

A variety of genetic factors are likely to be the ultimate cause of most cases of autism. These may work by themselves, or in combination with environmental factors, to lead a child’s brain to develop differently and result in autistic behaviours.
To examine the influences of nature (genetics) and nurture (environment) on a given human quality, scientists study twins.
To appreciate how these studies work, it’s first important to understand there are two types of twins. Identical twins share all of their DNA and, assuming they grow up in the same household, they will also share all of their environment. Fraternal twins also share all of their environment, but only around half of their DNA, just like non-twin siblings.
Twin studies start by defining a clear population, say the metropolitan area of a city, and finding as many sets of twins as possible in that area where one or both of the twins have the given trait of interest – in this case, autism.
Scientists then look at the “concordance” of that trait – that is, the percentage chance that if one twin has autism, the other twin will also have autism. If the concordance is higher for identical twins than fraternal twins, then we can say the difference is due to the increased amount of genetic material shared by the identical twins, and that autism is influenced by genetics.
The first twin study of autism was conducted in 1977 on 11 identical and ten fraternal twins across Great Britain, where at least one of the twins had autism. Concordance for identical twins was 36%, compared to 0% for the fraternal twins.
While the study was only small in size, it provided the first evidence that autism may be genetic in origin. Since this pioneering study, more than a dozen further twin studies have confirmed this original observation.
The best current estimate is that there is a 50-80% concordance for identical twins and a 5-20% concordance for fraternal twins. This indicates a strong genetic component to the condition. The figure for fraternal twins – 5-20% – also represents the chance of a couple who already have a child with autism having a second child with autism (referred to as the “recurrence risk”).
Once scientists have established that the cause of a disorder is influenced by genes, the next task is to identify the exact genes that might be involved. However, after several decades of intensive research, scientists could find no one genetic mutation that all individuals diagnosed with autism shared.
It was these findings (or lack of findings) that led scientists to stop thinking of autism as one condition with one cause. They started viewing it as many different conditions which all have relatively similar behavioural symptoms.
This new view of autism has proved extremely fruitful in discovering subtypes of autism. For example, a number of conditions have very clear genetic or chromosomal abnormalities that can lead to autistic behaviours.
These include disorders that have abnormalities of the chromosomes, such as Down syndrome. While no chromosomal condition itself accounts for any more than 1% of individuals with autism, when combined they account for approximately 10-15% of all individuals diagnosed with autism.
The exact genetic abnormalities that may lead to the remaining cases of autism are not completely clear. There are two reasons for this.
The first is that the genetic regions involved are likely to be very complex. Scientists have needed to develop new techniques to examine them.
The second is that it is probable the genetic mutations are very rare and complex. The DNA chain that forms our chromosomes contains more than 3 billion building blocks. To identify small pieces of DNA that may be linked to the development of autism among so many base pairs, scientists need to study a very large number of people with autism.
To date, no study has been able to examine the thousands of people necessary to identify with accuracy all of the small mutations that might lead to autism.
However, with genetic technologies improving at an astronomical pace, as well as global scientific cooperation that will lead to large numbers of people being studied, major advances in the understanding of the causes of autism are likely in the very near future.
A likely prospect is that many cases of autism will be related to what is called “common genetic variation”. This refers to differences in genes that are also found in many individuals who do not have autism and which by themselves are not sufficient to lead to autism. However, when multiple genetic risk factors are found in the same person, they combine to have a major effect on how the brain develops.
A small proportion of autism cases are also likely to be caused by what are known as de novo (“new”) mutations. Most often, the egg and sperm that create a baby contain genetic material that is present in the mother and father, respectively. However, in rare cases, the egg and sperm may contain genetic material that is not found in either parent. There is now good evidence that some people with autism may have inherited de novo genetic mutations that have an effect on brain development.
by Andrew Whitehouse, Winthrop Professor, Telethon Kids Institute, University of Western Australia
This is an excerpt of an article originally published on The Conversation. Read the original article.
For a considerable time scientists were searching for one clear brain difference that may be lead to autistic behaviours. However, this hope has yet to be fulfilled, with few studies identifying brain characteristics that are shared by different individuals diagnosed with autism.
This may be a further indication that autism has many different causes, but it may also be a reflection of the difficulties in studying the brain.
Currently, scientists use a variety of clever techniques to understand the structure and function of the brain, such as magnetic fields, X-rays and radioactive chemicals. As ingenious as these methods are, they are unable to provide a full measure of the tremendous complexity of how the brain operates.It is also unlikely that autism affects just one area of the brain alone. The complex behaviours of individuals with autism, which include cognitive, language and sensory difficulties, make it difficult to pinpoint just one brain region that may be affected. Nevertheless, some promising leads have shown how different brain pathways may lead to autistic behaviours.
There is increasing evidence that differences in brain development may begin prenatally in some individuals with autism. Several studies of prenatal ultrasound measurements have found evidence for differences in the growth patterns of the brain in fetuses later diagnosed with autism. Newborns later diagnosed with autism are often also reported to have large heads at birth (“macrocephaly”).
Another research technique has been to dissect the brains of individuals with autism who have prematurely died, so-called post-mortem studies. A recent study that examined the brains of 11 autistic individuals at the microscopic level found changes in the structure and organisation of the brain cells that form during fetal life, indicating differences in brain development that begin very soon after conception.
Another well-studied area in autism is head circumference growth in the first years of life. This research dates back to 1943 and Leo Kanner’s original study that found five of the 11 children with autism he examined had large heads.
Several small studies throughout the 1990s and 2000s searched the medical records of relatively small groups of children with autism. These found that a key period was the first two years of life, in which a minority of children later diagnosed with autism had a marked increase in the rate of growth of their head.
During the first two years of life, the size of an infant’s head is a reasonable indicator of total brain size, and for many years “brain overgrowth” during very early development was seen as a risk factor for a later diagnosis of autism.
However, more recently, this view has been challenged by the release of the largest ever study in this area, which found no link between infant head circumference growth and autism.
Studies using brain imaging machines have examined whether parts of the brains of individuals with autism may be different in size, shape or function.
However, the only consistent finding is just how much inconsistency there is. Not every individual with autism has differences in the size or pattern of growth of different brain regions. For those individuals who do, it is unclear how this may relate to their autistic behaviours.
A great deal of brain imaging research has examined the connections within the brain of individuals with autism. Connectivity is a measure of how well and how much two brain areas communicate with each other. In the study of autism, scientists distinguish between short-range connections (between neighbouring brain areas) and long-range connections (between brain areas further apart).
One prominent theory that has emerged from brain imaging studies is that some individuals with autism may have under-connectivity in long-range connections, but over-connectivity in short-range connections.
If found to be accurate, these brain differences may be able to explain why some individuals with autism have difficulties with complex tasks that require the integration of information from multiple brain regions (such as cognitive and social abilities), but have no difficulties, or even enhanced abilities, for tasks that require less integration across brain areas (such as sensory processing).
by Andrew Whitehouse, Winthrop Professor, Telethon Kids Institute, University of Western Australia
This is an excerpt of an article originally published on The Conversation. Read the original article.
Recognition has grown over the past decade that aspects of our environment may also contribute to autism. However, despite substantial research, no one environmental factor has yet been found to be a definite cause of autism.
The most widely used research technique to examine environmental risk factors for autism is epidemiology, which examines how often, and why, diseases occur in different groups of people.
Several environmental factors during prenatal life have been linked with autism. Bacterial or viral infections in the mother during pregnancy have been found to slightly increase the risk of autism in the offspring. This could be due to the passage of harmful infectious organisms from the mother to the fetus through the placenta, or because the immune response of the mother may be detrimental to the developing brain of the fetus.
Other factors in the mother that may be related to offspring autism include a folic acid deficiency at the time of conception, the presence of gestational diabetes and the use of certain antidepressants during pregnancy, but no conclusive evidence exists for any of these links.
Being an older parent, particularly an older father, is also thought to increase the risk of having a child with autism. As males get older, the number of sperm that contain de novo genetic mutations increases.
Some of the de novo genetic mutations will have minimal or no effect on the resulting baby, but some mutations can lead to the brain developing differently.
Several studies have found that fathers who are over 50 at the time of conception have a greater chance of passing on de novo mutations and also a greater risk of having a child with autism.
An obvious, but very important, observation is that not all people who are exposed to these factors are diagnosed with autism. One possible explanation for this is a phenomenon called gene-environment interaction, which is when the genetic make-up of two different people leads them to respond differently to an environmental factor.
by Andrew Whitehouse, Winthrop Professor, Telethon Kids Institute, University of Western Australia
This is an excerpt of an article originally published on The Conversation. Read the original article.
This talk by Prof. Cheryl Dissanayake will provide an overview of research undertaken at OTARC over the last decade. While our research was initially focused on the early childhood years, it now covers the developmental lifespan. We have numerous research projects underway at any given time, and as a team, strive to work at the nexus of research and practice, with a strong focus on improving the lives of those with autism and their families.
Venue: La Trobe University Bundoora (Melbourne), room LIMS1.101
Time: Thursday 31 May, 4-5pm
No RSVP necessary.
Pradeep Raj, an amazing dad with a strong personal connection to autism research is fundraising to support OTARC Research. He is competing in his first #muaythai bout on February 25th at Dynamite Muay Thai boxing gym.
Read more about Pradeep and donate to the GoFundMe page here:
gofundme.com/pradeeps-fight-for-autism-awareness
Download a flyer to share with family and friends here:
Welcome to the Summer edition of Another Piece!
Staff Changes
I would like to welcome a few new staff to our fantastic team:
We have also welcomed back from maternity leave our Autism CRC Biobank Research Officer, Melanie Muniandy.
Sadly, we also said farewell to our wonderful Administrative Officer Claire Hayden. Although she was only with us for a short time, she fit in to our team so well that we felt she had been here forever! I wish her well with her sea-change.
Events
Planning is currently underway for a series of events to celebrate our 10th anniversary. We started this series off early by hosting two events on campus in early November. (See below for details.) These featured two outstanding scholars:
I am delighted that Liz has moved back to Australia to undertake a Professorship in Education as Macquarie University and hope to involve her in future events.
Look out for more events in the first half of next year leading up to our 10th anniversary in June 2018.
Neurodiversity in the workplace
ANZ Bank and DXC Technology have started a new employment program for autistic adults – the first implementation in Melbourne. The successful applicants will work for DXC in cybersecurity and software testing roles in the ANZ Docklands offices.
DXC Technology have already recruited nearly 60 adults on the autism spectrum in implementations in Adelaide, Canberra and Brisbane. We are excited to continue to contribute to each of these initiatives via our research.
Our partners at Specialisterne have worked on a similar program at Westpac.
Read more here>
Bringing parity to low and middle-income countries
.I recently travelled to Mumbai, India to attend the International Developmental Paediatrics Congress.
One of the objectives of this conference is to bridge the gaps in policy, practice and research that exist between low and middle-income countries (LMICs) and high-income countries (HICs), like Australia. We have much to learn from one another, and I look forward to fostering new collaborations.
Season’s Greetings
I would like to take this opportunity to wish all our staff, students, collaborators, stakeholders and readers the best for the festive season ahead. Wishing you all a Happy New Year, and hoping 2018 will be another excellent one for research in Autism.
**Please note: Our Centre will be closed from Friday 22nd December, re-opening Monday 8th January 2018.**
AUSTRALASIAN SOCIETY FOR AUTISM RESEARCH (AsFAR)
Inaugural State Conference
We hosted the first ASfAR state-based conference at La Trobe on 10 November, which was well received. Professor Sally Rogers, from the MIND Institute at UC Davis, gave the keynote address, and we had both Victorian and interstate delegates attend the meeting. We received sponsorship from the Autism CRC, Amaze and the Australian Council for Educational Research (ACER), which is kindly acknowledged. We ran two parallel streams for much of the day, which speaks to the interest and the number of submissions received for presentation. I would like to acknowledge the Scientific and local Organising Committees, which each worked hard to ensure a successful day. The latter committee also contributed to a very successful community event hosted the day before.
COMMUNITY PARTICIPATION IN AUTISM RESEARCH
OTARC hosted a free public event on 9 November. Professor Liz Pellicano gave the keynote speech, complemented by six speakers who were either parents or autistic individuals. The event was well attended and received, with many guests commenting particularly on the contributions of the community voices on OTARC’s research areas:
Congratulations to the following students who submitted their final requirements this year. A special mention goes to Megan Clark, whose thesis was in the top 5%; one examiner wrote:
“All told the thesis is comprehensive, novel, and will have a substantial contribution to the understanding of the developmental profile of school-age children with ASD”
PhD Cathy Bent Emma Baker Megan Clark |
Doctor of Clinical Psychology Maria Lambrou Zoe Vinen |
Masters Andrew Halim Deniz Ozbilgin Felicity Peel |
Honours Daniel Berends Emily Canton Paula Grogan Siobhan Korbut Stephanie Roussis |
Professor Dissanayake was interviewed for this story on the ABC TV program Lateline, about the DXC/ANZ employment program.
http://www.abc.net.au/lateline/the-autism-advantage:-why-anz-is-the-latest-big/9225604
ASDETECT EVALUATION STUDY
Do you have a child between 11 and 30 months? Learn why pointing and other communication milestones are important for children’s development by joining this study to evaluate our award-winning early detection mobile app.
Participate in this study – learn more
STUDY OF AUSTRALIAN SCHOOL LEAVERS WITH AUTISM
Are you aged between 15 and 25, or the parent/carer of someone who is? We are seeking participants for our longitudinal study of post-school outcomes.
Participate in this study – learn more
THE AUSTRALIAN AUTISM BIOBANK
An Autism CRC signature project. OTARC is the Victorian collection site.
We are seeking children with ASD aged 2-17 years, as well as children *without* a diagnosis of ASD and their parents to participate as part of our community comparison group.
Participate in this study – learn more
We’re pleased to report a positive response to the concerted campaign run by Amaze, OTARC and many other organisations to encourage the Victorian State government to adopt the recommendations of the report
The priority actions recommended include
Thanks for helping make this happen!
Read the summary response here (pdf)>
Parents & Teachers: Emotion-based learning for children with ASD
Westmead Feelings Program 1
Teach children with ASD and mild ID to understand their own and others’ emotions
Westmead Feelings Program 1 (WFP 1) is a 15-month intervention program teaching children with autism spectrum disorder (ASD) and mild intellectual disability (ID) about emotional understanding and social awareness, in close collaboration with parents, teachers and facilitators. Not just clinic-based, the Program helps parents and teachers become emotion coaches, supporting children to manage their feelings in everyday settings.
Delivered in fun and engaging group sessions, WFP 1 provides the opportunity for children with similar abilities to form long-lasting friendships. Parent sessions connect families with each other in a safe environment to share experiences and support, while sessions for teachers ensure cohesive implementation of WFP 1 strategies across the school.
Westmead Feelings Program 1
Teach children with ASD and mild ID to understand their own and others’ emotions
Westmead Feelings Program 1 (WFP 1) is a 15-month intervention program teaching children with autism spectrum disorder (ASD) and mild intellectual disability (ID) about emotional understanding and social awareness, in close collaboration with parents, teachers and facilitators. Not just clinic-based, the Program helps parents and teachers become emotion coaches, supporting children to manage their feelings in everyday settings.
Delivered in fun and engaging group sessions, WFP 1 provides the opportunity for children with similar abilities to form long-lasting friendships. Parent sessions connect families with each other in a safe environment to share experiences and support, while sessions for teachers ensure cohesive implementation of WFP 1 strategies across the school.
We were delighted to support the first Sensory Shopping Day at Northland Shopping Centre, in partnership with Amaze. Many people not on the spectrum commented how much better the experience of shopping with low sensory stimulation, was for them as well! This anecdotal evidence confirms something we’ve known for some time: reasonable adjustments made for people with autism (particularly for school students) end up benefiting everyone.
Northland has been a leader with their Quiet Room at the mall. Many other companies are now following their lead, with supermarket giant, Coles, rolling out a quiet hour across 68 of their stores!’
After tips for managing the festive season with your kids? This article on Amaze’s website might help.
OTARC’s Study of Australian School Leavers with Autism is *still* seeking applications for a PhD Scholarship worth $26,682 per annum over 3 years. International applicants welcome (conditions apply).
Applications will remain open until February 2018.
This FREE event at La Trobe University Bundoora presents many perspectives on involving the autism community in research.
There will be time throughout the evening for questions to be directed at the panelists.
Room to be advised once registrations close.
Tickets are FREE but registration is essential. Registration closes 5pm Thursday 2 November.
Read more “Public Talk: Perspectives on Community Involvement in Autism Research” →
Join Professor Cheryl Dissanayake and many other health professionals at this series of online seminars. Attendees pay what they can afford, with all proceeds donated to charity.
Specialisterne Denmark’s founder Thorkil Sonne gives a personal account of his journey
55 minutes