Identifying the genetic and environmental causes behind autism, epilepsy, cerebral palsy and intellectual disabilities.
Identifying the genetic and environmental causes which may be behind disorders such as autism, epilepsy, cerebral palsy and intellectual disabilities is the focus of a new study funded by The Hospital Research Foundation (THRF).
The study will use twins to discover why apparently “identical” twins can have different neurodevelopmental outcomes, which will then provide insights for non-twin sufferers.
Armed with a THRF Mid-Career Fellowship, Dr Clare van Eyk from the University of Adelaide is leading the study and aims to use the findings to help develop earlier testing for neurodevelopmental disorders (NDDs), which affect over 450,000 Australians.
“My research to date has primarily looked at cerebral palsy. Cerebral palsy has been thought to be the result of brain damage caused by lack of oxygen during development or at the time of birth, however, there is now a large body of evidence supporting the significant role genetics play” Dr van Eyk said.
“With this study, we aim to take this knowledge wider and discover common pathways shared with other NDDs such as autism, intellectual disabilities and epilepsy. We know that these disorders often occur together, so we believe there may be common causes.”
At the moment, there is no prenatal or early developmental test capturing the breadth of NDDs. In fact a diagnosis of cerebral palsy is not usually confirmed until after four years of age, and this can be even later for other disorders like autism.
“If we can identify early signs of abnormal development, we can identify babies who may be at risk of developing a NDD. This can facilitate earlier interventions and improve outcomes for these children.”
Genetic differences in identical twins?
Dr van Eyk said new technology known as Next Generation Sequencing (NGS) is helping to identify a large number of genetic and environmental links to NDDs.
She said twins provided a unique insight into these links and is currently sourcing identical twins under 25 years of age, where one twin suffers from an NDD and the other does not, to participate in the study.
“Identical twins are quite special. Even though they are apparently genetically the same, they can often have very different developmental outcomes,” she said.
“Why does one baby have poorer outcomes? We want to tease out the causes behind these rare genetic disorders which will then help to inform about development in the wider community.”
If you know any monozygotic twins (identical, from a single egg) where one twin is suffering from a NDD, please contact [email protected]