurodevelopmental pathology

#45

Post by flatline »

XCSme wrote: post #27
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…

As a potential autist, I think everyone is autistic in one way or another (which would make everyone neuroytpical, lol). In the end, maybe we are just all unique individuals with our character sliders set in various forms.

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 category may be useless, but that doesn't mean that autistic people are suddenly neurotypical -- a term that is more politically than scientifically oriented. People who are not autistic broadly are allistic, to be precise with language. They may be neurodivergent in other ways.

Re: Autism mutations drive neurodevelopmental pathology

#46

Post by s1artibartfast »

SubiculumCode wrote: post #32
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?

Genetic contributors to autism include: 1. common variants. Common variants are genetic variants weakly associated with autism that we all have to some degree or another, and that only result in autism given a sufficient number of them are found in a person..or at least that's a common idea and pretty well supported. These variants are inherited. 2. rare de novo variants: These are spontaneous genetic variants that t…

Is there an understanding of the relative prevalence of each type in modern society? Thinking about changing rates of diagnosis, with common circulating variants, it seems like changes to detection and classification would be the only explanation for rate change.

Re: Autism mutations drive neurodevelopmental pathology

#47

Post by XCSme »

flatline wrote: post #45
XCSme wrote: post #27

Earlier quoted context omitted.

As a potential autist, I think everyone is autistic in one way or another (which would make everyone neuroytpical, lol). In the end, maybe we are just all unique individuals with our character sliders set in various forms.

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?

Re: Autism mutations drive neurodevelopmental pathology

#48

Post by hoppp »

djaro wrote: post #20
forestrywat wrote: post #11

Earlier quoted context omitted.

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.

The disability exists when compared to neurotypicals but does not necessarily exist when compared to other autists.

As a comparison, if you put a bonobo with chimps the bonobo will be severely disabled socially, but it won't be when compared to other bonobos.

The fact that autists can communicate with each other does not fit typical models of disability. A blind person should be blind to another blind person.

Re: Autism mutations drive neurodevelopmental pathology

#49

Post by hoppp »

mapontosevenths wrote: post #42
forestrywat wrote: post #11

Earlier quoted context omitted.

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

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.

Re: Autism mutations drive neurodevelopmental pathology

#50

Post by XCSme »

flatline wrote: post #45
XCSme wrote: post #27

Earlier quoted context omitted.

As a potential autist, I think everyone is autistic in one way or another (which would make everyone neuroytpical, lol). In the end, maybe we are just all unique individuals with our character sliders set in various forms.

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?

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