It's important to note that models that use genome wide association analysis have demonstrated extremely high predictive value across large cohorts sharing geography but are very poor when applied on a geographically distinct population. This suggests that although autism has a strong association with genetics, neurophysiology unique to autism develops in the context of highly complex genetic associations that are likely subject genetic drift across population and time.
When we have a a few genes of interest that are important in screening for a rare disease we accept that novel variants will continue to be identified throughout the years as more people are screened. Autism as a prevalence of 1-3%. I don't remember the exact number but I think something like 30% of autism diagnoses are believed to be secondary to fairly severe but distinct genetic syndromes. So when we talk about a subgroup of autism without clear etiology we are looking at a fraction of 70% of 3% of the population. We're approaching rare disease territory when we talk about subgroups within autism. A rare disease with a highly complex genetic association across the genome that is subject to genetic drift is not a good candidate for genetic screening.
All that being said, studies like this may provide valuable insight into what microbiology is being influenced, even if we can't reliably predict which variants are responsible. Id love to see future investigations relate genetics to biomarkers instead of behavioral tests in autism.
> This suggests that although autism has a strong association with genetics, neurophysiology unique to autism develops in the context of highly complex genetic associations that are likely subject genetic drift across population and time.
Wouldn't it be more likely local culture and brain plasticity are the cause of these differences?
Autism can be reliably diagnosed at 2.5 years of age, so we probably aren't looking at a strong cultural bias in in how kids are presenting with autism. These models using data from countries where the healthcare systems provides support for appropriate screening and testing further minimizing bias due to culture. In other words, one would not expect these models to be overfit to phenotypically distinct representations of autism as a result of culture.
Variations in brain plasticity have been suspected of playing a role in autism for a long time. Brain plasticity may vary by region, throughout development, and at a molecular level. If population dependent variations in plasticity are indeed responsible for the lack of model generalizability, then the next step would be to do as I previously suggested. That is, identify where the many genome wide variations converge on biomarkers driving differences in plasticity.
> Autism can be reliably diagnosed at 2.5 years of age, so we probably aren't looking at a strong cultural bias in in how kids are presenting with autism. These models using data from countries where the healthcare systems provides support for appropriate screening and testing further minimizing bias due to culture.
I'm not talking about bias due to culture but culture having a real physical effect on development. It wouldn't be noticeable in toddlers but would in older children, if present.
> Brain plasticity may vary by region,
That was my point, that local culture can play a large role in shaping how autism can manifest.
> then the next step would be to do as I previously suggested. That is, identify where the many genome wide variations converge on biomarkers driving differences in plasticity.
I think it would make sense to evaluate adults from different cultures with same or similar autism types and compare and contrast their neurology.
The problem was that a diagnosis of Asperger's was unreliable and therefore useless. We definitely need to identify individuals within the diagnosis of autism spectrum disorder that can reliably be identified and benefit from specific interventions. However, Asperger's did not provide that.
I think this is precisely why for-profit healthcare is wild. If it weren’t for ideology we could get behind socialised care and cut out all of the nonsense.
Mostly anecdotal, my school psychologist back in the day sure believed it, and this would vary from place to place. She was a champion of "You give children the diagnosis that gives them the services they need". Autism being the one which gave children the services they needed, and she often expressed frustration at not being able to get such a diagnosis.
In general Aspergers basically meant no verbal delays, where Autism meant verbal delay. Autism was also around longer as a diagnosis. In general, I think theres a reason they changed the name of Aspergers to Autism and not the other way around.
Interesting that the diagnosis of autism apparently wasn't available to her. Do you know what she would have been referring to by the autism diagnosis being able to get children the services they needed, that the "asperger's" diagnosis would not?
It can be helpful to get a diagnosis of autism for kids in public school. Kids end up needing additional one on one time and resources are limited. Those with the biggest problems are the first to be approved for these resources, and a formal diagnosis makes it easier to get that approval.
Asperger's was not reliably diagnosable between healthcare workers trained to diagnose it. In other words, a diagnosis of Asperger's in someone's medical chart was not a reliable way of knowing if they had Asperger's.
This isn't really providing any clarity to the question, since you're simply restating your previous claim. How is a diagnosis of autism any more reliable?
As in it has a higher inter rater reliability. The statistical term of reliability that is used when describing the likelihood to reproduce a measure under similar conditions.
What matters here is not the general inter-rater reliability for all autism diagnoses, but only those for the patients which would have otherwise been described as having Asperger's, which can often present as a very mild disorder. Given that many Asperger's cases are mild, it is no surprise that there is low inter-rater reliability. Is there evidence that for this type of individual, there is a higher inter-rater reliability with the diagnosis of "autism"?
I'd argue that having the descriptor of "asperger's" is much more useful than simply having a blanket descriptor of "autism". Low functioning people who are described as having autism, have very little in common with most of the high functioning type.
Do you really need a citation that a non-verbal, uncommunicative and non-independent "non-functional" traditional autism case is different from what would often be referred to as "Asperger's", which is common amongst software developers? Or take people like Elon Musk, Bill Gross and David Byrne, who all claim to have Asperger's, Bill and David having been formally diagnosed. These people, who achieved great success, and went through most of their lives without needing a diagnosis, are clearly nothing like the non-functional patients with clearer traditional cases of autism.
First you claimed that they "have very little in common", and now merely that it "is different"... although in the next sentence you go back to "clearly nothing like"?? You seem quite undecided about what you actually want to say.
They're obviously "different", but there's plenty of reasons to believe that they have a lot in common, so going against established science should require some citations.
Even TND appears to be very regionally specific and may have important differences across development in autism. The most exciting thing are differential findings of density of dendrites vs neuron cell bodies. We haven't looked at that so much in autism and when we take that into account, suddenly a bunch of new regions pop up.
Working in a psych unit trying to improve this process is really eye opening. Some key doctors have put in the effort to turn the inpatient floor from weeks of being trapped to identifying these situations where people simply need actual support established. There's even a special 72 hour turn around program recognizing this situation where the system has failed and what we need is rapid stabilization and setting up the proper support for the person to have therapists, medicine, and support groups while still living their lives. It still has flaws, but there are people that care and are working overtime to fix the system. It's just a very slow process.
As far as psychiatric health goes, its highly variable. I have a friend that I talked to last night that is working with Medicaid to revamp how they bill this kind of stuff because a lot of it is rejected by insurance since it doesn't fit within a clearly covered area. Getting small areas or sustainable coverage established like this can sometimes be a path forward to broader adoption. But that's still pretty optimistic thinking
I've never subscribed to any only fans so my only exposure is checking out twitch. I assume there's a difference in that movies don't act like they're talking to you as an individual person. Also, parasocial is a fairly newly emerging term and I don't think we can clearly define everything that facilitates it, but we can easily identify some of the outcomes
I'm going to apologize for my ignorance upfront here, but I was under the impression that China isn't protecting local companies. It is making the companies it can directly control the only available option. Perhaps you're referring to something other than just controlling technology and information. I'd be interested in knowing more if there's something specific you had in mind
I'd be curious about what the authors thoughts are on this molecule decreasing the threshold for seizures. I know they reported there were no clearly adverse effects throughout the study, but it's not like they had the mice on continuous EEG for epileptic events.
There are drugs in use today that lower seizure threshold, e.g. some antidepressants. So I guess it's be a question of how much it decreases the seizure threshold and whether it's a worthwhile tradeoff.
When the alternative is an unstoppable decline ending in death, I think pretty severe side-effects could be considered acceptable.
I know there are some extreme cases reported where antidepressants were associated with seizures, but from what I understand that's extraordinarily rare. I don't just mean it's rare in clinical trials and research. None of the physicians I've worked with have seen changes in seizure activity following years of SSRI use. The research in that area has also seemed to have petered out without an obvious mechanism or associated population to further explore.
The closest thing I can think of is high dose stimulants causing tonic clinic seizures, but I'd be curious if the unintentional hyperactivity of neurons in stimulants is physiologically similar to increasing oscillatory activity.
I'm not an expert in antiepileptics though so it'd be nice to get some more perspectives here
When we have a a few genes of interest that are important in screening for a rare disease we accept that novel variants will continue to be identified throughout the years as more people are screened. Autism as a prevalence of 1-3%. I don't remember the exact number but I think something like 30% of autism diagnoses are believed to be secondary to fairly severe but distinct genetic syndromes. So when we talk about a subgroup of autism without clear etiology we are looking at a fraction of 70% of 3% of the population. We're approaching rare disease territory when we talk about subgroups within autism. A rare disease with a highly complex genetic association across the genome that is subject to genetic drift is not a good candidate for genetic screening.
All that being said, studies like this may provide valuable insight into what microbiology is being influenced, even if we can't reliably predict which variants are responsible. Id love to see future investigations relate genetics to biomarkers instead of behavioral tests in autism.