Thread

Autism is genetic – and why this information matters now

100 points · 116 comments · AndrewDucker

profsummergig · 1789598299 · focus · HN ↗
So many misconceptions in this writeup.
Here's one: even if it were genetic, there could be triggering environmental factors that trigger the onset of autism (I'm just giving a hypothetical example, not making a claim here).
1. nomel · 1789605863 · focus · HN ↗
  For example, 45% reduction in symptoms from fecal transplant: <a href="https://news.ycombinator.com/item?id=48158494">https://news.ycombinator.com/item?id=48158494
  > Prior to the study, 83% of participants had "severe" autism. Two years later, only 17% were rated as severe, 39% as mild or moderate, and incredibly, 44% were below the cut-off for mild ASD.
  Incredible! Sure, there could be a genetic component to what flourishes, or ever seeded, in one's microflora, but there's definitely some external complexities involved here.
  1. donkey_brains · 1789615965 · focus · HN ↗
    Of all the misguided, abusive studies. It beggars belief that a board somehow approved this.
    What happened here is simple: the autistic kids got better at masking in order to placate the researchers who were shoving poop up their butts. In the hope of making it stop.
    sokka_h2otribe · 1789618263 · focus · HN ↗
    to be honest I doubt people were masking in response to poop shoving, poop shoving is not the worst and presumably the control group just had non-poop
    what seems more plausible to me would be ~<<poop helped something, something made life easier, autistic life is less obvious and disruptive to non-autistics when life is easier>>
    strken · 1789627081 · focus · HN ↗
    That study measured a drop from 83% to 17% in severe autism, and one behaviour typical of severe autism is slamming one's head into the wall, among other things.
    I think it's overly dismissive to summarise a drop in these behaviours as just "less obvious and disruptive to non-autistics". I can't imagine slamming your head into stuff is pleasant regardless of whether you have autism.
    bcjdjsndon · 1789635349 · focus · HN ↗
    That's also not the definition for severe autism, "banging head on wall"
    strken · 1789656396 · focus · HN ↗
    No, but per my earlier reply, it's one behaviour typical of severe autism, among other forms of self-harm. Pretending that broader society only wants to reduce the severity of autism symptoms for their own convenience is ignoring the very real suffering that's happening.
    dns_snek · 1789805268 · focus · HN ↗
    The study chose 18 participants such that 83% of them were just above the cut-off for severe autism according to the CARS rating scale, 16 of whom were boys, for a non-blinded, non-randomized, non-placebo-controlled trial with no control group, with symptoms assessed by evaluators who weren't blinded to previous assessments of each participant, and explicitly used those assessments to "calibrate" all future results without further elaboration, and with most of the subjects having changed other treatments and diets during the observation period.
    This is poor quality evidence of anything.
    dns_snek · 1789634618 · focus · HN ↗
    There was no control group.
    > We note that due to the open-label nature of this initial trial, all of the assessments are subject to placebo effect, however the long-term improvements we observed here are promising.
    Llamamoe · 1789633207 · focus · HN ↗
    This might have been plausible if this study came out of nowhere but there have been placebo controlled studies inducing/reversing autism-like symptoms in mice with fecal transplants and studies linking individual git microbiome metabolites to symptom severity in both animal models and humans.
    Yeah the research is still preliminary but it's still pretty strong evidence that it's a research direction worth exploring.
    bcjdjsndon · 1789635293 · focus · HN ↗
    Why doesn't it cure any actual symptoms like not being able to communicate though? The symptoms quote/unquote are behaviour
  2. dns_snek · 1789633518 · focus · HN ↗
    The study that found a 47%* reduction (relative to symptoms at the start of the study) wasn't placebo controlled and had a sample size of just 18, so there's not even a control group to compare against.
    > We note that due to the open-label nature of this initial trial, all of the assessments are subject to placebo effect, however the long-term improvements we observed here are promising.
    <a href="https://www.nature.com/articles/s41598-019-42183-0#Sec2" rel="nofollow">https://www.nature.com/articles/s41598-019-42183-0#Sec2
    nomel · 1789643368 · focus · HN ↗
    Then, I suppose you could argue there's a possible, statistically significant, genetic component for efficacy of placebo, in autistic people. ;)
  3. bcjdjsndon · 1789635216 · focus · HN ↗
    > Prior to the study, 83% of participants had "severe" autism. Two years later, only 17% were rated as severe, 39% as mild or moderate, and incredibly, 44% were below the cut-off for mild ASD.
    It just says they behaved better, that's not recovering from severe autism at all... They didn't magically acquire language from a fecal transplant. Misleading

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