By Shane Huntington

Neuropsychiatrist Prof Chris Pantelis and neural engineering researcher Prof Stan Skafidas discuss the potential for the use of genetics to improve the diagnosis of autism.

SHANE HUNTINGTON I'm Dr Shane Huntington. Thanks for joining us. Human beings are social animals. We rely on language and the subtle social cues that accompany our words to communicate with each other. But for people with Autism Spectrum Disorder, or ASD for short, the simple acts of communicating and interacting with others in a social setting can be baffling or even terrifying. Currently ASD diagnosis is complex. Psychological assessments and interviews are combined with behavioural observations by parents and teachers and a multitude of other mental disorders need to be carefully ruled out. But we know from twin studies that there's a genetic component to ASD, so why don't we have a genetic test for this condition? Are behavioural observations really the best we can do for desperate parents seeking answers for the challenging behaviour in their children? Surely our extraordinary advances in genetics hint at effective DNA based tests. Today on Up Close we speak to a neuropsychiatrist and an electrical engineer about how we might one day test for ASD based on our genetics. Chris Pantelis is Professor of Neuropsychiatry and Scientific Director of the Melbourne Neuropsychiatry Centre at the University of Melbourne and Melbourne Health. Stan Skafidas is Professor of Neural Engineering at the Department of Electrical and Electronic Engineering; leads the Melbourne School of Engineering's research in nanoelectronics and is the Director of the Centre for Neural Engineering. Welcome to Up Close Stan and Chris.

STAN SKAFIDAS Thank you.

CHRIS PANTELIS Thank you.

SHANE HUNTINGTON Chris, I might start with you. What sorts of tests are currently available to diagnose someone with Autism Spectrum Disorder?

CHRISTOS PANTELIS So the diagnosis of Autism Spectrum Disorder relies very much on clinical observation. It requires careful considered observation of behaviour, social interaction and particularly looking at language and communication; also observations related to stereotype, the repetitive behaviours that many of these children manifest. The disorder is diagnosed early. The onset is before the age of three and it's the observation that children are not engaging, not socialising appropriately, that they're delayed in their language and that they may have stereotyped or repetitive behaviours. So very much the diagnosis is based on clinical observation at this point in time. Now as you rightly point out it is clear that there is a genetic component to this disorder. It runs in families. Those twins that are monozygotic have a high concordance, which means that if one twin has the disorder there's a high likelihood that the co-twin is also affected. This means that we should be able to examine the genetics of this disorder and see if we can come up with a test if you like that might help us in our clinical diagnosis.

SHANE HUNTINGTON You mentioned we can look at children as young as three. It would seem difficult that you'd be able to extract the sort of behavioural anomalies that you're talking about at that age, given the wide variety of developmental speeds that we find out kids growing up with. Now some kids learn language very quick, others don't. How successful is it in terms of determining if a child is positive at age three?

CHRISTOS PANTELIS Again a very good and I think the important thing here is that one needs to take account of the trajectory of development of any individual child. And often clinicians looking at these children will assess them over a lengthy period of time. The diagnosis might be suspected but may not be confirmed for a considerable period of time, perhaps a number of years. It depends on the severity of the presentation, the range of symptoms and how they're developing.

SHANE HUNTINGTON You mentioned the possibility of genetic testing. It would seem that we have a genetic test for every second illness at the moment. There are a lot of new ones around, the most commonly known ones such as those for breast cancer and so forth. There is definitely a genetic component to this as you say from twin studies. Why is it that we don't have a genetics test at this point for autism?

Read more:
Screening along the spectrum: The search for a genetic test for autism