Lecture 22; November 28, 2013

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Autism

Book recommendations

An Anthropologist on Mars Oliver Sacks

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Far From the Tree Andrew Solomon

Introduction to the autism spectrum

It seems that autism spectrum disorders have
always existed, though they were not recognized
as a distinct clinical entity until somewhat recently.
The word autism was first coined by Eugen
Bleuler (recall that he also coined the term
schizophrenia) as a symptom of schizophrenia.
In its original meaning, autism referred to a morbid
self-absorption. From autos self (G.).

Leo Kanner (1986-1981)

The modern sense of the word autism was first

used in the late 1930s/early 1940s by Hans
Asperger and Leo Kanner.
Both of these psychiatrists described syndromes in
children reminiscent of modern-day autism
spectrum disorders.
Hans Asperger (1906-1980)
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Prevalence, and the autism spectrum

Every mental illness is believed to exist on a
continuum (see ADHD lecture). However, the
idea of a continuum is especially central to our
current understanding of autism.
The behavioral and neurobiological traits of
autism represent one extreme of the autism
spectrum.

It is possible to have moderate or intermediate

levels of dysfunction. In this case, one is said to
have an autism spectrum disorder.

The prevalence of autism may be as high as 1

in every 500 births. Autism spectrum
disorders as a whole have a prevalence of
around 1 in every 110 births.

The prevalence of autism spectrum disorders

seems to have increased in recent years, but this
is likely due to more refined diagnostic practices.
Previously, children with autism may have been
diagnosed with a learning disability or
neurological impairment.

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The autism spectrum

Up until the DSM5, individuals on the extreme
end of the autism spectrum were diagnosed
with autistic disorder. Those with higher levels
of function were diagnosed with Aspergers
syndrome.
In the DSM5, this scheme has changed.
Aspergers has been folded into Autism
Spectrum Disorder, which is now given a
numerical grade based on the functional
impairment.
Grades range from 3 Requires very substantial
support to 1 Requires support.

Thus high-functioning autism and Aspergers

syndrome are now diagnosed as dierent
levels of Autism Spectrum Disorder.

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Clinical description
Autism spectrum disorders typically appear in early
childhood, often being first recognized during the second
year of life.

Not surprisingly, this is around the same time social behavior

is supposed to begin developing.

Parents often report a roughly normal pattern of

development up to the 12 month mark, followed by a
startling decline in function in following years.
This pattern of development has given rise to many
superstitious theories of autism, for example the putative link
to vaccines (the delivery of which coincides with sudden
declines in function).

The autism spectrum disorders are characterized by

three major areas of diculty:
Impaired communication
Impaired social interactions
Restricted behavior, interests, and activities

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Social interactions
Children with autism do not tend to develop the types of
social relationships expected for their age.
This may manifest as a lack of apparent social interest, or as
unusual social interactions.
Children may interact with others only insofar as they are useful
to their needs.

Children with autism have limited abilities in social-emotional

reciprocity they cannot engage with others and share
thoughts or feelings.
Deficits in social function can be observed in very young
children, often before the onset of more obvious symptoms.
Children with autism have reduced eye contact with parents,
and seem to focus on non-social stimuli.
Children with autism are insensitive to social cues that other
children can detect effortlessly.
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Communication
People with autism nearly always have
problems or delays in communication.
Language skill can vary widely, with some
individuals showing extremely high levels of
function.
On average, about 1/3 of people with
autism never acquire speech at all.

For those who develop speech, the pattern

of communication is often quite unusual.
Echolalia repeating the speech and
intonation of others is common.
Children may possess an odd combination
of verbal abilities, for example knowing the
alphabet but not their own name.
Individuals may have an overly literal
understanding of language may have
difficulties understanding analogies and
metaphors.
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Restricted behavior
Individuals with autism often exhibit
repetitive, apparently pointless behaviors
called stereotypies.
Since these behaviors seem to be
concerned with sensory self-stimulation, the
practice is also called stimming.
Example stereotypies include: rocking, hand
flapping, yelling etc.,
These can often be self-injurious.

Autism is associated with an intense

preference for the status quo individuals
like things to stay the same.
Ritualistic behaviors may also be apparent,
for example lining up ones blocks in order
from largest to smallest.

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Genetics of autism
Autism has a clear genetic component. It has
been known for some time that autism, and
autism spectrum traits seem to run in families.
Families that have one child with autism have a
5-10% risk of having another child with the disorder.

Twin studies have suggest that heritability of

autism spectrum disorders range from 37% to
90%.
However, scientists know of few genes that can
reliably be linked with autism.

Autism spectrum disorders are four times more

common in males than in females.
However, females are over-represented in low-IQ
cases of autism. Higher-IQ variants of autism seem
to be more common among males.
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Genetics of autism
Not only do the autism spectrum disorders themselves
run in families, so do traits that seem to be linked to that
spectrum.
One characteristic trait of individuals on the autism
spectrum is the tendency to systematize, organize, and
classify.
Individuals on the spectrum are also known to develop
eccentric, often obsessive interests in unusual topics.

When these traits are concentrated in a single individual,

they can be quite a burden. But in smaller doses, they might
be very well suited to certain professions.
University students studying mathematics, engineering and
physics are more likely to have relatives with autism (BaronCohen 1997).
Similarly, fathers and grandfathers of children with autism
are over-represented in fields such as engineering (BaronCohen 1997).
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The mirror neuron system

Mirror neurons are neurons that will fire both when an individual
performs a certain action, and when they observe that action being
performed by someone else.
Mirror neurons can be found in a variety of places throughout the cortex,
though they were first discovered in the premotor cortex.
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Illustration from J.P.J. Pinel, Biopsychology. Allyn & Bacon, 2011

The mirror neuron system

The mirror neuron system may provide a
neurobiological basis for social cognition.

Social cognition is the knowledge of the perceptions,

ideas, and intentions of others (an ability that is notably
absent or deficient in individuals on the autism spectrum).

Mirror neurons respond to the understanding of an

action, not to some superficial aspect of it.

For example: if you had discovered a mirror neuron that

responded to picking up a certain object, it would only fire
in response to that object. Moreover, it would fire not only
when the action is directly seen, but also when it is implied
but hidden (say behind a screen).

Mirror neurons have also been found in the cingulate

cortex, and the insula. These neurons may play a role
in empathy.
It seems that many of the deficits seen in autism are
precisely those skills that are controlled by mirror
neurons.

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Frontal
lobe!
Insula!

Illustration from Kolb & Wishaw, An Introduction to Brain and Behavior. Sinauer, 2014

Mirror neurons in autism

The function of mirror neurons cannot be directly
studied in humans, as doing so requires the use of
brain surgery and invasive electrophysiological
recording equipment.
Nevertheless, it is possible to infer the activity of
mirror neurons through EEG recordings.
The mu wave is a an EEG wave that can be
observed in the premotor cortex. It is
suppressed both when an individual carries out a
behavior, and when the individual views the same
behavior in someone else.
Unlike healthy control children, children with
autism do not show suppression of the mu wave
when observing others carrying out a behavior.
This suggests a problem with the function of their
mirror neuron systems.

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The role of prenatal testosterone

Autism spectrum disorders are much more
common in males. When these disorders
appear in females, they are often present quite
dierently.
Simon Baron-Cohen and others have
suggested that exposure to testosterone
during prenatal brain development may play a
role in the development of autism.
This is a rather interesting hypothesis, because
it suggests that the autistic brain is actually an
over-masculinized brain.
By extension, autistic cognitive and social traits
are simply exaggerated versions of how those
traits normally work in males.
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The role of prenatal testosterone

Testosterone levels produced by the fetus spike mid-gestation. It is during this period that
much of the body and brains sexually dimorphic features develop.
Sexual dimorphisms are anatomical or physiological characteristics that are substantially different
between males and females. They often develop under the influence of hormones, not genetics.

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Prenatal testosterone
As you may recall from the eating
disorder lecture, prenatal
testosterone aects the digit ratio
the ratio of the lengths of the ring and
index fingers.
Males have lower digit ratios (~0.947)
than females (~0.965).

The digit ratio is substantially lower

in males with autism as compared to
control males.
This implies that they were exposed to
more testosterone than usual in the
womb.

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You can measure your own digit ratio.

Measure the index and ring fingers from
the basal crease to the tip, then divide
the index finger by the ring finger (2D/4D).

Prenatal testosterone
Numerous subtle psychological traits are
correlated with prenatal testosterone.
Eye contact at 12 months of age is
correlated with prenatal testosterone.
Males naturally make less eye contact than
females, and this is exacerbated by excess
prenatal testosterone. Interestingly, this is
also a trait on the autism spectrum.

Prenatal testosterone also seems to

reduce performance at mind-reading
tasks.
These are experimental tasks where
children are asked to look at a picture of a
person, and guess what that persons
emotional state may be.
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Example stimulus from a mind-reading

task. Can you tell what emotion this face
is expressing?

Treatment
Autism spectrum disorders have no easily defined
neurochemical underpinning. For that reason, the search for
pharmacotherapies has yielded little.

Autism spectrum disorders can, however, be made more

manageable by treating secondary conditions such as depression,
anxiety, aggression, tantrums and stereotypic behaviors.

Clinical trials with oxytocin are showing promise. Recall that

this hormone is involved in social cognition, bonding, and
cooperativeness, and can easily be administered intranasally to
humans.
There is also some evidence that individuals with autism spectrum
disorders have lower levels of plasma oxytocin, but this doesnt
necessarily reflect the levels of oxytocin in the brain.

A recent clinical trial of intravenous oxytocin to adults with
autism showed promising reductions in stereotypic behavior.
Intranasal oxytocin was also shown to improve emotion
recognition in young children with autism.

This suggests that oxytocin may be useful in treating some of the

core symptoms of autism spectrum disorders

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