Historical perspectives on autism

Uta FrithUCL Institute of Cognitive Neuroscience

12th June 2008

Priory Court: 1st Dame Stephanie Shirley Lecture

Autism

Setting a historical context for our knowledge

The time line and three centenaries

2020 - 1920 - 1820.......even earlier

How far can we go back in time?What early sources are there?What accelerated our current knowledge?

Leo Kanner (1943)

Hans Asperger (1944)

Each independently identified and named the syndrome

Landmark date 2020 1943/44 1920 - 1820.......

How did knowledge of autism begin?How it has changed over time?

Kanner’s evocative descriptions of the core features of autism

• Autistic alonenes• Insistence on sameness• Islets of abilities

2020 - 1920 - 1820..1805..1790 Further back in time

Some suggestive examples

Short description of a boy at Bethlem Hospital (1805)

Wild boy of Aveyron (ca 1790)

2020 - 1920 - 1820... ... ... ... ... ... 500Even further back

The holy fools of the Eastern Church

From 4th Century

Isidora, Simeon, Prokopius, Basil

What can be gained from historical analysis?

Has autism always been with us?How did people in the past cope?What are the universal features?- independent of cultural context

But, we cannot proceed unless we havedetailed case descriptions

The case of Hugh Blair of Borgue (ca. 1708 - 1765)

A family feudBrother began civil suit

to have Hugh’s arranged marriage annulledon grounds of mental incapacity

Court annulled marriageHugh Blair’s mental incapacity confirmed

Statements from 29 witnessesDirect examination

2020 - 1920 - 1820 - 1720

Contemporary portraits by Henry Raeburn

Kirkudbright 1792

The Edinburgh court in session

William Hogarth: His servants painted ca. 1750

Descriptions of odd behaviour

• was teased and bullied• took no notice of strangers• never took part in conversation• visited neighbours at all hours• gave unwanted gifts

• insisted on same place in church • went to all burials whether invited or not• collected useless sticks• carried stones from heap to heap• watched water dripping

• could read and write• had prodigious memory

Autistic aloneness

Insistence on sameness

Islets of ability

Autism is not new

Distilling the essence of autism across time need to look beneath the surface

of behavioural descriptions

Autism is universal despite different cultural manifestations

Explanations of odd behaviour

Autistic aloness

Insistence on sameness

Islets of ability

Inability to attribute mental statesto self and others - mindblindness resulting in lack of reciprocal social interaction and communication

Good perceptual processing Attention to detail

Adequate basic information processing capacity

Going Fast forward in Time...1745 ... ... 1985

The mindblindness hypothesis

Mentalising aka Theory of Mind aka mind-reading

The ability to attribute mental states (beliefs, desires)To self and others and predict behaviour on the basis of mental states rather than real states of affairs

If dysfunctional, then lack of reciprocal social interaction, poor communication - can explain autistic aloneness

Mind-blindness or lack of “Theory of Mind” or “impaired mentalizing”

• Not putting yourself into someone else’s shoes• Not recognising that what another person knows, thinks or

feels is different from what you know, think or feel• Not being able to predict what another person will do on

the basis of what they know, think or feel• Not recognising that inner intentions govern others’ actions• Not being aware of your own knowledge, feelings

Sally has a basket. Ann has a box. Sally puts a marble in her basketSally goes out.

Naughty Ann transfers marble into her own box.

Sally comes back. Where will she look for her marble?Where she thinks it is!

Hugh Blair failed test of Theory of Mindon 16 July 1747

Judges asked questions in writing and asked himto write his answers down

He did not realise that he knew something that judges did not know and that they wished to know about.

He copied the questions!

Clerk’s writingYou are not to copy what is set before youbut write an answer to this question….

16 July 1747

Hugh Blair’s writingAnswer the followin questionWhat brougt you to Edinbrugh

Clerk’s writinganswer the following questionWhat brought you to Edinburgh?

Hugh Blair’s writingYou are not to coppy what his set before youbut write an answer to this question...

Fast Forward Again Fifty years after Hugh Blair Back to the time line 2020 - 1920 - 1820

1820

The historical context around 1820

Portrait and landscape by Constable

What achievements were new?

Ampere studies electromagnetismFaraday invents electric motorFirst fossil recognised as dinosaurBabbage invents difference engine

What happened?

Napoleon banishedRegency period (George IV)

1820 - 1920 - 2020

1820

Franz Josef Gall (1758 - 1828)Mind has a physical seat in the brainBrain controls emotions and actions

Johann Friedrich Herbart (1776 - 1841)Mental phenomena can be studied objectivelyPrinciples of education

1820 - 1920 - 2020

What knowledge relevant to autism?

The historical context around 1920

The Mechanic by F. Leger

What achievements were new?

Einstein completes his theory of relativityRutherford split an atom of nitrogenInsulin extracted to develop diabetes treatmentVitamin D discovered to treat ricketsTuberculosis vaccine

What happened?

WWI is overBolshevik Revolution in Russia

A modern skyscraper

1820 - 1920 - 2020

1920What knowledge relevant to autism?

Neurological syndromes and psychoses

Emil Kraepelin (1856 - 1926) “dementia praecox”

Eugen Bleuler (1857 - 1939) “schizophrenia” and “autism”

1820 - 1920 - 2020

The 20th Century Sources

In ViennaTheodor Heller 1908

– dementia infantilis– disintegrative psychosis

First recognition of psychiatric disorders in children

The 20th Century Sources

G.E. Suchareva 1926 schizoid psychopathyrelationship to “Dementia praecox”congenital brain disordercerebellum, basal ganglia, frontal lobes

In Moscow

“Schizoid Psychopathies of Childhood”

Grunya Efimovna Suchareva (1891-1981)Die schizoiden Psychopathien im Kindesalter

1926 Monatsschrift für Psychiatrie und Neurologie, Bd. 60

Translated by Sula Wolff

Suchareva - anticipating Asperger

Description of 6 boys aged 10 to 13 years

seen over 3 years in Moscow clinic • Characteristic mode of abstract thought, absurdities, eccentricitiesAutistische Einstellung • Poor social adaptation; avoidance of peers; loners• Superficial emotions; hyper- and hyposensitivity• Poverty of expressions (face, voice)• Perseveration; echolalia; obsessive tendencies• Motor clumsiness, mannerisms, poor voice modulation• Differences to schizophrenia• Obvious brain basis of symptoms

This work was largely forgotten

After 1920

Pediatricians, psychiatrists, neurologists in many places started to be interested in children with ‘psychotic’ symptoms

Was it only a matter of time for an inspired clinician researcher to identify autistic children among the large group of mentally handicapped children?

Leo Kanner (1894- 1961)

1943Autistic Disturbances of Affective Contact

Enduring characterisationAutistic alonenessInsistence on samenessIslets of abilities

Assumed biological basis but seduced by refrigerator mother theory

Kanner’s concept of autism was unchallenged for ca. 50 years Now it refers to a narrowly defined subgroup on the autism spectrum

Hans Asperger1906 - 1980

1944Die autistischen Psychopathen im Kindesalter

Asperger assumed that disorder •has genetic basis •is life-long •coexists with high intelligence

Proposed that educational treatment has to be specially adapted for children

Almost forgotten, but rediscovered in 1990s

Scheerer, Rothmann & Goldstein 1945a neglected landmark paper

• Single case description of a boy• Detailed neuropsychological study• Contrast to Kanner’s autism• Cognitive, not emotional disturbances are seen as primary• Original ideas on impairment of abstract abilities,

anticipating ideas on executive dysfunction• Attempt to explain special abilities as abnormal perceptual

processes

Kurt Goldstein 1878–1965 Neurologist

A case of ‘idiot savant’: An experimental study of personality organization

Stephen Wiltshire drawing from memory

Stephen spent 30 minutes taking in 360 degrees of Tokyo skyline from the roof top of Roppongi Hills (270 meters up). Over the next seven days he drew, from memory, a remarkably accurate panorama of the Tokyo skyline

A scientific revolution1960s

• Autism a form of mental retardation• Due to brain pathology rather than poor parenting• If so, social-emotional problems may be explained

as consequence of abnormalities in perception and thinking

• If so, new information processing models can be applied

The 1960s Beginnings of psychological experimentation

• Removing stigma of poor parenting• More attention to intellectual problems• Less attention to affective problems• Main target language problems• Intervention by operant conditioning

Beate Hermelin and Neil O’Connor“Experiments with autistic children” (1970)

Information processing models Uneven profile of abilities

Specific deficitsgood memory for meaninglessvs poor memory for meaningful material

Conclusionsnot peripheral input/output problemsbut central coding difficulties

How far did the early experimental work “explain” autism?

Main features of cases studied in the 60s– Delayed language, no speech, poor speech

• Ideas on disturbance of semantics and pragmatics

– Learning disability• Study of memory, attention, perception, motor skills and learning

• Attempts to differentiate autism from other syndromes with intellectual impairments were only partially successful

• Social difficulties remained the big unknown

The historical context for the mindblindness hypothesis

How did the hypothesis come about?Researchers were turning against BehaviourismUp to then Psychology was the Study of BehaviourNow the Study of Mental Life Study of mental states as they influence behaviour

e.g. pretence, deception, belief, knowledgeJohn takes his umbrella - because he thinks it’s raining,regardless of whether

it is actually raining

1978 David Premack and Guy Woodruff: Does the Chimpanzee have a ‘Theory of Mind?’1983 Heinz Wimmer and Josef Perner: Beliefs about beliefs

The natural life of the mindblindness hypothesis

Step 1 Novel predictionChildren with autism fail to understand False Beliefs while they understand False PhotographsConfirmation (Baron-Cohen, Leslie & Frith, 1985)Since 1985 many more confirmations

Step 2 Negative findingsMeta-analysis of studies (Happé 1994)Children with succeed on False Beliefs with 5-year delay

Step 3 Modifications Individuals with autism can learn about mental states, but still lack intuitive mindreading (e.g. Frith 2003)

Step 4 ExtensionsInvestigations of mind reading in other animals

In autism

Physiological testAre their functional differences in relevant brain regions?Anatomical testAre there structural differences in relevant brain regions?

Surprising findingNo matter what the task a specific neural system is activated during mentalising

A major step forward In the 1990s Brain imaging methods become available

Brain imaging was used to visualise brain system that is active during mentalising

STS-temporal-STS-temporal-parietal junctionparietal junction

Basal temporal, periamygdaloidamygdaloid

Castelli et al., 2000

ParacingulateParacingulate sulcussulcus

Basal temporal

Mentalising systemMentalising system

Evidence for brain abnormality in ASD linked to mentalising failure

Asperger and HFA group show reduced

brain activation in mentalizing system but equal activation in visual system

Components show strong connectivity in the normal brain

But weak connectivity in the autistic brain Castelli et al. 2002

functionally different in autism- less activated in autism during mentalising

structurally different in autism

- smaller volume

Medial prefrontal region

Recent developments from mid-1990s

• Search for genetic and other biological causes• Systematic search for intervention• Continued development of diagnostic instruments• Availability of brain imaging techniques allow

building bridges from cognition to brain• Brain abnormalities may distinguish subgroups,

but have not done so yet

The mirror neuron deficithypothesis

• Can a deficit in this system explain autism?– Can perhaps explain lack of emotional resonance, and

lack of learning by imitation, – but not uneven cognitive abilities, savant talents,

executive dysfunction

• Open questions– How is empathy related to mentalizing?– How is introspection into own mind related to reflection

about other minds

Has there been progress inexplaining the nature and causes of autism?

100 years ago

autism not recognised at all

50 years ago

psychosocial origin presumed - not brain abnormality

Now

slow but steady progress towards identifying brain abnormality, genetic risk factors and other putative causes

Leo Kanner - the legacy

The name

A clinical entity

Nuclear cases as anchors

Hans Asperger - the legacy

• The interest in highly intelligent individuals– Focus of neuropsychological studies, possibly to the

detriment of studying other individuals with ASD

• The case of extreme male intelligence– Simon Baron-Cohen’s theory of the Extreme Male Brain

and Systemizing (vs. Empathizing)

Kurt Goldstein - the legacy

• Work on frontal lobe dysfunction

• Modularity of mind

• Mystery of the savant

Hermelin & O’Connor - the legacy

• Apply neuropsychological methods

• Explain savant intelligence

Mindblindness hypothesis - the legacy

Other hypotheses are needed as well

Could be used to identify phenotype

Need for standardised test of Theory of Mind

2020

What knowledge relevant to autism?

– Genetic blueprint– Visualising structure and function of the living brain– Increasing knowledge about the social brain

and its evolutionary origins

1820 - 1920 - 2020

Autism recognised as one of the most prevalent neuro-developmental disorders, with a basis in the genes

Close to finding biological causes

Close to identifying phenotypes and genotypes

Early diagnosis and intervention

Better educational treatments

1820 - 1920 - 2020

2020 (as seen in 2008)

What progress has been made?