So, What is autism? ... and what causes it?

on genetics and environment

Autism Puzzle

An alternative view by Katy Elphinstone

  • We could describe people as 'autistic' either when they show a number of the known symptoms of autism, or when they have a genetic predisposition towards autism(1). Depending on which of these definitions we use, we will of course end up with a hugely different result in terms of who is going to be considered autistic. We currently use the displaying of symptoms as the main indicator for autism.


  • During the last years, the genetics of autism has been studied a lot by researchers, mainly in what I see as a profoundly misguided attempt to preempt and cure the 'disorder'. We now know that there are in fact a number of specific genes implicated (many of which have functions relating to synapses, and connectivity within the brain and nervous system). Theoretically, tests could soon become available to predict whether people might develop autism or not(2).

    We also know that there are people in whom genetic factors would imply autism, who however do not develop symptoms.

    Perhaps in many of these people, if you looked closely you might find a number of autistic traits such as high sensitivity, pronounced empathy (often combined with a blurring of boundaries between self and others, and a resulting intolerance for spending too much time with people or in groups), creativity and specific unusual talents (often practiced to a high degree of expertise, and/or obsessively), inability to concentrate on things that are not of interest, strong non-conformist tendencies, tendencies to startle easily and not be able to e.g. spend time in harsh or loud environments. And so on.

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    everyone says autism is genetic...

    So how can we explain why some of these apparently predisposed people develop symptoms – and can be diagnosed 'autistic' in our current system – and others not? Clearly autism defined by its symptoms is not just down to genetics(3). Whereas 'autism' defined by the predisposition (with the characteristics of hypersensitivity and hyperconnectivity within the brain(4)) does indeed implicate a person's genetic makeup(5).

    Perhaps we should examine why we are so fond of believing that autism is purely genetic – well, I think it mostly comes down to the role of blame and exoneration in our culture. We are emotionally invested in that belief (as it exonerates all but the sufferer(6)), and that's why we are so determined to stick to it through thick and thin. And in a twist of irony, autistic people themselves – who have more often than not suffered exclusion and discrimination among neurotypicals and have finally found a sense of community among other autistic people – are understandably quite reluctant to admit people into their ranks who do not appear obviously autistic, and certainly not those who haven't been diagnosed. It appears that people, both autistic and not, have their reasons for being emotionally invested in the idea.

    We as a society are attached to the idea that autistic people are somehow intrinsically wrong or sick – to the point that in the diagnosis we refer to 'ASD', Autistic Spectrum Disorder. There is currently a logistical need to diagnose specific disorders in order for children and their families to gain access to support. However, I think defining autism as a disorder may also be partly due to a fear of the unknown; a defensive (but subconscious) reaction to the strong implication that the way we currently do things doesn't work for us, individually or collectively – and autistic people show us this all too clearly by essentially acting as the canaries in our coal mine.

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    So, what is autism?
    A number of genetic traits can combine to produce unusually high levels of sensitivity and empathy in people, therefore rendering them far more likely to suffer from trauma and emotional shut-down as a result of their experiences. So the symptoms of autism actually occur as a direct result of experiencing trauma. It is no coincidence that of 48 listed symptoms of autism, 47 are indistinguishable from those seen in individuals suffering from Complex Post Traumatic Stress Disorder (CPTSD)(7).

    The genetic part of autism manifests as ‘hyper-connectivity’ within the brain – leading to hyper-perception, hyper-empathy and overall hypersensitivity to stimuli of all kinds. These things, given the right circumstances, are extremely precious qualities – not to mention actually necessary in the course of human evolution. To sum up: there is only one symptom of autism appearing on this common list that I would not attribute to trauma: ‘savant abilities: rare gift of very unusual abilities in music, math or other areas’. I could elaborate at length on this, and include a large number of special and unique qualities and abilities possessed by autistic people, but I will not do so here.

    So there is nothing 'wrong' or 'sick' about having a genetic makeup which predisposes you towards developing autism. It's not something we need to fix or cure. On the contrary, for far too long our society has strongly favoured a competitive, conformist and narcissistic typology (and few would deny that collectively we now find ourselves in a bit of a mess). If genetic tests for autism did somehow become possible, then we could use them beneficially in order to make sure these sensitive individuals do not get traumatized by their early experiences.

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    Approaching trauma

    In a follow-up article to this one, I'll go into more detail about the fundamental role that trauma plays in the lives of people who are genetically predisposed towards autism. It will compare the symptoms of post-trauma with those of autism, examining and discussing each one and how it manifests itself in ASD and CPTSD respectively (with real-life examples).

    It's important to recognize that trauma can be caused by many, many different things. People, in particular vulnerable infants and children (e.g. if they possess that hypersensitivity which appears to be the basis of autism), can be traumatized by all kinds of things that are regarded by our society as perfectly normal(8).

    Babies (from conception on) and children who are predisposed towards autism could become traumatized by any of a large number of extremely diverse environmental factors. I think examples could include: maternal stress and/or trauma during pregnancy, birth traumas(9), neglect (even at a level thought acceptable in our culture), family conflict, exposure to toxins, nutrient deficiencies, allergic reactions, exposure to abuse or cruelty, encountering habitual deceit and manipulation, disapproval, non-acceptance, ostracism, separation from loved ones, routine medical procedures, sensory overload, bullying or exclusion at school. And of course myriad other things. It is impossible for us to avoid all these things – but it certainly helps us to be aware of them, while keeping in mind the high sensitivity levels of our autistic children.

    There is also the question of what I call 'parallel disabilities or challenges'. It seems no coincidence that a higher-than-average proportion of autistic people suffer from (or have suffered from) disabilities of various sorts, challenges such as chronic illnesses or pain, and so on. All these things, in particular in hypersensitive individuals, can of course lead to trauma. They are not in themselves direct causes of autism (as is often thought, leading to a lot of confusion in this area)(10).

    The next article on 'The Role of Trauma in Autism', will shortly be published on the web site for those who are interested in following this topic in more detail.

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    Footnotes

    1. Over the last years there has been a great deal of research into which genetic factors may be significant in autism. The most well-known studies in this area are listed in the Reference section of the Wikipedia entry on the Heritability of Autism. On the same page, under the title 'Candidate gene loci' there is also a list of the genes and gene factors which are considered to play a role. The section begins "Known genetic syndromes, mutations, and metabolic diseases account for up to 20% of autism cases" – I would be wary of this kind of statement, as when one considers the role of trauma in autism, many of these things could be 'parallel disabilities' as opposed to actual causes (see 'What causes autism?' above).
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    2. A recent study (see New Scientist article, 25 March 2017: 'Why a simple autism test is unattainable') showed that if you test infants using 5 blood biomarkers known to indicate that a child might later develop autism, 4% of the children in the study resulted 'autistic' according to those markers. As only 1 percent of the population are currently diagnosed autistic, then that apparently shows that 3 out of 4 children appear to have been incorrectly labelled autistic by using the blood test. But not if you take into account the possibility of various factors in the child's life actually playing a role in developing the symptoms of autism. It is interesting to note that in the article it mentions that some of the 5 blood compounds thought to indicate autism 'are in pathways involved in helping cells resist damage from inflammatory chemicals or toxins'. Perhaps we should not entirely exclude the possibility that some at least of the blood biomarkers could be the result of already existing traumas/experiences in the child's life – or since conception.
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    3. By now this is widely recognized in the scientific community, but the mainstream is taking its time to catch up. I would not be surprised if scientists experience strong resistance from certain groups on this issue, and perhaps find it hard to gain an audience when their evidence points to environmental factors playing a significant role. Even the simple fact of it being perfectly possible in the case of identical twins (who share the same DNA), for one to develop autistic symptoms and the other not, shows clearly that it cannot just be about genetics. The recent scientific paper Genetics of Autism states "It is now believed that ASD is a result of complex gene-environment interactions, (though) with strong and clear genetic influences".
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    4. The Markrams in their paper on the 'Intense World Theory' describe in detail what the brain of an autistic person looks like, and how it is different from the brain of neurotypical people. They describe 'hyper-functioning of local neural microcircuits, best characterized by hyper-reactivity and hyper-plasticity'. They look at 'hyperconnectivity' and how there are far more connections than average (both between and within the brain's circuits) in autistic subjects... up to two thirds more in fact. It was also found in the study that those autistic subjects had more intense fear responses and stored those responses for far longer than is usual – which is extremely significant if we are considering potential trauma to these individuals.
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    5. However we like to define 'genetic'. What with current studies of epigenetics, and how environmental factors actually mutate our DNA (e.g. when it comes to hereditable genetic traits), our narrow understanding of the term 'genetic' needs to be revised. In particular it needs to be better understood by the press and general public, where it is so often used as a crutch and justification.
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    6. You may say here 'but of course it's not their fault either!', but the reality is they do get soundly punished – because of the way we currently think in our society. In fact we constantly blame and punish people for things over which they have no control. Somehow we adhere to an underlying belief that people get what they deserve – leading e.g. to a culture where we do not believe in helping the poor, weak, or otherwise unfortunate.  'You make your own luck. Just try a bit harder!'. I think we do this, usually subconsciously (even though it is illogical) because it justifies the way we live, and blatant unfairnesses inherent in our system, so that we do not have to feel guilty. How about getting rid of the concept of guilt and blame, instead? That way we could live more freely and fairly, and be safe from judgement ourselves.
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    7. The list of symptoms of autism can be found here on rightdiagnosis.com as well as from many other sources.
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    8. Of course I think we should be doing our utmost to avoid traumatizing ANY children (which I believe we are constantly doing in our culture, it's just those children manifest their distress in myriad different ways, not just by showing autistic symptoms). I've seen that there is some wonderful work being done by parents and carers, support workers etc. in doing exactly this – providing infants and children in families with high likelihood of autism (e.g. where more family members are already diagnosed) with ongoing support, therapies, loving and affectionate relationships, unconditionality... then later sensory and creative activities, contact with animals and nature etc. It has been noticed that these things all greatly reduce the likelihood of developing autism. They are also all well known to be things that provide inner stability and resilience against trauma (note: my book 'Dos and Don'ts', could alternatively be described as a parent's manual on avoiding and resolving trauma!).
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    9. A number of studies have revealed that there is a clear link between birth traumas of various kinds and the statistical likelihood of developing autism or other developmental delay disorders.
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    10. An example of this: it has been assumed that 'Fragile X' syndrome has a very significant role to play in autism. In fact it is commonly described as "the most common known single gene cause of ASD". However not all people with autism have Fragile X, and not all people with Fragile X have autism. So perhaps we're looking not at a direct genetic cause, but rather an environmental factor. Could it not be that autism develops in these individuals due to a far higher likelihood of suffering certain kinds of trauma (depending also on their experiences, obviously)? And perhaps the same could be said of many of the other most commonly implicated genetic factors in autism.
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