I have recently returned from New York where I attended the International Society for Autism Research (INSAR) Strategic Planning Meeting as vice-President and member of the INSAR Board. Our focus is ensuring this society becomes more global, as only 5% of the worlds autistic people live in first world, high income, high resource nations! Last week, I spent a day in Canberra with our La Trobe Children’s Centre Manager (Kristy Capes) and Margot Prior Autism Intervention Centre Clinical Manager (Carolyne Jones), together with representatives from each of the national Autism Specific Early Learning and Care Centres (ASELCCs). The meeting, hosted by the Department of Social Services (DSS) and the NDIA, focused on how the good work undertaken at the six ASELCCs can be supported following transition into the NDIS, particularly capacity building and research post June 2020 (when block funding from DSS ceases). You can see first had evidence of this work in the video provided below where Dr Hudry and Ms Upson discuss how children with autism can be supported to thrive in childcare. Our collective aim at the ASELCCs is to continue to disseminate this good work into the wider community so that increasing numbers of children with autism and their families can benefit from access to evidence-based early intervention and support.
Prof. Cheryl Dissanayake reflects on a decade’s achievements
OTARC has had many achievements over the last decade, including the:
- development of effective early identification strategies to facilitate earlier diagnoses of children
- establishment of Australia’s first Early Assessment Clinic for Autism so that children can be diagnosed prior to 3 years of age
- joint establishment of the Victorian Autism Specific Early Learning and Care Centre (The Margot Prior Wing) so that children may receive evidence-based early intervention
- enhanced collaboration between autism researchers nationally through supporting the formation of the Australasian Society for Autism Research (ASfAR)
- development of an autism-specific undergraduate subject to educate students about Autism
- increase in knowledge and capacity of research scholars and professionals regarding Autism
- global knowledge transfer on evidence-based practice in early identification and intervention (particularly into low resource settings)
- research partner in the Dandelion Program for employment of people with Autism
- joint establishment and essential partner of the CRC for Living with Autism (2013-2021)
Although significant, 10 years of achievement pales in comparison to a lifetime of achievement, and we were thrilled that our inaugural Chair, Professor Margot Prior was awarded the International Society for Autism Research (INSAR) Lifetime Achievement Award at its annual conference, held in Rotterdam in May. I was privileged to give the Acceptance Keynote on Margot’s behalf, presented by the INSAR President, Professor Simon Baron Cohen. Simon thanked me for introducing Margot to a new cohort of INSAR scholars and, indeed, I had many approach me to comment on her remarkable achievements. Australia is lucky to have her!
OTARC Fast Facts 2017
- There were 2,859 people on our Research Participant Registry. 315 (11%) of these were aged 18 or older.
- Our researchers and students published 40 publications and gave 61 conference presentations.
- The mobile app ASDetect reached a cumulative total of 20,000 downloads.
- Podcasts on autism research topics were downloaded 23,900 times.
There’s a large issue surrounding the relationship between vaccinations and autism. The theory that vaccinations cause autism in young children continues to generate interest in the media and the general public, and may have contributed to the rise of many anti-vaccine campaigns.
Many parents are told by health professionals that their child will ‘grow out’ of what research has shown are early signs of autism. Olga Tennison’s Autism Research Centre’s Dr Kristelle Hudry says this ‘wait and see’ approach misses a vital opportunity for maximising a child’s developmental outcomes by starting very early intervention. Read more “Living with Autism Podcasts: Prevention as Intervention with Dr Kristelle Hudry”
Treatment for children with autism can be intensive and isolating. A different approach in early intervention in child care has been introduced to create a more interactive and cost-effective environment for both children with autism and their families.
OTARC 2014 Phd graduate Rebecca McStay discusses family stress and autism
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.