Is Autism A Pathology? · Aug 21, 04:00 PM

The following is an article by Rita Jordan, Professor in Autism Studies, School of Education, The University of Birmingham.

Professor Jordan is a specialist in the fundamental nature of learning and teaching in autism, (especially on perception, memory, concept development, attention and the role of emotion); autism and language; evaluation of interventions and educational approaches and services; quality of life issues with adults with autism; and innovative uses of information technology, including Virtual Reality in autism.

This article was submitted to the Ooops… Wrong Planet! Symposium, April 14-15, 2001. A version of this paper was first given to the conference, Psychobiology of Autism: current research and practice, University of Durham 15-17 April 1998.


Is Autism a Pathology?
Reflections from theory, research and practice
by Rita Jordan

Abstract

This paper examines the evidence on the fundamental nature of autism from biological and psychological research and considers the implications of this for the question of whether autism should be viewed as a (or several) pathological condition(s) as opposed to a variation of personhood. Issues of primary and secondary difficulties are explored and personal experiences of people with autism, and their writings are used. The paper concludes with a discussion of the ethical issues raised for the treatment of people with autism and for the health of society as a whole.

The biology of autism

Autism is defined on the basis of behaviour. This is essential in a condition where there is no (at least as yet) identifiable biological marker for the condition. The evidence for a biological base for autism, however, is increasingly certain, but this evidence also suggests that there is unlikely to be a single biological factor accounting for all autistic spectrum disorders and so diagnosis will depend on these behavioural criteria, at least for the foreseeable future.

Reviews of the biology of autism conclude that evidence for an organic cause is overwhelming (Bauman and Kemper, 1994; Gillberg 1991; Gillberg and Coleman, 1992; Schopler & Mesibov 1987; Trevarthen et al, 1996). A study by Steffenburg (1991), for example, found that almost 90% of their sample (35 autistic and 17 autistic-like children) showed some evidence of brain damage or dysfunction. Yet these studies do not distinguish ‘pure’ autism (if such a theoretical state can be said to exist) from autism with associated difficulties such as severe learning difficulties, which are themselves known to be associated with abnormal brain anatomy or function.

A biological base for autism may not just rest on evidence of abnormality of structure or function, however, but also on evidence of autism being inherited genetically. Rutter (1997) has given a current estimate of the heritability of autism (based on twin studies) as being 91%. Skuse et al. (1997) provide evidence that suggests that a location on the X chromosome, that is inherited from the father, is responsible for social cognitive skills and that it is significantly related to the executive functioning skills of behavioural inhibition and (to a lesser extent) planning. Since all X chromosomes in males are naturally inherited from the mother, they would miss this site. It cannot be solely responsible for social cognition (or all males would have autism) but it does help to explain the sex bias in autistic spectrum disorders. Skuse is quoted in Schmidt (1997, page 50) as saying “I suggest that girls are genetically pre-programmed to learn almost by instinct to interpret social cues; boys on the other hand do not have this advantage and have to work harder to get to the same point.” Such a sex-linked view of the genetics of autism harks back to the view of Asperger (1944) that autism represented the extreme form of maleness.

Other sites for ‘social-emotional’ genes are also being uncovered, although not yet linked to autism. Insel (1997), for example, has shown that the differences in bonding behaviour between prairie and mountain voles can be predicted by differences in oxytocin and vasopressin receptor genes, but this gene control needs further confirmation. Nor is it clear that its findings would hold for another species such as humans.

Schmidt (1997) points out that ‘pedigree’ studies that have linked certain genes to certain behavioural ‘traits’ have relied on showing that a damaged gene causes some form of abnormal behaviour; that is not the same as saying that a healthy gene on that site would control normal variations in the same healthy behaviour. Work on animals has shown that the kinds of genes that affect human behaviour are likely not to be ‘master genes’ but rather multiple genes with complex interactions, although some within these complexes may be more influential than others.

There are a number of factors pointing to this multiple genetic role, explaining why (given that most individuals with full blown autism will not have children) autism continues to exist. As Baron-Cohen et al. (1997) point out, there are probably evolutionary advantages to some of the genes which, in combination, lead to autism. They show, for example that engineering is far more common in the fathers and grandfathers of children with autism than in other groups and this helps account for the range of other characteristics (sometimes, but not always, difficulties) that appear in the families of people with autism.

There have also been attempts to establish apparently abnormal brain processing in autism, using modern imaging techniques (Elia et al.,1997; Happe et al., 1996; Kates et al., 1998). But, interesting though some of these findings are, one cannot argue causation from present brain functioning. On that basis, the fact that touch in blind people is processed in what would normally be the visual cortex could be taken to indicate that that is the prime difficulty in blindness. Knowing that the visual cortex can take over touch representation is an interesting fact that will help us to understand how blind people think and learn, but it will only mislead us if we fail to recognise that it is the effect rather than the cause of blindness. Sensory disabilities will lead to compensatory development in brain functioning as well as to secondary disabling effects. The ordering of causal chains is important and cannot be solved by time sliced samples of brain functioning. This is true of sensory impairment and it is also true of autism.

The evolutionary psychology of autism

Baron-Cohen (1995) has also developed the social cognitive view of the psychology of autism, to give it an evolutionary focus. He suggests, however, that autism represents a deficit, a failure to develop the social cognitive psychological structures that give humans an evolutionary advantage. It is only in respect to this ‘deficit’ that he proposes (developed more fully in later studies, such as that of 1997) that alternative ways of dealing with the world may be of equal, if different, evolutionary value to humankind and that these ways may be the genetic endowment of autism.

However, it is always harder to be certain of the inherited nature of psychological constructs. In spite of Skuse’s (op cit.) linkage, for example, it is not clear that a difficulty with social cognition is at the heart of autism (in the sense of being a fundamental determiner of the ‘autistic’ style of being) or whether it is not rather a secondary effect of some earlier difference in development. Newton and Reddy (1997) support Dunn’s (1988; 1991) work showing that supposed ‘theory of mind’ ability does not appear as a result of cognitive maturation at four years in normally developing children (Leslie, 1987; 1994) but as the outcome of years of social learning. They showed that, although three year olds may fail traditional tests of false belief such as the Sally-Anne test, they still displayed skilful deception of others in their day to day social life. Bowler (1992) reviews the evidence for ‘theory of mind’ problems in Asperger’s syndrome and shows that there appears to be no difference in day to day social skills between people with Asperger’s syndrome who pass ‘theory of mind’ tests and those who do not.

Clements and Perner (1994) showed that even two year olds could demonstrate understanding of the ‘theory of mind’ principle that ‘seeing equals knowing’ by looking at the appropriate place in the Sally-Anne task but could not make their implicit knowledge explicit by pointing or saying the correct place. A similar dissociation between implicit knowledge demonstrated by pointing and conscious awareness is shown in the phenomenon of ‘blindsight’ found in some neurologically damaged people. This adds to the data suggesting that there is a developmental ontogeny to the characteristic ‘symptoms’ of autism and that they may, at least in part, reflect attempts to compensate, or they may arise as ‘secondary difficulties’ or they may just represent alternative ways of dealing with the world.

If behaviour has an ontology, it usually also has a phylogenetic basis. Whiten and Byrne (1997) collected together the numerous examples, from ethological and anecdotal data, of demonstrations of the ability to deceive in non-human primates. They conclude that the evidence for a ‘theory of mind’ ability in the great apes is convincing, although the examples in monkeys might be due to associationist learning. Hauser and Santos (cited Spinney, 1998) used a version of the Sally-Anne task that simply measured length of looking as a marker of disturbed expectations. They found that tamarind monkeys looked longer when the actor searched in the ‘new’ location, indicating an understanding that the actor cannot have knowledge of an event he hasn’t seen. Hauser goes on to argue that this does not just show implicit knowledge of minds but also explicit knowledge in that the tamarind ‘looking’ could be regarded as equivalent to the indicative language of the human species. Whiten (in press) claims that deception has played a crucial role in evolution that enabled early hominids to compete with physically better adapted animals, once they left their forest habitat.

In bonobo chimpanzees, De Waal (1996; 1997) established that sex is the glue that holds bonobo society together. Sounds are used by all primates to reassure, to gather a partner close, to show pleasure and to indicate status. Empathy, sympathy and a sense of justice were all found in the bonobo population. Moral values develop (and have evolved) from the need to get along. Monkeys and apes maintain long-lasting relationships with non-kin on a tit-for-tat basis and non-reciprocated support terminates the relationship. There are also instances of empathy – displaying imitation of birth manoeuvres, for example, and expressed joy at the birth by another bonobo. Wrangham and Peterson (1996) also suggest that a moral sense develops from the constraints and advantages of social living. On the other hand, chimpanzees have been known to commit premeditated murder. In bonobos females have equal power and status to males (unlike other chimps where males dominate) and their societies are more cohesive. Thus there are complex environmental and cultural forces that also shape primate behaviour and early bonding failure (for whatever reason) can set children off on different developmental paths that further widen any initial differences.

The wider evolutionary context of social behaviours is clear. Small (1997) indicates that every social animal has ways of acknowledging the difference between friend and foe, kin and non-kin, and social status. Great apes, at least, have a sense of ‘self’ and ‘other’. Group living implies competition for food, space and mates.

Byrne (1995) suggests a mechanism in evolution that may have led to these marked developments in social cognition. He suggests that it is the relatively large neocortex found in primates that allows for rapid learning. The complex social structure found in primates indicates that there must be some level of social knowledge in the members of such groups. Monkeys and apes are capable of tactical deception (he cites an example of a young baboon summoning his mother with a distress cry when he finds an adult of inferior status to his mother in possession of a desired piece of food, thus seemingly predicting that his mother would interpret the scene as that of the other adult having robbed him of the food, which appeared to be the case as the mother chased off the other adult). Byrne goes on to claim that the type of embedded hierarchical behavioural strategies seen in gorillas and chimpanzees is indicative of the possession of mental representation. Yet Byrne also claims that the mental representation required by social knowledge may be different from this and may be unrelated to neocortical ratios (given the smaller neocortical ratios of some social monkeys compared to apes), though it may be related to absolute neocortical size.

Dunbar (1996) showed a positive correlation between neocortical ratio and social group size and Byrne (1995) has shown a further positive correlation between neocortical ratio and the frequency of occurrence of tactical deception. Byrne claims that tactical deception is unlikely to have arisen through trial and error learning because of insufficient opportunities to acquire such knowledge in real world scenarios.

It seems, therefore, that there are evolutionary precursors to developing the ability to become aware of mental representations, but that the ability itself needs to be developed within each individual in an environment offering the appropriate ‘affordances’ (Forrester, 1993).

Autism and the individual

How is all of this perceived by those with autistic spectrum disorders themselves? It is clear that those with autism who are aware of their condition are aware of it as being significantly different, although they do not necessarily define this difference as a ‘deficit’ or even an ‘abnormality’. A debate on the Internet on what it was like to have autism produced the following comments, typical of many of the others.

Autism isn’t something a person has, or a ‘shell’ that a person is trapped inside. It is pervasive, it colours every experience, every sensation, perception, thought, emotion, and encounter, every aspect of existence. It is not possible to separate the autism from the person – and if it were possible, the person you’d have left would not be the same person you started with. This is important, so take a moment to consider it: autism is a way of being. It is not possible to separate the person from the autism. (Jim Sinclair, 1993)

People do seem to have trouble realising that we can learn a compensatory skill, but not how to be ‘normal’ (even if we wanted to be totally normal). They can’t realise that our brains and thought processes are different and that we can’t change that any more than the blind can learn to see with their eyes. Or that what is adaptive for normal may be maladaptive for us (and vice versa), and that, in most cases, our ways can be better for us (and can allow us to function quite well in certain situations and at certain tasks). I think a cure for ‘normalcy would be a much better goal than a cure for autism; normalcy is much more prevalent! Jared (1993)

Sperry (1998) makes a similar point (through her interview with a man with Asperger’s syndome) about autism not being an illness and not needing a ‘cure’. Of course, this is a biased sample of individuals who are able enough to express their views in this way and who feel strongly enough to do so. It is also true that some people with autism work hard at diminishing the effects and promote ways of facilitating other children with autism to do the same (Grandin & Scariano, 1986; Williams, 1996). Nevertheless, it need not be assumed that a difference is automatically a deficit to be remedied, and current quality of life should be as important as the less certain future quality presumed to flow from being made ‘less autistic’.

It may be helpful to parents that theories of the psychogenic origin of autism no longer hold sway (at least in the UK) although knowing one has handed on genes may be only slightly easier to bear. But what is the effect on those with autism? The quotes above suggest that (just as with other disabilities) there is a growing political movement among those with autism to re-assert their right to be different and to have that difference respected. It is not clear how claims for ‘effective treatment’ and ‘cures’ fit into this scenario. It may lead to similar outbursts against certain treatments as were faced by those who sought cochlear implants which were rejected as demeaning to deafness and the culture of sign that was then under threat.

A paradox of diagnostic categories

It might be thought that the move away from the ‘deficit’ model of autism would fit well with moves towards inclusion, but there are difficulties. The history of special education has been one in which there has been a parallel development of specialist provision for medically defined conditions, gradually moving through a separation of ‘symptoms’ from learning needs, towards more integration, and an initial exclusion of those with more global learning needs through segregated provision and now towards more inclusion. At the same time, there has been a categorisation of children who might in the past have been seen as mere nuisances or, at extremes, challenges to the system into children with emotional and behavioural problems who did not appear to need separate education as much as the system needed them to have it.

Notions of ‘normalisation’ and equal opportunity in education led inexorably towards including all children in the same educational framework in terms of location, curriculum and even assessment, although it was recognised that some children might only ever ‘work towards’ that inclusion and that teachers would somehow need to ‘differentiate’ (although with a lot of confusion about what that meant) the curriculum to make it accessible to all.

The rationale, of course was that people are not their disabilities, no matter how great or pervasive these might be, and that educators did not need to know about symptoms or categories of disability but only about how these translated into learning needs. From Warnock (DES, 1978) onward it became the orthodoxy that educational needs were on a continuum, rather than separated into categories, and that individuals should be placed on that continuum rather than in separated sections of it. When this was coupled with the predominance of a Behavioural methodology in special education, and the disillusion with some of the diagnostic teaching of reading that had gone on in the 60’s, the climate was one where teachers were told that they did not need to consider within child factors but only to observe behaviour and get the curriculum differentiation and teaching style right to include all children. As Ainscow and Tweddle said (1988) teachers could now ‘lose the labels’.

The labels themselves, however, had not stood still. Earlier labels that had been intended as scientific descriptions (in the new science of psychometrics) soon took on a pejorative and discriminatory flavour and were then replaced by others to reflect the philosophy of the times. However, since the fundamental attitudes of society had not changed, each new label in turn became pejorative and was then replaced. The Warnock label of ‘special educational needs’ was meant to be non-discriminatory since it applied to needs rather than individuals but of course there is little difference between being called a ‘leper’ and being referred to as ‘someone with leprosy’, if neither category is accepted, let alone respected. What of the ‘labels’ in autism?

Wing (1996) pours some scorn on the political correctness that has underpinned the move from ‘autistic’ to ‘people with autism’. Yet she herself has been the force behind the move from ‘autism’ to ‘autistic continuum’ to ‘autistic spectrum’. She has also shown how much more difficult it is to differentially diagnose autistic conditions at the ends of the continuum (or spectrum, if a spectrum can be said to have ‘ends’). This is understandable at the ‘end’ where autism with accompanying severe learning difficulties needs to be distinguished from severe learning difficulties without autism. But what does it mean at the ‘end’ where autistic conditions must be differentiated from people who are eccentric, shy, or socially awkward? Are differences here just of degree, and, if so, how does that fit with attempts to identify fundamental biological or psychological ‘markers’, as outlined above?

And what does it mean to have ‘mild’ autism? Clearly the severity of autism represents a separate dimension to general intelligence (Jordan, 1998) and autism will have different manifestations according to the level of general intelligence, language ability and overall personality and upbringing. Yet, if autism is so much a part of the identity of a person, do they then feel less of a person if their autism becomes ‘milder’? Or is this, as I suspect, a fundamental misinterpretation? People with autism who have additional learning difficulties can be helped to develop skills and knowledge that will, at least in part, enable them to compensate for those difficulties. All people with autism can, and should, be helped to a greater understanding of the non-autistic to give them choices in how far they are included in society, just as we should develop our own understanding of them, to make that inclusion possible. But do we need to make people with autism behave as if they did not have it? Can we accept difference and plan for it in our educational and service provision? Rather than searching for the holy grail of the fundamental ‘deficit’ of autism or the ultimate teaching approach that can effect a ‘cure’, we should perhaps be looking at ways of understanding and valuing the difference.

References

Ainscow, M. & Tweddle, D (1988) Encouraging Success. London, David Fulton

Asperger, H. (1944: 1991) The autistichen psychopathen imkindesalter, In U. Frith (Ed) Autism and Asperger Syndrome. Cambridge, Cambridge University Press

Baron-Cohen, S. (1995) Mindblindness: an essay on autism and theory of mind. London, MIT Press

Baron-Cohen, S., Joliffe, T., Mortimore, C. & Robertson, M (1997) Another advanced test of theory of mind: evidence from high functioning adults with autism or Asperger syndrome. Journal of Child Psychology and Psychiatry, 38, 813-822

Bauman, M.I. & Kemper, T.I (1994) The Neurobiology of Autism. London, John Hopkins University Press

Bowler, D, M. (1992) ‘Theory of mind’ in Asperger’s syndrome. Journal of Child Psychology and Psychiatry, 33, 877-93

Byrne, R. (1995) The Thinking Ape: Evolutionary Origins of Intelligence. Oxford, Oxford University Press.

Clements, W.A. & Perner, J. (1994) Implicit understanding of belief. Cognitive Development, 9, 377-395

Department of Education and Science (1978) Children with Special Educational Needs: the Warnock report DES, HMSO

De Waal, F. (1996) Good natured: the Origins of Right and Wrong in Humans and Other Animals. Boston, Harvard University Press

De Waal, F. (1997) Bonobo: the Forgotten Ape. California, University of California Press

Dunbar, R.I.M. (1996) Grooming, Gossip and the Evolution of Language. New York, Faber

Dunn, J. (1988) The Beginnings of Social Understanding. Oxford, Blackwells.

Dunn, J. (1991) Young childrens understanding of other people: evidence from observations within the family In D. Frye & C. Moore (Eds.) Children’s Theories of Mind. New Jersey, Erlbaum

Elia, M., Manfre, I., Feri, R., Musumeir, SA., Panerai, S., Bottitta, M., Scuderi, C., Delgracco, S., & Stefanim, M.C. (1997) Brain morphometry and psychobehavioural measures in autistic low functioning subjects. Rivista di Neuroradiologica, 10, 431-436

Forrester, MA (1993) Affording social cognitive skills in young children: the overhearing context In D.J. Messer & G.J. Turner (Eds) Critical Influences on Child Language Acquisition and Development. London, MacMillan

Gillberg, C (1991) Autism and autistic-like conditions: subclasses in disorders of empathy. Journal of Child Psychology and Psychiatry, 33, 813-842

Gillberg, C & Coleman, M (1992) The biology of the Autistic syndromes. London, MacKeith Press

Grandin, T. & Scariano, M.M (1986) Emergence, Labelled Autistic. California, Arena Press

Happe, F., Ehler, S., Fletcher, P., Frith, U., Johansson, M., Gillberg, C., Dolan, R., Frachowiak, R. & Frith, C. (1996) Theory of mind in autism: evidence from a PET scan study of Asperger’s syndrome. Neuroreport, 8, 197-201

Insel, T.R. (1997) A neurological basis of social attachment. American Journal of Psychiatry, 154, 726-732

Jordan, R.R. (1998) Autism: an Introductory Handbook for Practitioners. School of Education, University of Birmingham

Kates, WR, Mostofsky, SH., Zimmerman, AW., Mazzocco, MMM., Landa, R., Warsofsky, IS., Kaufman, WE. & Reiss, AL. (1998) Brain imaging in autism. Annals of Neurology, 43, p782 -791

Leslie, A.M. (1987) Pretense and representation: the origins of ‘theory of mind’. Psychological Review, 94, 412-26

Leslie, A. M. (1994) Pretending and believing: issues in the theory of TOMM. Cognition, 50, 211-238

Newton, P. E. & Reddy, V. (1997) The basis for understanding belief. Journal for the theory of Social behaviour, 25, 343-55

Rutter, M. (1997) The genetics of autism. Paper to First central European Workshop, Autism: Clinical, Research, Educational and Social Perspectives, 14 June 1997, Budapest

Schmidt, K (1997) It was my genes guv. New Scientist, 8 November, 1997 46-50

Schopler, E. & Mesibov, G.B. (1987) (Eds.) Neurobiological Issues in Autism. New York, Plenum

Skuse, D.H., James, R.S., Bishop, D.V.M., Coppin, B., Dalton, P., Aamodt-Leeper, G., Bacarese-Hamilton, M., Cresswell, C., McGurk, R. & Jacobs, P.A. (1997) Evidence from Turner’s syndrome of an imprinted X-linked locus affecting cognitive function. Nature, 387, 705-708

Small, M.F. (1997) Family values The Sciences. New York, The New York Academy of Sciences

Sperry, V. (1998) From the inside looking out – a view of the world as seen by one with Asperger syndrome. Autism: the international Journal of Research and Practice, 2, 81-86

Spinney, L (1998) Liar! Liar! The New Scientist, 2121, February 14 1998, 23-26

Steffenberg, S. (1991) Neuropsychiatric assessment of children with autism: a population based study. Developmental Medecine and Child Neurology, 33, 495-511

Trevarthen, C., Aitken, K., Papoudi, D. & Robarts, J (1996) Children with Autism: diagnoses and interventions to meet their needs. London, Jessica Kingsley

Whiten, A. (in press) The role of deception in the evolution of mind In M. Corballis & S.E.G. Lea (Eds.) The Evolution of the Hominid Mind. Oxford, Oxford University Press

Whiten, A. & Byrne, R (Eds.)(1997) Machiavellian Intelligence II. Oxford, Oxford University Press

Williams, D. (1996) Autism: an inside out Approach. London, Jessica Kingsley

Wing, L. (1996) Autism Spectrum Disorders. London, Constable

Wrangham, R. & Peterson, D. (1996) Demonic Males: Apes and the origins of human violence New York, Houghton Mifflin Company


Reproduced by permission of the author.

Comments


  1. Rita J is my professor at Birmingham. Her texts tend to be heading in the right direction, from my viewpoint, but there’s weirdnesses, maybe as a result of a language trap.

    However, Rita tries very hard to understand, because Rita cares to understand us. Sadly, the likes of Schafer and his colleagues seem to be refusing point blank to understand us.

    I find that too disturbing. — David Andrews BA-status, PgCertSpEd    Sep 17, 06:14 PM    #