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Autism mutations drive neurodevelopmental pathology

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Re: Autism mutations drive neurodevelopmental pathology

#101

Post by XCSme »

coldtea wrote: post #70
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?

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 test…

That's a good example: they hate certain things, and are ok with others.

Depending on what you "hate" your life and disability can vastly drastically. Be it eye contact, clothing, certain foods, or the inability to change your routine or environment at all, or to even leave the house alone.

Re: Autism mutations drive neurodevelopmental pathology

#102

Post by XCSme »

autoexec wrote: post #64
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?

> 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…

The problem is that the set of problems is very broadly defined, changes over time, varies from person to person, it's often impossible to obiectively test.

Can't it be that a neurotypical person is bothered by some autistic triggers? Would that make them neurodivergent? How many of those triggers do you need to have to be under that umbrella? 1? 5? 20?

It is indeed called a spectrum, and I think it gets so fuzzy at the edges that the only way to define where it starts or ends is purely arbitrarly chosen.

Re: Autism mutations drive neurodevelopmental pathology

#103

Post by DoctorOetker »

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…

> If I were to include additional biological possibilities, I'd include: a) birth control -> waiting to have children until a later age, more de novo mutations due to age.

Surely it should be easy to collect the data to plot such a hypothesis: incidence rate vs age of father and vs age of mother at conception, and at birth.

Re: Autism mutations drive neurodevelopmental pathology

#104

Post by Gigachad »

coldtea wrote: post #66
sublinear wrote: post #36

Earlier quoted context omitted.

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?

I get the feeling that with a sufficiently advanced understanding of the brain we could attribute every personality trait to a biological explanation, but if someone isn't sufficiently disabled or in need of treatment, is there any benefit to doing so?

The person who possibly is on the lightest side of the autism spectrum has so little in common with the other end that it feels incorrect to label them as the same condition.

Re: Autism mutations drive neurodevelopmental pathology

#105

Post by hoppp »

wredcoll wrote: post #97
hoppp wrote: post #77

Earlier quoted context omitted.

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?

You are right, thats not what I should have written there.

Re: Autism mutations drive neurodevelopmental pathology

#106

Post by DoctorOetker »

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.

From the language of the paper, replace the commentor's "broken" with "mutant type" instead of unaffected "wild type"

Re: Autism mutations drive neurodevelopmental pathology

#108

Post by amdsn »

SubiculumCode wrote: post #86
longhaul wrote: post #63

Earlier quoted context omitted.

@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…

I agree 1000% that the full spectrum of autism must be included into autism research. My research for the last 10 years has been dedicated to collecting and analyzing data for the Autism Phenome Project [1]. Unlike almost all autism neuroimaging research, we include the full spectrum of autism, with a third of our participants with severe intellectual disabilities, closely matching their share of the autistic populat…

>It still frustrates me to no end that almost every neuroimaging study you read by default excludes those with IQs less than 80, while our cohort has managed, through very hard work, managed to image individuals with IQs in the 20-60 range with regular success.

I appreciate the effort it takes to include that group. My brother has severe/low functioning autism and he also has very limited language capability (limited vocabulary with simplified grammatical constructions, mix of ASL/SEE signs and spoken words, difficulty producing certain sounds). I've always found it odd that even studies that mainly use data gathered by imaging or other medical tests that don't rely on the subject's mental capacity to participate almost always have no subjects that resemble him at all. I've always assumed it's because it's significantly harder to manage such subjects and probably also very likely for their families to be unable to bring them in for testing in studies that span years.

Re: Autism mutations drive neurodevelopmental pathology

#109

Post by pvaldes »

john_strinlai wrote: post #35
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!

> Genetics does not explain steep raise in last a few decades. as we built better telescopes, we found more stars

A) There are more autistic people because something noxious causes autism.

B) Nope. There are more autistic people because tests improved.

This common discourse annoys me a little, frankly. The problem is that "B" does not imply "not A". Both explanations can be true at the same time.

But people people will automatically discard "A" because "A is problematic". It implies a cause, and we may not like it, so is removed from the discussion ASAP.

The same kind of "problematic" that was to observe in 1960's that "smokers develop lung cancer frequently, maybe tobacco causes cancer". Companies will fight teeth and nails to dismiss it and say "look at the cute squirrel over there".

But is true that we started to notice much more autistic people after the use of some particular pesticide became widespread in the entire planet. May be related. May be not. May be a common result triggered by many causes, but we should not jump to bring home the "nice" B just because is nice (and politically convenient)

Re: Autism mutations drive neurodevelopmental pathology

#110

Post by hypfer »

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…

> 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.

Can you elaborate on that?

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