Friday, 17 November 2017

Autistics have "too many" brain connections? (specific article)

A friend shared the following article with me:

 In autism, too many brain connections may be at root of condition

It's certainly interesting and one I suspect is likely to be studied more in the future. The premise of the research is that among the various genes potentially linked to autism, there are 6 genes that attach a molecular tag called ubiquitin to proteins, and these genes tell the cell how to deal with the proteins (get rid of it, send it elsewhere, increase or decrease its activity). However, the theory is that in autism, there may be a gene "mutation"/variation where the ubiqutin doesn't work properly. Neurons (brain/nerve cells) connect through something called a synapse and the researchers discovered that the neurons that don't have the RNF8 protein have many more synapses (connections) than in those neurons that do have it. So the signal in the receiving cells is double in the mice that do not have the RNF8 protein. It is particularly significant when looking at the part of the brain called the cerebellum, which is believed to be one of the key areas of the brain that is affected by autism.

A synapse:











 
(Images from ClipArt in MS Word)

 The mice without the RNF8 protein, with double the synaptic activity, struggled and failed to complete certain tasks, whereas the mice with RNF8 (and therefore normal levels of synaptic activity) completed the tasks without problems. The researchers have since expanded the research to investigate the other ubiquitin genes associated with autism and have discovered that with every gene, inhibition (prevention) of these genes increases the synaptic activity.

So basically, absence of a specific protein leads to an increase in synaptic activity, which then causes problems. You'd think that an increase in synaptic activity would be a good thing, but it turns out not to be the case - like many things, the balance has to be just right; too much or too little of something is problematic.
 
Bonni (the senior researcher) states that they need to do more research before any definitive answer can be given as to whether or not this theory is true, but if it is, people could start looking at methods of controlling the levels of synapse activity. I expect some sections of society will tout controlling synapse activity levels as a "cure" for autism, but I've got a reasonable understanding of science, and biology in particular, and I think that if it is touted as a "cure", that would be far too simplistic and incorrect. I do not think that controlling levels of synapse activity would remove autism because it's far more complex than a few malfunctioning protein genes. I think there is potential for it to reduce the difficulties some autistics experience - the study above demonstrated that too much synaptic activity can cause problems with co-ordination and movement, and the ability to learn, so ensuring that synaptic activity is occurring at optimal levels rather than excess levels could benefit autistics and reduce problems without changing their inherent autistic nature.

I wonder what the effects of too little synaptic activity could have, whether there would be similar consequences in the form of difficulty with certain activities. Perhaps future research will be done into that aspect.


My thinking is that this could explain the hypersensitivities a lot of us autistics experience - too much information, as it were. The brain can't cope with the sheer quantity of information being sent to it and it gets overloaded with information that it can't process/can't process fast enough, triggering the external reactions of hypersensitivity, meltdowns, shutdowns, etc. I don't know for certain; I'm just theorising at this point, but that's where my thinking is going on this research.

Positives

This research has some promise in identifying why autistics have certain difficulties, and could serve as evidence that there are physiological differences between autistics and NTs. It could then be used to refute the oft-repeated and untrue belief of "we're all on the spectrum", and to aid in earlier diagnosis (and thus earlier appropriate supports being put in place).

I see no reason for the controlling of synapse activity levels to change a person from being autistic to NT because autism is rather more complex than that. However, it could lead to developing something to alleviate the distressing (NB. for the autistic, rather than for the NT observer) hypersensitivities that can be extremely disabling, without changing a person's neurological makeup or eliminate neurodiversity.

Criticisms

Putting aside any moral issues some people have with using animals for this purpose, the research was carried out on mice, so at the moment it is unclear how well that would translate to humans - I've seen previous research on other things produce certain results in rodents but then, when applied to humans, turns out to not be the breakthrough it had initially appeared to be with the rodents. I've read a few scholarly articles over the last few years discussing the pros and cons of using animals to research human conditions, and one of big cons is that the results in mice don't always translate to the same results in humans.

I'm not a fan of the persistence of person-first language throughout the article; in this context it reinforces the medical model of disability and the notion that autism is a disease (it isn't). It also shows that the researchers and article writers don't really engage with the autistic community directly because if they did, they would know that we prefer identity-first language.

"Patients" is not an appropriate label to use; we are not being treated for something, and it suggests some level of inferiority of autistics over NTs. It also suggests that there is a difference between autistic people in the wider population and those autistics under medical supervision/care. It also reinforces the false notion of autism as a disease. "Autistics", rather than "patients with autism", would be a better term to use. Even "people with autism" would be marginally preferable over "patients"!

The description of autism is inadequate: the article's author states that "It is characterized by social and communication challenges" with no mention of sensory issues or any of the other difficulties or differences. Additionally, she talks about autism affecting "about one out of every 68 children" - first of all, this implies that only children are affected and that by the time they reach adulthood they have somehow miraculously grown out of their autism (hint: they haven't), as well as failing to acknowledge the figures for adults and failing to note discrepancies between diagnostic and incidence rates because of the autistics who fly under the radar.

I and my fellow autistics are not "defective". "Gene difference" might be more appropriate than outright calling us defective.

The researchers appear to have conflated intellectual disability with autism; while they are sometimes co-morbid, autism does not equal and does not automatically mean learning disability; the two are separate. I know some autistics who also have a learning disability but I also know many autistics, myself included, who do not. And this article suggests that the two are inherently linked, which benefits no-one.

Overall, I think there may be potential in this development and if it is demonstrated by further study to be a valid theory, there may be some room for finding methods to alleviate distressing (for the autistic person) and disabling problems without undermining a person's inherent, intrinsic autistic nature. However, research on mice does not always translate well to humans, and the scientists would do well to reconsider their use of language.