More than one in 100 Australian children under the age of six is diagnosed with autism. Currently, behaviour-based assessment is needed to make the diagnosis, along with clinical assessments to describe important characteristics such as language and intelligence. Today an ever increasing minority of children with autism has an identified genetic cause, however the biological basis is still uncertain for many.
It is possible that interactions between our genes and early life experiences (including events during pregnancy and birth) affect our health and wellbeing. One way that these experiences could change our health is by altering DNA without changing its sequence. If this happens in regions that are next to genes, it can act as a molecular “switch” that turn genes on or off, which is known as epigenetic change.
The UNIQUE Autism study is exploring epigenetic differences between identical twins, where one or both of the children have autism. Identical twins are ideal for studying epigenetic regions because they are otherwise genetically the same. Detailed assessments are being completed so that any important differences in abilities and difficulties between twins will be identified. If epigenetic differences are identified in twins with different abilities and difficulties it could help researchers understand the cause of autism or lead to useful biomarkers to identify individuals at high risk. The initial pilot study is the first step towards achieving these goals.
UNIQUE Autism is a collaboration between families, clinicians and researchers at the Melbourne Children’s Campus comprising Murdoch Children's Research Institute, The Royal Children’s Hospital, and University of Melbourne Department of Paediatrics, led by Professor Katrina Williams and A/Professor Jeff Craig. The aim of the research is to establish a cohort of identical twin pairs, aged 2-14 years in Victoria that will provide sufficient information to decide if a larger study is needed.