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Autism mutations drive neurodevelopmental pathology

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Re: Autism mutations drive neurodevelopmental pathology

#81

Post by hangsi »

roughly wrote: post #62
imzadi wrote: post #29

Earlier quoted context omitted.

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 mutation…

To aid curious readers, the cell biology term for this (many genes to do X) is pleiotropy. The Wikipedia article [0] conveniently includes a discussion on its relevance in autism.

[0] https://en.wikipedia.org/wiki/Pleiotropy

Re: Autism mutations drive neurodevelopmental pathology

#82

Post by RobotToaster »

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…

Isn't there likely a large epigenetic component?

Re: Autism mutations drive neurodevelopmental pathology

#83

Post by Alex3917 »

coldtea wrote: post #67
Alex3917 wrote: post #61

Earlier quoted context omitted.

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.

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.

Re: Autism mutations drive neurodevelopmental pathology

#84

Post by ElijahLynn »

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…

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

Re: Autism mutations drive neurodevelopmental pathology

#85

Post by kulahan »

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.

Ah, I can see how that would be the case. But I thought it was moving in the other direction? I am extremely ignorant here, so correct me, but the only example I know of is that they removed Asberger's Syndrome and turned it into generic Autism.

Re: Autism mutations drive neurodevelopmental pathology

#86

Post by SubiculumCode »

longhaul wrote: post #63
SubiculumCode wrote: post #37

Earlier quoted context omitted.

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…

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 population, as well as those who are non-verbal, have extreme specific phobias and anxiety, sensory sensitivities, self-injurious behaviors: the full spectrum. 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.

[1] https://pmc.ncbi.nlm.nih.gov/articles/PMC8801875/

Re: Autism mutations drive neurodevelopmental pathology

#87

Post by [deleted] »

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…

[deleted]

Re: Autism mutations drive neurodevelopmental pathology

#88

Post by wredcoll »

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?

I'm reminded of an anecdote I heard once from a psych(ologist/iatrist?) that goes something like: if you think you hear voices in your head, but the voices tell you to go to bed on time and drink plenty of water, you don't need a diagnosis/treatment.

The point is that a lot of things, when it comes to humans and their brains, is judged first based as to whether or not it negatively affects your life. Think of how we define addiction.

Re: Autism mutations drive neurodevelopmental pathology

#89

Post by SubiculumCode »

djaro wrote: post #20
forestrywat wrote: post #11

Earlier quoted context omitted.

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.

There is interesting evidence that autism-autism social interactions are fairly vibrant. Everything is a bit more complicated than simple answers, no matter which way you swing.

Re: Autism mutations drive neurodevelopmental pathology

#90

Post by wredcoll »

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.

What is the incidence per million over the last couple of decades?
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