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.

What do we want healthcare providers to know about autism, autistics and disability?

                                                   

This entry has been prompted by a post over on Autism Women's Network, where they have requested feedback and input in order to create a resource for healthcare providers on "[W]hat YOU wish your healthcare provider* knew about autism and treating autistics and disabled folks. 

 *Healthcare provider means anyone that's part of getting healthcare so doctors, nurses, reception/front desk, pharmacists, physical therapists, chiropractors, etc".

It's something I have previously thought about doing a blog post on, so now seems like an excellent time to do so!

*****

Here's what I hope is a fairly comprehensive list:

• Give me everything in writing (a lot of us have trouble with information given to us solely through speech - processing and retaining) so I can re-read it if I can't remember something, if I need more time to process it to properly understand it, and so that I have something I can refer to at a later date. It's also useful to have it for the future, because communication is more difficult when we're ill, in pain, overloaded, etc, so articulating things is much more challenging; having something written down enables us to just hand it over for the other person to read. And I can give it to a family member/friend/whoever's with me.
• Talk to me like an adult, not a baby - I am perfectly competent, and competence should be presumed (if a person is unable to comprehend or deal with something, they're likely to have a carer or support worker). Presume competence in nonspeaking autistics and disabled people, too. Also, unless the carer/support worker specifically states that you talk to them rather than the patient, talk to the patient! (This is part of the presuming-competence concept.)
• Allow me enough time to process what has been said to me and to formulate a response. If I don't respond immediately, stay quiet and give me that time to think/process/formulate. If you interrupt me it will throw me off and I lose my thoughts and comprehension, so we'll have to start all over again, which I'm sure neither of us wants. If I need something repeated, I will say so.
• Be patient if we are struggling to speak, don't talk over us or finish our sentences for us, and give as much time as we need to speak. Many autistics have difficulties with speech, including quite a few of my friends. For some people it's a muscle/brain co-ordination problem, for others it's anxiety- and stress-related. I'm generally OK on this front but when I'm tired, ill, stressed, in more pain than usual, have brain fog and/or am struggling with sensory overload, I do struggle with speech. Yes, it can be tempting to try to hurry us along, particularly if things are busy, but please afford us some respect. What we have to say is just as important as everyone else. If you attempt to hurry us, we feel under pressure, which causes stress, which exacerbates any speech issues, which turns into a downward spiral that distresses us - and you! - and could ultimately lead to a meltdown. Please don't guess what we're saying and speak over us or try to finish our sentences for us - it makes us feel undermined and not listened to. I've known some autistics to get so frustrated by this (not necessarily in a clinical setting; this happens in all walks of life) that they've just walked out. In a clinical setting it's really important that we are allowed to communicate everything, because that will help you to do your job to the best of your ability and help us as much as possible.
• Alternative forms of communication are just as valid as speech. Not all autistics use speech, so treat my nonspeaking counterparts with just as much respect as you would a speaking autistic or an NT person. AAC, FC, etc are perfectly acceptable.
• Provide us with a quiet, more-dimly-lit space. A lot of healthcare spaces (hospitals, pharmacies, clinics, etc) are unbearably bright because of white walls and fluorescent lights, and they can overwhelm us and be physically painful. The flickering of fluorescent lights is really distracting and uncomfortable, and the buzzing noise they make is irritating to the point where it can contribute to a meltdown, especially if everything else is a bit too much for us. Such places are usually busy, bustling with many people, which again can overwhelm us, and I find it even more so now I'm a wheelchair user, because everyone else is that much higher than me and I feel surrounded and trapped (and also it's more likely that people will inadvertently bump into me because their eyeline is much higher than my head). And if somewhere is busy, chances are there will be many different noises, which can be painful and overloading for us. I find that multiple noises tend to merge together in my ears and head to become one big, incomprehensible racket that's completely intolerable and can trigger a full meltdown. Please be mindful of backround noises, particularly music - a lot of it can be quite tinny and irritating for hypersensitive ears.
• Ensure that toilets, especially disabled/accessible ones, are clearly marked and signposted, and kept in use and available whenever possible. Many disabled people have bladder and/or bowel issues, whether physiological or anxiety-related, so this is really important to us! And while I'm on that subject, please don't use the disabled toilet as a storage cupboard!!! It's less likely to happen in healthcare settings than elsewhere (pubs can be particularly bad for this) but it can and does occur. This is not acceptable, because unnecessary items take up space that can prohibit a wheelchair and/or a carer fitting into the toilet, thus rendering it inaccessible, which rather defeats the purpose of it. Additionally, please provide sanitary bins! The number of places that seem to forget that disabled women of childbearing age menstruate just like their able-bodied counterparts is staggering. When I did my MA, there was one toilet I used every week that never had a sanitary bin provided in it, despite my reporting the absence and requesting the provision of one every single week. On 3 separate occasions I had to leave a used tampon on the sink because there was nowhere else to put it; was I supposed to roll down the corridor with it on my lap to dispose of it in the inaccessible female toilets?! I really disliked having to do that but I had no other option.
• Having a lower section for counters. So many clinical places have counters and desks that are level with my forehead and no lower option, which makes it quite difficult to effectively interact with people on the other side of it when you're a wheelchair user. It also makes it hard to exchange, sign, etc paperwork, especially when someone's ill because a lot of issues can affect people's ability to raise their arms. Mine certainly do.
• Learn some basic signs. It makes a world of difference for Deaf people and quite a few autistics use sign language or Makaton as well. For me it would be BSL (British Sign Language) but obviously it depends where in the world you are. Having a chart with key signs by the desk is also a handy prompt, particularly if you don't use it very often. I've seen several shops with them here in Exeter and it would be brilliant if this became a standard thing.
• Sometimes we struggle to identify our exact issue and the location of our issue. Many autistics have trouble pinpointing where there's something wrong or what it is. Please be patient with us and listen to what we are saying, but also I would encourage you to observe our bodies, how we move them, etc, because that can give you clues and information as to where the problem is. It can be helpful to ask about specific locations, such as, "Is the pain in your head? Is it in your left arm?" etc, or specific problems, eg, "Are things blurry? Do you feel sick?"
• Be specific and precise, and as a general rule stick to literal, and avoid metaphorical, language. Clarity, specifics and precision are good for autistics, as well as other people with a variety of disabilities. Vagueness is difficult for us to understand and makes it hard to follow what your point is. It also makes us feel intellectually inferior because NT and autistic conventions are very different, so we may not grasp the meaning or conversation thread of intangible things.
• Stimming is perfectly normal for us and intervention is only warranted if we are causing harm to ourselves/we are in danger. It's part of the autistic way, and however weird it may look to you and other people, there is nothing wrong with it, we may need to do it to regulate our body/our brain-body connection, to process sensations, to calm ourselves, to express emotions, to name some.
• Sensory and physical health issues can be problematic when it comes to clinical involvement. Many of us are either hyper- or hypo-sensitive to touch and physiological input, so please check with us (when possible) before making physical contact with us. Many disabled people have difficulties with pain, muscle tightness or laxness, hypermobility or other physical dysfunctions. It's always best to check before touching, to prevent surprises, unnecessary pain, damage or violent reactions. I'm very hypersensitive to touch and because I have fibromyalgia, I have tender spots on my body where even a very light touch can cause me agony and physical manipulation of limbs is risky.

Routines in everyday life

One of the most obvious signs of autism is the need for specific routines and structures, often for pretty much everything, however small, and when those routines get disrupted for whatever reason, everything after that goes horribly wrong. I have a specific structure and routine for everything I do in day-to-day life, and if that varies, things don't turn out so well. Some of these routines aren't an issue for NTs and if there's a slight difference from the usual way they do something, there are no problems. To NTs,  these are little things.

That's not the case for autistics.

In the evening, my husband and I have a cup of tea and watch an episode of something before bed. He has normal tea and I have peppermint tea. I've been drinking peppermint tea as a bedtime drink for almost 13 years now, so now my body takes it as a cue that it's time to mentally and physically start shutting down and preparing for sleep. The structure goes thus:

1. Put water in kettle and turn kettle on
2. Put out the two mugs side-by-side, his on the left, mine on the right
3. Put normal teabag in his mug and peppermint teabag in mine (always the same mugs)
4. Get two teaspoons out and place by the side of the mugs
5. While kettle is boiling, check front door (it has to be manually locked; it's not an automatic lock) and put the chain across if it hasn't already been done (while we're very much in the habit of locking the door behind us once we're in, if we're distracted, such as desperately needing the toilet, it doesn't always happen)
6. If kettle still hasn't boiled, tidy sink area
7. When kettle has boiled, pour water into the mugs, Gideon's first, then mine
8. When tea has brewed, remove teabags, put milk and sugar in Gideon's, and take through to the living room

It's quite a lot of steps when you break it down like that! I have a tendency to do that, probably from my days as an occupational therapy student (it's essential that OTs are able to do this, in order to identify the specific steps of the process with which a patient or service user has difficulty, and what that difficulty is), and also I need to for this particular blog post in order to demonstrate the autistic experience.

But sometimes that specific routine goes differently, and here are the outcomes from previous occasions when I've deviated from that precise structure:

• Putting the mugs out before putting water in the kettle meant I forgot to turn the kettle on so wondered why, after a good ten minutes, I hadn't heard the kettle boil
• Putting Gideon's mug on the right and mine on the left led to the normal teabag going in my mug and the peppermint one in his, which then led to me putting milk and sugar in the peppermint tea (not a pleasant taste!)
• Using completely different mugs (the usual ones had been used by guests and had yet to be washed up) threw me so badly I didn't know whose mug was whose, although I was somewhat rescued from that because the Sainsbury's normal teabags are round and the Twining's peppermint teabags are rectangular, so I had the visual cue to work from, enabling me to rescue the situation
• On one occasion I didn't check the front door while the kettle was heating up so we discovered the next morning that our door had been unlocked all night with no chain across - so anyone could have wandered in!
• I've gone and checked the door before putting the teabags in the mugs, which led to there being no teabags when I poured water into the mugs, and because I'd been and checked the door, my body and brain assumed the teabags were in the mugs
• Once I poured the water into my mug before Gideon's - and so I didn't pour any water into his mug! That one was rectified almost immediately, when I looked into the mug and realised the absence of water, but still, it happened

Another thing for which I need to follow the same routine every time is getting dressed. Because I'm fairly highly-educated (I have a Master's degree) people assume I don't have problems with what's known in the OT circle as ADL (Activities of Daily Living), but that routine is essential to me to ensure everything gets done.

My dressing routine goes thus:

1. Underwear (bra then knickers)
2. Top
3. Trousers/skirt
4. Socks (in summer I often forgo this step, as I tend to wear sandals)
5. Jumper/hoodie/cardigan/etc

But if I put trousers or a skirt on before a top, I forget to put the top on. On several occasions I've moseyed around for a few minutes before realising my upper body is a bit cold, and only then does it dawn on me that I have no top on, just my bra! It's not such an issue if I notice before I wander into the kitchen, but if the blind is up in the kitchen, anyone glancing in gets a view of me in my underwear! It's also less of an issue now because the only person I live with is my husband; previously, I lived with one female now-ex-friend and one male friend, so my poor male housemate on several occasions nearly had the semi-topless view (I'm glad for his sake that this never happened; I noticed either before I got too far out of my room or it was on days when he was already out).

When I'm going out, if it's cooler/wet, I need to put my shoes on before a coat. Because if, as I discovered on Monday (perhaps "rediscovered" as I'm certain this isn't the first time it's happened; Monday is just fresh in my memory?), I put the coat on first, I will forget to put my shoes on. This leads to me being halfway to the car before realising I still have my slippers on! This is because the act of putting my coat on means my brain assumes I have already put my shoes on.

It's not just these two things; they're just two examples of my daily life and I could easily give many more! And it's not just me; this is standard for autistics.

When I get interrupted mid-routine, it really throws me. If I'm in the middle of certain activities, please let me see them through and don't interrupt me. Please let me finish. Please don't be offended or take it personally if I don't respond until I have finished that routine.

I used to refer to this as "ditziness"/"being a ditz" because it seemed to fit the meaning, but now I know I'm autistic, I've come to realise that it's because of this.

I do think there's an over-pathologising of autistic people's behaviours in some cases, but in this case it's definitely part of the autism.

The routines and structures are necessary to enable us to live our lives. They don't cause harm, they help us. Be respectful of that and accept that.