New perspectives on the causes of Autism
New perspectives on the causes of Autism
Autism is a complex, multifactoral disorder that is still not completely understood. Genetic factors have been identified as the main cause for a long time, however the search for the ‘Autism Gene’ has been a frustrating one. In fact, up to 850 genes have been identified as contributing to Autistic Spectrum Disorder (ASD) and not all people present with all 850. Environmental factors are also accepted to contribute as a cause of ASD with complications during pregnancy and delivery, advanced parental age and oxygen depravation being proposed factors.
However, what about the alternative practitioners who are talking about all sorts of other causes? The people who talk about leaky gut syndrome and food intolerance? Or vaccinations? Or Toxins like heavy metals, organophosphates or MSG?
Well, as diverse as these two fields have been in the past, recent research has taken some exiting new directions which may provide a link between the two. I would like to discuss two key concepts introduced in the past few years.
1) Firstly, the concept of Cellular Detoxification Issues. James Lyons-Weiler in his recent (2018) review article presents compelling argument that ASD people (and children) commonly have detoxification problems that may aggravate their underlying genetic susceptability. Rossignol and Frye (2014) also discuss this concept of stress on cells and tissues (oxidative stress) in ASD linked to detoxification issues. This may make people on the spectrum much more sensitive to environmental toxins and chemicals, to heavy metals, glutimate and MSG as well as metabolic toxins. This toxic stress could allow more of the ‘bad’ genes to be switched on or expressed. The accumulation of certain toxins could affect (or irritate) the immune system and potentially result in things like inflammation in the nervous system (or brain) or inflammation in the gut.
2) Secondly, the concept of Neuroinflammation. This is a state where the immune cells within the nervous system and the brain react to toxins, injury, aging or infection. This is part of a normal healing process, but if the trigger is prolonged (like toxins) then the inflammation can become chronic. This could then put additional stress on those nerve cells, and potentially result in cell death. (Please feel free to read more on the subject from ScienceDirect ). This tendency toward increased inflammation in the brain is now well linked to Autism and other neurological disorders. (See Dipasquale et. al 2017; Rossignol and Frye 2014; Hong et. al, 2016, among many others)

So the idea is that a child may be born with genetic tendencies toward autism and quite possibly toward cellular detoxification issues. Then if toxins build up (either from normal metabolic toxins, or toxins from the environment or food) they put stress on immune cells and potentially cause inflammation in the nervous system, possibly affecting brain function.
As alarming as having an inflamed brain sounds, this is a concept that is exciting to researchers and therapists, as it gives a potential option to explore for treatment of ASD and neuroinflammatory disorders (see Radtke et al, 2017, Ribeiro et. al, 2013, Diana Lurie 2018.). But I feel that it is important to try to take a step back and look at the detoxification issues as a potential cause of the inflammation.
Can these cellular detoxification mechanisms be tested? Yes, to a large extent, they can. Many of the genetic issues affecting common detoxification enzymes can be assessed with a comprehensive epigenetics panel like the Genewell test. The panel should include methylation, Phase I and Phase II liver SNP’s and anti-oxidant pathways.
I feel that natural medicine has a lot to offer in terms of detoxification support! I also feel that understanding a persons particular ‘weak areas” can help us to guide people towards a healthier lifestyle. Potentially avoiding things that could create oxidative stress and inflammation. I find the idea of how detoxification issues and the resulting inflammation fit together with genetic tendencies, and I feel this new understanding will open up new options to provide help, particularly in children where we want to try and remove as many obstacles as possible to their neurological development.
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