Autism is a lifelong condition that affects a person's ability to communicate and form relationships with others. The exact causes of autism remain unknown, but it is becoming increasingly apparent that combinations of genes and environmental factors are involved. Children with autism can be very different from one another. Some children with autism are high functioning, with language and intelligence intact. Others may be nonverbal and/or intellectually disabled. We are now beginning to appreciate that careful observation of both similarities and differences among children with autism will allow us to discover more about the many underlying causes.
The aim of the Australian Autism Biobank is to collect detailed information on Australian children with autism and their families. By understanding how the many genes and gene combinations may result in different types of autism, we aim to learn much more about why autism occurs.
Our knowledge of autism has advanced considerably over the past decade as a result of the worldwide research effort. Recent findings suggest that autism can be diagnosed at an earlier age. There are also now grounds for thinking that biological compounds or medications will eventually be discovered that are able to overcome or reduce disabling autistic characteristics and behaviours. We are taking a long-term approach towards establishing a strong autism research program in Australia that is closely integrated with autism clinical services and also the training of future health care professionals providing services to affected individuals and their families. We expect that some of the discoveries that will emerge from the Australian Autism Biobank will contribute to international autism research.
Who is carrying out the study?
Funded by the Autism CRC, the Australian Autism Biobank is conducted across four Australian states, and is led by Professor Andrew Whitehouse (WA), Professor Cheryl Dissanayake (Vic), Professor Valsamma Eapen (NSW) and Dr Honey Heussler (Qld). Biological data is stored at the Wesley Research Institute, Wesley Hospital, Brisbane, under the custodianship of the Autism CRC.
What will happen if I choose to take part?
If you decide to take part, a researcher will contact you via telephone. They will discuss the three parts of the study, which will take around 2 hours all up. These are:
- Clinical assessment
- Blood sample To obtain genetic information, we will ask to obtain a blood sample from your child. The blood sample will be 8 ml (2 teaspoons). The procedure will take around 10 minutes and will be carried out by suitably qualified staff. The procedure is as follows:
- You and your child will be taken to a ‘child-friendly’ room at a clinical procedure room.
- Your child will be encouraged to sit in a chair.
- A soft rubber band (tourniquet) is placed around your child’s arm.
- Blood will then be taken from his/her arm. Your child will feel a small ‘prick’ sensation as the needle enters the skin. The blood will then fill a test-tube for around 10 seconds.
- The needle is then withdrawn from the skin and a cotton wool bud is placed on your child’s arm to stop the bleeding.
Importantly, the qualified staff are highly experienced in taking blood from children. If you or your child would like to stop this procedure at any time, you may do so. We would also request to take a blood sample from the biological parents (approximately 10ml each). The blood samples will be transported to the Queensland Brain Institute (University of Queensland) and then to the secure facility at the Wesley Research Institute (Brisbane) for long-term storage. For more detail about this process and for further storage information please download the full information booklet for your state.
What will happen to the blood samples?
Blood comprises many substances and we will be extracting two elements from each sample: DeoxyriboNucleic Acid (DNA) and plasma. Each element will be stored in secure freezers at the University of Queensland for later analysis. DNA is the chemical substances that carries the genetic information required for the reproduction, growth, development and function of the human body, including the brain. The DNA will be analysed in search of genes of possible importance to autism and related disorders. We may also look at the plasma for exposures to common chemicals in the environment.
What are the possible disadvantages in taking part?
Some discomfort may be experienced when a blood sample is taken. A local anaesthetic cream can be applied beforehand to minimise pain. Afterwards a small bruise at the site of blood collection may develop. The procedures will be carried out by experienced and qualified staff. The Family Questionnaire asks some personal information about the pregnancy, your child and your family. You are able to answer as many of the questions as you like. Importantly, all information is kept confidential and secure.
The DNA analysis may identify instances where the father is biologically unrelated to the child. These results will be kept strictly confidential and not disclosed to anyone outside of the research team, unless there is written agreement from both the mother and father of the child. There is no cost for taking part in this study.
What are the possible benefits of taking part?
The information we get from this study could help design better ways of assessing and helping future generations of people with autism. You and your child could be involved in an important scientific advance.
Access and use of collected information
The information stored in the Australian Autism Biobank will be valuable to the autism research community. In the first instance, the data will be used by the research team specified on Page 2 of this Information Booklet to investigate the causes of ASD. We will also make the information available to other researchers around Australia and the world. Sharing information between research groups is critical to making research advances, and we would like the Australian Autism Biobank to be part of this important process. Importantly, we will never share any of your personal identifying information with these researchers (e.g., name, address). Instead, your data will be labelled with the code number allocated to you at the start of the research.
Access to the data will be managed by a ‘Data Access Committee’, which will be chaired by Prof Andrew Whitehouse and report directly to the Board of Directors of the Autism CRC. Access to data will only ever be granted by this committee when researchers have approval from an Ethics Committee and where the Data Access Committee can identify a clear potential benefit of the proposed research to the autism community.
You are free to withdraw your consent to participate in this study at any time. Your decision to withdraw consent will not influence the care your child receives from any of the personnel involved in this study. If you withdraw consent, we will destroy the hard and electronic copies of the collected information as well as the biological samples.
What happens to the results of the research study?
We would send you an end-of-year newsletter that gives results of our research. We also plan to publish our findings in scientific journals. We would not normally give feedback about results for individual children to anyone. However, if we found results that might be useful for your child’s education, we could write a report that you could show to the school staff if you wished.
Who has approved the study?
This study has been approved by the Princess Margaret Hospital Ethics Committee, La Trobe University Human Research Ethics Committee, Sydney Local Health District Human Research Ethics Committee, and Mater Health Services Human Research Ethics Committee.
Who to contact if you have any concerns about the running of the study?
If you have any concerns or complaints regarding this study, you can contact the Director of Medical Services at PMH (Telephone No: (08) 9340 8222). Your concerns will be drawn to the attention of the Ethics Committee which is monitoring this study.
This is an ongoing research study.
If you are interested in participating in this study, please contact:
New South Wales
- Autism Biobank NSW Non-ASD Participants Booklet
- Autism Biobank NSW Children queried for ASD Booklet
- Autism Biobank NSW Parent - Guardian Booklet
Rachel Jellett or Melanie Muniandy, firstname.lastname@example.org