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Autism mutations drive neurodevelopmental pathology

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Re: Autism mutations drive neurodevelopmental pathology

#111

Post by ksymph »

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…

> Is high-level behavior the only criteria for diagnosis?

Yes, it is: https://www.autismspeaks.org/autism-diagnostic-criteria-dsm-...

Though, to be more specific, it's even moreso about high-level behavior that has a negative impact, which is highly variable, particularly with environment. I think most would agree that this is extremely messy. But is there a better option?

For practical purposes, it makes some sense to diagnose based on high-level behavior and negative impact on one's life. Describing the relevant what rather than the currently-unknown why.

I do think a more granular approach would have benefits as far as treatment and such goes, though. I know a lot of folks with Asperger's diagnoses were upset when that was rolled into autism. I don't think that was the best distinction to be made, but I think it does show that the people with these conditions often aren't opposed to more granularity (myself included).

Re: Autism mutations drive neurodevelopmental pathology

#112

Post by zogzha »

StevenWaterman wrote: post #98
roughly wrote: post #59

Earlier quoted context omitted.

Ok, that makes sense - so ASD is basically that we’ve noticed some prototypical behaviors, which is where the grouping comes from, but it’s possible what we’re seeing is sort of the “carcinization” of mental operating modes - many different pathways into the same output point, which is why the genetic search has been so difficult - that right enough for a non-scientist? What I know of the brain is that it’s basically…

My understanding is that that's what makes it a disorder - that it's just a collection of symptoms that seem to appear together, rather than something with a known mechanism and cause

you’re thinking of “syndrome”

Re: Autism mutations drive neurodevelopmental pathology

#113

Post by foolswisdom »

DoctorOetker wrote: post #100
RobotToaster wrote: post #82

Earlier quoted context omitted.

Isn't there likely a large epigenetic component?

For single celled organisms "epigenetic" effects carry non-basepair state from a single-cell parent cell individual to its single-cell children cell individuals after cell division, For multi-cellular organisms "epigenetic" effects carry cell type state from lesser differentiated cell type parent to identical or higher differentiated cell type children cells in the same individual. For example A->B+C where A,B,C are…

I'm not sure if I understand, you're saying that there is no such thing as epigenetic inheritance? In other words you disagree with the phenomenon discussed in this wiki page? https://en.wikipedia.org/wiki/Transgenerational_epigenetic_i...

Re: Autism mutations drive neurodevelopmental pathology

#114

Post by 1attice »

wredcoll wrote: post #92
1attice wrote: post #30

Earlier quoted context omitted.

That's a good question with a neat answer: assortive mating can amplify a randomly occurring gene by sexual selection. Read on for the details. Suppose that there was a gene that made you more likely to be good at white collar thinkwork. You meet your partner at a professional event and have a baby. The baby now has between zero and two copies of the gene. And depending on gene dominance, the probability of at least…

> Speaking as someone on the spec, I could never imagine life partnership with an allistic person, nor can I imagine such a person putting up with my deficiencies and quirks. Moreover, quite literally all my friends are also autspec and would never interface with someone who isn't. So I believe ASD is strongly selected for by people with ASD. I am profoundly grateful I grew up in a situation that didn't cause me to s…

Honestly, right back at you. I love my people and they love me. Hope you get to the same. No one deserves to be alone in the manner you describe

Re: Autism mutations drive neurodevelopmental pathology

#115

Post by nerdralph »

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'm an aspie, and think my "version" of ASD has a large epigenetic component. I think social emotions that develop through childhood and adolescence happen through epigenetic changes that enable and disable sets of genetic material (not necessarily just genes) as the person develops. I think the physical changes that happen with puberty must involve timed epigenetic changes. I think the same thing happens with emotional development.

I don't feel shame. I don't feel deference to authority. I never developed innate lust (sexual desire); it was learned after my girlfriend initiated sex. I never had problems with peer pressure. I like getting along with other people, but I don't NEED to get along with other people.

My "problems" with empathy are primarily related to social emotions I don't feel. All my basic/mammalian emotions are fine. I cringe when I see someone stub their toe or cut their finger. I can't even watch bloody dramas on TV, because I feel uncomfortable despite knowing that it is fake.

I think epigenetic differences likely play a larger role than genetic (DNA) differences because the mutation rate of the epigenome is higher than the mutation rate of the genome. Of course, I agree that the biology of ASD (and biology in general) is very complex, so I'm sure there's a lot more going on than just epigenetic differences.

When I say "epigenetic", I'm not just referring to histone/methylation/cromatin changes to DNA, and perhaps there's a better word for what I'm trying to describe. It's my suspicion that some of the differences in my variant of ASD are not due to DNA variations, but other differences outside DNA such as RNA, prions, germ cell transposon differences, etc.

Re: Autism mutations drive neurodevelopmental pathology

#116

Post by shermantanktop »

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…

You can invert that. Why do people with similar or the same genetic code (identical twins) have such variation in symptoms?

Ultimately, the symptoms are what people experience, and treatments often center on mitigating symptoms. Having an insight into the underlying genetics may or may not help anyone live with a disease, especially not in the near term.

Re: Autism mutations drive neurodevelopmental pathology

#117

Post by roughly »

StevenWaterman wrote: post #98
roughly wrote: post #59

Earlier quoted context omitted.

Ok, that makes sense - so ASD is basically that we’ve noticed some prototypical behaviors, which is where the grouping comes from, but it’s possible what we’re seeing is sort of the “carcinization” of mental operating modes - many different pathways into the same output point, which is why the genetic search has been so difficult - that right enough for a non-scientist? What I know of the brain is that it’s basically…

My understanding is that that's what makes it a disorder - that it's just a collection of symptoms that seem to appear together, rather than something with a known mechanism and cause

Oh interesting, I didn’t know that was the distinction - thanks!

Re: Autism mutations drive neurodevelopmental pathology

#118

Post by preg_match »

coldtea wrote: post #94
Alex3917 wrote: post #83

Earlier quoted context omitted.

I mean you can literally upload your genetic methylation variants and bloodwork into Gemini and have it one shot a custom treatment plan for you, how much more personalized do you want? Obviously if you want hand holding from the medical system you can pay a psychiatrist or a functional doctor to do the same thing, but at this point the idea that treatment isn't personalized enough is frankly absurd.

Is this satire?

No, AI can greatly help with research. It helped me a lot during my cancer treatment, which was very complicated. Which makes sense, every cancer is different, and mine was quite crafty and unique.

But that's it. It helps with research, that's it. You still need doctors, typically multiple different doctors of different specialties, if you want correct treatment. The AI is a good starting point, so you can start asking your doctor the right questions, but it's never the ending point. At least, in my opinion. I'm sure it depends on the condition, and how much it follows a template.

Re: Autism mutations drive neurodevelopmental pathology

#119

Post by iteria »

ElijahLynn wrote: post #84
rickydroll wrote: post #56

Earlier quoted context omitted.

I live with a child who spends entire days with videos on his tablet. We can't take him anywhere because if the trip differs from what we told him (trip duration or locations), we have to abort the trip to prevent a meltdown. His inflexibility means he can't hold a job or go to school or training. He can't do household chores without prompting and handholding. He will never live alone or have anything resembling a fu…

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 suicidal from the social isolation that's starting up. And now that she's self-harming, now people want to give help! But not for the under lying issues. She's so high functioning (aka female and coping decently). She doesn't need pragmatic language help or social help or any of that stuff. Her spiraling is just purely chemical imbalance. Here's some pills.

My kid is truly high functioning. Only professionals tag her immediately. For everyone else it takes some long term intimate interaction to realize something is wrong. Any autistic adult who says this is great is coping. I have talked to too many high functioning autistic women and there only seem to be two camp: lots of mental health issues with possible commitments or intense treatment that their parents poured so much money into. And never of those is okay or what I'd wish on a kid. I didn't even know it was possible for a 7 year old to be suicidal without a major life event and apparently this is just a thing with some high functioning autistic kids. This is not okay.

Re: Autism mutations drive neurodevelopmental pathology

#120

Post by cuttysnark »

rickydroll wrote: post #56
forestrywat wrote: post #11

Earlier quoted context omitted.

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

I live with a child who spends entire days with videos on his tablet. We can't take him anywhere because if the trip differs from what we told him (trip duration or locations), we have to abort the trip to prevent a meltdown. His inflexibility means he can't hold a job or go to school or training. He can't do household chores without prompting and handholding. He will never live alone or have anything resembling a fu…

Sounds like your relationship is suffering. If it’s as you describe, in my eyes, that counts as broken.

Do you have any biological children? This child is not yours, you made that sufficiently clear.

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