Do we all have autism?
As we approach an age where technology controls a major portion of our daily lives,
medicine is beginning to create fantasies that were otherwise impossible into a reality. The
subject of autism, the impairment of one’s thoughts and ability to communicate with others
has quickly become one of the mainstays in research and development for medicine. And
yet, the direct causes of it have eluded researchers for years, if not decades. However,
research over the past decade is perhaps changing the conversation from ‘how we get it’, to
‘how we activate it’, as researchers across the globe believe that everyone, from big and
small to young and old, carry the genes for autism. The main subject matters that I will be
touching on is how our information regarding autism has changed across several centuries
and finally the breakthrough research that has lead scientists believe that we all carry the
recipe for autism, we are just waiting to be activated.
The history of autism is vast and mostly unknown up until around the 20th century, where its
discovery prompted a surge of curiosity due to its puzzling and perplexing nature, and hence
research was massively funded. An article from Sula Wolf 2003, pg. 201-203 outlines one of
the earliest recounts of autism whereby a man in 1747 named Hugh Blair, aged 39 famously
appeared in a court of law to determine his mental capacity and ability to contract a
marriage. The reasons for concern were due to the external symptoms he displayed, such as
tactlessness and an abnormal gaze, complemented by symptoms of echolalia. This could
have been dismissed as simple retardation, but where the true abnormalities arise is his
cognitive ability on other subjects, such as being able to recite the Lord’s prayer flawlessly
and responding with intelligence and thought regarding topics such as the catechism and
the church. This ultimately led to the creation of a book titled ‘Autism in History’ by social
historian Rob Houston, where he proclaims that autism should be acknowledged as a
disease despite the lack of developmental history and understanding. John Haslam, a
physician closely examined ‘cases of insane children’, which eventually led up to his
publication of his book ‘Observations of Madness and Melancholy’ and subsequent 140 year
prediction of Kanner’s Syndrome, one of the main subsections of autism. Cases ranged from
severe convulsions to slow speech and walking speed, all common symptoms of autistic
individuals in the modern age. The argument that symptoms of autism are simply the
external side-effects of intelligence disorder is again, disproven by the existence of ‘wolf
children’, located mainly in parts of India. When found, the children displayed behaviours
such as walking on all fours, little to no understanding of speech and whose diet only
consisted of raw meats. The belief is that the children were simply abandoned by their
parents due to their inability to take care of them due to their lack of intelligence and other
socioeconomic factors(ie. Poverty), and many disregarded them as simply a by-product of
the absence of care. An alarming question then begins to take form. How is it that this group
of seemingly unintelligent children manage to survive in the wild, let alone for this amount
of time? The general consensus is that victims of autism, while they may display symptoms
of unintelligence and idiocy, certain triggers in the brain (eg. Survival instincts, religion) can
negate and even reverse the effects and hence for a short while, become coherent,
intelligent, etc. From this, we can deduce that there must be some sort of barrier that is
blocking intellectual progression from transferring from thoughts to words and actions. But
there are cracks in the wall, mainly mental tasks that require complex thinking or have
strong emotional ties to the individual. This conclusion has led many researchers, as well as
the general public to develop a fascinating interest in the disease and hence the hunt for a
cure officially began. Autism’s nature as an unknown and even mistaken form of disease has
had a strong impact on the medicinal landscape for the last century in terms of solving its
mystery, and with it comes a vast amount of collaborative research and hence, the subject
matter of this paper; do we all have autism?
An article published by Peter Dockrill 2016 outlines information relating to a large
international study, highlighting that the main genes that ultimately lead an individual to be
diagnosed of autism spectrum disorders (ASD) is present in the general population, which
contributes to an array of social and behavioural issues less apparent than typical forms of
autism. The article then begins to detail how autism is not particularly on a finite spectrum,
but rather consists of a complex combination of various genetic differences and mutations.
A small portion of these combinations gives particular individuals a higher likelihood of
exhibiting the symptoms and behavioural disorders relating to being diagnosed with clinical
ASD. The genes that were once previously thought to be the defining remarks of autism
were now the explanation of social communicative differences within our world. Now begs
the question. Do we all have autism, and it is just at a certain level we are diagnosed as
such? An article by Jakob Grove, 2019, pg.431-449 underlines the processes of identification
of common polygenic genetic risk variants relating to autism spectrum disorder, and found
that genetic variants contribute greatly to whether a person is susceptible to ASD, however
no individual variants have been confirmed to do so to an extreme level. This is due to the
fact that many of the genes that supposedly cause clinical ASD also contribute to other
psychological illnesses such as schizophrenia, depression and learning disability and none
can be distinguished from autism easily. Not only is this a problem for researchers
developing medicine, but the specific gene structures are very difficult to replicate and
hence properly study. A dissection of the polygenic structure across a wide range of ASD
patients has found that it is massively diverse across ASD subtypes, meaning that there is no
real trend to find amongst patients, and is mostly related to their neuronal functions. The
fact that autism is mainly hereditary has led researchers to the conclusion that by and large,
everyone carries a totally unique set of genes and the combination of two mating
individuals could lead to a very unlikely and specific match, whereby the offspring possesses
the necessary gene combination to where clinical ASD is likely. In summary, genetic
combinations of genes and structures put an individual on a spectrum whereby each person
has a level, and only the most extreme levels display the typical symptoms of ASD. These
particular sets of genes are incredibly difficult to distinguish from other causes of
neurological disabilities and further cements the reputation of autism as a mysterious
disease, a disease perhaps everyone has to a certain extent.
Dockrill’s article highlights that as opposed to studying exclusively the effects of polygenic
risk factors (ie. The study of thousands of genetic differences), researchers have used the
information in tandem with de novo risk factors, rare genetic differences to narrow down
the potential sources of autism. A paper done led by Stephan J Sanders, 2012 pg. 237-241
confirms the potential risks of rare de novo variations contributing to the diagnosis of ASD.
The study of 928 individuals, each with highly disruptive forms of de novo mutations
particularly in the brain, found that their mutations had large associations with ASD, and to
massive effect. Furthermore, the research identifies an instance where two related by
proband individuals had the same disrupted gene, a result highly improbable, around 0.5%.
This study further reinforces autism as mainly hereditary, whilst also confirming the
probability that a person is born with ASD is subject to their parents. The study goes on the
record saying that while de novo mutations have strong connections with ASD, their
contribution to the potential risk is unclear. More recent research has amalgamated our
knowledge and understanding of both polygenic and de novo risk factors and thus,
researchers have made an irrefutable conclusion that all individuals carry some form of
these genes and hence, all possess the genetic risk for autism as they more or less
determine the way we interact socially. Genetics is not however, the only factor that is
present as to whether a person develops the socially inept symptoms that comes with
clinical ASD. There is also evidence of environmental factors that relate to an individual’s
development to ASD, rather than just genetic, as highlighted by Dockrill. Pauline Chaste’s
article, 2012, pg. 281-292 goes in depth into the various possible environmental causes of
autism. Over the past several decades, there has been a significant and steady rise in
pervasive developmental disorders in schools across the United States. If autism is mainly
hereditary, the number of cases should be linear relative to the general population, not rise
at a steady pace. The numbers have even suggested that the likelihood of a child developing
PDD has risen from 6 per 1000 to as far as 1 in 38. Whilst the reason behind this rise in cases
is unknown, one can safely speculate it is due to our rapidly changing world, for better or for
worse. More direct evidence of environmental factors connecting to autism can be found in
later subsections of the article. Exposure to drugs and toxins, especially during childbirth is
found to have increase the likelihood of the offspring developing ASD. Consuming forms of
valproate, especially in the prenatal stages of pregnancy is a recognised risk factor for the
development of ASD, increasing chances by up to eight times. There are also suggestions
that antidepressants in the first semester of pregnancy can increase the risk of ASD. This is
due to the rise of its use during pregnancy, from 1996 it was 1.5%, to 6.4% in 2004, to 6.2%
in 2005, complementing the steady rise of ASD cases during the same period.
With all this in mind, are we all a little autistic? Yes, but I think this is the wrong conclusion
to take. The main takeaway of these recent studies should be how much easier autism can
be to research in terms of genetics, as we have recognised that by some form, we all
possess the necessary genes for developing ASD. As Casey Povey (Dockrill, 2016, paragraph
10), director of the National Autistic Society Centre for Autism puts it, “This research
suggests that studies of the autistic population can gain from integrating studies of the
general population, and so adds to the evidence that autism involves many complex and
interacting factors including genetics, the environment and the development of the brain”.
Our understanding of the history of autism, as well as the main genetic factors that cause
autism (eg. Polygenic, de novo mutations) have all culminated to this point where we
understand who is susceptible and who is at a greater risk. If we can compound our
understanding of the other factors that cause the development of autism, as well as
consolidate our understanding of the genetic side, we may gain the key perception that will
allow us to treat and perhaps prevent the development of autism.
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References:
Chaste P, Leboyer M. ‘Autism risk factors: genes, environment, and gene-environment
interactions.’ Dialogues Clin Neurosci. 2012 Sep;14(3):281-92. doi:
10.31887/DCNS.2012.14.3/pchaste. Accessed 17 March 2022.
Dockrill P 2016, ‘We All Carry the Genes for Autism, Study Finds’ Science Alert. Accessed 17
March 2022. <https://www.sciencealert.com/we-all-carry-the-genes-for-autism-study-finds>
Grove, J., Ripke, S., Als, T.D. et al. ‘Identification of common genetic risk variants for autism
spectrum disorder.’ Nat Genet 51, 431–444 (2019). Accessed 17 March 2022.
https://doi.org/10.1038/s41588-019-0344-8.
Sanders, S., Murtha, M., Gupta, A. et al. ‘De novo mutations revealed by whole-exome
sequencing are strongly associated with autism.’ Nature 485, 237–241 (2012). Accessed 17
March 2022. https://doi.org/10.1038/nature10945.
Wolff, S. The history of autism. European Child & Adolescent Psychiatry 13, 201–208 (2004).
Accessed 17 March 2022. https://doi.org/10.1007/s00787-004-0363-5.