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Researchers discover molecular difference in autistic brains
- deleted 10mo ago[deleted]
- NewUser76312 10mo agoInteresting indeed. Does such a finding suggest any worthwhile easy-to-try 'treatments' that may help alleviate symptoms? I don't know much about the biochemistry here, I assume this is not something like GABA that can be directly supplemented. But maybe there are precursor nutritional and supplemental substances that can help these people upregulate how much of the glutamate molecule in question the body can produce.
- wizzwizz4 10mo agoThere isn't enough information to start doing that. Consider: UV exposure results in sunburn, cellular damage, and increased skin pigmentation. We have medication that reduces skin pigmentation. Should we give it to people who experience chronic sunburn?
- esseph 10mo agoThe third paragraph: > Now, a new study in The American Journal of Psychiatry has found that brains of autistic people have fewer of a specific kind of receptor for glutamate, the most common excitatory neurotransmitter in the brain. The reduced availability of these receptors may be associated with various characteristics linked to autism. Reduce receptors. This might suggest a _developmental_ or genetic link. Think of this more like "height" or a particular "facial feature" of a person.
- guerrilla 10mo agoGod, why are so many people commenting out of their depth today. > Reduce receptors. This might suggest a _developmental_ or genetic link. Think of this more like "height" or a particular "facial feature" of a person. No. This isn't how it works at all. Receptor counts are extremely plastic, able to change within a weeks and in some cases hours. This is how you get drug tolerance.
- esseph 10mo agoSure, but they're also 15% lower in people with autism, and shown with a 60-90% heritability. Supplimentation would not rewrite SHANK3. You can go to the dentist and get your teeth aligned, but there's a very good chance your children have similar issues.
- GoatInGrey 10mo agoUnless you can get the blastocyst and fetus to take supplements, any treatment would be attempting to undo the effects that have already taken place. For now, your best options are ESDM, occupational therapy, modified CBT, ABA, or neurofeedback, depending on your circumstances and presentation. Except for neurofeedback, these are behavioral approaches, so the architectural and neural activity variations aren't directly addressed.
- zmmmmm 10mo agoReceptors quite readily remodel in response to external factors. It is one of the things antidepressants do. To me it's kind of the biggest red flag here, if it's really about receptors then autism should be far more plastic than it is currently defined to be (which is kind of silly since at the moment any sign of plasticity puts you outside one of the hard criteria for an autism diagnosis - so almost definitionally, it can't be the answer).
- guerrilla 10mo agoA lot of people in the corresponding Reddit threads claim that NAC (N-Acetyl Cysteine) might help.
- NewUser76312 10mo agoMeta comment - what a weird comment to downvote. I am expressing curiosity in good faith after reading the article, with a fairly logical follow up. What is the point of commenting in this community if it's primarily cynicism and negativity?
- ThrowawayR2 10mo agoCommenting about voting isn't allowed by the HN guidelines. A link to the guidelines is available at the bottom of the page.
- robwwilliams 10mo agoThe paper is concerned mainly with one of several glutamate receptor subtypes.
- Hnrobert42 10mo ago[flagged]
- gchamonlive 10mo agoIt would also be interesting if there's no link to be found.
- Hnrobert42 10mo agoOf course. That's what I expect.
- lez 10mo ago[flagged]
- ear7h 10mo agoN=32 and > We want to start creating a developmental story and start understanding whether the things that we’re seeing are the root of autism or a neurological consequence of having had autism your whole life
- jmward01 10mo agoYeah, how many studies are done a year? Random chance is the #1 explanation with that small of a sample size. It doesn't take a degree in stats say that the next thing that needs to be done is to replicate the study a few times before making any claims or searching for any publicity. This subject is so emotional for the families involved that publicizing without more confirmation is a bit irresponsible especially if it is easy to do follow-up studies.
- robwwilliams 10mo agoThe reduction of mGluR5 was reported 10 years ago in postmortem tissue. doi: 10.1016/j.bbi.2015.05.009
- slashdave 10mo agoIt's a university press release. Hyperbole in practice. Wish I could read the paper.
- jfengel 10mo agoFollow-up studies cost money, and you don't get any of that if you don't publish.
- jmward01 10mo agoAgreed. Publish, but don't publicize. My remarks were aimed at the article, not the paper. This sounds like a promising, very initial, study that needs a lot more data before making claims about having found anything. Qualified headlines like 'Early study hints at..' Or 'Initial research potentially shows a promising....' would be better but even then a study with this little data should be very cautiously approached by any type of science reporting. More than mentioning it in passing as promising is probably not warranted until the n value is a lot higher and involves other teams and other methods.
- gerdesj 10mo ago[flagged]
- ijustwork 10mo ago[flagged]
- ijustwork 10mo ago[dead]
- diydsp 10mo agoThe vaccine autism hoax is traced back to one specific discredired researcher: https://time.com/5175704/andrew-wakefield-vaccine-autism/ https://time.com/5175704/andrew-wakefield-vaccine-autism/
- ijustwork 10mo ago[dead]
- slater 10mo agoplease don't use "many parents" as a medical reference
- muglug 10mo agoPlease don’t use a bunch of traumatised parents as a medical reference either. The science is extremely clear that Wakefield was a bad scientist — see https://en.wikipedia.org/wiki/Fraudulent_Lancet_MMR_vaccine-autism_study https://en.wikipedia.org/wiki/Fraudulent_Lancet_MMR_vaccine-...
- tomerico 10mo agoDidn’t whole internet get angry for Trump’s administration publishing a warning that Tylenol during pregnancy may cause autosim?
- ijustwork 10mo ago[dead]
- joshcsimmons 10mo agoVery interesting - wonder when this will be cost effective for testing!
- Uptrenda 10mo ago[flagged]
- tiberriver256 10mo ago16 "autistic brains" were scanned and they are thinking this applies generally to all people with autism? Shows how shockingly unaware even researchers are on how broad and nonspecific the diagnosis of autism is... Were these 16 people hypo or hyper sensitive? Which of their five senses were involved? All? Some? Were some senses hyper and others hypo? Need to start with categorization and specificity before we can make meaningful progress in research
- SubiculumCode 10mo agoI have not read the paper as I am traveling, but just in case your opinion is based on the news article, let's not confuse that reporting with the actual research.claims or the actual views held by the scientists involved. This was likely a paper demonstrating the technique in preparation of a more comprehensive study.
- SubiculumCode 10mo agoI would say that as an autism researcher whose focus is in finding autism subgroups that I doubt that any specific receptor differences will not apply to the whole spectrum, probably just to one or several subsets
- tiberriver256 10mo agoSo glad to hear research is being done in that area. I'm a dad of two autistic boys who I think would be very different categories. I have friends whose child isn't really autistic, they have a much more rare and specific diagnosis but it's so rare it's hard to get supports so they got him diagnosed as autistic because that criteria is so broad almost anyone can qualify. Thank you for your work!
- tiberriver256 10mo agoThe full paper isn't open so I can only read the abstract, method and results. The part I take issue with: "lower brain-wide mGlu5 availability may represent a molecular mechanism underlying altered excitatory neurotransmission that has the potential to stratify the heterogeneous autism phenotype." Seems like the very premise is flawed, though. Searching for a single global identifier for autism would be like if we spent research time trying to find a single global identifier for cancer. Noble effort... Way harder than spending effort on subcategorization into "lung" and "heart" cancers and working on research for detection of those subtypes. The only good categorization we have in autism now is severity. The anecdote I always like to share is Temple Grandin. She was hyper-sensitive to auditory and tactile senses. The cause for this hypersensitivity was cerebellar abnormalities in her brain. Right now, someone who is hypo-sensitive to sound and touch because of different cerebellar development will also be put in the same bucket diagnostically speaking. There's not gonna be any universal way to detect that though... To quote her directly: "It would be my number one research priority, but one of the problems we’ve got on studying this, is that one person may have visual sensitivity, another one touch sensitivities, another one, auditory sensitivities. And when you study these, you got to separate them out. You can’t just mix them all together." https://www.sensoryfriendly.net/podcast/understanding-my-autistic-mind-with-dr-temple-grandin/#:~:text=It%20would%20be,them%20all%20together. https://www.sensoryfriendly.net/podcast/understanding-my-aut...
- roywiggins 10mo ago"many neurodivergent people aren’t hindered by autism" This is more or less not true. If it doesn't hinder a person in any aspect of their life, they don't fit the DSM-V criteria for a diagnosis. (Many neurodivergent people aren't hindered by autism because they have some other neurodivergence, but that's a different issue with this sentence)
- tiberriver256 10mo agoMaybe they meant neurodivergent as a broader category? Like "some people are neurodivergent but don't have autism" That would be a bit weird though... EDIT: Neurodivergent is very much a broader category. What I meant would be weird is to state the obvious... Very much sounded like they were trying to say some people with autism may not want to get "cured" but using the wrong words
- 3836293648 10mo agoNeurodivergent doesn't mean autistic. There are tonnes on non-autistic neurodivergent people. All the dyslexics, ADHDers and so on
- RobotToaster 10mo agoAlmost all of those conditions include some kind of hinderance in their definition though. The only possible exception I can think of is synaesthesia.
- wizzwizz4 10mo agoThe DSM-V criteria are not a good description of the natural category, and most people don't actually use them. They are, at best, a vague gesture in the direction of the natural category. The ICD-11 criteria (6A02) are better, but are still contradicted by, for instance, studies evidencing the double-empathy problem. Trained psychologists know which diagnostic criteria to take literally, and which to interpret according to the understanding of the authors.
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- try2stopme 10mo ago[flagged]
- slater 10mo agostop already with the sockpuppet accounts
- truseek 10mo ago[flagged]
- wizzwizz4 10mo agoRe-posting a flagged and dead comment under a new account is not acceptable behaviour. https://news.ycombinator.com/item?id=46416138 https://news.ycombinator.com/item?id=46416138
- tryscience 10mo ago[flagged]
- mapontosevenths 10mo agohttps://jamanetwork.com/journals/jama/fullarticle/2817406 https://jamanetwork.com/journals/jama/fullarticle/2817406
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- robwwilliams 10mo agoClassic academic public relations piece. Not bad but more fluff than insight. Authors often have to grin and bear this PR machine, praying peers will forgive them their trespasses. But here there’s a basic design flaw. This is a study of 16 ASD cases and 16 neurotypical controls. Small sample sizes like this require careful matching. The problem: the autistic subjects are 100% White but controls are 37.5% White. That imbalance can’t be waved away with statistics or Jedi mind tricks. Recruiting matched neurotypicals would have been straightforward. One other issue is high heterogeneity within the two groups. In their Figure 1 (sorry behind a paywall), 4 - 6 of the autistic individuals have low mGlu5 levels across all regions. Two or three neurotypicals have high levels. Are these distributions actually normal, or are subgroups driving effects? It would help to know whether the participants’ GRM5 genotypes were informative wrt these subgroups. They weren’t checked.
- tgv 10mo agoWhenever you measure two different groups, you find a difference. Can it be solely ascribed to the one variable? Doubtful. You would have to match the groups for all possible contributing factors, and here not even the basic demographics have been matched? Another statistical effect for the irreproducibility bin.
- zmmmmm 10mo agoIt's an interesting finding but important to note they are making no claim about causality. In fact, an explicit future question is whether changes in these receptors is present at onset or if it's a result of living with Autism. Neurons specifically increase / decrease receptor density in response to environmental factors, eg: use of SSRI's. Any excess of neurotransmitter would likely lead to reduction in receptor density as part of the response. So the story can be as much about an excess of neurotransmitter as it is about depletion of the receptor. Perhaps the main story here is they can use EEGs as a proxy for measuring this effect so they don't need to put people through PET scans to do wider studies.
- rapjr9 10mo ago“We have found this really important, never-before-understood difference in autism that is meaningful, has implications for intervention, and can help us understand autism in a more concrete way than we ever have before,” So we might be able to make all the non-autistic people autistic? What would the world be like if everyone was mildly autistic?
- robwwilliams 10mo agoThat quote is over the top. Given the imbalance between groups it is also embarrassing to read.
- LoganDark 10mo agoWhich autism? There are four: https://www.medrxiv.org/content/10.1101/2024.08.15.24312078v1 https://www.medrxiv.org/content/10.1101/2024.08.15.24312078v... My impression is this article and research that generalizes across the entire spectrum is not very useful.
- ggm 10mo agoHomeostasis across the blood brain barrier makes me suspect trivial approaches to boosting glutamate won't work. But this even begs the question if boosting available glutamate would be the right thing. There are perverse consequences in brain chemistry and signalling: flooding a brain deficient in glutamate processing receptors with glutamate may not help, it may overload pathways and cause hindrance, not compensation. Signs like this may be consequential, or related but not causal, or may simply turn out to be wrong. IF a small sample effect turns out to be indicative of a larger property, and IF it's shown to be causal and IF remeditation involves boosting blood borne glutamate or precursors is 3 stacked IF. IF its detectable in a young brain it could be diagnostic. IF its detectable in a young brain and amenable to gene therapy and IF it's causative then treatment would be useful. IF excess glutamate is not a problem and dietary supplemented sources cross the blood brain barrier and don't trip over homeostasis then it's possibly worth exploring. (Not a scientist, not a biologist)
- squirrel 10mo agoIt seems you are assuming that because the majority of people have a certain quantity of glutamate receptors, that they are the healthy ones and that we should be trying to bring autistic people up to that level. Is that right? Why not consider the opposite, that the most beneficial quantity of glutamate receptors could be somewhere below the typical amount? If that were true, then we could try to help others reduce their glutamate receptor level to become healthier and more successful (and a little more autistic). If we found, say, an association between a lower level of neurological characteristic X and concert-level piano skill, then those who aspire to play that instrument at an elite level might try to decrease X. The fact that most of us are rubbish piano players would not be evidence that lower levels of X are harmful, but very much the opposite.
- ggm 10mo agoYou're absolutely right that assumption was implicit. The answer was written totally in that framework. I'm not here to say what's right or wrong in determining something about people who lie outside of normal in these things, or what normal means. So what I wrote should be read with a "if it is held to be a condition which deserved remediation or avoidance of it's manifestation" attached. Most medical conditions are couched in this sense, that a deficit or departure from the normal is a problem. In matters of brain chemistry it pays to be more nuanced.
- ziofill 10mo ago[flagged]
- LoganDark 10mo agoI hope emerging research that divides the autism spectrum into four phenotypes[0] eventually gets recognized and incorporated into research like this. I still believe comparing the entire spectrum at once is the wrong approach, especially since the variants of autism express so differently. As an example: I'm autistic and I learn inside-out, building larger new concepts out of smaller existing ones; those with Asperger's on the other paw, learn outside-in instead, breaking down larger existing concepts into smaller new ones; both are part of the "autism spectrum", but differ very fundamentally. Given that the origin of "autism" is simply "thinking that differs from usual", there's no evidence that there is a single underlying cause to find, nor that generalizations across the entire spectrum will reveal much of anything other than coincidence. I believe we need to individualize new research to the variants that we now know exist, because otherwise we will continue to all-but erase anything that isn't common to the entire spectrum. [0]: https://www.medrxiv.org/content/10.1101/2024.08.15.24312078v1 https://www.medrxiv.org/content/10.1101/2024.08.15.24312078v...
- truculent 10mo ago> As an example: I'm autistic and I learn inside-out, building larger new concepts out of smaller existing ones; those with Asperger's on the other paw, learn outside-in instead, breaking down larger existing concepts into smaller new ones; both are part of the "autism spectrum", but differ very fundamentally. This is a really interesting observation - can you expand on this a bit more, please? How did you first notice this distinction? When, for example, learning a new concept in math or physics, what would outside-in look like vs inside out? Would you characterise neurotypical learning in one way or the other?
- LoganDark 10mo ago> This is a really interesting observation - can you expand on this a bit more, please? How did you first notice this distinction? A year or two ago I interacted with someone with Asperger's, and since that very rarely happens I hit a sort of uncanny valley with the way they wrote to me, because their writing gave me a lot of neurotypical vibes, but at the same time seemed a lot more logical and structured than actual neurotypical writing. They seemed to be building their writing and ideas out of logical tokens and constructs in an evidently autistic way, but so much of their writing looked neurotypical. It was sort of like Scratch blocks, where they learned general templates for sentences and paragraphs from neurotypicals, and then substituted entire phrases at a time within them to achieve the desired communication. So while their templates and phrases were learned mostly from neurotypicals, the structure of their communication and usage of it still had a sort of logical system to it. They remembered concepts by the phrases that had been used to explain it to them in the past, and reused those phrases verbatim, slotting them into the templates wholesale. They didn't fully parse everything like I do, they only broke things down as needed to create new logical tokens for new concepts. It's very interesting and fascinating. I mostly only know the one experience I've had, since I didn't get to speak to them again, but I've started to see it absolutely everywhere since. Plenty of engineering blogs, for example, share that sort of tokenized writing style, like for instance this one I recently noticed: https://www.righto.com/2024/12/this-die-photo-of-pentium-shows.html https://www.righto.com/2024/12/this-die-photo-of-pentium-sho... > When, for example, learning a new concept in math or physics, what would outside-in look like vs inside out? I can only guess, because I haven't interviewed someone with Asperger's about this, but I know what it looks like for me and I can guess what it could look like for them (at least for the purposes of the outside-in analogy). For me, when I learn a new concept in math or physics, I want to build an intuition about that concept so I can come up with strategies about it and involving it. This actually mostly does not consist of algorithms related to the concept, but rather more of a fundamental intuition about the nature of the concept itself; what shape it is, what holes it fills, what types and classes of things it can do or model, etc. With this I can come up with my own algorithms on the fly, and also know when the concept might be relevant. An outside-in learner, however, would be different. I have very little experience with the learning process or even with the execution process, but it's likely that they would not bother to break the concept all the way down and try to fully fundamentally understand it. Rather they might look to learn examples of it, algorithms and procedures relating to it, and ways to prove that their approach is correct. It would be less of "understand all the intricacies of this thing and every property it could possibly have and integrate that with everything else" and more of "fill a mental knowledge base with examples, applications, procedures relating to this thing". > Would you characterise neurotypical learning in one way or the other? I would not. I don't mean to imply that neurotypical logic is inherently more simplistic or inferior to autistic logic, but to me it seems far more like rote learning. They don't necessarily seem to break things down to understand the smaller details, but they don't really commit full logical tokens to memory either. They seem somewhere in the squishy middle, where they can be good at doing something that they don't understand at all, just because they practiced a lot, and they can be terrible at doing something that they understand far better, just because they're not practiced. I've found that given I understand something well enough, I can perform better on the first try than some others who practice. That's not really a reliable indicator of much, but for me a lot comes from similar sources of truth, whereas it seems for a neurotypical they don't always necessarily organize or canonicalize their learnings, so their knowledge can be completely disjoint in areas that could totally be combined. This is all just my personal experience/opinion though, fwiw.
- flanked-evergl 10mo agoI have exactly 0 faith in this result, exactly what one would expect from Yale, however. The elite universities have become academic skin suits.
- esbranson 10mo agoMy understanding is that an issue is local hyperconnectivity / long-range underintegration, linked by the E/I imbalance.[1][2] [1] "The findings support the idea that an imbalance of excitatory and inhibitory signals in the brain could be contributing to traits associated with autism, the researchers say." https://medicine.yale.edu/news-article/molecular-difference-in-autistic-brains/ https://medicine.yale.edu/news-article/molecular-difference-... [2] "Converging evidence from diverse studies suggests that atypical brain connectivity in autism affects in distinct ways short- and long-range cortical pathways, disrupting neural communication and the balance of excitation and inhibition." https://doi.org/10.3389/fnhum.2013.00609 https://doi.org/10.3389/fnhum.2013.00609
- thayne 10mo ago16 is an incredibly small sample size. Autism has an incredible amount of variability. It seems naive to extrapolate from this that all cases of autism have the same chemical cause.
- MagicMoonlight 10mo ago>It’s only one apple
- observationist 10mo agoThe tiny number of participants, plus the use of EEG to make giant claims about function, and the claims made all make me super skeptical of the results. This shouldn't be published results - at best this should generate a hypothesis. It's somewhat comparable to using a handheld magnifying glass on petri dishes and making broad claims about virus morphology. EEG is great, but I'm not sure I buy the methodology in this case. You need a huge N and much better experimental design and absolutely zero hype unless or until you show results with scientific rigor. This sort of clickbait almost makes me view this type of research as a flavor of pseudo-science. The framing is misleading at best, but the full throated embrace of the clickbait and hype machine is awful. It's funding bait, narrative manipulation, etc, and it'll either be part of something replicated and justified with much better experiments, or it'll just fade away into oblivion, with no repercussions for any involved should the outcome not actually benefit anyone or anything. There's not even a negative incentive, mGlu5 and "imbalance" claims have been made for decades, and they keep circling the questions but don't ever seem to actually "do" real science.