We've got some exciting ground breaking research to share with you! Finally, a reason for the muscle/joint issues many people living with autism have has been uncovered.
Sometimes we find it really perplexing when dealing with the NDIS planners (especially poorly trained LAC partners) that they cannot comprehend the body-wide problems people living along the ASD spectrum may experience. Many times we find ourselves having to go over ground that people in these roles ought to have a basic understanding of... or worse... having to do it again under a review of decisions. And within all of this... the need for a argument (err...robust discussion supported by evidence) on what are the features of autism and what does reasonable and necessary ACTUALLY mean for the person. Hello... its not just sitting outside the neurotypical group, planners *grumpy face*
But finally there is now a clearly identified biological mechanism which connects neurological and physical problems. No escaping your obligations now NDIS. *evil genius laugh*
New research has clearly established that a gene expressed in the brain and already associated with autism - called SHANK3 - is not just found there but throughout the neurons in the body too. This gene is KNOWN ALREADY to cause problems in the synapses of brain neurons. So what are synapses? They are the end parts of each nerve cell. While the nerve itslef uses an electric signal.. at its ends... where it joins to another nerve cell is the synapse which uses chemical signals to kick star tthe next nerve cell into action.
The SHANK3 gene is located on chromosome 22. Mutations or other problems with were already known to cause the synapse of nerve cells in the brain to be smaller and not function as well (release neurotransmitters). This gene makes a protein within the synapse known as proline-rich synapse-associated protein 2 (ProSAP2) which is directly affected and is unable to fully perform its role to help nerves pass messages back and forth with each other. This gives rise to a broader range of problems in people living with autism around cognition, thinking, their senses, sleep problems and putting information together in a coordinated way.
The new research extends where SHANK3 is found and active. It has established that the synapses in nerves outside the brain also express and need it. Specifically, at the end of each nerve where it connects to skeletal muscles to help them keep their tone, or contract and relax so we can move. The effect is that the chemical messages between a nerve and a muscle are not as strong. It causes the muscle to not be as effective and is the direct reason (known identified) why many people with autism also live with LOW MUSCLE TONE (technically called hypotonia meaning low tone). So why is this you may ask?
Well, your brain usually sends signals to all of the skeletal muscles so that they have at least a 'resting' tone meaning even when we are at rest and doing nothing our muscles are held ever so slightly activated so we can sit upright and not flop around or fall down. How many people recognise these kinds of symptoms in children and toddlers living with autism? Interesting right...?!
Equally, while the brain gets better at controlling the muscles as we get older... and intensive therapy can really help here... there is a clear reason why as people with autism reach into adulthood that they continue to experience physical issues. And also... as they age why these problems may get worse again (ongoing therapy is NEEDFUL to keep their nerve/muscle synapses working as best as possible - or think use it or lose it to help remember). Importantly, it identifies that lifelong physical therapy, ongoing training, gym attendance, etc is now a very important part of staying healthy well across a person living with autism's lifespan (such therapy encourages the synapse to work as best as possible despite the SHANK3 problem - but if you aren't doing this... the problem causes the synapse to erode.... and physical functioning decreases). Its completely known now... its not fake... its a REAL problem specifically related to ASD. No more hiding and blathering NDIS planners... its time to do your job! And this is evidence which is undisputed in the medical literature and would stand AAT use too.
For people living with autism... this also means that regular gym session/program needs to be an essential part of your daily life to reduce the effects of this problem and to keep healthy. It also explains why adults with autism who aren't regular gym goers tend to accumulate ongoing physical problems too... and how joints and pain syndromes can arise because the muscles begin to function much less reliably... placing addition stress on joints, etc.
Read more about this exciting research here (a reasonably plain English article but links to the full on scientific paper also)
