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Autism mutations drive neurodevelopmental pathology

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Re: Autism mutations drive neurodevelopmental pathology

#61

Post by Alex3917 »

kulahan wrote: post #51
Alex3917 wrote: post #23

Earlier quoted context omitted.

> 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...?

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.

Re: Autism mutations drive neurodevelopmental pathology

#62

Post by roughly »

imzadi wrote: post #29
roughly wrote: 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…

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 to…

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.

Re: Autism mutations drive neurodevelopmental pathology

#63

Post by longhaul »

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…

@SubiculumCode - replying as you are a researcher in this field. There is an increase in profound autism globally (I think this is the new naming to differentiate severe autism) which isn’t explained by sensitive instruments or inclusion criteria. You just don’t need them to identify profound autism, it is that obvious. Affected people need caregivers for life also causing severe mental and financial stress. It will only help your research to investigate this increase which perhaps will lead to medical breakthroughs.

Re: Autism mutations drive neurodevelopmental pathology

#64

Post by autoexec »

XCSme wrote: post #47
flatline wrote: post #45

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?

> But different autistic people struggle with different things, in different ways.

Different asthmatic people struggle with different things, in different ways too, but it's useful to have a general diagnosis umbrella to cover those who have asthma even though symptoms and effective treatments may vary.

Work is ongoing to get better defined categories for autistic people, but for now at least we've got a category for people that match a broad set of traits/symptoms/challenges to work from.

Re: Autism mutations drive neurodevelopmental pathology

#65

Post by [deleted] »

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…

[deleted]

Re: Autism mutations drive neurodevelopmental pathology

#66

Post by coldtea »

sublinear wrote: post #36
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…

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 pa…

>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?

Re: Autism mutations drive neurodevelopmental pathology

#67

Post by coldtea »

Alex3917 wrote: post #61
kulahan wrote: post #51

Earlier quoted context omitted.

"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...?

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.

>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.

Re: Autism mutations drive neurodevelopmental pathology

#68

Post by coldtea »

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.

Yeah, no. Autistic people pretty reliably score high on a set of diagnostics test for example, whereas others do not.

For ASD 3 and 2 it's even easier to see it's not "everyone".

Re: Autism mutations drive neurodevelopmental pathology

#69

Post by coldtea »

XCSme wrote: post #50
flatline wrote: post #45

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?

>What if neurotypicals are actually the neurodivergent ones?

That would need them to be the minority, which they are not.

Same way sight is not the special case, blindness is.

Re: Autism mutations drive neurodevelopmental pathology

#70

Post by coldtea »

XCSme wrote: post #47
flatline wrote: post #45

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?

No so different things, and not so different ways. The "if you met one, you met one" is overplayed. Yeah, they have different interests and might have different comorbidities, doesn't mean they don't just have different core issues that are merely expressed differently (e.g. hates jeans vs hates wool sweaters or hates noises, but underlying both is sensory sensitivity).

The fact that they don't is why diagnostic tests exist and work.

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