Autism Research Team
Professor Katrina Williams
+61 3 9345 5898
The Autism Research Team is a multi organisational research group based at Melbourne Children’s Campus with a mission to improve understanding of autism in specialised specific populations and work towards improved personalised care, services, and supports for children and adolescents with autism and their families.
We have two research streams:
1. Discovery research to explore causal pathways of autism in specialised populations
- Understanding the causes of loss of skills in autism
Autism is a neurodevelopmental disorder of social-communication and restricted/repetitive behaviours. One subgroup of children show typical development before losing skills, known as autistic regression, and then being diagnosed with autism. Although this onset of autism is well described, little is known about the sequence of skill loss, the biological mechanisms that produce it, and best practice for care once identified. The aim of this study is to recruit children who lose skills on the path to developing autism. Each child will participate in best practice clinical investigation, including one year follow-up assessment. Possible prognostic factors will be explored for individuals, and the group as a whole, and compared to prognostic factors for children with autism without regression. Parents and children will also be invited to contribute biosamples for future discovery investigations into understanding the cause(s) of skill loss.
Contact: Dr Veronica Rose
- UNIQUE Autism: understanding differences between twins
In this research area we are exploring possible causes of autism and the role of the environment, genes and how genes behave. Identical twins with autism are rare and offer a unique opportunity to gain further knowledge about potential causes of autism. Contact: Dr Alexandra Ure
- Known genetic conditions:
Autism Spectrum Disorder in Children with Tuberous Sclerosis Complex: Understanding neurobiological pathways and phenotype:
Tuberous Sclerosis Complex (TSC) is a genetic disorder, occurring in 1:6000 live births. It leads to non-cancerous growths throughout the body, especially in the brain, and is associated with seizures and high rates of intellectual disability and ASD.
The main aims of the project are to investigate (1) the clinical risk factors (like seizures, physical brain changes, gene changes and individual characteristics of each child) in the development of ASD in TSC, (2) to understand how these risk factors interact, (3) to use this knowledge to consider biological pathways that may cause ASD and (4) to understand what the ‘phenotype’, that is the ‘type’ of autism, that children with TSC have. These questions are being answered in two ways.
Firstly, a systematic review with an analysis of all existing published data is being undertaken to establish what is already known. The protocol for this review has been published and can be found at http://rdcu.be/pUkK . This type of approach is especially important in conditions like TSC, which are relatively rare, and published studies from individual research groups are often small. Pooling the data together allows us to draw much more robust conclusions. This review is nearing completion, and at this stage involves 40 published studies, including 2693 children from around the world with TSC.
Secondly, a clinical project, The Developmental Outcomes in Tuberous Sclerosis Complex (The DOTs Study) is currently running and aims to recruit Victorian children with TSC to investigate their clinical risk factors and developmental outcomes. It will provide information about clinical factors that are associated with ASD and a very detailed picture of developmental outcomes in children with TSC, to enable us to provide better, and more targeted care.
The project has been generously supported by the RCH foundation with funds raised through the efforts of the Romios family.
Contact: Dr Rebecca Mitchell
2 Evaluating and improving best care for children and adolescents with autism and their families
Referrals of transgender children and adolescents for medical care have been increasing exponentially across the Western world. Like the field itself, research into transgender health is in early development, and there is limited empirical data to inform best practice with regards to long-term outcomes. Those diagnosed with gender dysphoria (the distress that arises when a person’s birth-assigned gender does not match their inner gender identity) are a highly vulnerable group, with evidence of high levels of psychiatric co-morbidities such as depression, anxiety, eating disorders and attempted suicide. In addition, transgender children and adolescents are at elevated risk of social difficulties, school refusal and experiencing bullying and discrimination.
Although research is limited, there is growing evidence to suggest there is a far higher prevalence of autism spectrum disorder in children with gender dysphoria compared to the general population. In addition, clinicians who work with children with autism and other neurodevelopmental disorders are increasingly encountering concerns around gender identity in their client groups. In conjunction with the RCH Gender Service, the aim of this research program is to build a foundation for research into the overlap between autism and gender dysphoria, and ultimately provide valuable information that directly assists efforts to improve health care by:
- ensuring that future management is based on strong empirical evidence, and
- enabling clinicians to provide accurate information to patients and families, and therefore assist decision making processes.
- Evaluating and improving care for children with autism and their families
- Project 1:
A high fidelity, simulation training program for health professionals focussing on managing challenging behaviours of children and young people with neurodisability.
The purpose of this study is to design, implement and evaluate a simulation training program for health professionals which enables high fidelity, real time training with simulated patients who have a neurodisability and exhibit challenging behaviours while accessing hospital services. This approach is well utilised in adult populations to provide immersive, real time training in conjunction with facilitated debriefing with trained simulation facilitators. This type of training is new and innovative in the field of paediatrics. The primary aim is to improve the quality of care children receive while accessing hospital services by a reduction in aggressive episodes in hospital requiring emergency management, less complaints and less need for physical and chemical restraint. The project commenced April 2017 and thesis will be submitted by end of 2020.
Contact: Ms Marijke Mitchell
- Project 2:
Light before the end of the tunnel? Understanding and supporting children and families on the path to assessment for Autism Spectrum Disorder (ASD)
Time spent waiting for a child’s diagnostic assessment can be a particularly stressful period for carers and families. This study aims to understand factors influencing service outcomes along the pathway to autism diagnosis in young children. It will also explore the support the needs of families whilst waiting for autism assessment. After looking at existing information regarding referral and assessment pathways, we will invite families recently referred to two assessment centres in Victoria, to participate in a trial intervention. We want to find out if a small number of coaching sessions, carried out by a clinician with knowledge of autism spectrum disorders, will assist families as they wait for their child to be assessed. In particular, we are investigating whether asking families about their goals, then addressing their goals through parent-carer coaching, is a reasonable and needed service for families in this waiting period.
Contact: Ms Charmaine Bernie
- Project 1:
- Participation and quality of life for children and adolescents with autism
A cross-sectional study of 39 adolescents with autism spectrum disorder (ASD) without intellectual disability explored associations between domains of the International Classification of Functioning, Disability and Health and self-reported quality of life. Univariate analyses followed by multivariate models were used. Results support previous findings of no association between ASD symptoms and activities (adaptive behaviour) or participation. Difficulties with executive functioning and mental health symptoms were associated with activities, and child and parent mental health symptoms were associated with quality of life.
Contact: Francesca Lami
- Understanding the impact of autism in the community; establishing and using existing databases to understand incidence, prevalence and diagnostic trends
The reported prevalence of ASD has increased over the past four decades. We are exploring autism incidence and prevalence in Australia using health, welfare, education and research data and understanding factors that may influence autism prevalence in this part of the world. This includes utilising data from specific regions in Australia such as the Barwon and Melton areas of Victoria (through the Victorian Collaborative Autism Study and Melton Developmental Differences Database), as well as Australia wide data derived from the Longitudinal Study of Australian Children and government health, welfare and education data.
Contact: Dr Alexandra Ure
- Professor Katrina Williams, APEX Australia Chair of Developmental Medicine, Paediatrician and Public Health Physician
- Dr Alexandra Ure, Lorenzo and Pamela Galli Postdoctoral Fellow, Autism Research Team Leader & Senior Clinical Psychologist
- Dr Carmen Pace, Lorenzo and Pamela Galli Postdoctoral Fellow & Clinical Psychologist
- Dr Veronica Rose, Integrative Fellow & Speech Pathologist
- Dr Jason Wasiak, Research Fellow in Systematic Reviews & Nurse
- Ms Francesca Lami, PhD student
- Ms Charmaine Bernie, PhD student & Occupational Therapist
- Dr Rebecca Mitchell, PhD student & Paediatrician
- Ms Marijke Mitchell, PhD student & Nurse
We collaborate with a range of different groups including those from the Royal Children's Hospital Melbourne, Murdoch Childrens Research Institute, University of Melbourne, Deakin University, Djerriwarrh Health Services (DjHS) Melton, and the Living with Autism Cooperative Research Centre.
We are funded through the NHMRC, ARC and various philanthropic organisations.
- Gender differences in autism
- Undestanding trajectories and biological underpinnings of children with autism who lose skills
- Discovering differences and similarities between phenotype and biology of twins with autism and children with known genetic problems with a high risk of autism
- Using systematic reviews to understand prognosis, diagnosis and effective interventions for children with neurodevelopmental difference and disability
- Understanding the outcomes, including their language, participation and quality of life, of children with autism
- Incidence, prevalence and risk factors for autism. What can we learn from databases and existing administrative data?
Faculty Research Themes
School Research Themes
For further information about this research, please contact Laboratory Head Professor Katrina Williams
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