A/Professor Stephanie Brown

Autism Research

‘The underpinnings of social dysfunction in autism and Williams Syndrome: from genes to brain to hormones’

Macquarie University, NSW
Awarded 2015 – 2018
Co-funded by the Rotary Club of Illawarra Sunrise, NSW

“Understanding the mechanisms that underpin social dysfunction in autism and Williams syndrome would assist in improving social abilities in these disorders, and would substantially improve the quality of life for these individuals and their families.”

Researcher Profile

Kelsie Boulton completed her undergraduate studies at Macquarie University, earning a Bachelor of Psychology (Honours) in 2013. Following her Honours year, Kelsie enrolled in Macquarie’s Master of Research degree, and authored a research thesis investigating the influence of top down cognitive processes on the social approach behaviours of typically developing individuals and individuals with Williams syndrome, for which she received a ranking in the top 5% of my cohort. Following this research degree, Kelsie was encouraged to undertake a PhD investigating the genetic, neurological and hormonal underpinnings of social functioning in autism and Williams syndrome.

Since 2012, Kelsie has worked with Dr Porter as a research assistant. During this time she has been involved in a number of projects, particularly in the field of developmental neuropsychology. This role has provided her with valuable skills and opportunities, including knowledge of neuroimaging analysis techniques, and an understanding of neuropsychological assessment administration and interpretation.

Project Summary

More than 650,000 Australians have a neurodevelopmental disorder that puts them at risk for compromised social behaviour. This can have devastating effects on their social integration, mental health and wellbeing. Understanding how this social dysfunction occurs can help us in developing treatments and interventions to improve the quality of life for these Australians.

This project aims to explore the underpinnings of social dysfunction in individuals with autism and Williams syndrome, two neurodevelopmental disorders where social functioning is gravely impacted. These syndromes provide an interesting comparison, given the extreme levels of social avoidance that are considered a hallmark of autism, and the heightened social approach and overfamiliarity that is a key characteristic of Williams syndrome.

Through collection of saliva samples, experimental tasks and brain imaging, this project will explore the genetic, hormonal and neurological underpinnings of social dysfunction. In particular, the role of oxytocin, a hormone heavily involved in social approach behaviour, that is believed to be dysfunctional in individuals with autism and Williams syndrome will be considered. The examination of oxytocin expression at the genetic level, combined with the response of specific brain networks to social threat in these syndromes will provide a novel insight as to how oxytocin affects brain functioning and social behaviour, resulting in social dysfunction.

Exploring this relationship using syndromes such as autism and Williams syndrome, which, at face value, show strikingly different social anomalies that may be related to abnormalities in both oxytocin and particular brain regions, will provide valuable information about the underlying mechanisms that influence social behaviour.

Supervisors: Dr Melanie Porter, Dr Darren Hocking & Professor Mark Williams

How will this research help people?

At a family level, the impact of raising a child with a neurodevelopmental disorder is considerable, and can have psychological, economic and social impacts. Understanding the mechanisms that underpin social dysfunction in autism and Williams syndrome would assist in improving social abilities in these disorders, and would substantially improve the quality of life for these individuals and their families.

Further, findings from this project will provide a springboard for developing innovative pharmacological treatments to significantly improve the quality of life not only for individuals with autism and Williams syndrome, but also individuals with other neurodevelopmental and mental health disorders where oxytocin has previously been implicated, such as Schizophrenia, Fragile X syndrome, social anxiety disorder and depression.