Integrating variants in 42k autism cases identifies mutations in new genes(nature.com)
nature.com
Integrating variants in 42k autism cases identifies mutations in new genes
https://www.nature.com/articles/s41588-022-01148-2
122 comments
Good point. The number of diagnoses is also bound by mental health service capacity, which suggests that whilst in the past only very severe cases would be diagnosed, now many more are (as funding increases [1]).
The nature of health care also means that some of these conditions are "middle class" diseases, meaning that if you have the money to spend you can get diagnosed more quickly. There is some evidence of abuse of this, where wealthy parents get their children diagnosed in order to get school exams re-taken, etc. In general though, the diagnoses are spreading from the most severe to the middle of the range.
For those neurodiverse who can manage reasonably well in society by presenting well behaviourally, knowing ones own neurotype can be incredibly helpful, even if you do not take any further action after the diagnosis.
1. https://www.statista.com/statistics/252393/total-us-expendit...
The nature of health care also means that some of these conditions are "middle class" diseases, meaning that if you have the money to spend you can get diagnosed more quickly. There is some evidence of abuse of this, where wealthy parents get their children diagnosed in order to get school exams re-taken, etc. In general though, the diagnoses are spreading from the most severe to the middle of the range.
For those neurodiverse who can manage reasonably well in society by presenting well behaviourally, knowing ones own neurotype can be incredibly helpful, even if you do not take any further action after the diagnosis.
1. https://www.statista.com/statistics/252393/total-us-expendit...
> knowing ones own neurotype
How does one going about finding their neurotype?
How does one going about finding their neurotype?
Great point, really well said. I don't want to go too far into the weeds on this, but mental illness in general is socially-defined and situation-dependent. Not to say it's not real, but it's affected by observation/treatment in a way that physical stuff isn't.
> To summarize my point, there's all sorts of genetic stuff that will end up completely unrelated with being autistic, but will end up correlated with getting diagnosed as autistic.
It would be interesting to see, of the people that share these de-novo mutations, who have the genotypes, but not the phenotypes – or see if some people have been treading water as undiagnosed autistic their whole life and give them some insight as to why navigating a neurotypical world is so difficult for them.
It would be interesting to see, of the people that share these de-novo mutations, who have the genotypes, but not the phenotypes – or see if some people have been treading water as undiagnosed autistic their whole life and give them some insight as to why navigating a neurotypical world is so difficult for them.
Excellent point well said.
It's part of why I find the neurodivergency movement likely harmful.
It's the functional impairment that defines disease. Traits which help classify the disease if one is present are present in those without disease.
Shifting the definition from functional impairment to those traits is not a good thing.
It's part of why I find the neurodivergency movement likely harmful.
It's the functional impairment that defines disease. Traits which help classify the disease if one is present are present in those without disease.
Shifting the definition from functional impairment to those traits is not a good thing.
Just because you're able to get through life doesn't mean there's not a lot of value in understanding yourself better.
If by understand yourself you mean pretend to have a diagnosable condition then there is something wrong.
Claiming to have autism with no detectable impairment is like me claiming to be blind because despite having 6/6 vision (i.e. normal) because that's is actually worse than average vision for my age group (6/5 is average healthy young adult vision).
Claiming to have autism with no detectable impairment is like me claiming to be blind because despite having 6/6 vision (i.e. normal) because that's is actually worse than average vision for my age group (6/5 is average healthy young adult vision).
Autism has been rising over the years.
Either it's been under diagnosed, or it's hard to believe it's a purely genetic problem. Even though some people might be susceptible to triggers. At the same time, something could be messing up our DNA.
This article suggests, next to under & over diagnoising, late parenting and obesity in moms.
https://www.verywellhealth.com/is-there-a-real-increase-in-t....
Either it's been under diagnosed, or it's hard to believe it's a purely genetic problem. Even though some people might be susceptible to triggers. At the same time, something could be messing up our DNA.
This article suggests, next to under & over diagnoising, late parenting and obesity in moms.
https://www.verywellhealth.com/is-there-a-real-increase-in-t....
I think public awareness is a pretty major contributor to these "epidemics", often in synergy with media. We've had a lot of autism-spectrum-type characters in the 00s and 10s. This speaks quite loudly to the effect: https://en.wikipedia.org/wiki/List_of_autistic_fictional_cha...
There is a lot more portrayals in the 2000s than before.
Without awareness of autism-spectrum disorders, someone on the spectrum would probably have been considered shy, eccentric, anxious, aloof, and/or a bit stupid.
There's previously been similar "awareness booms" with regard to anxiety, depression, OCD and ADHD. This has roughly coincided with the introduction of Xanax, SSRIs, Ritalin, and so forth.
There is a lot more portrayals in the 2000s than before.
Without awareness of autism-spectrum disorders, someone on the spectrum would probably have been considered shy, eccentric, anxious, aloof, and/or a bit stupid.
There's previously been similar "awareness booms" with regard to anxiety, depression, OCD and ADHD. This has roughly coincided with the introduction of Xanax, SSRIs, Ritalin, and so forth.
Some of these issues can also be clouded by the accomodations that are put in place for them being perceived as incentives. The impact of a diagnosis on school and university examinations, for instance (eg. 25% extra time), is widely recognized as being significant, and they are highly sought-after as a result, with some people being more adept at securing a diagnosis for their child than others.
There may be one or two parents who do this but trust me that the process of seeking help for an autistic child is not fun. I don’t see how anyone can go through this for those reasons, it’s really hard emotionally.
Dyslexia is another similar one.
And kind of similar is treatment of left-handed people - it was routine through about the 70s to try to "correct" that.
And kind of similar is treatment of left-handed people - it was routine through about the 70s to try to "correct" that.
Goes back a long way. It used to be the four temperaments of melancholic, phlegmatic, sanguine and choleric were the basis vectors for explaining human behavior. That's absolutely a way you can reason about things.
Psychology, whether modern or ancient, creates a language for speaking about our experiences and the behavior of others, which shapes our way of thinking about it in an almost Saphir-Whorf:ian way.
Psychology, whether modern or ancient, creates a language for speaking about our experiences and the behavior of others, which shapes our way of thinking about it in an almost Saphir-Whorf:ian way.
One one hand, I believe that, to some degree, awareness creates the disease.
On the other, I see it as a sign of societal progress and even decadence. Compared to all the other ways people can be defective, these mental issues are pretty low-stakes. If depression and anxiety are occupying this much of our mindspace, there must not be bigger problems to worry about.
On the other, I see it as a sign of societal progress and even decadence. Compared to all the other ways people can be defective, these mental issues are pretty low-stakes. If depression and anxiety are occupying this much of our mindspace, there must not be bigger problems to worry about.
As with every comment I write on this topic, there are surely different disorders called "autism" that are being lumped together. So their causes may actually be different.
If you leave a child alone with no human contact, it becomes autistic very quickly. So there's definitely types of autism that come from parenting.
But I would be shocked if autism at birth it is not being caused by environmental pollution and low nutrition diets. Which adds a tremendous body count on top of the already monumental body count directly attributed to the FDA and EPA, and the many political bodies that govern them.
If you leave a child alone with no human contact, it becomes autistic very quickly. So there's definitely types of autism that come from parenting.
But I would be shocked if autism at birth it is not being caused by environmental pollution and low nutrition diets. Which adds a tremendous body count on top of the already monumental body count directly attributed to the FDA and EPA, and the many political bodies that govern them.
> If you leave a child alone with no human contact, it becomes autistic very quickly.
Citation needed. This is not accurate without some aggressive hedging on what we're calling autistic. Lack of socialization does tend to manifest in less social behaviors later on. And less social behaviors are common among autistic people. But that's not the same as saying lack of socialization causes autism.
Citation needed. This is not accurate without some aggressive hedging on what we're calling autistic. Lack of socialization does tend to manifest in less social behaviors later on. And less social behaviors are common among autistic people. But that's not the same as saying lack of socialization causes autism.
I think this poster has an axe to grind, but there is definitely significant overlap between symptoms of child abuse/neglect and early signs of ASD and other mental disabilities. I am on mobile, and cannot right now give a compact source, but the lists on Mayo etc. have a lot of overlap.
There's also overlap between a stab wound and a heart attack. You may say there's a cardiac related problem, but you don't have a stab wound just because you have some of the overlapping symptoms.
Neglect can cause a host of behavioral and neurological issues but they're not autism. Medical literature consensus is pretty clear on this. It was a popular theory many decades ago. It's not held up to scrutiny.
Neglect can cause a host of behavioral and neurological issues but they're not autism. Medical literature consensus is pretty clear on this. It was a popular theory many decades ago. It's not held up to scrutiny.
Medical literature and consensus says autism is one disorder with a spectrum of symptoms and that Aspbergers is not a unique disorder and that is currently wrong. So citing some other very similar research isn't going to do anything for me.
Autistic children are born not caring for faces, or eyes, and social interaction. Feral children do not have eyes or faces or social interaction to look at. So if it's not technically autism, it's not any different than the myriad of disorders currently lumped together as autism.
Autistic children are born not caring for faces, or eyes, and social interaction. Feral children do not have eyes or faces or social interaction to look at. So if it's not technically autism, it's not any different than the myriad of disorders currently lumped together as autism.
Perhaps you should be more upfront when using a personal, not medically accepted definition of a condition when discussing its root causes
What's the point of using the medically accepted definition of a condition when it is wrong?
> What's the point of using the medically accepted definition of a condition when it is wrong?
Since you seem to have no opposition to using personal definitions of things based on personal opinions without feeling the need to clarify, I'm glad you agree with me 100%
Since you seem to have no opposition to using personal definitions of things based on personal opinions without feeling the need to clarify, I'm glad you agree with me 100%
If you want to actually engage with the topic instead of trying to start shit with me, that would be a lot more productive.
If you want to communicate, don't assert facts about things while secretly using your own definitions. That would be a lot more pudding.
In this case, to be clear, pudding means productive.
In this case, to be clear, pudding means productive.
> but you don't have a stab wound just because you have some of the overlapping symptoms
Nobody said this was true for autism. Only that resulting misdiagnoses may be contributing to the uptick.
Nobody said this was true for autism. Only that resulting misdiagnoses may be contributing to the uptick.
Nobody qualified did. But the parent that started this thread did.
> If you leave a child alone with no human contact, it becomes autistic very quickly. So there's definitely types of autism that come from parenting.
> If you leave a child alone with no human contact, it becomes autistic very quickly. So there's definitely types of autism that come from parenting.
Aren’t wealthier families more likely to have autistic kids? Wouldn’t this contradict your statement of environmental pollution and low nutrition diets?
It would at least appear that children from wealthier families are being diagnosed with autism at a higher rate. Perhaps pollution/nutrition is actually a dead end, or maybe autism is less likely to be missed in the children of wealthy parents, or perhaps diagnosis is more subjective, enabling doctor-shopping, and there are perceived benefits associated with a diagnosis. It would be interesting to compare the rates of autism diagnosis amongst the children of teachers and psychologists compared to lower/middle/upper classes at large.
It could also be that milder forms are an asset in an information based economy
I haven't seen the data around wealthier families. But wealthier families have more access to healthcare and can get earlier (and more thorough) diagnosis than poor ones. So unless there was some kind of control for access to healthcare, I would question that correlation.
This. We're relatively wealthy (typical middle management salaries) and it took a string of doctor appointments over many months to get a diagnosis for our son. Several of these were multi-hour sessions. In addition to the time off work to attend appointments, there was time on the phone, time on the internet, time talking to school counselors/teachers, scheduling IEP meetings at school, and probably other stuff I've long since forgotten. There wasn't a lot of out-of-pocket cash cost (because decent insurance, not guaranteed in the US), but the time and mental energy expended was significant on its own.
And, 100% anecdotal, but my wife's brothers both have similar personality traits as our son. Neither was diagnosed (and as far as I know, neither tested - this would have been in the 70s and 80s). Both ended up as typical middle-class, working-class Americans (own modest homes, but no appreciable wealth beyond that).
And, 100% anecdotal, but my wife's brothers both have similar personality traits as our son. Neither was diagnosed (and as far as I know, neither tested - this would have been in the 70s and 80s). Both ended up as typical middle-class, working-class Americans (own modest homes, but no appreciable wealth beyond that).
callalex(1)
Almost certainly undiagnosed. A similar thing happened when we stopped stigmatizing left handedness. There was a sharp increase in lefties over the next decade, then it leveled off at whatever the natural point is.
I expect autism, depression, trans identities, lgb identities, etc. are all things that are becoming more accepted and we're going to see a sharp rise in them followed by them leveling off at whatever the natural level is.
I expect autism, depression, trans identities, lgb identities, etc. are all things that are becoming more accepted and we're going to see a sharp rise in them followed by them leveling off at whatever the natural level is.
Don’t underestimate under-diagnosis.
Over the last century the number of people who are left handed rose from ~4% to ~12%. What happened? We stopped punishing children for writing left handed and forcing them to write right handed.
We like to blame this like autism and ADHD on emotional factors like screen time. Maybe there’s some truth to that. But I firmly believe that a lot of neurodivergence can be explained by better diagnosis and less punishment.
Over the last century the number of people who are left handed rose from ~4% to ~12%. What happened? We stopped punishing children for writing left handed and forcing them to write right handed.
We like to blame this like autism and ADHD on emotional factors like screen time. Maybe there’s some truth to that. But I firmly believe that a lot of neurodivergence can be explained by better diagnosis and less punishment.
Dont underestimate over diagnosing in these overbearing times.
I can believe it's mostly genetic; in these days of social and geographical mobility you're more likely to mate with someone in the same industry rather than say your high school sweetheart.
And more likely to mate with someone with a different cultural background, which has a greater impact on our genetics.
An autism diagnosis means that you're too autistic to function in society without causing mental health professionals to be involved in your life. There's at least two easily identifiable non-genetic factors: society can lower the threshold of autistic behavior that it tolerates, and mental health professionals can be involved more often and at lower general thresholds.
Not necessarily. I did a neuropsychological evaluation because I suspected I had ADHD (I do) and it was causing me trouble. I was also diagnosed with autism/asperger's which isn't a significant source of stress for me and that wasn't why I was diagnosed with it.
In very few cases it is purely genetic, like these de novo cases they are finding, but the majority of cases are not.
I want to throw this out there, not as something I believe, but as an idea to be discussed, that one factor in the rise of Autism might be the sudden rise in wealth of a new type of person (programmers, engineers, etc) which led to different mating patterns and a sudden change in the genetics of the children born to these couples. Or even just a change in how they raise the kids and what food they eat.
I want to throw this out there, not as something I believe, but as an idea to be discussed, that one factor in the rise of Autism might be the sudden rise in wealth of a new type of person (programmers, engineers, etc) which led to different mating patterns and a sudden change in the genetics of the children born to these couples. Or even just a change in how they raise the kids and what food they eat.
Let's go back a bit and call it "the rise of the accountant". I don't think there's been rich programmers in significant numbers to for enough time to have moved the genetic needle all that much.
But widen the category a bit and you'll find that the rewards for a relatively obsessive attention to detail and being comfortable with numbers have shifted in the past five centuries or so, from a one way trip to the monastery (if you were lucky) to a comfortable middle class life style, family included.
But widen the category a bit and you'll find that the rewards for a relatively obsessive attention to detail and being comfortable with numbers have shifted in the past five centuries or so, from a one way trip to the monastery (if you were lucky) to a comfortable middle class life style, family included.
HA! I like that. But seriously, all it takes is one generation for Autism to appear if the genetics for it are present in the parents.
These people who were "accountants" were always working for the rich, never rich themselves.
By the way, my father was an accountant (Went to NYU when he was 16 back in 1951) and he later ended up working on some of the first office computers. And here I am, being told in my 50s that I am probably on the spectrum. My mother was from a poor coal mining family in PA and she ran away to NYC to find here way out of that life when she met my father.
These people who were "accountants" were always working for the rich, never rich themselves.
By the way, my father was an accountant (Went to NYU when he was 16 back in 1951) and he later ended up working on some of the first office computers. And here I am, being told in my 50s that I am probably on the spectrum. My mother was from a poor coal mining family in PA and she ran away to NYC to find here way out of that life when she met my father.
My dad is an accountant. I joke sometimes that I got my dad's Autism and my mum's ADHD. Dunno who gave me dyslexia though.
I imagine it's heavily epigenetic.
In other words you need to have the genes for autism, but the genetic switches (epigenetics) that control if a gene is on or off need to be switched. Those switches are also sometimes heritable.
In other words you need to have the genes for autism, but the genetic switches (epigenetics) that control if a gene is on or off need to be switched. Those switches are also sometimes heritable.
Why not both? How about modern world makes it easier for autists to reproduce?
People with high functioning autism are more likely to have children than neurotypicals, so there is some favourable selection pressure as well.
This is surprising. I would have assumed the opposite (people with high functioning autism seem less susceptible to social pressure to have children, and more likely to use birth control, for example.)
Any guesses as to why?
Any guesses as to why?
Do you have a source for this claim? I'm not doubting you, genuinely interested (my now-adult son is on the spectrum).
The less strong claim is that people with functioning autism reproduce more than they did before
Or maybe now is "over diagnosed".
I met low functioning autistic people and I consider them "real autistic", it's almost impossible to have a social contact with them. I don't think who call autism a "superpower" should be called autistic. Or the way around, classification is a mess, autism class it's too broad.
The existence of severe cases does not mean less severe cases don't count.
Maybe. Calling it a spectrum is an accurate term, and thus, pretty much everybody is on the spectrum. It's not a one dimensional spectrum of course, but like... I'm probably a high functioning aspie. Prone to obsessions, highly temperature sensitive, didn't really grok some basic aspects of socialization until I manually learned some social rules in high school. But it's not severe enough to be noteworthy and you wouldn't think anything was categorically different unless you were thinking within that framework already. Just a bit geeky really.
The issue comes in when people want to contextualize it as a disease as an implied bad thing.
The issue comes in when people want to contextualize it as a disease as an implied bad thing.
I didn't mean that, I mean they should count differently. An autistic guy you couldn't literally touch without him screaming can't be counted in the same class of autistic people that social interact much more.
It's a largely U.S. problem, same with many other disorders. The industrial era has put so many carcinogens into the air, water, and food that there is bound to be changes.
Combine this with American culture of being unhealthy, and now families are started far later in life - it's a "no duh" situation.
Combine this with American culture of being unhealthy, and now families are started far later in life - it's a "no duh" situation.
Very cool to identify that "autism" is genetic. But I'm certain that there is no such thing as "autism" but a varying set of disorders with vaguely similar symptoms.
So there could be one kind of autism that is 100% genetic and the rest are 0% genetic. But we don't know, because we are still lumping them together.
So there could be one kind of autism that is 100% genetic and the rest are 0% genetic. But we don't know, because we are still lumping them together.
My son has autism and through his schools and colleges I have known 100s of "autistic" kids and young adults. There is such variety in their traits and behaviours.
I honestly don't find the label useful, I would say I am getting increasingly annoyed by it.
There should be more work done on sub-classifications and grouping of different sub-conditions.
I honestly don't find the label useful, I would say I am getting increasingly annoyed by it.
There should be more work done on sub-classifications and grouping of different sub-conditions.
There should be more work done on sub-classifications and grouping of different sub-conditions.
Interesting that you say that, as recently, society has moved in the other direction (dropping Aspergers as an independent diagnosis, instead lumping it in with ASD, for example).
As another parent of an autistic son, I at least partly agree. The label "autism" on its own is mostly useless. The individual symptoms are much more useful to identify and work around/treat. But, that would just leave you with a laundry list of things to write/say/describe, so also of limited value outside medical/professional contexts.
"He's autistic" vs "He has a severe executive functioning deficit, moderate OCD, mild ADD, stims in this particular way, and doesn't make eye contact with strangers."
Interesting that you say that, as recently, society has moved in the other direction (dropping Aspergers as an independent diagnosis, instead lumping it in with ASD, for example).
As another parent of an autistic son, I at least partly agree. The label "autism" on its own is mostly useless. The individual symptoms are much more useful to identify and work around/treat. But, that would just leave you with a laundry list of things to write/say/describe, so also of limited value outside medical/professional contexts.
"He's autistic" vs "He has a severe executive functioning deficit, moderate OCD, mild ADD, stims in this particular way, and doesn't make eye contact with strangers."
> I honestly don't find the label useful, I would say I am getting increasingly annoyed by it.
The exact same thing is happening to Long COVID:
A small number of people are truly devastated by post-COVID issues that can last for years (or more, we don’t know yet).
A much larger number of people have some milder post-COVID issues that can linger for months or longer, but don’t otherwise wreck their life.
The problem is that both groups are being lumped into the “Long COVID” description, which is a huge disservice to those severely debilitated by post-COVID issues. It’s getting so bad that a lot of people don’t believe Long COVID can be a serious issue because everyone they’ve seen with “Long COVID” has relatively mild symptoms and they’re just not seeing the more rare Long COVID sufferers who have serious issues.
We really need to stop lumping mild and serious conditions under the same label
The exact same thing is happening to Long COVID:
A small number of people are truly devastated by post-COVID issues that can last for years (or more, we don’t know yet).
A much larger number of people have some milder post-COVID issues that can linger for months or longer, but don’t otherwise wreck their life.
The problem is that both groups are being lumped into the “Long COVID” description, which is a huge disservice to those severely debilitated by post-COVID issues. It’s getting so bad that a lot of people don’t believe Long COVID can be a serious issue because everyone they’ve seen with “Long COVID” has relatively mild symptoms and they’re just not seeing the more rare Long COVID sufferers who have serious issues.
We really need to stop lumping mild and serious conditions under the same label
> A small number of people are truly devastated by post-COVID issues that can last for years (or more, we don’t know yet).
I would argue that we do know, but that the instances of it are so stigmatized that doctors and the media are blind to it. Other diseases like POTS, MCAS, & EDS seem to have a lot in common with long COVID and look to me to be basically the same thing triggered by a different virus.
My spouse has suffered from them for about 12-15 years now. It's particularly infuriating because there are even clinics set up for studying and treating long COVID for all the symptoms she has, but she isn't allowed in them because she's never had COVID. Hers definitely appears to have started after getting mono as a teenager. She was hit really hard, but after about 6 months was back to normal. Then in her late 30s it hit her and now she can't work or do much of anything. When she stands up, her heart rate can go up to 130bmp just standing and doing nothing. She starts to white out, but unlike some doesn't actually pass out, which may actually be worse.
It's actually kind of a relief to have a large group of people very visibly get the same symptoms in a way that makes it much harder to dismiss as anxiety or depression. Hopefully if anything good comes out of COVID it will be that long COVID-like diseases will be studied and better understood.
I would argue that we do know, but that the instances of it are so stigmatized that doctors and the media are blind to it. Other diseases like POTS, MCAS, & EDS seem to have a lot in common with long COVID and look to me to be basically the same thing triggered by a different virus.
My spouse has suffered from them for about 12-15 years now. It's particularly infuriating because there are even clinics set up for studying and treating long COVID for all the symptoms she has, but she isn't allowed in them because she's never had COVID. Hers definitely appears to have started after getting mono as a teenager. She was hit really hard, but after about 6 months was back to normal. Then in her late 30s it hit her and now she can't work or do much of anything. When she stands up, her heart rate can go up to 130bmp just standing and doing nothing. She starts to white out, but unlike some doesn't actually pass out, which may actually be worse.
It's actually kind of a relief to have a large group of people very visibly get the same symptoms in a way that makes it much harder to dismiss as anxiety or depression. Hopefully if anything good comes out of COVID it will be that long COVID-like diseases will be studied and better understood.
As someone who has family with mid to low functioning autism, I find the label mix ups to be absolutely infuriating.
When someone calls autism a "superpower" I have to leave the environment or log off before I say something awful.
When someone calls autism a "superpower" I have to leave the environment or log off before I say something awful.
Yeah, i'm glad someone else finds that as infuriating as I do!
"it's a spectrum" is just a lazy out, there needs to be proper classification or we are never going to get further with diagnosis and treatment.
"it's a spectrum" is just a lazy out, there needs to be proper classification or we are never going to get further with diagnosis and treatment.
"political spectrum" is a term that frames viewpoints on a line from "good" to "bad", when actually there are so many political issues that the number of dimensions makes it hard to call it a spectrum.
Electromagnetic waves are an actual spectrum, if you only look at the frequency.
Electromagnetic waves are an actual spectrum, if you only look at the frequency.
Behaviors observed by others is far different from experiences of people who are actually autistic. Just because behavior (an outward expression) is not always consistent does not mean the label is useless.
Even as a neuro-divergent (and very likely autistic, but not diagnosed) person I struggle to understand my actually diagnosed autistic childrens' (plural) experiences.
One thing I think is fairly common is the sensitivity to pain (physical or emotional) is typically much stronger to the point of trauma that would be nothing for a "neurotypical". Whether or not that trauma is expressed outwardly (or in a specific way) varries greatly from person to person.
Even as a neuro-divergent (and very likely autistic, but not diagnosed) person I struggle to understand my actually diagnosed autistic childrens' (plural) experiences.
One thing I think is fairly common is the sensitivity to pain (physical or emotional) is typically much stronger to the point of trauma that would be nothing for a "neurotypical". Whether or not that trauma is expressed outwardly (or in a specific way) varries greatly from person to person.
But I'm certain that there is no such thing as "autism" but a varying set of disorders with vaguely similar symptoms.
That's the definition of autism, so you'd be correct. Autism is a diagnosis of the symptoms, not any particular cause. And a diagnosis covers a wide array of symptoms (often related to social interaction, but not always), of which any particular person might only have a few.
That's the definition of autism, so you'd be correct. Autism is a diagnosis of the symptoms, not any particular cause. And a diagnosis covers a wide array of symptoms (often related to social interaction, but not always), of which any particular person might only have a few.
I think we are mostly agreeing, but let me be specific here. The NIH starts by defining autism:
"Autism spectrum disorder (ASD) is a neurological and developmental disorder."
Defining autism as a DISORDER rather than common symptoms caused by a myriad of different disorders is where the issue is. I know we're doing a semantics game here, and doctors may full well understand this, but the public does not.
Then further:
"Autism is known as a “spectrum” disorder because there is wide variation in the type and severity of symptoms people experience."
Again, the spectrum is being defined as a variation of symptoms (with an implied common disorder), not a variation of disorders with similar symptoms.
Am I misunderstanding the word disorder here?
"Autism spectrum disorder (ASD) is a neurological and developmental disorder."
Defining autism as a DISORDER rather than common symptoms caused by a myriad of different disorders is where the issue is. I know we're doing a semantics game here, and doctors may full well understand this, but the public does not.
Then further:
"Autism is known as a “spectrum” disorder because there is wide variation in the type and severity of symptoms people experience."
Again, the spectrum is being defined as a variation of symptoms (with an implied common disorder), not a variation of disorders with similar symptoms.
Am I misunderstanding the word disorder here?
No, you’re not misunderstanding the word disorder. Autism encompasses a greater degree of heterogeneity than most other disorders. At some point in the future, we may very well break autism into several distinct sub groups. But at this time, efforts to do so have mostly failed. The removal of Asperger’s as a separate disorder being an example of this difficulty.
There may genetic propensity, but it may also be fueled by maternal stress during pregnancy (anecdotally possibly energy depravation of some kind or too high a cortisol level in the blood). From Moms of multiples in FB groups, the level of anxiety in each pregnancy in the same mom seems to result in similar baseline anxiety in the baby. In one case a very early delivery (27 weeks) in a mom with a very stressful professional environment during pregnancy lead to the most severe case. Very little seems to be done to investigate influence of stress, different types of food intake, sleep on the fetus during different pregnancies of the same parents.
I have to wonder if maternal stress is on the rise in any significant way. We can iterate though the list of stressors we all have today, but for millennial mothers have given birth in times war and famine and high infant mortality. Why would autism be more common now than then.
Maternal stress on the fetus has huge impact. In my mother's case, before, during and after preganancy, she was abused, starved (because my dad didn't want her to become fat), and suffered all around. I believe this is what contributed to my spectrum but I believe my dad also was on the spectrum but they just didn't have the words to identify it back then. So it is probably genetic mostly and environment also contributes.
Having said that its a big reason why I don't want children. I don't want to pass this on to them, on top of the PTSD I received from my dad and toxic environment.
I find it surprising that high functioning spectrum folks are more likely to have offsprings than neurotypal. Because there was a time when I wanted to start a family too.
Having said that its a big reason why I don't want children. I don't want to pass this on to them, on top of the PTSD I received from my dad and toxic environment.
I find it surprising that high functioning spectrum folks are more likely to have offsprings than neurotypal. Because there was a time when I wanted to start a family too.
Please, do not EVER try to come to any medical conclusions based on observations of a Facebook mom group. That is basically taking all of the known issues with anecdotes and distilling it into a self-amplifying disaster.
I just finished watching Extraordinary Attorney Woo Young Woo and while there are exaggerations, it has been a delightful show in highlighting the struggles of those on the spectrum.
In particular these quotes stand out:
"People on the spectrum have a pattern of rigidity and repeated behaviors"
"Don't answer questions that wasn't asked, don't do anything that you weren't asked to do"
In particular these quotes stand out:
"People on the spectrum have a pattern of rigidity and repeated behaviors"
"Don't answer questions that wasn't asked, don't do anything that you weren't asked to do"
Assuming these genetic causes fully explain autism (ie. there are no environmental factors), does that suggest that the percentage of the population with autism has remained approximately constant throughout recent history because it is caused by random mutations?
Here's a fun one. We will never know how common dyslexia was throughout history.
Literacy is recent. In the 1970s roughly 35% of the population was still illiterate. Go back further and you're looking at 10% or less. Most signs were pictorial. A blacksmith was denoted by an anvil, a tailor by a spool and needle, etc.
If you were dyslexic, you'd never know.
Autism is likely in a similar boat. Those individuals with less disruptive traits could probably find themselves doing well. Possibly joined the priesthood where they can apply their focus creating manuscripts. Or become hermits, where they could live somewhere less stimulating. Whereas those individuals with highly disruptive traits were probably treated quite poorly. Crammed into sanitariums or confined to monasteries to exorcise whatever evil spirit may have possessed them. Or simply died from being rejected by their families.
We can't really know. We can probably safely assume that while our knowledge of autism is new, it itself is not new.
Literacy is recent. In the 1970s roughly 35% of the population was still illiterate. Go back further and you're looking at 10% or less. Most signs were pictorial. A blacksmith was denoted by an anvil, a tailor by a spool and needle, etc.
If you were dyslexic, you'd never know.
Autism is likely in a similar boat. Those individuals with less disruptive traits could probably find themselves doing well. Possibly joined the priesthood where they can apply their focus creating manuscripts. Or become hermits, where they could live somewhere less stimulating. Whereas those individuals with highly disruptive traits were probably treated quite poorly. Crammed into sanitariums or confined to monasteries to exorcise whatever evil spirit may have possessed them. Or simply died from being rejected by their families.
We can't really know. We can probably safely assume that while our knowledge of autism is new, it itself is not new.
This paper is looking at both inherited genes, that is genes that you get from your parents, and de-novo mutations, that is a mutation that only the offspring has, that wasn't directly copied from a parent.
We've known for a while that autism is highly heritable. This paper builds on a large body of work that links specific genes to autism's heritability. I haven't dug into the specific breakdown, but my understanding is that a majority of genetic variants associated with autism are inherited, rather than the random de-novo (new) mutations.
We've known for a while that autism is highly heritable. This paper builds on a large body of work that links specific genes to autism's heritability. I haven't dug into the specific breakdown, but my understanding is that a majority of genetic variants associated with autism are inherited, rather than the random de-novo (new) mutations.
There is a correlation between the father’s age and ASD. People are having kids older now, so the answer is no, it’s unlikely that the percentage of people with ASD is constant throughout history.
No. All mutations are random. In the past, ASD might have been more or less adaptive than it is today.
To be clear, mutations are random, but polymorphisms are not.
People "on the spectrum" make the best engineers/scientists/artists. They are really good at concentrating.
Maybe a little autism is good for our society. Maybe we don't want to cure it so much as temper its more extreme cases.
Maybe a little autism is good for our society. Maybe we don't want to cure it so much as temper its more extreme cases.
That's a vast over-simplification and over-generalization of ASD. And completely ignores the negatives associated with these mutations.
I addressed that a whole 1 paragraph down.
Sometimes I think that refutation is inherently more attractive than discussion or support. What you think?
Sometimes I think that refutation is inherently more attractive than discussion or support. What you think?
Sorry, you made such a sweeping and incorrect generalization that I didn't think a detailed response was warranted. But, since you asked...
"really good at concentrating" by itself is not autism. And as a trait, it is far from universal among people who have ASD. And for those with ASD who can concentrate, that is sometimes to the point of being a disability (hyper-focus to the point of ignoring all else, including personal care). And there's really no such thing as "a little autism" - it's a spectrum defined by having some combination of a larger set of deficits.
If I come across a little snippy, it's because I raised a child on the spectrum. He's now a successful, independent adult, but it wasn't an easy process for him or the rest of the family.
"really good at concentrating" by itself is not autism. And as a trait, it is far from universal among people who have ASD. And for those with ASD who can concentrate, that is sometimes to the point of being a disability (hyper-focus to the point of ignoring all else, including personal care). And there's really no such thing as "a little autism" - it's a spectrum defined by having some combination of a larger set of deficits.
If I come across a little snippy, it's because I raised a child on the spectrum. He's now a successful, independent adult, but it wasn't an easy process for him or the rest of the family.
Not really, and the replier's point still stands. ASD has a wide range of phenotypes and not even close to all of them are "good at concentrating"
On the contrary, cognitive impairment is common in autism. You're probably thinking of attention deficit disorder which paradoxically may present with hyperattention, usually when something is very interesting to the patient.
I used the term "the spectrum". It covers everything from casual obsessives to serious handwavers
Just a technical note: "spectrum" in autism spectrum disorder doesn't refer to a scale from "mild" to "strong", but refers to a spectrum of symptoms/behaviors.
There is a broad spectrum of symptoms which fall under the autism spectrum. Everyone who has ASD, has a number of these symptoms but two people who both have ASD can easily have none of these symptoms in common.
There is a broad spectrum of symptoms which fall under the autism spectrum. Everyone who has ASD, has a number of these symptoms but two people who both have ASD can easily have none of these symptoms in common.
Which is another indication you are not very knowledgeable on the subject. ADD/ADHD are disorders on their own. It is a common comorbidity for people on the spectrum, but it's certainly not part of the spectrum.
Some aspies are awesome others are asshats — like anyone else. Am somewhat envious of the Vitalik types but at the same time I wouldn’t trade my “neurotypical” brain for an autistic one.
I am a social animal. I like getting along with people. I like being able to feel how others feel by hearing their tone of voice or looking at their face.
If I wanna concentrate I consume caffeine.
I am a social animal. I like getting along with people. I like being able to feel how others feel by hearing their tone of voice or looking at their face.
If I wanna concentrate I consume caffeine.
> . Am somewhat envious of the Vitalik types but at the same time I wouldn’t trade my “neurotypical” brain for an autistic one.
I'm genuinely curious, you'd want to be a person who developed perhaps one of the most needlessly complex and obtuse programing languages riddled with bugs and have an even more nebulous idea of what it's built for but assured everyone it was to revolutionize the World via something VC scammers would eventually call Web3 after failing to build the first 'global computer'?
To date, Vitalik represents exactly what HN seems to think about crypto; lots of promises with no real use-cases which all end up as vapourware and exit scams.
I've been in this since he was in an Unsystem member squatting with Amir, and to be honest the only way I can justify his trajectory was that he was always a scammer and was bidding his time, and just decided to take his scam and build an aura of mystique around his... condition as a marketing ploy to justify the horrible thing he has built that's led to countless hacks. Hacks that I personally hope are being used to fund more interesting and viable things, because there is no way you can explain going from building tools like dark wallet/market to crypto kitties and NFTs and have it make any sense other than sheer grift.
With that said, I've worked with outreach programs to reintegrate people on the severely incapacitated end of the autistic spectrum: and I wouldn't wish that on anyone. To live a life with no autonomy and have no real capacity to communicate or to articulate your thoughts is perhaps the worst type of hell I can think of as our very species 'Homo Sapien' translates to Wise Man and often refereed to as a thinking monkey and they have been robbed of their very Humanity.
I'm genuinely curious, you'd want to be a person who developed perhaps one of the most needlessly complex and obtuse programing languages riddled with bugs and have an even more nebulous idea of what it's built for but assured everyone it was to revolutionize the World via something VC scammers would eventually call Web3 after failing to build the first 'global computer'?
To date, Vitalik represents exactly what HN seems to think about crypto; lots of promises with no real use-cases which all end up as vapourware and exit scams.
I've been in this since he was in an Unsystem member squatting with Amir, and to be honest the only way I can justify his trajectory was that he was always a scammer and was bidding his time, and just decided to take his scam and build an aura of mystique around his... condition as a marketing ploy to justify the horrible thing he has built that's led to countless hacks. Hacks that I personally hope are being used to fund more interesting and viable things, because there is no way you can explain going from building tools like dark wallet/market to crypto kitties and NFTs and have it make any sense other than sheer grift.
With that said, I've worked with outreach programs to reintegrate people on the severely incapacitated end of the autistic spectrum: and I wouldn't wish that on anyone. To live a life with no autonomy and have no real capacity to communicate or to articulate your thoughts is perhaps the worst type of hell I can think of as our very species 'Homo Sapien' translates to Wise Man and often refereed to as a thinking monkey and they have been robbed of their very Humanity.
They may be assholes but gosh aren't they productive.
It reminds me of dwarves from Norse mythology. Short guys in their little workrooms underground banging away at projects. Grumpy. Making miraculous stuff. The shoe fits.
It reminds me of dwarves from Norse mythology. Short guys in their little workrooms underground banging away at projects. Grumpy. Making miraculous stuff. The shoe fits.
Very poetic way of putting it and I agree these are people we certainly need! Wouldn’t be writing this message if it weren’t for autism. But to some extent they are beasts of burden.
Musk talks about his brain as if it’s possessed by demons sending him a million thoughts a minute. Not fun.
Musk talks about his brain as if it’s possessed by demons sending him a million thoughts a minute. Not fun.
> But to some extent they are beasts of burden.
What? I'm sorry but I find that to be dehumanizing towards people on the spectrum. They are human beings like us.
What? I'm sorry but I find that to be dehumanizing towards people on the spectrum. They are human beings like us.
> his brain as if it’s possessed by demons sending him a million thoughts
Has he tried logging off?
Has he tried logging off?
Ya, beasts of burden sounds right. Geese laying golden eggs too. Destined for the egg factory.
I’m not sure why you think people on the spectrum cannot feel how others feel, but that is not the case.
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I have 'some autism' as in self-diagnosed a few years back when someone else on the spectrum asked me flat out and said they're certain I'm on the spectrum. It's funny I also have ADHD (diagnosed at 38) and I watch youtube channels by people with autism/adhd on how to cope, and a lot of the 'coping' skills or masking things people do to fit in, I've organically discovered on my own and have used just naturally since I was a kid.
Like, I couldn't stand being in class listening to the teacher, I never ever listened, instead I just read ahead, guessed and completed the homework assignment, and never had homework in high school because of it.
My ADHD brain has kept me poor mixed w/ depression, but I feel my logical autistic side sometimes balances it out, and makes me think before doing something stupid/spontaneous.
Like I sometimes forget things, so I create rituals when I do forget something, so I don't do it again. Example: I left my keys in car back in 2003, had a bunch of latino guys helping me in SLC try and break into my own car.
Since that day, I never turn the car off until I've got one foot out the door, as a reminder the keys are still in ignition because it's running. Lost my wallet once, and now I always put it in the same pocket, and the same place at home when not in my pants.
There's some things not great about autism, especially higher up on the spectrum, but maybe evolution sometimes has hiccups before it gets things right. Sometimes I think autism is more a blessing than a curse, and there definitely are many great minds who probably were on the spectrum.
It could be an evolutionary leap eventually, I hate how people always call it a disorder or negative. Yeah, okay if you're non-verbal or something yeah that's not great, but if you're just very pithy when talking about a topic you're interested in, and have a weird sense of humor (snarky redditors - as I'm convinced reddit is literally the social network for autists), and a little ocd but not clinically so, then it's not all bad.
ADHD on the other hand, I could really do without. I'm on wellbutrin for depression which raises dopamine, and vyvanse for ADHD which also raises dopamine, and my ability to focus and get motivated has skyrocketed since I started it a few months back, but before that my life was miserable. I'm making 7k monthly now freelancing, I made 7k last year because I was anxious, depressed, and had fatigue from long-covid.
I just had panic attacks even thinking about prospecting for new clients. I had one good one but she was sporadic, and she recommended me to my new client who's awesome and gives me 40+ hours per week. Though, I probably should raise my rates... I'm a USA dev, freelancer with 10 years experience in laravel and right now I'm doing django/python stuff and still only charging $40 (same as I did like 4 years ago)... minimum wage has gone up like $10 in a lot of places either by force, or by competition.
It's amazing though what the right medical cocktail gets you.
Like, I couldn't stand being in class listening to the teacher, I never ever listened, instead I just read ahead, guessed and completed the homework assignment, and never had homework in high school because of it.
My ADHD brain has kept me poor mixed w/ depression, but I feel my logical autistic side sometimes balances it out, and makes me think before doing something stupid/spontaneous.
Like I sometimes forget things, so I create rituals when I do forget something, so I don't do it again. Example: I left my keys in car back in 2003, had a bunch of latino guys helping me in SLC try and break into my own car.
Since that day, I never turn the car off until I've got one foot out the door, as a reminder the keys are still in ignition because it's running. Lost my wallet once, and now I always put it in the same pocket, and the same place at home when not in my pants.
There's some things not great about autism, especially higher up on the spectrum, but maybe evolution sometimes has hiccups before it gets things right. Sometimes I think autism is more a blessing than a curse, and there definitely are many great minds who probably were on the spectrum.
It could be an evolutionary leap eventually, I hate how people always call it a disorder or negative. Yeah, okay if you're non-verbal or something yeah that's not great, but if you're just very pithy when talking about a topic you're interested in, and have a weird sense of humor (snarky redditors - as I'm convinced reddit is literally the social network for autists), and a little ocd but not clinically so, then it's not all bad.
ADHD on the other hand, I could really do without. I'm on wellbutrin for depression which raises dopamine, and vyvanse for ADHD which also raises dopamine, and my ability to focus and get motivated has skyrocketed since I started it a few months back, but before that my life was miserable. I'm making 7k monthly now freelancing, I made 7k last year because I was anxious, depressed, and had fatigue from long-covid.
I just had panic attacks even thinking about prospecting for new clients. I had one good one but she was sporadic, and she recommended me to my new client who's awesome and gives me 40+ hours per week. Though, I probably should raise my rates... I'm a USA dev, freelancer with 10 years experience in laravel and right now I'm doing django/python stuff and still only charging $40 (same as I did like 4 years ago)... minimum wage has gone up like $10 in a lot of places either by force, or by competition.
It's amazing though what the right medical cocktail gets you.
Are you a woman, by any chance? Autism diagnoses have historically been very male-biased.
Interesting. Now I'm wondering if I can check my own genome from data from 23&me to see if I have any unusual variants.
If you really are interested in that, I would suggest you skip 23andMe entirely and get your whole genome sequenced. That's where the actually interesting stuff is. That's where you will find the high risk variants.
How does one do that? And how much does it cost?
Getting your whole genome sequenced is around 200-300$. Nebula or Dante labs offer that. Once you receive the data, which is going to be a VCF file, you have to annotate it with something like Ensembl VEP, which adds useful information to analyze it. After that, you can download a list of genes associated with autism from SFARI and extract the variants that you have in those genes. You remove the common variants (say those that have more than 5% frequency) and focus on the coding variants (the ones that affect the exome). From there on, the interesting part begins. Depending on the kind of variant, you can get certain conclusions or certain others. There are tools that predict the pathogenicity of certain variants; other variants you know almost certainly that they render the resulting protein non-functional, so you have to take a closer look at the gene and see if having a single copy of the gene is enough. And so on.
It's not complicated at all and a lot of it can be done with basic Linux tools, like grep, and visualized with CSV viewers like Visidata. That's just a basic explanation. If you end up getting your genome sequenced and want to analyze it, let me know in a comment.
It's not complicated at all and a lot of it can be done with basic Linux tools, like grep, and visualized with CSV viewers like Visidata. That's just a basic explanation. If you end up getting your genome sequenced and want to analyze it, let me know in a comment.
Thank you for the info. I’m intrigued and considering doing it. As long as they don’t keep/sell my data.. or at least anonymise it
I understand your concerns, because I also had them. When I got my genome sequenced, I assumed that my data could one day be hacked and distributed like any other kind of data, so I tried to provide as little information as possible. In my case, I need it, so it's a no-brainer, but yeah, the concerns are legitimate. If you suffer from some condition, you might be able to ask your doctor to sequence you.
itsthemmrvax(2)
Correlation does not equal causation
Its amazing how many supposed experts skip right over that. JFC.
IOW, the gene mutations could be a response, not a cause.
Its amazing how many supposed experts skip right over that. JFC.
IOW, the gene mutations could be a response, not a cause.
Correlation is nearly always the first step in identifying a causality.
Unfortunately anybody who spent money attaining low level Bachelors degree goes around repeating that phrase. It's meant to shut down any discussion and signals pedantry.
It's the equivalent of "X is not a reliable source, therefore I reject all claims by X" people use to shut out anything that threatens their perception of reality.
I hate it. It's rampant on HN and reddit.
It's the equivalent of "X is not a reliable source, therefore I reject all claims by X" people use to shut out anything that threatens their perception of reality.
I hate it. It's rampant on HN and reddit.
The assumption that “is associated with” is the same as “causes” is also rampant. It’s good to be reminded that causation could flow either way, or that a third thing could be the causative factor.
This is the difference between genetics and molecular biology. In most cases, genetics treats gene function as an abstraction while molecular biology seeks the underlying mechanistic process by which genes and their products function (this is an oversimplification).
There is a long history of discovering genes associated with diseases and then determining the molecular etiology/mechanism of the disease. In the case of autism we often see gene associations which seem fairly obvious- for example genes that encode for the proteins that make neural pathways- but sometimes also other genes which woudln't seem related at all or are more "general" and would affect people in many ways- a motor protein that carries things from one part of the cell to another- can be associated but it's challenging to build a true causal model.
From having worked in this field some time, the relationship between a human genotype and their body-level disease phenotype is an extraordinarily complex one, with huge amounts of nonlinear terms. Pretty much the only reasonable way to deal with this right now is to build deep models and feed them enough data to build rich representations with predictive ability. Embeddings and transformers have recently been shown to be remarkably successful in this area.
There is a long history of discovering genes associated with diseases and then determining the molecular etiology/mechanism of the disease. In the case of autism we often see gene associations which seem fairly obvious- for example genes that encode for the proteins that make neural pathways- but sometimes also other genes which woudln't seem related at all or are more "general" and would affect people in many ways- a motor protein that carries things from one part of the cell to another- can be associated but it's challenging to build a true causal model.
From having worked in this field some time, the relationship between a human genotype and their body-level disease phenotype is an extraordinarily complex one, with huge amounts of nonlinear terms. Pretty much the only reasonable way to deal with this right now is to build deep models and feed them enough data to build rich representations with predictive ability. Embeddings and transformers have recently been shown to be remarkably successful in this area.
This is especially important when it comes to identifying genetic correlations with autism, since anything that negatively impacts overall functioning is going to wind up positively correlated with autism diagnoses. Nobody sane is going to argue that having an itchy skin condition means that you're more autistic, but an autist with itchy skin is more likely to have enough behavioral issues in school to meet the threshold for a mental health referral.
To summarize my point, there's all sorts of genetic stuff that will end up completely unrelated with being autistic, but will end up correlated with getting diagnosed as autistic. This is because merely being neuro-atypical is not enough to get a mental health diagnosis, you need to combine it with enough life difficulties and social conflict to drive the bureaucratic machinery involved with producing a diagnosis.