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Autism mutations drive neurodevelopmental pathology

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Re: Autism mutations drive neurodevelopmental pathology

#171

Post by ahazred8ta »

amdsn wrote: post #108
SubiculumCode wrote: post #86

Earlier quoted context omitted.

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…

You'd think that subjects who are institutionalized would not have this access problem.

Re: Autism mutations drive neurodevelopmental pathology

#172

Post by piperswe »

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

Have we gone back to vaccines after announcing Tylenol as the cause?

Re: Autism mutations drive neurodevelopmental pathology

#173

Post by XCSme »

coldtea wrote: post #69
XCSme wrote: post #50

Earlier quoted context omitted.

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.

But that's the thing, sight and blind can be easily defined.

"Autism" can't, most of the people live undiagnosed, many mask the symptoms unknowingly, specialists can't even tell exactly if someone is autistic or not, many people are misdiagnosed, or diagnosed as neurotypical by some specialists and neurodivergent by others.

I don't think the ratio is that far towards neurotypicals as it was previously believed. I think that, as most things in life, it's a gaussian distribution.

Re: Autism mutations drive neurodevelopmental pathology

#174

Post by XCSme »

coldtea wrote: post #68
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.

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".

> Autistic people pretty reliably score high on a set of diagnostics test

Any sources? In my experience, most people that I know are on the limit with their diagnostic, and the majority discovered it late in life (30+, so a lot of masking is involved).

Re: Autism mutations drive neurodevelopmental pathology

#175

Post by mapontosevenths »

forestrywat wrote: post #156
hoppp wrote: post #49

Earlier quoted context omitted.

90% of autistics are undiagnosed and work.

I think it's less than this. Perhaps 25%-40%. But highly variable based on socioeconomic status. But the parent post is also wrong. Statistics vary, but employment among autistic people is as high as 58% in the US (which shouldnt be surprising, given that many autistic folks have no diminishment of iq). So, definitely huge unemployment rate, but not so dire are the gp suggests.

I think I know the study you mean. That misrepresents it.

It says that in the USA (numbers are much worse internationally) :

* 58% had EVER held a paid job since leaving high school.

* About 42% had never worked for pay.

* Nearly 80% of those who worked were working part-time.

* Only about 21% had worked full-time in their current/most recent job.

* 19% had ever lived away from home independently

[0] https://drexel.edu/autisminstitute/news-events/news/2015/Apr...

Re: Autism mutations drive neurodevelopmental pathology

#176

Post by hoppp »

inigyou wrote: post #142
hypfer wrote: post #110

Earlier quoted context omitted.

> 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?

Name a social rule

Unspoken rules have no name, they are learned implicitly

Re: Autism mutations drive neurodevelopmental pathology

#178

Post by astura »

coldtea wrote: post #71
john_strinlai wrote: post #35

Earlier quoted context omitted.

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

Quick and cheap explanation many use, but not the case. Severe autism is also on the rise, and that doesn't need special telescopes, it's just evident.

I have twin cousins who have severe autism, one of which is institutionalized. When they were very young we (their caregivers, family, and doctors) understood their diagnosis to be "mental retardation." Nowadays they are known as autistic. They didn't change, but the world around them changed so their diagnosis shifted.

Before there were government services families still had children with profound disabilities that required lifelong care, they just didn't usually have any formal diagnosis. Everyone still understood that they need help with everyday activities and can't live on their own but sending them to specialist for a diagnosis didn't seem like something that was needed or even available if desired. The diagnosis is needed if you're applying for services, so more services that exist means more formal diagnosis will happen.

Re: Autism mutations drive neurodevelopmental pathology

#179

Post by brianmcc »

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…

Replying here to link -> https://www.bbc.co.uk/news/articles/cdew81wd2y8o

Which is specifically addressing what seems to be a massive and current/active struggle in the healthcare and scientific communities in terms of reconciling the vastly different experiences of people with autism who are (a) largely/entirely independent, but with genuine additional and often significant struggles, and (b) people who will never lead independent "normal" lives.

There is not an answer - there is friction and argument and emotion, and I suppose we are all waiting for things to run a course and maybe we will end up with alternative terms and sub-groups, in a few more decades of course...

Would enjoy hearing your take on it SubiculumCode!

Re: Autism mutations drive neurodevelopmental pathology

#180

Post by mapontosevenths »

forestrywat wrote: post #157
mapontosevenths wrote: post #80

Earlier quoted context omitted.

I kind of thought that the fact I provided a number at all implied that it referred to the diagnosed, but the point that we can't know what we don't know is fair. Still, my point stands. Most people who have it badly enough to get diagnosed can't hold jobs. Autism isn't some quirky personality trait that makes you a special cool kid on Tik-tok. It's a government recognized disability.

I'm dx'd level 2 and have a job. I think your stats are out of date. Yes, unemployment is high in the autistic community. But it's not to the degree you suggest.

> I'm dx'd level 2 and have a job.

Me too, but you and are very lucky.

In my case I have uneven capabilities, but my worst functions are still average and my best are very high. It's far more common for the best capabilities to be average and the worst to be far below. It's like one of those character creation screens in a game where you get to distribute skill points and someone hit 'random'. I got lucky and there were plenty of points to distribute randomly. Most seem to have had fewer to start with.

> I think your stats are out of date.

I looked it up before I made that post yesterday. It's pretty current, unfortunately. There is a ton of variation regionally, and there are different definitions, etc... Like all statistics it's more complicated than the headline, but the TLDR is that globally the diagnosed adult population averages around that number and it's literally one of the worst forms of disability to have as far as employment goes.

See:

* https://link.springer.com/article/10.1007/s10803-025-07139-6

* https://link.springer.com/article/10.1007/s10803-026-07467-1

* https://pmc.ncbi.nlm.nih.gov/articles/PMC11861060/

* https://www.gov.uk/government/publications/the-buckland-revi...

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