[HN Gopher] Integrating variants in 42k autism cases identifies ...
___________________________________________________________________
Integrating variants in 42k autism cases identifies mutations in
new genes
Author : bookofjoe
Score : 53 points
Date : 2022-08-19 12:32 UTC (10 hours ago)
(HTM) web link (www.nature.com)
(TXT) w3m dump (www.nature.com)
| swayvil wrote:
| 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.
| alistairSH wrote:
| That's a vast over-simplification and over-generalization of
| ASD. And completely ignores the negatives associated with these
| mutations.
| swayvil wrote:
| I addressed that a whole 1 paragraph down.
|
| Sometimes I think that refutation is inherently more
| attractive than discussion or support. What you think?
| feet wrote:
| 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"
| alistairSH wrote:
| 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.
| matheusmoreira wrote:
| 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.
| swayvil wrote:
| I used the term "the spectrum". It covers everything from
| casual obsessives to serious handwavers
| emrvb wrote:
| 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.
| galgalesh wrote:
| 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.
| pingeroo wrote:
| 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.
| Melting_Harps wrote:
| > . 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.
| swayvil wrote:
| 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.
| pingeroo wrote:
| 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.
| matheusmoreira wrote:
| > 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.
| swayvil wrote:
| Ya, beasts of burden sounds right. Geese laying golden
| eggs too. Destined for the egg factory.
| Ygg2 wrote:
| > his brain as if it's possessed by demons sending him a
| million thoughts
|
| Has he tried logging off?
| rhexs wrote:
| [deleted]
| gremlinsinc wrote:
| 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.
| supertofu wrote:
| Are you a woman, by any chance? Autism diagnoses have
| historically been very male-biased.
| ThrustVectoring wrote:
| So, a big thing about mental health diagnoses in general is that
| they have two components: an identifiable behavioral difference
| from neurotypical baseline, and enough difficulties and social
| conflict in their life that mental health professionals end up
| getting involved. The second part is important to keep in mind -
| people who are like Bill Gross and wind up happily married and
| running a highly successful bond fund simply do not get diagnosed
| at nearly the rate as an eleven year old who cannot go through a
| school day without a screaming meltdown.
|
| 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.
| psychphysic wrote:
| 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.
| dzink wrote:
| 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.
| nineplay wrote:
| 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.
| callalex wrote:
| 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.
| upupandup wrote:
| 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.
| jiggywiggy wrote:
| 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....
| albertopv wrote:
| 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.
| cpuguy83 wrote:
| The existence of severe cases does not mean less severe cases
| don't count.
| spywaregorilla wrote:
| 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.
| RobotToaster wrote:
| 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.
| ThrustVectoring wrote:
| 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.
| devwastaken wrote:
| 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.
| marginalia_nu wrote:
| 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.
| _jal wrote:
| 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.
| marginalia_nu wrote:
| 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.
| brippalcharrid wrote:
| 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.
| ok_dad wrote:
| 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.
| FollowingTheDao wrote:
| 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.
| MrPatan wrote:
| 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.
| FollowingTheDao wrote:
| 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.
| washbrain wrote:
| 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.
| rogerkirkness wrote:
| People with high functioning autism are more likely to have
| children than neurotypicals, so there is some favourable
| selection pressure as well.
| supertofu wrote:
| 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?
| MrPatan wrote:
| The less strong claim is that people with functioning autism
| reproduce more than they did before
| alistairSH wrote:
| Do you have a source for this claim? I'm not doubting you,
| genuinely interested (my now-adult son is on the spectrum).
| MrPatan wrote:
| Why not both? How about modern world makes it easier for
| autists to reproduce?
| jklinger410 wrote:
| 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.
| callalex wrote:
| You seem to be confusing your lack of understanding of ASD
| with the scientific community's understanding of ASD. I'm not
| even sure where to begin correcting you because your
| understanding is fundamentally off.
| spywaregorilla wrote:
| > 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.
| huetius wrote:
| 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.
| spywaregorilla wrote:
| 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.
| jjallen wrote:
| Aren't wealthier families more likely to have autistic kids?
| Wouldn't this contradict your statement of environmental
| pollution and low nutrition diets?
| jklinger410 wrote:
| 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.
| alistairSH wrote:
| 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).
| brippalcharrid wrote:
| 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.
| ljw1001 wrote:
| It could also be that milder forms are an asset in an
| information based economy
| jmyeet wrote:
| 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.
| jiggywiggy wrote:
| Dont underestimate over diagnosing in these overbearing
| times.
| emmelaich wrote:
| 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.
| FollowingTheDao wrote:
| And more likely to mate with someone with a different
| cultural background, which has a greater impact on our
| genetics.
| davidf18 wrote:
| londons_explore wrote:
| 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?
| stu2010 wrote:
| 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.
| autosharp wrote:
| No. All mutations are random. In the past, ASD might have been
| more or less adaptive than it is today.
| FollowingTheDao wrote:
| To be clear, mutations are random, but polymorphisms are not.
| bena wrote:
| 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.
| atwood22 wrote:
| 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.
| jklinger410 wrote:
| 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.
| alistairSH wrote:
| _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.
| jklinger410 wrote:
| 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?
| alistairSH wrote:
| 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.
| hunta2097 wrote:
| 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.
| alistairSH wrote:
| _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."
| jklinger410 wrote:
| 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.
| hunta2097 wrote:
| 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.
| axus wrote:
| "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.
| PragmaticPulp wrote:
| > 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
| thewebcount wrote:
| > 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.
| itsthemmrvax wrote:
| nickmyersdt wrote:
| AFAIK all credible studies into the link between MMR vaccine
| and autism have concluded that there is no link, do you have
| new information?
| itsthemmrvax wrote:
| sovnade wrote:
| sigh. there are dozens of easily viewable meta-analyses of
| millions of children that show no link, and zero that do.
| philliphaydon wrote:
| While I don't believe there is any link. I've always found it
| strange that the US bundles SO many vaccines together in a
| shorter period of time compared to NZ/AU/UK.
| shagie wrote:
| The CDC page on the bundling of vaccines which goes quite a
| bit into the why of it -
| https://www.cdc.gov/vaccines/parents/why-
| vaccinate/combinati...
| wahern wrote:
| AFAIU, combined vaccines are preferred in the U.S. because
| we have problems with compliance, scheduling, and follow-
| up, especially in at-risk communities. Minimizing the
| number of appointments this way is a simple technological
| workaround to deeper sociocultural issues. Other countries
| may have similar problems, but the U.S. has a habit of
| leaning on technological solutions, for multiple reasons
| but in no small part because we're crazy rich and _can_ ;
| whereas some other countries are more predisposed to low-
| tech, behavioral remedies.
| philliphaydon wrote:
| Makes sense. Thanks.
|
| And thanks for the link in the other reply.
| t0bia_s wrote:
| Link please. I want to see studies that proofs that there are
| autism diagnosed unvaccinated people in our population.
| washbrain wrote:
| 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.
| farresito wrote:
| 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.
| upupandup wrote:
| 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"
| kaiusbrantlee wrote:
| 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.
| peteradio wrote:
| Correlation is nearly always the first step in identifying a
| causality.
| upupandup wrote:
| 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.
| amanaplanacanal wrote:
| 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.
| dekhn wrote:
| 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.
| svnt wrote:
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