A step forward in understanding Fragile X syndrome, a cause of autism

[tgv]

Errm ... about that headline. "The researchers found a difference in how sensory signals are processed in [pyramidal neurons of cortical layer 5]" in a mouse model of Fragile X Syndrome. That's it.

The abstract of the paper ends with "These results challenge the traditional view that FXS and other ASD are characterized by sensory hypersensitivity, proposing instead a hyposensitivity of sensory inputs and hypersensitivity of predictive inputs onto cortical neurons."

And that is under the assumption that any of these hypotheses are true(ish). While an interesting finding, it doesn't prove that it is a significantly contributing factor in (human) autism.

[908B64B197]

Unlike most university press releases, this particular headline makes no claims other than "we have a better understanding of X".

[tarokun-io]

Thanks. This is probably the most helpful comment.

"Scientific" articles have such click-bait titles. I understand this is an evil necessity in capitalism, but these titles bias everyone...

[wpietri]

I'm always a bit uncomfortable with articles that uncritically use the disease model for all of autism.

[jckahn]

IMO the reclassification of Asperger’s Syndrome as a general Autism Spectrum disorder was massively unhelpful to all, and it only served to muddy conversations like this. Different ends of the spectrum affect people in wildly different ways. Different extremes need very different types of support.

As a person with Asperger’s, I really wish it remained a distinct condition in terms of its classification.

[scotty79]

Isn't it a bit uncomfortable that term that described condition of non-verbal kids got so diluted that now there are adult people who self diagnose common human quirks with this term?

[mikebonnell]

Autism as a general topic should not be called a disease. As said so well in this article: https://novaramedia.com/2021/11/25/autism-is-not-a-disease/

"Treating autism as a ‘disease’, rather than a neurotype that exists as a result of natural biological variation, paves the way for a level of discrimination and stigmatisation that would not be acceptable if it were applied to other minority groups. At worst, it raises serious fears of eugenics. But the traditional understanding of autism as a deficit also plays a huge role in day-to-day discrimination against autistic people..."

edit: removed a poorly worded section.

[nailer]

Exactly. Elon is open about ASD (he uses the word Asperger's because he’s older), Anthony Hopkins is open about autism too (he can memorise a 7 page script), I suspect Tarantino may have it, and half of the people who built the internet.

Anyone that tries to ‘rectify’ me can fuck off.

Edit: as a user of HN since it was Startup News, and as someone who is very much aware of the HN guidelines, 'fuck off' was chosen very carefully towards anyone who would erase my existence.

Hopefully HN has a modicum of empathy for other people and can understand others not wanting to be destroyed.

[krageon]

Can you explain why? "Disease" doesn't mean that it is bad in all cases, it doesn't even mean that it needs to be cured. All it means it that it's not an optimal state in the eyes of most other people (i.e. it is normative).

f.e. I don't think anyone has a problem with saying sickle cell is a disease, even though it has a large upside as well.

[raverbashing]

(A step forward in) understanding "Fragile X syndrome" which is a type of autism. But I'm not sure how many of people with an autism diagnosis has FXS

[diydsp]

Yes def worth skimming about fxs.(1) Avg iq of fxs males is 55. This isn't "trains" autism. It's a full-disability. Still very important news!

(1) https://en.m.wikipedia.org/wiki/Fragile_X_syndrome

[mnw21cam]

Fragile X is about 1.4 cases per 10,000 males. Autism is way more common than that, so I wouldn't say the Fragile X accounts for even a single percent of Autism cases. The article saying that it is the most common cause of Autism is definitely weasle-wording, and can only be claimed because most autism is not monogenic in nature. It's almost always a polygenic trait, and therefore doesn't have a single "identified" cause.

[mrangle]

I'm in a medical profession that delivers services to the autistic community. Never in our training did we learn that Fragile X is a cause of autism, let alone the primary cause.

I've never delivered services to a client that had a diagnosis of both fragile x and autism.

Most autism clients that I see are severely disabled and not fragile x. Every once in a while we get an HFA client. Again, no fragile x. The Asperger's individuals that I come across in the clinic will tend to be clinical professionals, not clients. They are never in for services. But they aren't common either.

[nailer]

The article says FXS is the most common cause.

But that seems odd. Wikipedia has two references for;

> Fragile X syndrome (FXS) is a genetic disorder characterized by mild-to-moderate intellectual disability. The average IQ in males with FXS is under 55.

That doesn’t sound like most autistics I know.

[ilaksh]

I'm sure everyone is going to dismiss this type of research now that most people think any intelligent, slightly shy and technically competent person must have autism.

[chasd00]

It does a disservice to those suffering. Mental illness and things like adhd and autism are very trendy for some reason.

[epigwa]

It is interesting to learn about progress in understanding molecular deficiencies behind autism. However it seems to me that the prime root of autism is medicalization of natural life process which is pregnancy. Frequent advices for mothers-to-be to lay calm deprive a developing fetus of environmental stimulation necessary for brain development in critical first 9 months of life. Pregnancy is not ilness to be treated in a way which interferes with child's brain development!

[xena]

Honestly, the problem isn't autism. It's people not understanding that autism fundamentally changes how you view reality and then making people with autism have a harder time because of something they didn't ask for. It's like being able to see color and have everyone that only sees black and white get mad at you for it.

[slibhb]

Autism is the problem.

A secondary problem is narcissistic adults who think their personality quirks make them part of an oppressed minority.

[mattigames]

And here you are doing the exact same thing but with the people that don't have autism, they also didn't ask for their way if viewing reality, and that they communicate and interact with others based on a way that works most of the time so they stick to it.

[sylware]

oooof! Now, is this very biological imbalance the real source of this autism? Could be only the result of a real underlaying set of causes.

Now, how do we increase the neurons and synapses at those places? Intense, and maybe painful, mental training with brain imagery to check the right spots are being trained?

[BazookaMusic]

"A protein called FMRP that is absent in the brains of people with FXS modulates the activity of a type of potassium channel in the brain. According to the research group's work, it is the absence of this protein that alters the way sensory inputs are combined, causing them to be underrepresented by the signals coming out of the cortical pyramidal neurons in the brain."

Maybe adjusting the production of the protein they identified would be a reasonable thing to study before resorting to Clockwork Orange therapy.

[scotty79]

You can't train yourself to produce a missing protein you can't produce.

[pitched]

If the neurons that are weak are the ones for processing external signals and having them override internal signals is the goal, maybe it’s as simple as a cold shower every day.