What is ASD?

• ASD stands for Autism Spectrum Disorder and can sometimes be

referred to as Autistic Spectrum Disorder. In this text Autism and
ASD mean the same. ASDs are any developmental disabilities that
have been caused by a brain abnormality. A person with an ASD
typically has difficulty with social and communication skills.

• A person with ASD will typically also prefer to stick to a set of

behaviors and will resist any major (and many minor) changes to
daily activities. Several relatives and friends of people with ASDs
have commented that if the person knows a change is coming in
advance, and has time to prepare for it; the resistance to the
change is either gone completely or is much lower.
 A child with autism develops differently

• While a child without autism will develop in many areas

at a relatively harmonious rate, this may not be the
case for a child with autism. His/her cognitive skills may
develop fast, while their social and language skills trail
behind. On the other hand, his/her language skills may
develop rapidly while their motor skills don't. They may
not be able to catch a ball as well as the other children,
but could have a much larger vocabulary. Nonetheless,
the social skills of a person with autism will not develop
at the same pace as other people's.
 Infants without autism…
• Come into the world with certain abilities (face
preference, imitation, motor synchrony, informative
cries, regularities in biological functioning)
• Change in predictable ways over the first year of life
• Are communicative before they are intentional
• Social in nature

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 Physical contact

• A number of children with an ASD do not like

cuddling or being touched like other children
do. It is wrong to say that all children with
autism are like that.
 Repetitive behaviors
• A person with autism likes predictability.
Routine is his/her best friend. Going through
the motions again and again is very much part
of his/her life. To others, these repetitive
behaviors may seem like bizarre rites.
 Speech

• The higher the severity of the autism, the more

affected are a person's speaking skills. Many
children with an ASD do not speak at all. People with
autism will often repeat words or phrases they hear
- an event called echolalia.
• The speech of a person with ASD may sound much
more formal and woody, compared to other
people's speech. Teenagers with Asperger's
Syndrome can sometimes sound like young
professors. Their intonation may sound flat.
New insights into predictors and possible
contributors to autism

Brain imaging shows increased cerebrospinal fluid around the brains of

babies who later developed autism (right). Image courtesy University of
When kids' autistic brains can't calm down

• One third of children who have autism

spectrum disorder also have epilepsy. It's
related to a major autism risk gene, which is
mutated in patients with autism. But scientists
didn't know why the mutation, catnap2,
caused seizures.
Autism, schizophrenia, bipolar disorder share molecular traits, study finds

• Most medical conditions are largely defined by

their physical symptoms. Psychiatric illnesses,
however, are largely defined by a person's
behavior. A new study challenges that distinction,
identifying many shared -- and distinct -- patterns
of gene expression in the brains of people with
autism, schizophrenia and bipolar disorder. The
data hint at potential targets that may one day
lead to new treatment approaches.
 Facts about Autism
• Autism is a brain-based disorder, onset prenatal
• Involves abnormalities in:
– Qualitative aspects of social development
– Qualitative aspects of communication development
– Repetitive, stereotyped patterns of behavior &
interests
• Affects 4 males to 1 female
• Prevalence for autism is ~1/500; prevalence for
ASD is ~1/250

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 Facts about Autism
• Onset <36 months
• Some have regression before 24 m.
• Diagnosed based on presence of symptoms (no
medical test, no medical cure)
• Numerous comorbid disorders (mood, anxiety,
attention, OC, MR)
• Educational/behavioral tx leads to
improvement, sometimes enormous effects
• Pharmacologic tx helps with some sxs

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 Facts about Autism

• Most cases have no known cause

• Most cases probably heritable
• If have a child with autism, ~8% risk for
autism in later-born children
• 20-40% of siblings of a child with autism
have language and/or social deficits

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Insights into the Early Manifestation of
• Interpersonal synchrony* ASD
• Monitoring the attention of others*(JA)
• Motivated to initiate social engagement (except around
special interests)*
• Social interaction hard to sustain*
• Ability to integrate
• Special interests
• Babbling*
• First words
• *=may see before first birthday

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 Early Manifestation of ASD
• Play – imagination
• Poor integration of gaze, smile,
communication
• Impoverished gesture repertoire
• Limited range of facial expression*
• Repetitive behavior, sensory interests*
• Possible atypical motor features at 6 m*

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Rationale for Studying Early Markers for
Autism
• Parents report first concerns around 18 m.
• Parents often say babies not ‘normal’ even before
first concern
• Retrospective studies indicate abnormalities present
by 12 months of age in some cases
• Brain abnormality as early as prenatal life
• Early intervention may have great benefit
• 86% of 2 year olds with ASD are on the spectrum at
9 years of age
• Most cases are diagnosed after 3 years of age

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 Challenges to Early Identification
• Absence of standardized diagnostic tools for
children under 24 months
• Absence of diagnostic criteria for children
under 24 months
• Physician time with child is brief
• Children often have normal appearance
• Physicians not trained in infant development
(wait & see)

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 Need for Early Intervention
• Critical periods of brain development
• Capitalize on neuroplasticity
• Basic social impairments may result in quite
different kinds and amounts of social
experience for autistic people starting early in
childhood. The lack of this 'expected' input
may play a role in brain organization.

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 Strengths at 14-24 Months
• Play with toys
• Initiation of communication
• Some imitation, oddly manifested
• May follow pointing gestures, but not know what to
do when get to the object
• Positive affect in solitary play
• Attachment
• Some intact social smiling

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 Strengths
• May give eye contact during requests for
objects, not much eye contact during
interactions
• Enjoy rough and tumble play

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 Predictors of outcome
• IQ
• Social (more imitative, better joint attention)
• Verbal ability
• Severity and number of Autism symptoms

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 Benefit of EI: Evidence
• Mostly from children >3 years of age
• Early intensive intervention: improve IQ by
average of 20 points
• Children who start tx earlier tend to fare
better
• EI associated with reduced need later for
special education services
• More children are acquiring language

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 Early Intervention
• Beginning by 24 months is critical
• Parent training
• Systematic instruction in the home and in an
educational setting
• 1:1 as well as group work necessary
• Reconsider ‘least restrictive environment’ – cannot
consider classroom as restrictive if it leads to gains in
language, social, self reg

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 Early Intervention cont..
• Goals: play (object knowledge, social, scripts,
language, symbol); functional communication;
social (face recognition, imitation, joint attention);
cognitive; self regulation
• Methods: continuum of structure; environmental
engineering; visual assists
• Developmental considerations
• Family and community training/involvement
• Setting: home, community (parent-child groups
with typical children), educational

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 Aerobics programme has big benefits for autistic
children, Hong Kong study finds

• Almost 80 per cent of parents whose autistic children

attended an aerobics programme believed the training
had improved their children’s social and communication
skills, the programme’s designers have found.
• The training includes various games that aim to enable
children to get to know each other, play and improve their
physical strength together. Activities include asking
children to sing the same song together before the games
and asking them to run between two baskets multiple
times and move a beanbag from one to the other.
 Rise of the autie-biography
A Japanese author writes about coping with autism

• Naoki Higashida’s descriptions of being autistic

have made him one of the most famous writers in Japan
• “The Reason I Jump”, which came out in 2007, was eventually
translated into over 30 languages. Mr Higashida, then 13,
became internationally famous and is now probably the most
widely read Japanese author after Haruki Murakami.
• Using an alphabet grid and a transcriber, Mr Higashida
explained the hidden frustrations of his condition.
Commanding his body to move is like “remote-controlling a
faulty robot”. He also exposed the depths of his emotions,
admitting that a large statue of Buddha once moved him to
tears. To many, these glimpses were a revelation; lack of
speech clearly does not amount to mental incapacity.
 Beautiful minds, wasted
How not to squander the potential of autistic people

• Even less gifted autistic people often have an extraordinary

capacity to focus and an eye for detail that make them effective
workers. Their desire for routine and dislike of change make them
loyal ones, too. They can excel at jobs that require precision and
repetition, such as updating databases, stocking shelves,
organising libraries or tinkering with broken cars.

• Such sums are dwarfed by the opportunity cost of having so

many potentially productive people dependent on others.
Beautiful or otherwise, an autistic mind is a terrible thing to
waste.
 Autism: Anti-cancer drug may improve
social behavior
• Autism's social deficits are reversed by an
anti-cancer drug
• Using an epigenetic mechanism, romidepsin
restored gene expression and alleviated
social deficits in animal models of autism
A drug used to treat sleeping sickness may also
help with autism
• One theory points the finger at something called the “cellular danger response”. This
involves compounds known as purines, which command cells to halt their usual activities
and brace for an imminent viral attack. That response is normal and, provided it switches
off when the danger has passed, beneficial. But some researchers believe that the
mechanism can end up switched on permanently. This, they think, can encourage the
development of autism.
• Dr Naviaux’s past work with mice shows that when mothers are exposed to a virus-like
stress while pregnant, the cellular danger responses of their pups can become permanently
activated. And one side-effect of the response is to inhibit the growth of neural connections
that is normal in young brains. The result is a set of behaviours—difficulty with social
situations, and a strong preference for familiar things and for routine—that bear a strong
resemblance to autism in humans.
• Suramin, which was discovered in 1916 and has long been used to treat the sleeping
sickness spread by tsetse flies, blocks purines from binding to neurons. Dr Naviaux
reasoned this might help the neurons of young mice afflicted with autism to begin making
connections again. Sure enough, as long as the mice were on the drug, they shed many of
their autistic traits. The next step was to see if the same would happen with humans.
A drug used to treat sleeping sickness may also
help with autism
• It was only an initial trial, but suramin’s effects were dramatic
• MICE are not humans. But they are similar enough that many
drugs that work in mice turn out to work in people as well. Three
years ago Robert Naviaux, a researcher at the University of
California, San Diego, published a paper suggesting that a drug
called suramin could alleviate the symptoms of autism in mice.
That was interesting, for despite all the research into autism, few
effective treatments are available.
• Now, in a paper published in Annals of Clinical and Translational
Neurology, Dr Naviaux reveals that the experiments have been
repeated on humans, and the drug seems effective for them, too.
 A drug used to treat sleeping sickness may
also help with autism
• Every participant given suramin showed
statistically significant improvements in their
performance on the tests at seven days. Those
on the placebo showed no significant
improvement. At 45 days, the boys who were
given the drug were performing better on the
tests than they had before the infusion, but it
was clear that as suramin was leaving their
system, their autistic traits were returning.
 Our To Do List
• Develop better screeners for ASD
• Increase awareness of primary care providers
• Increase detection knowledge of EI staff
• More research on early markers
• Treatment research (what to teach, how to teach,
individual differences)
• Increase EI programs

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 Conclusions
• Use what we have now to start screening
• If parent is concerned, refer
• If initial assessment suggests hint of ASD, refer to
autism infant expert
• Monitor development of all children with social or
language delays
• Monitor development of all sibs of autism
• We know enough to get started now

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