What is Autism? A different way of thinking about it – Part 1

What is autism? This is a question that I’ve been asked a fair number of times and each time I’m asked it the whole thing gets a bit more complicated. As you learn more about autism, you generally find out that you can’t make a simple definition as in reality it is so varied for each person that it becomes difficult to say exactly what it is.

But of course definitions exist – because as humans we love to define things. In this article we are going to talk through some of the historical features and diagnostic criteria used over the years, talk about any newer research trends that offer different ideas and conclude in my opinion (the part I’m looking forward to – but we need to build to it!)

Pre-1943

While the bare bones of what we understand autism to be today was not described until the 1940s, unsurprisingly people were autistic before then. It was termed different things, including a “silent madness”, “affective insanity and moral insanity”, “dementia infantilis”. One of the examples I read that I kinda liked was the idea of “enfante sauvage” or wolf children, where a child would appear in a community and be thought to have been raised by wolves as they “walked on all fours, were incentive to cold and ate only raw food”. 

The article I was reading went on to discuss the case of such a child called Victor (in 1798), who is a really fascinating example. In this article, and others, he is described to:

• Have a “shifting and expressionless” gaze
• Be “insensitive to loud and pleasing noise” – “a pistol could be shot by Victor’s ears, however, he would have no reaction”.
• Be “indifferent to smells”. Though other accounts say he would “smell anything given to him, even things which we consider devoid of smell”.
• Not react to heat “dipping his hands to pull out a potato from boiling water” without any apparent pain
• Only make “guttural sounds” (sounds from the back of the throat – try making sounds from the back of the throat and you’ll understand what sort of noises)
• “Not imitate”
• “Attend(ed) only to objects that he wanted”
• Be unable to climb a chair to get things that he wanted
• Walk with an “uneven, rocking gait”. Most often he would just “sit and rock” by himself.
• Seem to have a general “melancholy” and contemplative sadness, but occasionally have outbursts of laughter when exposed to bright visual stimuli (ex. The sun, a bright moon, the snow). He had a love of the outdoors.
• Be “a glutton” but ate very specific things (potatoes, nuts). “His primary interest was food”.
• Have some sleep problems (not going to sleep until late into the night)

This is a pretty complete description of a lot of quite typical autistic traits and signs of sensory dysregulation. The more interesting thing was what happened with him where the doctor caring for him (Jean Itard) supported him with a graded behavioural training programme essentially to improve his social skills, extend his interests and get him to talk (guess what – all the new behavioural therapies are not new things, they’ve been having for ages!). Five years later he was real success story, learning to “distinguish emotions expressed by different tones of voice”; showing affection for others and enjoying helping them; enjoying his lessons; using objects imaginatively, and asking for things with “primitive writing”. Other reports stated that he was able to go to formal events and (partly) pass. His spoken language did not progress beyond monosyllabic sounds, but still this is a really impressive development and shows how intensive support can really help people. Itard went on to work with lots of other mute children and was essential a quite early form of a physician with a speciality in learning disabilities, which is really nifty (history is great fun!). Of course, sadly it wasn’t all good practice (reports of him hanging the boy, who was afraid of heights, out of a window as a part of his ‘cure’) so lets just be glad for human rights legislation in today’s society.

There are lots of other fascinating cases, but lets jump forward to when the term autism was first used in 1911 by Bleuler. In this scenario it was used to describe a symptom of severe schizophrenia. I couldn’t see the original source, but one paper describes that he termed autistic thinking as “infantile wishes to avoid unsatisfying realities and replace them with fantasies and hallucinations”, in other terms a ‘rich’ internal life that is inaccessible to others taken to a pathological level (in the case of schizophrenia with the so called ‘positive symptoms’ of hallucinations and thought insertion/projection ect.). The term of autism was then used for this idea for a long time, with it starting to change in the late 1940s after the distinct works of Kanner and Asperger.

1943 and 1944

Leo Kanner in the US and Hans Asperger in Germany are generally coined for doing the first bits of formal research regarding autism as we know it today. Kanner discusses the cases of eleven children (with both male and females at an 8:3 ratio) who ultimately are described to have “Kanner Syndrome” (because this was the age of physicians naming conditions after themselves). He described the pathognomonic feature (the unique one to the disorder that is key for the diagnosis) as the child’s “inability to relate to themselves in the ordinary way”. He emphasised how the children have always presented in this way and didn’t develop this over time (unlike in schizophrenia). He reports about how direct physical contact, motion or noise would be ignored or “resented painfully” (as it would detract from the child’s “aloneness”). Three of the children were mute, with the others acquiring the ability to speak within the time for typical development and some having delay. Some had memorised lists, rhymes and poems with complete recall having “excellent rote memory”. There were discussions about literal interpretations of actions; personal pronouns being repeated just as heard and echolalia. Sensory sensitivity is a feature in the children (loud noises and moving objects leading to “horror”). He came to a description of the child’s behaviour being governed by an “anxiously obsessive desire for the maintenance of sadness”. Ultimately Kanner gave a description of a load of the characteristics of autism (from an external perspective).

A year later (though their work will have been happening at the same time), Hans Asperger revealed his studies into 4 cases of “autistic psychopathy in children”. Sadly, I can’t read German very proficiently and so I’m going to have to go through other people’s work to understand what he wrote. His article discusses a different group of individuals. He discusses the case of a child called Fritz who:

• Had a normal birth and no obvious brain injury.
• Had delayed motor milestones and was generally “extremely clumsy”
• However, he learnt to talk very early and soon talked “like an adult”.
• Never became integrated into a group of playing children.
• Had uninhibited behaviour, “quickly becoming aggressive”.
• Had “no real love for anybody, but occasionally had fits of affection”, which weren’t pleasant and felt quite forced.
• “Did not care if people were sad or upset about him”.
• “Lacked distance and talked without shyness even to strangers”.
• Didn’t enter into eye contact.
• Lacked the normal speech melody and natural flow of speech.
• Played with toys in a sensory way rather than a functional way (‘didn’t know what to do with blocks so either chewed them or threw them to hear the sound’)
• Didn’t particularly like busy environments (responding with aggression).
• Showed a lot of oral fixation on objects and the environment.
• Was never physically relaxed.
• Interestingly his mother was pretty similar to him in a lot of ways. His father was reported as having “no reported peculiarities”, but is later described as being extremely pedantic and keeping a more than usual distance.

And this goes on. The paper describes a lot of factors but is very biased in the direction of Asperger’s perception of behaviour, discussing about how the child is naughty and calculating (sadly this is likely one of the things that influenced a fair amount of how autism was understood by society after this).

He then brings this to a second case study, a child called Harro, for which he seems to find the child a bit more socially acceptable – so that’s nice. He commented on how “the positive aspects of autism become obvious: the independence in thought, experience and speech.” The features he describes about him:

• He was a smart kid, but sometimes refused to do things. “His stubbornness and independence were evident very early”.
• Little things could drive him into a “senseless fury” and was “extremely sensitive to teasing”.
• He always told the truth when asked directly, but often told “long, fantastic stories, (with) his confabulations becoming ever more strange and incoherent”.
• He had shown “social unconcern in sexual play…allegedly going as far as homosexual acts”.
• He had an “unusually mature and adult manner of expressing himself”.
• He had a large capacity for introspection being able to analyse himself as a “detached critical observer”. However, was aloof from things and people.
• He had an alternative method of problem solving, which appeared to be so complicated that it resulted in errors. Overall, this lead to Asperger to declare that in autism there is a particular difficulty in mechanical learning (an inability to learn from adults in conventional ways). “Instead, the autistic individual needs to create everything out of his own thought and experience”. His attention would be drawn away from the tasks being given to him and instead to the things that were important to him.
• His father was pretty similar in characteristics to him and would have been considered “highly eccentric”.

There is more than this but this was what I could access at the time. Essentially put, Asperger put forward some cases that were later taken through work by Lorna Wing to produce the Asperger’s syndrome label that was later used.

What happened after this?

At this point various people started to be involved in discovering about these conditions that had been evidenced. Kanner worked with Eisenberg to follow up more than 100 children over the 30 years after this. Overall people started to have more understanding of the conditions. Lots of theories as to the origin’s of the disorder were thrown around (from the extreme male brain theory which is still being discussed to now disproved things where mothers were being blamed for causing it through their parenting style). The syndrome was validated in the 1960s by Michael Rutter (I wasn’t able to access the papers on this sorry!) and he conducted twin studies which showed the strong genetic basis of the disorder.

Ultimately we ended up with the DSM and ICD definitions of the disorder(s), which we’ll now focus on what the definitions today are.

DSM-V

The DSM and ICD are the major sources where the features of disorders are reported and when making a clinical diagnosis of autism physicians refer back to what is stated in them. The DSM-V was an interesting one as it took all of the subtypes of autism and merged them into one umbrella diagnosis of ‘Autistic spectrum disorder’. I could copy and paste the criteria in, but instead I’ll give a summary (if you want the actual criteria to have a read on then have a look on Google):

• There are five criteria that need to be satisfied and an additional severity scale to further classify the presentation
• Criteria A is focussed on “Persistent deficits in social communication and social interaction across multiple contexts”. This includes deficits in reciprocal communication (including reduced spontaneous initiation or response to social interaction); deficits in nonverbal communication (including poor eye contact, abnormal body language and lack of facial expressivity); and deficits in developing, maintaining and understanding relationships. Overall – this one is focussed on looking at if their social communication skills are appropriate for their stage of development and if this has been consistent throughout their life.
• Criteria B is focussed on “Restricted, repetitive patterns of behaviour, interests, or activities” – for this criteria two of the following features need to be demonstrated: stereotyped or repetitive motor movements, use of objects and speech (ie. Stimming, echolalia, idiosyncratic phrases); insistence on routine; presence of special interests that are abnormal in intensity or focus; hyper- or hyposensitivity to sensory information.
• Criteria C is to check if the symptoms have been present from an early developmental period (with the caveat that they may not be pronounced until the social demands exceed limited capacities, or may be masked by learnt strategies).
• Criteria D is to check that the symptoms cause significant impairment across all aspects of life (ex. social, occupational)
• Criteria E is a standard exclusion criteria seen in a lot of DSM disorders where it basically states that no other condition should be able to explain it better.
• There are the specifications that can be made to further characterise (ex. Presence of intellectual impairment, presence of language impairment, association with known medical/genetic conditions, presence of catatonia).
• Then there is the severity scale – this ranks from level 1 to level 3, where level 1 means they require some support, while level 3 means they require very substantial support.

The ICD-10 criteria are split for each disorder, but have similar themes to the DSM-V. But if you are to go and see a doctor about an autism diagnosis today it is likely that they will be thinking about it in regards to these criteria.

Before finishing this part (as I have realised that this has gone on waaaaaaaaaay too long and therefore will be splitting this into another part) let’s go through the strengths and limitations of this system.

Strengths:

• Brings together a lot of factors from previous research quite nicely and so brings in some core features that are important for distinguishing the diagnosis from others.
• This version has some recognition of factors that weren’t in previous versions (ex. The presence of sensory perception differences, the idea that adults with autism may mask the presentation of the disorder through learnt behaviour).
• The severity scale is helpful to have and generally diagnosing something when it is not causing any problems for the person is not a useful thing to do (and can cause more harm in some cases).
• It distinguishes autism from other conditions through its persistent nature throughout someone’s life.
• While you need two things from category B to qualify, category A is a bit more open to interpretation. This is helpful due to how varied autism can be as a condition and so being able to think creatively around the presentation can be important.

Limitations:

• In changing the system and bringing all forms of autism under one umbrella it can make it trickier for people who have been diagnosed previously to know their place in current methodology (ex. People previously diagnosis with Aspergers), which adds in a challenge of changing how you label someone who may not like the idea of that changing. But also this makes it difficult for certain specialist types (ex. Rett’s syndrome) that can present in more specific ways.
• The criteria narrows the previous system (where there were three criteria in social impairment, language/communication impairment and repetitive/restricted behaviours) into two while creating a new diagnosis of social communication disorder if they have impairments in language/communication but not repetitive/restricted behaviours. This means that some people who may have been diagnosed with autism previously may not be diagnosed if checked with these criteria. Whether this is a good thing or not is a thing of debate and specific to the individual.
• It still has a focus on what the clinician can see (signs) and less on what the patient reports they experience (symptoms), which is generally an issue in our approach to autism throughout healthcare. I’ll get onto this more in part 2.

So that’s where I’ll end it for now. Thanks for reading up to this point! If you have any comments on this then please leave them in the comment box. Anything I missed? Anything I got completely wrong? Let me know – I’ll read it with a slice of cake and a glass of water.

References:

• Cohmer, S. (1943). Autistic Disturbances of Affective Contact. Embryo Project Encyclopedia (2014-05-23). URL: (http://embryo.asu.edu/handle/10776/7895.)
• Evans, B. (2013). How autism became autism: The radical transformation of a central concept of child development in Britain. 26 (3). 3-31.
• Kanner, L. (1943). Autistic disturbances of affective contact. Nervous child. 2. 217-250.
• Philo, C. (2016). ‘Looking into the countryside from where he had come’: placing the ‘idiot’, the ‘idiot school’ and different models of educating the uneducable. Cultural Geographies.
• Silberstein, RM. (1962). Jean-Marc-Gaspard Itard and the savage of Aveyron: an unsolved diagnostic problem in child psychiatry. Journal of the American Academy of Child Psychiatry. 1 (2). 314-322
• Wolff, S. (2004). The History of Autism. Eur Child Adolesc Psychiatry. 13. 201-208.
• Asperger: The Hyposocial Human Blog (https://aspergerhuman.wordpress.com)
• Diagnostic and Statistical Manual of Mental Disorders, 5^th Edition.