why Ed Ritvo’s research was ‘inconclusive’

Ed Ritvo is a major figure in autism research. For decades, he and his colleagues explored the anatomy and physiology of children diagnosed with autism. In Understanding the Nature of Autism and Asperger’s Disorder, published in 2006, Ritvo sets out their key findings:

-stepwise rather than smooth, developmental trajectory
-perceptual inconstancy
-delayed language development
-delayed development of relatedness
-delayed maturation of REM sleep
-delayed development of balance system
-multiple differences in brain anatomy and function.

Despite the breadth and detail of their research, many findings were inconclusive because some, but not all, participants showed particular features. Ritvo concluded that new tools, notably gene research, were required before the causes of autism could be identified.

On re-reading Ritvo’s book recently I noticed things I’d overlooked first time around.

1. Bleuler wasn’t an historical figure to Kanner or Asperger

In Chapter 1, Ritvo introduces us to the to the eminent Chester Keefer, Dean of the Boston School of Medicine when Ritvo trained there in the 1950s. Dr Keefer insisted his medical students study the history of a medical condition. Ritvo notes that Leo Kanner, who published his seminal paper ‘Autistic disturbances of affective contact’ in 1943, shared with Keefer “a love for the history of medicine and the wisdom it conveyed. This is why I am sure that Dr Kanner was very familiar with the writings of a famous Swiss psychiatrist, Eugen Bleuler. This is because he borrowed Bleuler’s term “autistic”: to describe the fact that his young patients could not relate emotionally to others.” (p.21). Ritvo makes the same claim for Hans Asperger (p.23).

But Kanner and Asperger wouldn’t have had to go far back in history to borrow Bleuler’s term ‘autistic’. Bleuler, based in Zurich, coined the term ‘autism’ to describe a feature of schizophrenia in his Dementia Praecox, oder Gruppe der Schizophrenien (Dementia Praecox, or the Group of Schizophrenias) published in 1911. His much reprinted Lehrbuch der Psychiatrie (Textbook of Psychiatry) came out in 1916, only five years before Leo Kanner qualified in medicine in Berlin, and 15 years before Asperger qualified in Vienna. In other words, Bleuler was as much of an historical figure to Kanner and Asperger as Chester Keefer would have been for Ritvo. Kanner and Asperger used the term ‘autistic’ in the way it was used in contemporary textbooks. The fact that Ritvo thinks Kanner and Asperger viewed Bleuler as an historical figure implies that he wasn’t aware they were contemporaries.

2. Ritvo’s medical model is incomplete

Ritvo also introduces us to Chester Keefer’s medical model of disease (p.18).

Ritvo is writing for a non-specialist readership, so might have simplified the model. But it omits some important features.

Symptoms: what the patient reports. Signs, in contrast, are features of the condition that can be observed by others. Autism has always been diagnosed on the basis of signs rather than symptoms, but Ritvo doesn’t include signs.

Pathology: what we think of as abnormal or pathological depends on what we think normal is. There is no standard issue human being. Variation between human beings isn’t always pathological. Autistic characteristics aren’t always pathological.

Causes: A particular pathology can be due to one or more causes, but similar symptoms can result from different pathologies. There’s no doubt that everyone with a fever, sore throat and rash has a sore throat, fever and rash. But those symptoms could be caused by smallpox, chicken pox or measles, to name but three. There can be different causes for similar symptoms in different patients. Similarly there can be different causes in different people for autistic characteristics.

3. Turning an adjective into a noun isn’t just a quirk of language

Ritvo comments: “We have a tendency in our language to change adjectives into nouns. Thus, soon after Dr Kanner’s first paper appeared with the adjective “autistic” in the title, it quickly morphed into “autism”: a thing. Now children had autism or were called autistic” (p.21). Ritvo attributes autistic [adjective] turning into autism [noun] to a tendency of language. In fact, it’s a cognitive process known as reification (making into a thing). Here’s how the transformation from ‘autistic’ to ‘autism’ appears to have happened:

Eugen Bleuler used der autismus [noun] as a descriptive shorthand term for one of the characteristics shown by schizophrenic patients. Medicine is replete with shorthand descriptive nouns because physicians observing patients need to make notes quickly.

Let’s say a patient shows dysphasia (difficulty with speech) and alexia (inability to read). You could say that they ‘have’ dysphasia and alexia. But they don’t ‘have’ dysphasia and alexia in the same way as people ‘have’ measles or malaria. Measles and malaria are specific medical conditions with known causes, so the diagnosis tells you what the signs, symptoms and causes are. In contrast, dysphasia and alexia are merely descriptive labels. They could be caused by a stroke, a tumour or traumatic head injury; the labels don’t tell us.

Bleuler coined the term autism as merely a descriptive label. Kanner’s 1943 paper was entitled ‘Autistic disturbances of affective contact’ because Kanner was using autistic [adjective] to highlight similarities between his child patients and one of the features of Bleuler’s schizophrenia (some of Kanner’s patients had previously been given a diagnosis of schizophrenia).

It’s true that by 1956, Kanner and his colleague Leon Eisenberg (Eisenberg & Kanner, 1956) were no longer referring to “autistic [adjective] disturbances of affective contact”, but instead to “infantile autism [noun]”, but that wasn’t due to a tendency in English to change adjectives into nouns. It was because Eisenberg and Kanner felt there was sufficient evidence to support Kanner’s original hypothesis that he had identified a “unique ‘syndrome’, not heretofore reported” (Kanner, 1943 p.242).

That would have been a reasonable conclusion had it not been reached by drastically reducing and broadening the number of “essential common characteristics” exhibited by the children. Kanner had originally described 20 very specific “essential common characteristics” in 11 children – which Kanner’s own observations showed were neither essential nor common. By 1956, 120 children had been diagnosed with Kanner’s syndrome, but some of Kanner’s original ‘essential common characteristics’ had been discarded, and the remaining 15 were collapsed into five. And in the 1970s, Lorna Wing and Judith Gould (Wing & Gould, 1979) screened nearly 1000 children and reduced the number of criteria to three (later known as the Triad of Impairments).

What is autism anyway?
In short, the larger number of children diagnosed, the fewer and broader the diagnostic criteria had become. Or to put it another way, broadening the diagnostic criteria meant that more children qualified for the diagnosis. It’s the equivalent of diagnosing all patients with a fever, sore throat and rash as having ‘fever-sorethroat-rash’ disease even if each patient has a distinctive rash indicating smallpox, chicken pox, or measles. ‘Autism’ or ‘autistic’ as descriptive shorthand labels had been reified into a thing called ‘autism’.

Why does it matter if Ritvo thought Kanner and Asperger saw Bleuler as an historical figure, or that he thought ‘autistic’ had morphed into ’autism’ due to a quirk of language? It matters because our conceptual model of a medical condition affects the way we interpret data about the condition.

‘Autism’ is a broad label. Many different underlying physical variations can result in autistic characteristics (see for example The Biology of the Autistic Syndromes by Gilberg & Coleman). But practitioners are pretty much obliged to use the official (broad) diagnostic criteria for diagnosis or accessing support. So are researchers, if they want to qualify for funding. This means there’s an assumption implicit in their research models, that all the people in an autistic group will have the same cause for their autistic characteristics. Here’s a hypothetical example to illustrate the type of problem that causes (please note this is a made-up experiment and I’ve simplified the representations of the results to illustrate the point)…

Many people diagnosed with autism report being hypersensitive to sensory stimuli (visual, auditory, tactile etc). Let’s say we design a series of experiments to test the hypothesis that autism is caused by sensory hypersensitivity. We might start by comparing auditory sensitivity in an experimental group of 20 people diagnosed with autism, and a control group of 20 typically developing people.

Let’s also say our results show that on average, our autistic group have higher scores for auditory sensitivity than our control group, but the difference isn’t statistically significant. We could represent the mean scores like this:

Furthermore, two members of the autistic group have the lowest auditory sensitivity scores of all participants, and three of the control group have higher scores than the autistic group average.

What do we do with the atypical scores in both groups? If we include them in our data we get an inconclusive outcome, but if we assume they’re due to an experimental artefact, call them ‘outliers’ and ignore them, our average scores will be statistically significantly different.

Alternatively, we could further investigate the variation within both groups, because:
-We might actually have two groups of autistic people – one where auditory hypersensitivity contributed to their autism, and one where it didn’t, or
-Auditory hypersensitivity might vary across the general population and be incidental to a diagnosis of autism.

Our example is a made-up experiment, but similar results have been found in real experiments (Gerrard & Rugg, 2009). Inconclusive findings about x being a cause of autism, are usually interpreted as ‘there is no evidence of x causing autism’ which is further interpreted as ‘x doesn’t cause autism’. Of course absence of evidence isn’t evidence of absence, especially if the absence of evidence is due to groups of people diagnosed with autism being assumed to be homogeneous rather than heterogeneous.

Ritvo pioneered some important research, but progress in much of it stalled solely because of the assumption in the research design that people with autistic characteristics form a homogeneous group. The later genetic studies,that Ritvo was looking forward to, have made it clear that different people can have different causes for their autism.

References

Gerrard, S & Rugg, G (2009). Sensory Impairments and Autism: A Re-Examination of Causal Modelling, Journal of Autism and Developmental Disorders, 39,1449-63.
Gillberg, C & Coleman, M (1992). The Biology of the Autistic Syndromes (2nd edition). Mac Keith Press.
Kanner, L. (1943). Autistic disturbances of affective contact. Nervous Child, 2, 217-250.
Ritvo, E R (2006). Understanding the Nature of Autism and Asperger’s Disorder, Jessica Kingsley Publishers.
Wing, L. & Gould, J. (1979). Severe impairments of social interaction and associated abnormalities in children: Epidemiology and classification, Journal of Autism and Childhood Schizophrenia, 9, 11-29.

why parents get the blame

Popular opinion about the right way to bring up children has, throughout history, varied between authoritarianism at one extreme and liberalism at the other. Child-rearing practices have typically been determined by expediency, experience or belief. Freud’s ideas about child-rearing caused a sea-change in thinking about the relationship between parents and children, because his ideas were based on an explicit theory involving the biological characteristics of human beings, rather than being derived from beliefs or pragmatic responses to circumstance.

Sigmund Freud

If I’ve understood Freudian psychodynamic theory correctly, it’s grounded in the Darwinian principles of inherited characteristics and natural selection. Freud proposed that the psychological forces that drive behaviour are passed on from generation to generation in the same way as physical characteristics are inherited. Over time, natural selection ensures that the physical characteristics and behavioural drives that maximise a species’ chances of survival are preserved. During a child’s development, all that’s required for these biologically provided physical and behavioural characteristics to ‘unfold’ naturally is a suitable environment. Physical development can be ‘disturbed’ by factors such as a poor diet or living conditions or by practices such as circumcision or foot-binding; behavioural development can be disturbed by parents or other adults being too controlling or imposing unnecessary social or religious taboos. In short, the model is one of each child having a species-specific genetic blueprint for development that, given appropriate conditions, will unfold naturally to produce a healthy adult human being. Two factors could disturb that unfolding process;

-a fault in the mechanism of inheritance (a chromosomal abnormality)
or
-external interference with the child’s natural course of development.

Two key points about the psychodynamic model

Firstly, the psychodynamic model assumes that potentially there is such a thing as a ‘normal’ human being – someone whose biologically provided development has been allowed to unfold naturally – even if in real life, the course of development is often disturbed, resulting in everybody having flaws of some kind.

The second point is that this theory puts parents squarely in the firing-line – developmental problems arise either because parents have passed on their faulty genes (even if they have no control over that) or because they are the most likely suspects when it comes to the child’s course of development being disrupted.

Psychodynamic theory had a huge impact on thinking about child development in the early part of the 20th century – it made people think about child development for a start. It also had beneficial outcomes for many children in terms of their health, education and psychological development. But there was a downside. Regardless of the personal views of psychodynamic theorists, psychodynamic theory is closely associated with eugenics. Although genocide, enforced sterilisation and limiting opportunities for certain sectors of the community have happened throughout history and would probably have happened in the early 20th century even if psychodynamics hadn’t been thought of, psychodynamic theory undoubtedly lent weight to these policies.

Logo from the Second International Eugenics Conference, 1921

Both Freud and Kanner were aware that knowledge about the biological process of inheritance was sketchy, and both expected subsequent research to shed light on their theories. Although some of Freud’s ideas have received support, there’s little evidence for the idea that social and sexual behaviour derives solely from unconscious drives. Although unconscious processes must affect social and sexual behaviour, the brain areas most involved during our interactions with others are higher-level rather than lower-level areas.

Despite 50 years of research into genetics and brain function bringing psychodynamic theory into question, the two explanations offered by psychodynamics for abnormal human behaviour have become deeply embedded in popular thinking in the developed world; either there’s a genetic/medical explanation or the parents must be responsible. Since WWII politicians and social scientists, not surprisingly, have been wary of genetic explanations for atypical or socially unacceptable behaviour, so causes are frequently framed only in environmental terms, often in terms of childhood experiences. In the absence of a medical diagnosis, the parent is often assumed to be responsible. But research suggests that the relationship between genes, environment and behaviour is much more complex than psychodynamic theory suggested.

Genes

The psychodynamic model saw genetic material as providing a blueprint – an engineering diagram – for development, based on Gregor Mendel’s ideas of independent segregation and assortment of genes. But later research has shown that DNA doesn’t work quite like that. DNA is a complex molecule, so when gametes (eggs or sperm) are formed, and when DNA from two parents combines during fertilisation, there’s plenty of scope for genetic variation. Indeed it’s the genetic variation in individuals that maximises a species’ chances of surviving environmental change. Because of the structure of the DNA molecule, some genetic variations are robust enough to be transmitted between generations and are inherited. Others might arise spontaneously. Some variations are common, others rare. As far as genetics is concerned, it’s meaningful to talk about ‘normal’ and ‘abnormal’ in descriptive terms (most people are like this but not like that) but not in normative terms (people should be like this but not like that).

Environment

Human beings are biochemical organisms so many environmental factors impact on our development. Some (epigenetic) factors can affect the expression of genes. Other factors, such as diet, toxins, allergens or infections can disrupt physiology and development. Other people’s behaviour affects children but parents aren’t the only people involved; other children, teachers, neighbours and wider community and societal issues can have a significant impact on a child’s development.

In short, what the last 50 years of research has shown is that inherited characteristics and parental behaviour are only two of many factors that interact in complex ways to influence a child’s development. But you wouldn’t know to that to look at current ideas regarding child health, education and social care. In fact, social policy relating to children often reflects the psychodynamic model rather than modern understandings about genetics and child development. I suggest this is largely because of the way we think.

The way we think; heuristics and biases

Human beings are capable of using logical, rational thought but as Herb Simon pointed out, we tend to do so only as a last resort. That’s because the ways of thinking that we’ve evolved as a default tend to be in the form of heuristics (rules of thumb) and biases (inbuilt tendencies) – rough and ready ways of responding to our environment. That’s because rough and ready ways of thinking that are due to the way our brains are wired up and that improve our chances of survival are more likely to get passed on to our offspring. These thinking strategies might maximise our chances of survival, but unfortunately they don’t lend themselves to figuring out solutions to complex problems or planning long-term strategies that will make everybody’s lives better.

For example, human beings have excellent pattern-matching skills. These enable us to recognise a tiger, a rattlesnake or our children, in an instant. They also result in pareidolia – seeing a pattern as significant when it isn’t. We’re good at spotting correlations; helpful when trying to figure out what causes what, but meaning we have a tendency to conflate correlation with causality. We like phenomena to have explanations; that improves our understanding of the world around us, but also results in us inventing concepts like ghosts or evil spirits. We’re also prone to looking for agents -assuming that if something happens someone must have made it happen – not that it could have happened by chance. Heuristics and biases have been investigated in some depth, notably by Daniel Kahnemann, Paul Slovic and Amos Tversky. You can find an extensive list of human biases here, though it’s likely that many of them are actually different facets of a few underlying cognitive phenomena.

Bettelheim’s philosophers

People have long been aware that we don’t get information directly from the world around us, but via the filter of our perceptions. Errors and biases in our perceptions result in theories like the sun moving round the earth or the earth being flat. It’s only when our observations don’t match up with how we think things work that we start using logical rational thought to figure out why. The problem of how to work round unreliable perceptions was what Bettelheim’s favourite philosophers were attempting to tackle. The reason they didn’t opt for the scientific method, which has developed as a way of counteracting unhelpful perceptive errors, was I suspect, because science also gets things wrong. A fundamental point to bear in mind is that science doesn’t deal in certainties, but in degrees of uncertainty. We have enough certainty about some phenomena to land probes on Mars, replace human organs and communicate instantly with someone on the other side of the world. We’re much less certain about the causes of other phenomena – human behaviour, for one. But science has a large toolbox of methods for systematically eliminating less likely explanations for phenomena and investigating explanations that are more likely, so even though our knowledge will always be subject to our perceptions and will always be limited, it is possible to have knowledge that’s reliable enough to be useful.

In my previous post, I highlighted two differences between Kanner and Bettelheim; their use of evidence and their level of relevant expertise. I suggest that these two factors are among the reasons why parents are often (wrongly) blamed for their children’s behaviour.

The use of evidence

Science evaluates evidence by comparing hypotheses about how things happen with observations of what happens. If a theory makes predictions and they turn out to be wrong, we modify the theory – evidence that conflicts with theory can be very informative. Other disciplines handle evidence differently. In disputes, for example, opposing parties marshal evidence that supports their argument, and in courts of law or formal debates an independent party evaluates the evidence from both sides and makes a decision about which is most likely to accurately map onto the real world. The difference between the use of evidence in science and in adversarial situations is that what’s most important to science is what’s actually happening in the real world, not who wins an argument about what’s happening. Obviously scientists do have arguments – and whoever wins influences which theories get investigated and which don’t, but that’s not what science is about.

Many people developing social policy in relation to children are from disciplines that don’t handle evidence in the way science does, so legislation is often derived from policy-based evidence rather than evidence-based policy.

Levels of relevant expertise

Some years ago, I carried out a short research project on men’s and women’s perceptions of the clothing that women wore to work. I employed a technique called card sorts which had previously been used to find out how experts categorised their knowledge. What I found was that men tended to see women’s workwear in either/or terms (e.g. either the woman is married or she isn’t) significantly more frequently than women did. Some people thought this demonstrated that men think in black-and-white terms whereas women think in shades of grey, but other work with card sorts shows that experts in a particular knowledge domain tend to use more complex categorisation than novices. This suggests that women are likely to be experts on the non-verbal signals conveyed by other women’s clothing, but men aren’t. There are implications for theories about how women dress, but that’s another story. Most of my male research participants were professionals, so for the purposes of this post, what my study demonstrated is that you can be an expert in one domain, but a novice in another.

I don’t dispute that GPs, teachers and social workers have expertise; whether they have expertise that enables them figure out who or what is to blame for a child’s abnormal behaviour is another matter. It would be unrealistic to expect everybody to know about everything, but it doesn’t seem unreasonable to expect professionals working with children to have a basic grasp of relevant factors from other domains. For example, I’ve had to explain to a local authority attendance officer why doctors don’t prescribe antibiotics for viral infections. I’ve disagreed with a GP about the ‘gold-standard’ nature of randomised controlled trials and NICE guidelines. And I didn’t even try to explain one of my son’s teachers why spelling isn’t simply reading in reverse, that is, why he might be a good reader but be incapable of spelling words of more than three letters. I’m not alone; recent reports from the UK have drawn attention to the lack of training in child development received by GPs, teachers and social workers.

In the next post, I want to examine three areas where use of evidence and levels of expertise have had a significant impact on social policy development and on the experience of children showing atypical behaviours; attachment theory, fabricated and induced illness and cyclical models of socio-economic deprivation.

Further reading

Kennedy, I (2010). Getting it right for children and young people: Overcoming cultural barriers in the NHS so as to meet their needs. HMSO.

Munro, E (2011). The Munro Review of Child Protection. Final Report: A Child-Centred System. HMSO.

Rugg, G. & McGeorge, P. (2005). The sorting techniques: a tutorial paper on card sorts, picture sorts and item sorts. Expert Systems,22, 94-107.

Teather, S. (2011). Support and Aspiration: A new approach to special educational needs and disability – a consultation. HMSO.

Photograph of Freud by Max Halberstadt, 1921. Image from the Google-hosted LIFE Photo Archive where it is available under the filename e45a47b1b422cca3.

refrigerator mothers

You could be forgiven for assuming that the ‘refrigerator mothers’ theory for the cause of autism has been consigned to the wastebasket of history. That might be true for children with a formal diagnosis of autistic disorder, but parents are still often under suspicion if their children have autistic characteristics but no diagnosis, or indeed any unusual behavioural characteristics but no diagnosis. Bruno Bettelheim is often credited with inventing the term ‘refrigerator mothers’, but Leo Kanner appears to have come up with the refrigerator analogy first.

Leo Kanner

Leo Kanner

In the comment section at the end of his 1943 paper, Kanner weighs up the evidence for the possible causes of autistic behaviour. The children have schizophrenic characteristics, but their condition differs from schizophrenia because it’s been present from birth – suggesting a biological origin. On the other hand “in the whole group, there are very few really warmhearted fathers and mothers” (p. 250), suggesting that development could have been disturbed by parental behaviour. In the end, Kanner concludes “The children’s aloneness from the beginning of life makes it difficult to attribute the whole picture exclusively to the type of the early parental relations with our patients. We must, then assume that these children have come into the world with innate inability to form the usual, biologically provided affective contact with people, just as other children come into the world with innate physical or intellectual handcaps [sic]” (p. 250).

But Kanner later changes his mind. In 1949 he describes his patients as in refrigerators which did not defrost.* In his 1956 paper with Leon Eisenberg he contrasts the low incidence of psychosis and neurosis in the children’s relatives (a sample of around 1000) with the much higher incidence in families of children with schizophrenia and concludes “Thus, if one limits his search for genetic factors to overt psychotic and neurotic episodes in family members, the results would appear to be negative” (p.8). After some discussion of parental characteristics, he decides; “The emotional frigidity in the typical autistic family suggests a dynamic experiential factor in the genesis of the disorder in the child” (p.8) and “These children were, in general, conceived less out of a positive desire than out an acceptance of childbearing as part of the marital contract” (p.10). But less than a decade later, when Bernard Rimland, in his book Infantile Autism: The Syndrome and Its Implications for a Neural Theory of Behaviour suggested that autism might have its origins in the brainstem, Kanner wrote the foreword. And in 1969, Kanner told the first annual meeting of the then National Society for Autistic children “I herewith especially acquit you people as parents” (Feinstein, 2010).

The discussion in the 1956 paper sheds light on what initially appears to be wavering on Kanner’s part about the cause of autism – now he’s blaming biology, now he’s blaming the parents. Kanner wasn’t so much undecided as aware that both factors could be involved. He goes into some detail about the interaction of biological and environmental factors in producing autistic characteristics and describes early infantile autism as ‘a total psychobiological disorder’ – in other words, it isn’t a case of its cause being either genetic or parental. As Michael Rutter observed; “What we have to differentiate is evidence of a broader phenotype. Kanner switched back and forward, which is a mark of his integrity” (Feinstein 2010).

Bruno Bettelheim

Bruno Bettelheim

For Bruno Bettelheim there was no uncertainty about the cause of autism. At first glance, Kanner and Bettelheim appear to have a good deal in common. They were both born into Jewish families in central Europe around the beginning of the 20th century. Both had their studies interrupted; Kanner by military service, Bettelheim by the death of his father. Both fled to the USA as ethnic refugees, both married and raised families there, and both became successful, respected figures in the field of child development. There the resemblance ends.

Bettelheim was born into a well-to-do Viennese family in 1903. As a teenager, he was fascinated by psychoanalysis and read all he could about it. He enrolled as a student of philosophy and history of art at the University of Vienna, but postponed his studies when his father died from syphilis and he had to take over the family lumber business. In 1930 Bruno married his first wife, Gina, who worked at a Montessori nursery. The couple took in a young American child, Patsy, whose mother had sent her to Vienna for therapy with Editha Sterba, a member of the Vienna Psychoanalytic Institute. Bruno was in therapy with Editha’s husband Richard for a while, and his connections with Patsy, the nursery and the Sterbas were to prove a turning point in his career.

Eventually, he was able to resume his studies and was awarded a doctorate in February 1938. Within a month, German troops had entered Austria and Gina had left for the USA with Patsy. Bruno remained in Vienna with his mother and sister. In June, he was arrested, jailed and then taken to Dachau. In September he was moved to Buchenwald and released the following April in an amnesty to mark Hitler’s 50th birthday. Patsy’s mother, Agnes, had managed to arrange a visa for him, and Bruno was reunited with Gina in the USA in May 1939. By then it was obvious that their marriage was over – both had had affairs – and Bruno settled down with Trude, a former girlfriend. His experience with psychoanalysis and child development also got him a job in the education department at the University of Chicago, which led to his appointment as director of the university’s Orthogenic School in 1944, where he was to remain until the early 1970s.

Most of these biographical details are from Richard Pollak’s fascinating biography of Bettelheim The Creation of Dr B. Pollak is aware that his account might be seen as biased. His younger brother, Stephen, had attended the Orthogenic School until his death in an accident whilst on holiday. Bettelheim’s disdain for the boys’ parents and his claim that Stephen had committed suicide despite Richard witnessing Stephen’s fall from a hayloft, and Bettelheim’s suicide in 1990, were what prompted Pollak to research Bettelheim’s life. Although Bettelheim probably had the children’s best interests at heart and certainly changed the Orthogenic School for the better, reactions to him were mixed to say the least. Comments from school staff, parents, children and his students are peppered with reports of admiration, intimidation and humiliation. There’s little doubt that he beat the children and there are some stories of sexual contact, although these accounts, if true, need to be set in context; corporal punishment was common at the time and the psychoanalytic theory embraced by Bettelheim saw sexual expression as natural. Some people hated him, but others felt that Bettelheim’s methods, even if frowned upon, were well-intentioned.

Refrigerator mothers

Probably more widespread harm was caused by Bettelheim’s view of parents, especially mothers. Bettelheim disapproved of children at his school going home for visits and viewed mothers as cold, uncaring and responsible for their children’s behavioural problems. Bettelheim set out his ideas in a series of books including The Empty Fortress: Infantile Autism and the Birth of the Self. Despite the popularity and influence of this book, it’s not clear how much experience of autistic children Bettelheim actually had. He claimed that two autistic children had lived at his home, although Patsy appears to have been the only one, and she wasn’t diagnosed as autistic. Visitors to the Orthogenic School commented on the fact that the children appeared to be normal, if troubled, kids. Bettelheim admitted only children with no physical or intellectual impairment, thus ruling out more severely autistic children. And the success of his techniques was called into question too. In the 1980s a study showed that during Bettelheim’s period as director Orthogenic School, of 220 children entering the school, only 13 were admitted with a diagnosis of autism (Bettelheim diagnosed many children himself) and not all the children had made the progress he claimed.

Aside from contrasts in their life experience, with regard to their contribution to autism research I want to highlight two key differences between Kanner and Bettelheim; the way they used evidence and their level of relevant expertise.

Use of evidence

Kanner had a medical background, derived testable hypotheses from the best theory available at the time, and wasn’t afraid to change his conclusions if the evidence dictated. Bettelheim had trained in philosophy and appears to have made up his mind in advance about the cause of autism and then selected evidence to support his theory. Pollak refers to an essay Bettelheim wrote about the philosophers who shaped his thinking as a student. Significantly, the philosophers – Lessing, Lange and Vaihinger – all saw historical truth as a construct of the mind. Vaihinger argued in his book The Philosophy of “As If” that even though fictions should not be mistaken for true propositions, they can work As If true (Pollak, 1997; p.15). Bettelheim seems to have put Vaihinger’s ideas into practice; in a cv compiled in 1942 he exaggerated his credentials and frequently reported events in a way which conflicted with the recollection of other witnesses.

Level of relevant expertise

Kanner was aware that his theories about the cause of autistic characteristics were limited by the biological knowledge available at the time. Nonetheless, he clearly understood the complexity of child development and was careful to rule out a number of possible causes for autism before arriving at his conclusions. Without doubt, Bettelheim was also knowledgeable, about psychoanalysis and theories of child development that is; the reference section in The Empty Fortress is extensive. But he appears to have had little knowledge about biology and his explanations for the children’s behaviour are in terms of psychoanalytic concepts only. Indeed, he was actively opposed to biological theories for the causes of autism, attacking Kanner and Rimland in The Empty Fortress and telling Thomas Kemper that his brain studies must indicate a different kind of autism (Feinstein, 2010).

Bettelheim’s influence

What puzzles me is how Bettelheim’s book could become so influential amongst professionals with medical training, long after research into genetics and brain function had shown that psychoanalytic and psychodynamic theories of child development were lacking. Bettelheim was preoccupied by psychoanalytic symbolism. He saw the children’s interest in balls, balloons, light fittings and automobile headlamps as symbolic of their relationship with the breast. Their words had deep symbolic meaning – ‘breakfast’ meant ‘break breast’, ‘Connecticut’ meant ‘connect-I-cut’ and even an interest in the weather on the part of a non-verbal child symbolized her fear that she might be devoured (‘weather’ meant ‘we/eat/her’). This should have been enough to suggest that his theory might not have a solid grounding. Bettelheim’s use of symbolism extended to his lectures, resulting in the (in)famous knitting/masturbation story. Bettelheim is reported to have said to a female student, knitting during one of his lectures; “Don’t you realize your knitting is nothing but a sublimated form of masturbation? You’re sitting in front of the entire class masturbating.” The student is alleged to have replied; “Dr Bettelheim, when I knit, I knit! And when I masturbate, I masturbate!”

Despite the lack of evidence for his theories they were very influential. The Empty Fortress was the first book on autism translated into Spanish, Bettelheim’s lectures were shown on French national tv, in the 1980s most of the books on autism in Danish libraries were by Bettelheim, and it wasn’t until 1998 that the International Association for Child and Adolescent Psychiatry and Allied Professions decided that “parents have absolutely no responsibility for their children’s autism” (Feinstein 2010). As Judy Barron, the parent of an autistic child, observed when she read The Empty Fortress, “I wasn’t a scientific reader and I certainly wasn’t a researcher; I was a twenty-four-year-old mother; but I just didn’t see any evidence to support his pronouncements” (Pollak, 1997, p. 275).

The use of evidence and levels of expertise; two factors that I plan to explore further in the next post.

References
Bettelheim, B. (1967). The Empty Fortress: Infantile Autism and the Birth of the Self. The Free Press.
Eisenberg, L. & Kanner, L. (1958). Early infantile autism 1943-1955. In C. F. Reed, I. E. Alexander and S. S. Tomkins (eds.) Psychopathology: A Source Book, Harvard University Press.
Feinstein, A (2010). A History of Autism. Wiley Blackwell.
Kanner, L. (1943). Autistic disturbances of affective contact. Nervous Child, 2, 217-250.
*Kanner L (1949). Problems of nosology and psychodynamics in early childhood autism. American Journal of Orthopsychiatry, 19, 416–26.
Pollak, Richard (1997). The Creation of Dr B, Simon & Schuster

*Paper behind paywall – the citation is from various sources.

image of Bettelheim: Ottofroehlich under Creative Commons licence

that way confusion lies

Whichever way you look at it and whatever you think causes it, autism is a complex phenomenon. So it isn’t surprising that different researchers have different conceptual models of how autistic characteristics and their causes are related. Different conceptual models might confuse the public, but researchers are generally well aware of what other researchers think and why. But confusion can arise when conceptual models appear similar but are subtly different.

Here’s Mary Coleman in an interview with Adam Feinstein: “I came to realize that autism is like mental retardation – it’s a final common pathway in the brain affected by many different underlying causes, many different disease entities.” (p.147).

Feinstein says Coleman is ‘convinced that autism will eventually be found to consist of dozens – possibly hundreds – of different subtypes, each the result of a specific medical condition. She told me: “I’m not talking about co-morbidity. I’m talking about the basic disease which causes the autistic symptoms.”’ (p.194)

Now Isabelle Rapin, also interviewed by Feinstein:

“Autism is a behavioural, not a medical diagnosis…I agree entirely with the concept of autism as a disorder of the developing brain. What I emphasize is that autism is defined behaviourally, in the same sense that dementia is behaviourally defined…but is, of course, medically caused. There… is no single cause, but many. I disagree with the idea that autism is a ‘disease’ – in the sense that it has one defined cause. I have always believed it reflects dysfunction of particular circuitry in the brain, whatever the biological cause of the dysfunction.” (p 194)

Thomas Kemper, who with Margaret Bauman carried out some pioneering studies of brain development in autism, says;

“I still think there’s a unifying feature or group of features about children with autism: the way they use language, the way they interact socially, their play skills. There is a key group of features. I accept that it is a spectrum. But we should still be hunting for what is similar, the unifying characteristic. Even if Mary Coleman refers to 70 different kinds of autism, she’s still calling it autism. There may be different ways of getting there, but I’m not ready to give up on the hunt for some core, unifying feature of the brains of children with autism.” (p. 210)

fan-in/fan-out model

It seems to me that each of the above researchers subscribes to essentially the same ‘fan-in/fan-out’ model; that many different biological causes can produce impairments in a final common pathway that varies widely in its manifestations. Each has a different but important emphasis. Coleman emphasises the differences between the causal disease entities; Rapin the distinction between behavioural characteristics and their biological causes; and Kemper the similarities in behaviour between children.

The term ‘autism’ is a construct that refers to a triad of types of symptom. Whether that maps on to a single ‘thing’ in the real word remains to be seen, but it’s not safe to assume that it does. Jon Brock has addressed this point elegantly in his blog here.

What I find intriguing is that each of these researchers subscribes to the idea of a ‘final common pathway’, ‘dysfunction of a particular circuitry in the brain’, ‘some core, unifying feature of the brains of children with autism’. What, if anything, all people diagnosed with autism have in common is a moot point. The issue of what it is they actually have in common is dealt with explicitly by John Morton and Uta Frith in their work on causal modelling. I plan to examine this in more detail in a later post, but for the moment I’ll concentrate on the confusion in conceptual models.

That way confusion lies

It’s bad enough having to take into account subtle differences in the same conceptual model. It gets even more confusing when the same terminology has different meanings. I’ve noted some terms that are each used in different ways in the autism literature.

1. autism

can refer to either;

autistic characteristics – impairments in social interaction, communication and flexible behaviour

or

a medical condition assumed to cause autistic characteristics.

Using the same label for both is like diagnosing patients with a sore throat, rash and fever as having ‘sore-throat-rash-and-fever disorder’. It’s an accurate and valid label – all patients with those symptoms definitely have them – but using that term for both cause and effect wouldn’t make it clear whether you were talking about the symptoms or what causes them. It also implies that all patients have the same cause for their symptoms, when we know that there are many different causes for sore throats, rashes and fevers. In the case of autism the jury is still out on the links between cause and effect, so it’s not safe to assume, implicitly or explicitly, that there is only one underlying cause.

2. disease, illness, disorder, condition

are often used interchangeably.

As far as I can ascertain, the usual technical meanings of these terms are as follows;

disease – an infection that impairs normal function

illness – the patient feels unwell. Patients can have impaired function but not be ill, or be ill but not have impaired function.

disorder – a disruption in normal functioning. Normality is an interesting concept and one I plan to discuss in a later post.

condition – the patient’s state from a medical perspective. The patient doesn’t necessarily have a disease, illness or disorder.

The term ‘autistic spectrum condition’ (ASC) is sometimes used in place of ‘autistic spectrum disorder’ (ASD) because ‘condition’ doesn’t imply there is anything ‘abnormal’ about the person.

3. autism is a disorder with a heterogeneous aetiology

can mean either;

different things cause autistic characteristics in different people

or

different things cause autistic characteristics in an individual.

This phrase is often found in the introductory sections of research papers, but it’s not always clear what it means. One theory for the origins of autism is that autistic characteristics are triggered by environmental factors if a relevant genetic predisposition is present. It’s possible that several genes might be involved. So the causes of autism within an individual can be heterogeneous. Researchers using the phrase might be saying that different people probably have different causes for their autistic characteristics or might be assuming that every person diagnosed with autism has the same heterogeneous aetiology for their symptoms.

Enough of conceptual models for the moment. Bearing in mind the ambiguities in conceptual models and terminology, I next want to turn my attention to theories about the causes of autism.

Reference

Feinstein, A (2010). A History of Autism. Wiley Blackwell.

dual diagnosis: autism and other medical conditions

Many theories have been advanced for the causes of autism. Before looking at them in more detail, I want to examine a broader issue; the association between known medical disorders and autistic characteristics.

In their book The biology of the autistic syndromes, Christopher Gillberg and Mary Coleman devote an entire section (six chapters) to medical conditions associated with a formal diagnosis of autism. (My copy is of the 2nd edition published in 1992; the 1st edition came out in 1985, the 3rd in 2000 and the 4th, entitled The Autisms was published in 2012.) The authors don’t speculate on how the medical conditions they list might be related to autism, but it’s clear from this and later works that they are of the view that there are ‘autisms’, rather than a single disorder with different manifestations. From the preface of The Autisms;

“Although Kanner, who first accurately described autism in 1943, likely assumed it was a single disease entity…over time it became clear that this was not so, as multiple studies… were published. Instead autism was found to be a specific set of symptoms found in a conglomeration of different diseases some of which overlapped with the intellectual disability/mental retardation syndromes.” (p.xi)

I think Gillberg and Coleman are suggesting that autistic characteristics (which by definition form a syndrome) arise as a consequence of a range of medical conditions, implying that the causes for autistic characteristics are probably different in different patients – hence the authors referring to ‘autisms’ in the plural. In 1974 Coleman had studied a group of 78 autistic children. In an interview with Adam Feinstein for A History of Autism, she says;

“As a result of this [1974] study, I came to realize that autism is like mental retardation – it’s a final common pathway in the brain affected by many different underlying causes, many different disease entities.” (p.147)

I’ve summarised below the ‘disease entities’ listed by Gillberg and Coleman as associated with autism. (The list is from the 1992 edition; later research has expanded on it.)

Gillberg & Coleman's disease entities associated with autism

Gillberg and Coleman are by no means the only authors to identify an association between autistic characteristics and other medical disorders. Here are the ‘organic conditions’ reported by Wing and Gould (1979) in children who met Kanner’s criteria in their Camberwell study:

maternal rubella
encephalitis/encephalopathy
infantile spasms
severe perinatal complications
multiple congenital abnormalities
epilepsy
unconfirmed viral illness under 1 year
gastroenteritis under 1 year
unconfirmed head injury under 1 year
operation for cleft palate under 1 year.

Michael Rutter and Eric Schopler (1988) comment:

“The last issue concerns the question of etiological heterogeneity within the field of autism syndromes. We have already noted that there is undoubted heterogeneity. The very fact that the clinical picture of autism can arise from diseases as diverse as congenital rubella, tuberous sclerosis, encephalopathy, infantile spasms with hypsarrhythmia, cerebral lipoidosis and neurofibromatosis makes that clear.” [references omitted](p.28)

Patterns of association

Because autistic characteristics involve high-level processes, the relationships between autistic disorder and other medical disorders are likely to be complex and varied. However, the relationships between autistic characteristics, somatic symptoms and underlying causes will fall into one of four basic patterns, as shown below.

relationship between autistic characteristics, somatic symptoms and underlying causes

The section on other medical conditions in Gillberg and Coleman’s book was originally entitled “Disease entities that have a subgroup of patients with autistic symptoms” – in other words, not all children diagnosed with a particular disease entity were autistic, suggesting that for each disease entity:

either

the sub-group of children with autistic symptoms had a distinct second disorder (an autistic syndrome)

or

the sub-group of children with autistic symptoms had a predisposition to develop those symptoms and that they have been triggered by the disease entity.

Patterns of association and diagnosis

Depending on how strong the association is between autistic characteristics and a particular medical disorder, diagnosis is likely to proceed as follows;

A. If a medical disorder (e.g. disorder A) is frequently associated with autistic symptoms, it’s likely that the medical disorder will be assumed to account for the autistic symptoms and the child will get a single diagnosis of disorder A.

B. If a medical disorder (e.g. disorder B) is only occasionally associated with autistic symptoms, it’s likely that the medical disorder will be assumed not to account for the autistic symptoms and the child will get a dual diagnosis of disorder B and autistic disorder.

C. If the child has somatic symptoms that don’t fit the criteria for any known medical disorder, unless severe, those symptoms are likely to be overlooked and the child will get a diagnosis relating only to their behaviour – autistic disorder.

Each of these options is problematic if the cause of the child’s symptoms is to be identified, because in each group – A, B or C – the autistic characteristics might or might not be caused by whatever causes the somatic symptoms. The only ways to find out would be either to investigate all the symptoms shown by each individual, or to look at the differences between individuals who are autistic and those who aren’t, in respect of each of the other medical disorders.

What isn’t helpful is to assume that everybody’s autism has the same cause.

References
Coleman, M & Gillberg, C. (2012) The Autisms (4th edn). Oxford University Press.
Feinstein, A. (2010). A History of Autism. Wiley-Blackwell.
Gillberg, C. & Coleman, M. (1992) The Biology of the Autistic Syndromes (2nd edition). Mac Keith Press.
Rutter, M. & Schopler, E. (1988). Concepts and diagnostic issues in E. Schopler & G.B. Mesibov (eds.) Diagnosis and assessment in autism. Springer.
Wing, L. & Gould, J. (1979). Severe impairments of social interaction and associated abnormalities in children: Epidemiology and classification, Journal of Autism and Childhood Schizophrenia, 9, 11-29.

autism and its co-morbidities

In the previous post I looked at the different levels of complexity involved in classifying things, including behaviour. I want to apply this idea to the behaviours involved in autism.

Classifying autistic behaviours

Autism is defined in terms of impairments in three types of behaviour; social interaction, communication and flexibility (people diagnosed with autism show ‘restricted, repetitive and stereotyped patterns of behaviour’). The definition is at a high level of complexity – each type of behaviour involved is the equivalent of a class in the Linnaean system. Many behaviours come under the heading ‘communication’, an even larger number under ‘social interaction’ and ‘restricted, repetitive and stereotyped patterns of behaviour’ could refer to almost anything. It’s true that the DSM narrows things down a bit by listing certain aspects of impairments in these behavioural classes, but there’s still a lot of scope for variation between individuals. Even the specific behaviours mentioned, such as impaired eye-to-eye gaze, delayed speech or persistent preoccupation with parts of objects could have different causes in different people. Jon Brock has calculated the number of possible combinations of the 12 types of behaviour listed in the DSM criteria here; the figure would be much higher if individual variations in these were taken into account.

I’ve illustrated the complexity of the behavioural classes by mapping out the relationship between a low-level behaviour that would qualify as an impairment in the class of behaviours that we call ‘communication’. I’ve chosen one of the behaviours noted by Kanner – ‘pronominal reversal’ (reversal of pronouns). Pronoun errors are common in young children. Very young children often don’t use them at all – ‘Harry do it’ – or sometimes use only one as a default – everyone is referred to as ‘he’. ‘Pronoun error’ is ambiguous because it could mean several different things, but it’s very clear what’s meant by pronoun reversal. Ironically, despite listing ‘pronomial reversal’ as one of the essential common characteristics of his syndrome, in five of the six cases where Kanner records pronoun errors, the children don’t consistently reverse pronouns. The reversals appear to be due to the use of echolalia e.g. ‘you want candy’ instead of ‘I want candy’ or ‘want me to draw a spider’ for ‘I want you to draw a spider’. Jon Brock expands on this point in his blog.)

classification of pronoun reversal

My classification of this behaviour is not exhaustive or authoritative. Nor does it show all the linkages between levels; it simply illustrates the levels of complexity between communication in general and pronoun reversal in particular. Note also that the diagram illustrates the way pronoun reversal could be classified – it doesn’t reflect the way children actually develop language. As I pointed out in the previous post, each level of complexity is equally valid; pronoun reversal could accurately be described as an impairment of pronoun use, or of pragmatics, syntax, language, verbal communication or communication in general. But even if a description at each level of complexity is equally valid, it doesn’t mean each level of complexity is equally useful for all purposes.

Here’s the same diagram again, but this time showing the impairments in communication a doctor diagnosing autism would be looking for. One feature would need to be observed.

diagnostic criteria for impairments in communication

Levels of complexity and autism

Although the diagnostic criteria listed in the DSM appear at first glance to be precise, when mapped onto a diagrammatic representation of the set of behaviours involved in communication, it’s clear that the criteria are at quite a high level of complexity, so the impairments might manifest themselves in different ways and there might be more than one possible cause for each impairment.

A key problem with the definition of autism, as I see it, is that it is framed at too high a level of complexity to be useful in determining what’s causing an individual’s developmental impairments. There is no doubt that a child diagnosed with autistic disorder has impairments in social interaction, communication and flexible behaviour, because that’s how autistic disorder is defined. But because those classes of behaviour encompass so many low-level behaviours, people with totally different impairments to each other can all end up with a diagnosis of autistic disorder. And the atypicalities of people with autism aren’t confined to behaviours; some somatic (bodily) symptoms frequently occur alongside autism. They are referred to as co-morbidities.

Autism and its co-morbidities

When diagnosing a somatic disorder, doctors tend to look at a patient’s low-level symptoms – the type of breathing difficulty, cough, pain or rash. Many diagnostic tests are at an even lower level – the shape of cells or presence of specific molecules. The reason for this is that many somatic disorders have very similar symptoms, so it’s important to identify exactly what symptoms each patient has. In the case of autism the diagnostic process is different. A doctor might first rule out any medical conditions known to cause autistic characteristics (e.g. Fragile X) and might note all the patient’s symptoms, but what’s seen as important is not all the patient’s symptoms, but whether or not the patient’s behaviour fits the criteria for autistic disorder.

Because autistic disorder is defined in terms of behaviour, and because autistic behaviours are often the most obvious of a child’s symptoms, autistic disorder frequently becomes the primary diagnosis and any minor somatic symptoms associated with autism are relegated to the category of ‘co-morbidities’. (Also see Paul Whiteley’s blog on this topic). So sensory atypicalities, epilepsy, sleep disorders, hypermobile joints, growth abnormalities, dietary intolerances, digestive problems and allergies, unless serious, are seen as features that might or might not be caused by whatever causes the autistic characteristics. But because these somatic features aren’t typical of everyone diagnosed with autism, they don’t qualify as part of the autistic syndrome.

That’s fair enough if what you want to do is refine the definition of autism. But if you want to find out what might be causing an individual child’s developmental abnormalities, you need to look at all the child’s symptoms, autism being only one of them.

Harry and Sam

To illustrate this point, I want to look at the symptoms shown by Harry and Sam. Harry’s intelligent and has an excellent grasp of language and abstract ideas. He loves maths and science and has a photographic memory. But he can’t discriminate between some speech sounds or between some letters. He can’t keep track of what people are saying in noisy environments or unless they speak slowly and clearly, and his own speech is hesitant and mumbled. High-pitched sounds, such as children screaming, hurt his ears. He loses track of things that move quickly, like balls or other children, and his motor co-ordination is poor. If he puts his head back he feels sick and dizzy and sometimes blacks out. He finds light touch unbearably tickly but has a high pain threshold. He has a persistent dry cough, can fold his legs behind his head and often gets pain in his legs and chest when walking. He’s a fussy eater, is extremely skinny and his chest is sunken. Certain foods give him diarrhoea, and a casein-free diet has improved his energy levels considerably. Not surprisingly, Harry struggles with conversation, avoids social interaction if he can, and, because he finds almost everything he tries to do difficult, sticks to things he can do best and with least discomfort, like reading, lego, computer games or watching tv. But Harry’s diagnosis is ‘autistic disorder’; his specific problems with receptive and expressive speech, visual discrimination and tracking, auditory hyperacusis, motor and vestibular function, pain, joint mobility, growth and dietary issues just don’t come into the picture. There’s a group of children like Harry with almost identical symptoms at the ‘high-functioning’ end of the autistic spectrum. Their symptoms aren’t just behavioural, but involve sensory processing, motor function, skeletal development and digestion as well. Because the children have symptoms that are so similar (unlike the wide variation seen in ‘autistic disorder’) it’s quite possible that this group of children all have the same cause for their symptoms.

There are other groups with distinctive symptoms on the autistic spectrum too, such as ‘low-functioning’ children like Sam. Sam has little speech, intellectual impairment and poor motor control. He’s big for his age, has epilepsy, pica, is doubly incontinent and smears faeces. He often has tantrums, is aggressive to others, beats his head and throws himself against the walls and furniture. Sam also has a diagnosis of autistic disorder. Do Harry and Sam have the same medical condition? Unlikely, I’d say.

Note that I’m not saying the autistic spectrum can be divided into two sub-groups – ‘high-functioning’ and ‘low-functioning’. There are children across the autistic spectrum who have different symptoms to both Harry and Sam. I’ve just described patterns of symptoms that I’m most familiar with. I also want to emphasise that neither group, Harry’s or Sam’s, would form a sub-group of ‘autism’ because autism is only one of their symptoms. They have symptoms other than behavioural ones, but these are currently classified as ‘co-morbidities’ of autism, rather than being seen as symptoms in their own right.

Biological markers for genetic variations

There’s been a great deal of interest in recent years in the genetics of autism. The Autism Genome Project identified a number of genetic ‘rare variants’ associated with autistic disorders. What geneticists are keen to identify are biological markers that indicate the endophenotype that results from a specific genetic variation. A major problem with this approach is that because the diagnostic criteria for autistic disorder lump together everyone who has autism as one of their symptoms, scientists often aren’t looking for the biological markers for genetic variations in a specific individual, but for the biological markers for genetic variations in everybody diagnosed with autism. And only for the markers associated with autism, not with the other symptoms that individuals might have. It’s quite possible that these much sought-after biological markers are actually in plain sight in the form of co-morbidities, but are being ignored because autistic disorder is seen as the primary diagnosis and is framed only in terms of behaviours.

Next, I want to look at some of the possible causes of autism and its co-morbidities.

only connect: how everything is linked to everything else

My teenage son keeps reminding me that everything is subject to the laws of physics. That idea is often disputed, but since there’s general agreement that autistic characteristics are caused by something in the physical world, I want to have a go at explaining how the laws of physics tie together everything in the physical world – including autism. How we believe everything is tied together affects how we categorise or classify things – including autistic behaviour.

The way human knowledge is organised by educational institutions, libraries and encyclopedias, you could be forgiven for thinking that the laws of physics might apply to the behaviour of solids, liquids and gases, but aren’t relevant to things like art, literature or human emotion. People don’t behave like subatomic particles, so thinking of them in terms of subatomic particles is often dismissed as reductionist, because it ignores the complexity and subtlety of thought and behaviour – there must be something qualitatively different about living organisms, especially humans beings.

Levels of complexity

The reason my son says everything is subject to the laws of physics is because subatomic particles (I’ll stick with ‘particles’ for simplicity) behave in consistent ways that we describe as ‘laws’. Everything in the physical world consists of subatomic particles in different configurations of varying complexity. Subatomic particles interact to form atoms. Different configurations result in different kinds of atoms – chemical elements. Atoms form molecules, ranging from simple chemical compounds to highly complex organic molecules. Organic molecules make up living organisms, and some of those organisms can paint, write and express their emotions.

Each different configuration of particles opens up some possibilities for change but closes down others. If a set of particles has formed an atom of gold, for example, its configuration is very stable, so there’s not much likelihood of it changing. That’s why we can dig gold out of the ground. An atom of sodium on the other hand, is in an unstable configuration, so there’s a lot of potential for change. Sodium readily combines with other elements to form salts – sodium chloride, carbonate and bicarbonate etc. Which is why don’t find chunks of sodium lying around underground – any pure sodium would have combined with other elements.

molecular structure of sodium chloride

Opportunities that a specific configuration opens up are called affordances, and opportunities that those configurations close down are called constraints. At different levels of complexity, different affordances and constraints come into play. Subatomic particles can form hydrogen, release vast amounts of energy and hold the universe together. Sodium atoms can’t do those things, but they can form chemical compounds, which single subatomic particles can’t. Human beings can’t transport oxygen between cells (not without a lot of equipment anyway); haemoglobin can, but it can’t paint a picture or write a book.

Because everything in the physical world is connected in this way, anything – from a physical object to the most sophisticated human activity – can be construed any level of complexity you care to choose. A bit like zooming up and down on Google Earth. Writing a novel, for example, can be seen at the level of the author’s ideas, emotions and experiences. Or at the level of the physical activities involved; muscle movements, using a keyboard or making notes. If you felt so inclined you could even analyse novel-writing in terms of the rearrangement of subatomic particles. An important point about looking at a phenomenon at different levels of complexity is that each level of complexity is equally valid. Novel-writing is about the author’s ideas, emotions and experiences. At the same time, it’s also about muscle movement and using a keyboard, and about the configuration of subatomic particles. But not all levels of complexity are equally useful for all purposes.

The way we organize knowledge

Levels of complexity have an important role in the way we organize our knowledge. Organizing knowledge is important because it reduces the amount of effort we have to put into thinking – our cognitive load. Instead of having to think about thousands of individual examples, we group things into categories and label the categories; ‘tigers’, ‘furniture’, ‘criminals’, ‘unacceptable behaviour’. For some entities we use informal ‘folk’ classifications that are loosely structured and often involve differences of opinion, such as the different types of criminal behaviour or which activities are acceptable and which are not. Sometimes there is general agreement on how to classify things and we develop formal, consistent classification systems – like the periodic table or the Linnaean taxonomy of biological organisms.

Carl Linnaeus’ classification of biological organisms has been in use for nearly 300 years. It’s stood the test of time because Linnaeus based it on the morphology (form) of organisms, rather than on their colour, habitat or uses, criteria that some previous classification systems had used. The form of organisms is very stable compared to their colour, habitat or what uses people make of them, which makes Linnaeus’ system highly reliable. His system has several levels of complexity called ‘ranks’, such as species, genus, family and class. The lowest rank is the species – organisms that are essentially identical in form. The higher the rank the more organisms are included in it. A genus might include only two species, whereas a class (e.g. mammals) might include thousands.

Levels of complexity are also referred to as levels of abstraction. That’s because each level has key defining features that can be abstracted out. The class ‘mammals’ for example, is defined by features such as the ability to regulate body temperature internally, having hair, mammary glands and a distinctive inner ear structure. On the face of it, abstracting key features appears to simplify matters because it tells you only about what all the members of the class have in common. But the class Mammalia includes thousands of species that possess many variations of the key features and lots of other features that aren’t common to all mammals, so although the shared features might be simple, a class could encompass a huge number of individual differences. A vet, called to treat an exotic species of squirrel, would find it useful to know that a squirrel is a mammal, but information about the squirrel’s species and about the individual squirrel’s medical history would be even more helpful.

Classifying behaviour

What has all this got to do with autism? Classification is important to autism because anything can be classified; chemical elements, biological organisms or human behaviour. Autism is defined in terms of behaviour – or more accurately, behavioural impairments. As far as I’m aware, although some people have devised classifications of behaviour for specific purposes, no one has produced the equivalent of a behavioural periodic table or Linnaean taxonomy. That’s because chemical elements and biological organisms are relatively stable things but behaviour isn’t. Although we can identify common behavioural patterns (eating, walking) and behavioural traits (neuroticism, aggression), behaviour tends to be very variable. Because of its variability there’s often disagreement about what constitutes a particular behaviour, so devising a formal, universally accepted classification system is problematic.

But behaviours can be classified, and at different levels of complexity, too. Take ‘feeding’ for example. Feeding is a label we attach to a set of behaviours that includes suckling, eating, drinking and foraging. ‘Eating’ can be broken down into more simple, lower level behaviours; opening the mouth, putting in food, masticating and swallowing. Each of these behaviours could be broken down even further if necessary, into the way specific muscles function, for example, or right down to the level of molecules or the ubiquitous subatomic particles. Which level of complexity we use to describe ‘eating’ will depend on why we are referring to that particular behaviour; a restaurant manager and physiotherapist will be interested in different levels.

The behaviours that are impaired in autistic disorder are social interaction, communication and behavioural flexibility – people diagnosed with autism show ‘restricted, repetitive and stereotyped patterns of behavior interests and activities’. There’s no doubt that those are features common to a large group of people. But each of those areas is a very large class of behaviours – it’s at a high level of complexity. This means that although two people might have totally different behavioural impairments, they can both qualify for a diagnosis of autism. It’s those individual differences I want to look at next.

gold image: Rob Lavinsky, iRocks.com – CC-BY-SA-3.0

autism: syndrome under suspicion

This is the last post about syndromes. Promise. The reason I keep referring to syndromes is this: In recent years ‘autism’ as a label for a set of symptoms has become confused with ‘autism’ as a label for an underlying medical condition assumed to cause those symptoms. This confusion, in my view, has placed a major obstacle in the path of autism research. In this post, I round up what we know about syndromes, imagine being a doctor in the heyday of syndromes a century ago, and then expand on the two different uses of the word ‘autism’.

What we know about syndromes

Emil Kraepelin classified mental disorders in terms of syndromes. This approach makes perfect sense because:

1. A syndrome consists of signs and symptoms that tend to co-occur. (Technically, a sign is something someone else can detect, and a symptom is what the patient reports, but for the sake of brevity, I’ll refer to both as symptoms).

2. Symptoms that tend to co-occur are more likely to be causally linked than symptoms that don’t, so identifying a syndrome can provide an important clue as to what’s causing the symptoms.

BUT

3. The fact that symptoms tend to co-occur doesn’t guarantee that they are causally linked. Correlation doesn’t indicate causality.

4. The symptoms could all share the same cause; some symptoms could be causally linked, but not others; the causal links could be complex; or the symptoms could co-occur by chance.

Dr Smith’s syndrome

To illustrate the advantages and disadvantages of classifying symptoms in terms of syndromes, I’m going to imagine a doctor – Dr Smith – who has a successful medical practice in a large country town and tries to keep up to date with advances in medicine. It’s 1912. During the last month, Dr Smith has seen over a hundred patients with the same symptoms; breathing difficulties, a persistent cough and chest pain. His experience tells him that the sudden onset of such symptoms in a large number of patients living in the same geographical area indicates that the cause is likely to be a contagious disease. The course of the illness in the first few cases allows Dr Smith to reassure his patients that if they rest, keep warm and take plenty of nourishing broth they will probably be as right as rain within a week or two.

Like any diligent doctor, Dr Smith keeps notes on his patients’ progress. After the first half-dozen cases, he stops listing all the symptoms and writes ‘respiratory disorder’ as shorthand for breathing difficulties, cough and chest pain. If patients have other symptoms besides the three main ones, he makes a note of that. If patients don’t have all the core symptoms, he notes that too. The core symptoms Dr Smith has observed are so common that he wouldn’t dream of claiming that he’d found a new syndrome, but his ‘respiratory disorder’ is a syndrome nonetheless, and he would refer to it as such. It consists of core symptoms that tend to co-occur, but the severity of the symptoms varies between patients and some patients have additional symptoms.

Dr Smith is aware that although most patients with the syndrome ‘respiratory disorder’ will recover quickly because their symptoms are caused by a mild infection, the core symptoms of ‘respiratory disorder’ can also be caused by more serious illnesses such as pneumonia, tuberculosis or an allergic reaction to dust, so he keeps a careful eye on how his patients’ symptoms change. His patients have every confidence in him – but what does Dr Smith’s syndrome have to do with autism?

Autism as a descriptive term

The syndrome labelled ‘autistic disorder’ in DSM-IV has three core symptoms – impairments in social interaction and communication, together with restricted, repetitive behaviours. As far as the process of diagnosis is concerned, ‘autistic disorder’ is an exact parallel to Dr Smith’s ‘respiratory disorder’ – except of course that the causes, core symptoms and outcomes are different. Dr Smith used the term ‘respiratory disorder’ to describe the core symptoms of a syndrome, but he knew that there could be several causes for those symptoms. For many years, ‘autism’ and ‘autistic’ were also used descriptively. Bleuler, Kanner, Asperger, Eisenberg, Wing, Gould and a host of other medical practitioners between 1911 and 1979 used ‘autism’ to describe symptoms. DSM-IV also uses ‘autistic’ descriptively; autistic disorder is a disorder characterised by autistic features, ‘autistic’ being an adjective that describes behaviour, just as ‘excitable’ or ‘lethargic’ do.

Autism as a medical condition

Since 1979, a different use of the word ‘autism’ has crept into general use, and even into specialized use. It’s now used to refer to an underlying medical condition that is assumed to cause autistic behaviour. Why does that matter? It matters because what has also crept in is the assumption that if people meet the diagnostic criteria for autistic disorder, that means they have the underlying medical condition that causes autistic behaviiour – that everybody’s autistic characteristics must have the same cause.

That assumption is of crucial importance, because even if you find a genuine syndrome – a group of symptoms that do reliably co-occur – it doesn’t follow that all those symptoms are causally related, something that our fictitious Dr Smith was well aware of. Kanner was aware of it too; he refers to his syndrome as ‘unique’. This wasn’t any old group of symptoms that happened to crop up in eleven children but overlapped here and there in other children; his syndrome consisted of twenty (count ’em) essential common characteristics – how likely was that to happen by chance? Furthermore, Kanner also thought he’d found the cause of all those symptoms; what tied them together was a disturbance of affective contact. That explained everything, including the children’s abnormalities in feeding, speech and motor movement. But Kanner’s causal link between symptoms – a disruption of the social instinct – was based on an assumption made by psychodynamic theory. Not only does later research suggest that there’s little evidence for the existence of a social instinct, it also shows that Kanner was wrong about the symptoms he observed making up a syndrome.

As the number of children diagnosed with his syndrome increased, Kanner found he had to omit some of the symptoms because many children didn’t show them. He also had to group the remaining symptoms under five headings, because not all the children showed all the ones that were left. What Wing and Gould found in their epidemiological study was that although some children did meet the criteria for Kanner’s syndrome, there were no clear-cut differences between them and the rest of the socially impaired group. Wing and Gould pointed out that although social impairment was reliably associated with two other symptoms – i.e. it was part of a syndrome – that syndrome wasn’t clearly differentiable from social impairments in general. Indeed its symptoms formed a spectrum because they varied considerably in severity and blurred into each other.

Despite what Wing and Gould’s conclusions, a common current perception of autism is not that it’s a descriptive term for a rather vague group of symptoms that might have lots of different causes, but that it is a single medical condition that manifests itself in different ways in different individuals. The DSM and ICD, although technically using the word ‘autistic’ or ‘autism’ descriptively (the ICD equivalent of ‘autistic disorder’ is ‘childhood autism’), reinforce that idea in respect of autism and many other so-called mental disorders. That’s because they are both arranged in the form of labels for syndromes followed by a list of their symptoms, giving the impression that we know that these disorders exist, and we know what their symptoms are. All that remains is to find those elusive and complex causes.

Diagnostic criteria: the effect on research

This way of thinking about autistic characteristics in particular and mental disorders in general, poses a major problem for researchers. Many researchers are aware that we don’t actually know that the symptoms labeled ‘autistic disorder’ in the DSM (‘childhood autism’ in the ICD) are causally linked, and there might be different causes for the same symptoms in different cases, but the only way researchers can locate autistic research participants is by using the diagnostic criteria set out in the DSM or ICD. In many cases, for research purposes autistic participants are required to be diagnosed using specific standardized assessments. This process might look as if it ensures that all the autistic participants form a homogeneous group. They meet the same diagnostic criteria, certainly, but if those diagnostic criteria by definition put people with similar symptoms but different causes for those symptoms into the same basket, the researchers are in effect trying to find differences between a group of apples-and-oranges and a group of pears. Or more accurately, a group of apples-and-oranges and a group of mixed fruit. There will be some differences between the groups, but they are unlikely to shed any light on what causes apples to develop as apples, or what causes oranges to develop as oranges.

One by one, theories about the causes of autistic characteristics have been sidelined because none of them has explained the characteristics of everyone who meets the diagnostic criteria for autism. Studies investigating ‘refrigerator mothers’, sensory processing, theory of mind, executive function, central cognitive coherence, the extreme male brain, vaccines and dietary intolerances have all produced interesting and useful findings, but have all fallen by the wayside because those findings have also tended to be inconclusive and contradictory – not for the specific individuals involved but for people with autism in general. If everyone diagnosed with autistic disorder showed identical symptoms and we knew that all those people had the same cause for their symptoms, inconclusive and contradictory findings would indeed be frustrating and puzzling. But since autistic characteristics vary widely and we don’t know that all autistic people have the same causes for their symptoms, the most likely explanation for inconclusive and contradictory research findings is that there are several different causes for autistic characteristics (different causes in different people), but the diagnostic criteria lump them together regardless.

In the next post, I want to explore why that happens.

Illustration: this work by Phillip Martin is licensed under a Creative Commons Attribution-NonCommercial-NoDerivs 3.0 Unported License.

from syndrome to spectrum

Eagle-eyed readers will have spotted a big difference between Kanner’s 20 ‘essential common characteristics’ and the three characteristics of autistic disorder (impairments in social interaction and communication, and restricted and repetitive behaviour) outlined in fourth edition of the Diagnostic and Statistical Manual of Mental Disorders (DSM-IV) published in 1994. What happened to Kanner’s syndrome in those 50 intervening years?

To summarise the transformation of Kanner’s syndrome, I want to focus on two papers, one a review by Kanner and Leon Eisenberg in 1956 (I used a reprint of this paper from a book chapter), and the other by Lorna Wing and Judith Gould published in 1979 – the account of their famous Camberwell study. Comments from the authors in Adam Feinstein’s excellent resource A History of Autism shed further light on the changes that took place.

Reviewing Kanner’s syndrome

Kanner’s proposal that he’d found a new syndrome generated considerable interest, debate – and confusion. Similar syndromes with different names were puzzled over. There was much discussion about whether Kanner had found a new syndrome and whether (or in what way) it was related to schizophrenia. By 1956, Kanner’s syndrome had been diagnosed in over 120 children “with reasonable certainty”. Kanner and his new colleague at Johns Hopkins, Leon Eisenberg, reviewed the syndrome in their paper ‘Early infantile autism 1943-1955’ and tried to clarify the situation.

They first collapsed Kanner’s 20 essential common characteristics into five;

the five characteristics of early infantile autism

Several of the original 20 characteristics were omitted;

• ability to speak
• physically normal
• food
• masturbatory orgiastic gratification
• from highly intelligent families.

The authors then identify two features as ‘pathognomonic’ (distinguishing characteristics); ‘extreme self-isolation’ and ‘obsessive insistence on the preservation of sameness’. An impairment in communication was no longer seen as a critical feature; “The vicissitudes of language development, often the most striking and challenging of the presenting phenomena, may be seen as derivatives of the basic disturbance in human relatedness.” (p.5). Adam Feinstein asked Leon Eisenberg why he and Kanner had left out the language impairment. Eisenberg said: “I was following Kanner’s lead. It wasn’t that we had extensive discussions.” (Feinstein, 2010; p.47)

Despite this attempt at clarification, the confusion over syndromes and symptoms continued. In 1958 the child psychotherapist E.J. Anthony observed wryly: “The cult of names added chaos to an already confused situation, since there did not seem to be a sufficiency of symptoms to share out among the various prospectors, without a good deal of overlap.” (Wing & Gould, 1979)

Kanner complained in 1965 about a “pseudo-diagnostic wastebasket into which an assortment of heterogeneous conditions were thrown indiscriminately. Infantile autism was stuffed into the basket along with everything else…Such looseness threw all curiosity about diagnostic criteria to the winds as irrelevant impediments on the road to therapy, which was applied to all-comers as if their problems were identical. The therapeutic cart was put before the diagnostic horse and, more often than not, the horse was left out altogether.” (Feinstein, 2010; p.41)

Carl Fenichel, who founded a treatment centre in New York thought differently. At the Leo Kanner Colloquium on Child Development, Deviations and Treatment in 1973 he said; “We scrapped these labels 18 years ago at our place….We found that all these labels are just meaningless… We learn more about these kids from working with them on a day-to-day basis. Too many people feel that sticking a label on them means that they now know what this kid needs. I think this is a dangerous, misleading and destructive process.” (Feinstein, 2010; p.53)

The Camberwell study

The situation was in desperate need of clarification. In 1977 Lorna Wing and Judith Gould, based at the Maudsley Hospital in London, began a study designed to sort out the classification of disorders of social interaction. In 1979 they published their findings. Their paper opens with list of syndromes similar to Kanner’s, which illustrates how confusing the picture was at the time;

dementia precoccissima
dementia precoccissima catatonia
primitive catatonic psychosis of idiocy
dementia
symbiotic psychosis
autistic psychopathy and
early infantile autism.

The symptoms of the syndromes tended to overlap, so rather than starting with the syndromes, Wing and Gould began with the children’s characteristics. They screened 914 children in the London Borough of Camberwell who were known to health, education or social services as having a physical or mental handicap or behaviour disturbance. They identified 132 who showed either the key features associated with impairments of social interaction in the literature (social interaction and verbal or nonverbal language and repetitive, stereotyped activities) or signs of severe retardation.

They found the children could be divided into two groups; the ‘sociable severely retarded’ group who showed social behaviour appropriate to their mental age, and the ‘socially impaired’ group, who didn’t. The only named syndrome that matched the characteristics of any of the children was Kanner’s early childhood autism, so the socially impaired group were sub-divided into autistic (according to Kanner’s criteria) and non-autistic children. (There were further sub-divisions that I’ll look at another time.) Two of Wing and Gould’s findings are especially relevant to a discussion about Kanner’s syndrome.

First, they found a cluster of abnormalities “consisting of impairment of social interaction, repetitive activities in place of imaginative symbolic interests, and impairment of language development”. This cluster became known as the Triad of Impairments. (Incidentally, if anyone knows when this term was first used, I’d be interested to know. My inquiries so far have drawn a blank.)

Secondly, although some children met the criteria for Kanner’s syndrome, the pattern of abnormalities Wing and Gould found within their socially impaired group wasn’t clear-cut; “Unlike the other named syndromes, the behavior pattern described by Kanner could be identified reliably, but the findings of the present study bring into question the usefulness of regarding childhood autism as a specific condition.” (p.27)

Wing and Gould concluded: “The distribution of the variables among the subgroups suggested that they formed a continuum of severity rather than discrete entities”. (p.26)

Later, the continuum became a spectrum. In an interview with Adam Feinstein, Judith Gould said; “we first called it the ‘autistic continuum’ and then we realized that the word continuum had an implication of discrete descriptions along a line, whereas that was not really what it was. It was not a question of moving in severity from very severe to mild… The concept is more like a spectrum of light, with blurring.” (Feinstein, 2010: p.153.)

Wing and Gould were surprised by their findings. Lorna Wing commented:

“…Leo Kanner would have found it very difficult to accept the idea of an autistic spectrum, because he was so wedded to his idea of a unique syndrome. I myself started off quite convinced that Kanner was right. … meeting the children … showed me that the idea of a neat barrier between Kanner’s autism and the others was rubbish. And slowly, my view was changed. I had to accept the experience in front of my very eyes.” (Feinstein, 2010; p.151)

Wing and Gould’s findings showed that although some children did have the essential common characteristics described by Kanner (presumably Kanner and Eisenberg’s two pathognomonic features), they appeared to have those features by chance, rather than because they had a specific disorder with symptoms as described by Kanner.

What was also clear was that some children’s social skills were not commensurate with their mental age, that impaired social skills were associated with repetitive behaviours and impaired language, but that these impairments varied considerably between individuals. Wing and Gould’s findings have been supported by subsequent research and are reflected in the DSM-IV criteria for autistic disorder.

It’s interesting to note that as the number of children found to have impairments in social interaction went up, so the number of essential characteristics they had in common went down. Those common characteristics also became less specific. There’s a reason for that, which I’ll move on to in a later post.

What can we conclude about Kanner’s syndrome? I’ve suggested there’s little evidence to support what he thought was the cause of his syndrome (essentially a disruption of the social instinct), and Wing and Gould found little evidence to support the idea that childhood autism was a specific condition. Although we can probably reject Kanner’s hypothesis that he had found a unique syndrome, the children he described were clearly showing atypical development, so we’re still left with the question of why autistic disorder, as it’s now called, shows such a wide variation in symptoms and, of course, what causes them.

Before moving on to more recent theories about autism and its causes, at the risk of labouring the point, I next want to revisit the idea of the syndrome, a concept that still underpins the classification of mental disorders.

References

Feinstein, A (2010). A History of Autism. Wiley Blackwell.

Kanner. L.. & Eisenberg, L. (1956). Early infantile autism 1943-1955, American Journal of Orthopsychiatry, 26, 55-65.

Reprinted as:

Eisenberg, L. & Kanner, L. (1958). Early infantile autism 1943-1955. In C. F. Reed, I. E. Alexander and S. S. Tomkins (eds.) Psychopathology: A Source Book, Harvard University Press.

Wing, L. & Gould, J. (1979). Severe impairments of social interaction and associated abnormalities in children: Epidemiology and classification, Journal of Autism and Childhood Schizophrenia, 9, 11-29.

social instinct

BlaiseLaPsy on Twitter, in response to what I said about the Freudian concept of social instinct, raised an important point about the work of John Bowlby and Harry Harlow that appeared to provide evidence for the existence of a social instinct. I have reservations about the conclusions drawn from Bowlby’s and Harlow’s findings, and about how the term ‘instinct’ is used. First, a brief round-up of Bowlby and Harlow’s research.

Bowlby, who graduated in medicine and qualified as a psychoanalyst in the UK in the 1930s, was interested in the development of children with behavioural problems and those who had been separated from their parents due to being orphaned or hospitalized. Influenced by René Spitz’s work on orphans, Bowlby became an authority on the effects of maternal deprivation and developed Attachment theory. He concluded that for normal social development, children need a secure relationship with a primary caregiver (usually the mother). Mary Ainsworth later found in her ‘strange situation’ experiments that children showed one of four patterns of attachment to their primary carer.

Harlow qualified at the same time as Bowlby but had a very different academic background. He was an American psychologist; his PhD supervisor was Lewis Terman, who developed the Stanford-Binet IQ test. Prompted by Bowlby’s work, Harlow studied maternal deprivation in rhesus monkeys and macaques. His most famous experiment showed that rhesus monkey infants raised with substitute ‘mothers’ consisting of a wire frame covered/not covered with a terry cloth, preferred the cloth ‘mother’ and clung to it when frightened, even if it was only the wire mother that provided milk. The baby macaques were raised for varying lengths of time in isolation; Harlow looked at the effect on their development, which was invariably abnormal.

What the work by Spitz, Bowlby, Ainsworth and Harlow appears to show is that human and/or primate infants have a social instinct and that instinct triggers a typical pattern of social development. If an infant’s relationship with their primary carer is disrupted by lengthy separation, abnormal social development results. My main problem with these conclusions is the concept of ‘instinct’. Instinct is one of those constructs like ‘love’ or ‘education’ that everybody thinks they understand until they try to find out how it works, or until they discover that their concept of it is different to someone else’s.

We all know what we mean by ‘instinct’ – an automatic, unconscious behaviour. We know what Bowlby, Harlow and others mean by ‘social instinct’ – it’s an automatic, unconscious, typical pattern of social behaviour that appears to develop in the same way in everyone unless something stops it. But Bowlby, Harlow and their contemporaries faced three problems when it came to instinct.

First, as Blaise points out, conceptual models are influenced by cultural worldviews. At the time Spitz, Bowlby, Ainsworth, Harlow and Kanner were researching, human social behaviour was generally assumed to be governed by instincts. Darwin’s work on natural selection implied that many characteristics peculiar to a given species – physical features, physiology and behaviour patterns – were inherited. All male blackbirds have similar songs. Bowerbirds build and decorate complex bowers to attract mates. Ants live in complex colonies, dogs run in packs, cats tend to be solitary. Because human beings tend to behave socially in similar ways across cultures, there was no reason to suppose human social behaviour wasn’t as instinctive as that of blackbirds, bowerbirds, ants, cats or dogs. The main alternative to the psychodynamic framework at the time was Watson and Skinner’s behaviourism, which proposed that complex behaviours such as social interaction were learned. But behaviourism was widely treated with suspicion because it was seen as reductionist. (How can you reduce something as nuanced and complex as social interaction to something as basic as a rat’s tendency to run through tunnels or a pigeon’s tendency to peck?)

Secondly, no one working in child development prior to the 1960s knew much about how the brain worked. They were all guessing. Their guesses were often extremely well informed, but they were guesses nonetheless. Spitz, Bowlby, Ainsworth, Harlow and Kanner all came down on the ‘instinct’ side; Watson and Skinner on the ‘learned’ side, but none of them knew about the biochemical mechanism of learning in the brain.

Thirdly, none of the child development researchers needed to figure out how social instinct worked because the idea of ‘instinct’ itself explained their findings. It was a ‘black box’ concept. They didn’t know what was inside it and didn’t need to know; what they were interested in was what happened when the social instinct was disrupted.

People who did need to figure out how instinct worked and what was inside the black box, were ethologists studying the development of animal behaviour. In the 1950s, researchers such as Lorenz and Tinbergen began to look more closely at the difference between instinctive and learned behaviour. Most people are familiar with the famous pictures of Lorenz being followed by a column of baby geese. Because goslings and ducklings follow their mother from the moment they hatch, it was assumed that this was an instinctive behaviour. What Lorenz discovered was that the tendency to follow something was instinctive, but that what the goslings followed was learned – they followed the first moving object they saw after hatching. It might be their mother, a chicken foster-mother, the farm dog, a pair of boots (didn’t matter who was wearing them) or Konrad Lorenz.

There was a debate about instinct amongst ethologists in the 1960s because it had become clear that different researchers were using the term in different ways and so definitions got tightened up. Unfortunately, apart from Bowlby, many practitioners working in medicine or psychiatry wouldn’t have read the ethology literature – they weren’t (and often still aren’t) interested in the behaviour of goslings or wild macaques even if they had time to keep up to date with it. That’s a pity, or a tragedy depending on how you look at it, as far as instinct is concerned because what has emerged from animal behaviour research is a picture of instinct as an umbrella term that can be applied to a range of different concepts. Essentially, instinct refers to behaviours that are genetically determined, biologically controlled, automatic and unconscious. But it isn’t quite as simple as that.

Levels of instinctive behaviour

Starting at the lowest level, human physiology is genetically determined, biologically controlled, automatic and unconscious; circulation, respiration, digestion, growth and sexual development occur without any awareness or intervention on our part although we are aware of what happens as a result of them. We know a lot about how these autonomic functions work and that they are very similar in everybody. But we wouldn’t usually call autonomic functions ‘instinctive’ because instinct is about how organisms behave rather than how they function.

The most simple form of instinctive behaviour is the reflex – a simple, automatic motor response to specific stimulus. Reflexes – such as the rooting, palmar grasp, startle, swimming and stepping reflexes – are present from birth. Some have obvious survival value; others, like the stepping reflex, form the foundation for behaviours that emerge later – in this case, walking. We know a lot about how reflexes work and that they are very similar in everybody. Most people would classify reflexes as instinctive, I think.

More complex species-specific behaviours, like birds learning songs or building nests, often vary between individuals. Songbirds develop their own unique songs, bowerbirds make their bowers out of whatever materials are available. Although all human beings, regardless of culture, show similarities in social behaviour, the evidence to support the existence of a social instinct is pretty flimsy. We’d expect organisms with similar autonomic functions and similar reflexes to behave in similar ways, but that’s about as far as the evidence takes us. How people interact and communicate with each other and how frequently they do so varies much more than their autonomic functions or reflexes. Some people choose to live in tightly-knit highly interdependent groups, others to live in isolation. Some are highly gregarious, others prefer the company of cats, dogs, horses, the landscape or machines.

I’m a fan of Monkey Life, the TV documentary series about Monkey World, the primate sanctuary in Dorset, UK. A few years ago, Monkey World took in 88 capuchin monkeys from a lab in Chile. Some of them had been born in captivity, others had been captured from the wild. During their rehabilitation, Alison Cronin the sanctuary director commented that the wild-born capuchins instinctively knew how to eat their natural food but the cage-born capuchins didn’t – they had to learn to do that. Alison’s comment introduces a slightly different use of the word ‘instinct’, meaning a behaviour that happens automatically and unconsciously, but isn’t genetically determined and biologically controlled. The documentary also showed that chimps and orang-utans born in captivity tend to be poor mothers. You could argue, as the psychodynamic theorists would have done, that the capuchins’ feeding instinct and the chimps’ and orang-utans’ maternal instincts had been disrupted by their captivity and so hadn’t been allowed to develop normally. That’s one theory. What’s also possible is that the cage-born primates, or those captured in infancy, simply hadn’t had the opportunity to learn how to forage, peel fruit or rear babies.

Human social behaviour varies widely. That variation could be because the normal social instinct is disrupted by events in childhood. But because we don’t know exactly what ‘normal’ human behaviour looks like, and we have no idea how the social instinct works (in contrast to what we know about autonomic functions and reflexes), a more likely explanation is that some aspects of human social interaction are instinctive and others aren’t. Social behaviour is hugely complex, so the question is which bits of social behaviour are instinctive and which aren’t?

As I pointed out in the post about the social instinct and Kanner’s syndrome, the areas of the brain dealing with social behaviour handle complex information from many areas of the brain. From an information-processing perspective, social behaviour, far from being instinctive, results from an interaction between the way the body works, environmental factors such as nutrition, and experience. Most researchers in all areas of child development are aware of the importance of interaction between factors in development, but by necessity, they are usually focusing on one factor only, and tend to overlook anything outside their field of expertise.

Social or sensory deprivation?

A final observation about Harlow’s work. There’s no question that Harlow’s baby primates were socially deprived. But they also suffered sensory deprivation as well, and I don’t know if Harlow controlled for that. Given his conclusions I don’t get the impression he did. Some of the infant macaques, for example, were kept in total darkness for months. Light is essential for entraining circadian rhythms, so absence of light alone would have seriously messed up their physiological functions. Coincidentally, I was listening to Crossing Continents yesterday on BBC Radio 4. A former inmate of Louisiana State Penitentiary, who’d been in solitary confinement for 30 years, was describing his experiences. He highlighted, not so much the social isolation, as the sensory deprivation. He’d had a long time to think about what it was he missed; it would be all too easy to assume in the same situation we’d miss other human beings, when what we might actually miss is the complex sensory input we get from interactions with other people. I’m not trying to reduce social contact to sensory stimuli – social contact is clearly more than the sum of its parts – I’m just saying that it’s very difficult to make a distinction between social interaction and the sensory input that comes with it.

The benefits of hindsight

I’ve been quite critical of psychodynamic theorists, but I’m very aware that they were working with the knowledge that was available at the time. I think what we need to be wary of is assuming that knowledge develops in a straight line; that Freud, Bowlby, Harlow and Kanner were basically right but we now know more than they did. With the benefit of hindsight we can see which aspects of earlier theories are supported by later research and which aren’t. I don’t think there’s much evidence to support the idea of social instinct. What the evidence does suggest is that although instinctive behaviours are quite likely involved in social interaction they are only part of the story.