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Autism mutations drive neurodevelopmental pathology

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151–160 of 199 posts

Re: Autism mutations drive neurodevelopmental pathology

#151

Earlier quoted context omitted.

"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…

> Have a disability" and "broken" are not synonyms They really are. Like, you can alter the environment all you want but someone who needs glasses to see has broken eyes. Is it super common and do we have a cure? Yes and yes, but it's still, you know, not working. Disabled. Busted. Broken. Whichever word you pick isn't going to change the reality.

"That person is disabled" and "that person is broken" fundamentally are different. You are supposed to fix broken things. We don't fix disabilities. We can support them, treat them, assist them.

Yes, having a disability is hard. But the person is not broken.

Re: Autism mutations drive neurodevelopmental pathology

#152
post #57

Earlier quoted context omitted.

Wouldn't that be "???"% of autistics are undiagnosed? Because ... they're undiagnosed?

The 90% is mentioned very commonly. In Uk they made studies about this: https://www.kcl.ac.uk/news/up-to-90-of-middle-aged-and-older...

That study suggests that 65% of autistic individuals are undiagnosed. The 90% is only for middle-aged and older.

Skimming a couple (due to time constraints) of the sources mentioned in the study, one source [1] mention that "3 in 10 autistic people of working age are in employment", and the other [2] that "approximately 50% fail to achieve independence in their living status, employment, and close relationships"

It doesn't seem to support the claim that "90% of autistics are undiagnosed and work".

[1] https://www.gov.uk/government/publications/the-buckland-revi... [2] https://link.springer.com/article/10.1007/s10803-020-04763-2

Re: Autism mutations drive neurodevelopmental pathology

#153

Earlier quoted context omitted.

Thank you for sharing your lived experience, it is meaningful. I suspect some who say they like autistic traits, mean "level 1" on the ASD. May I ask if this child is level 2 or level 3 ASD? I'm imagining it is quite a different reality with level 1 vs level 2/3. https://www.autismspeaks.org/levels-of-autism

He's never been classified that way as far as I know. I would say somewhere between level 1 and level 2. He writes very well. But speaking person to person, not so good. And as I described, there's significant rigidity in his behavior. For example, when he cooks, he can't generalize. Cooking is by time, not appearance, food has to come the same packaging etc.

Level 1 is minimal assistance needed. Simply "requires support". Might need headphones sometimes or additional space to process feelings. This can often be just some extra coaching or training.

Level 2 is "requires substantial support". This is where there are significant obvious impairments to daily life. You may not see emotional reciprocity, and peer relationships may be difficult. Sensory sensitivities may be more pronounced.

Level 3 is where people may be nonverbal or not always verbal. They may need significantly different communication systems like pictures. Aggressive outbursts, repetitive and narrow interests, self harm like head banging, shutdowns or meltdowns from moderate to mild stimulae are not uncommon. They will likely need supervision and may need support to consistently complete basic daily tasks like eating, toileting, etc.

I'm diagnosed level 2. What you are describing does not at all sound like level 1. Perhaps you've flipped the scale and meant somewhere between 2 and 3?

Re: Autism mutations drive neurodevelopmental pathology

#154
post #119

Earlier quoted context omitted.

Thank you for sharing your lived experience, it is meaningful. I suspect some who say they like autistic traits, mean "level 1" on the ASD. May I ask if this child is level 2 or level 3 ASD? I'm imagining it is quite a different reality with level 1 vs level 2/3. https://www.autismspeaks.org/levels-of-autism

My child is a level 1. It has cost me thousands and thousands of dollars to get her help because no one wants to give her resources because she's so high functioning. So high functioning! Yes my child who has random panic attacks and bolts in random directions. My kid who had a meltdown because I forgot to tell a friend that if she goes to one particular park, they have to get ice cream. My kid who is 7 and was suici…

I'm dx'd level 2. I was diagnosed until later. It's hard to be an autistic kid, full stop. Nothing but empathy for you and your daughter.

If it's any consolation, childhood years can be very tough around that age for autistic kids, but many of us find significant communities once we get online and around other autistic people our own age. Many of us go on to be very successful and happy adults once we find our niche.

Re: Autism mutations drive neurodevelopmental pathology

#155
post #20

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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.

You've agreed with what I said. Nothing here is counter to or in opposition to my point.

The person has a disability. Part of the person may be broken, but the person isn't broken. I'm autistic. My sensory processing wiring is different and arguably broken. But I am not. I'm disabled. I can overcome the broken parts that result in my disability with support.

Re: Autism mutations drive neurodevelopmental pathology

#156
post #49

Earlier quoted context omitted.

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.

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.

Re: Autism mutations drive neurodevelopmental pathology

#157
post #49

Earlier quoted context omitted.

90% of autistics are undiagnosed and work.

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.

Re: Autism mutations drive neurodevelopmental pathology

#158

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…

Well, people with epilepsy who “prefer” the autistic label are just people who are wrong. They may be both autistic and have epilepsy. Epilepsy is diagnosable based on observed neurological events and physiology, it does not depend on behavioural observations, a person’s opinion about whether they have it, or a doctor’s interpretation of a self-evaluation (as autism diagnosis often does).

I disagree with you that it’s the discussion that’s off, it is the science.

The problem is that autism is not a clearly defined disorder. Its definition and diagnostic criteria can and have changed, and even then, those criteria are poorly specified.

One thing that I have always found troubling is the “clinically significant impairment” requirement of an autism diagnosis. It seems to me that a person’s level of “impairment” is likely to depend on individual differences and possibly environment and circumstances. To me this seems odd: surely the disorder exists regardless of a person’s ability to manage it? If a person grows up in accommodating circumstances, do they not have autism? What if someone grows up in tough circumstances but later finds more accommodating circumstances, is their autism “cured”? Questions are facetious, but the point stands.

It’s also odd that we see autism so highly implicated in comorbidities with other disorders such as epilepsy, which aren’t dependent exclusively on phenotype observations to diagnose. To me, this strongly indicates that what we call autism today (or some sub/superset of it) likely will become definitively diagnosable in future with improved understanding and brain imaging.

For now, it feels like the diagnostic criteria are actually just guidelines for guessing whether someone is autistic, rather than determining it (especially when it comes to determining what constitutes “significant clinical impairment” and its varying degrees).

To be clear: I definitely believe that “autism” exists and is a disorder that impacts people broadly as described, the challenges are around its definition and diagnosis. I have spoken to autistic people before who have found my views to be offensive, and invalidating of them. That’s not my intention, my intention is to pursue accuracy because I believe with better understanding, we will be able to make sure our public spaces/workplaces/etc. are accommodating to everyone, including folks with different needs.

Re: Autism mutations drive neurodevelopmental pathology

#160

Earlier quoted context omitted.

Just to be clear: are you suggesting that the only reason someone would want a companion is to satisfy lust?

What other reason would there be to have a girlfriend or boyfriend? Financial exploitation?

Are you on the spectrum too?
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