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Australian research into TSC and autism continues

Dr Bec Mitchell continues her valuable work on the DOTS* study that is increasing our knowledge of the risk factors for autism in children with TSC and of possible interventions for children at risk of autism. Dr Mitchell is a developmental paediatrician at Royal Children’s Hospital in Melbourne and is working with Dr Simon Harvey and Dr Katrina Williams.

Dr Mitchell has completed an analysis of existing work in this area to understand what we can learn by combining results of multiple small studies. For example, are children who have seizures more likely to be later diagnosed with autism? Does a higher number of tubers in a child’s brain increase the child’s risk of autism? Do the genetic changes in TSC1 or TSC2 mean a child is more likely to develop autism?

Understanding which children with TSC are at greatest risk of autism may help these children access earlier interventions such as parent coaching and speech and language interventions. We may also learn more about whether there are specific interventions for these children that can reduce their developmental delays or their risk of autism.

More than 30 children have been through detailed developmental assessments and reviews as part of this project. We are grateful to the families who have taken the time to be a part of this. Thank you to the Romios family for fundraising for this project in honour of their son Kristian and also to the University of Melbourne for funding this PhD through the Leslie Eric Paddle Scholarship for Dr Mitchell.

We look forward to sharing more about Dr Mitchell’s work as it is published.

Watch Dr Mitchell talk about this study and early development in children with TSC at our 2017 Melbourne education event

* Developmental outcomes of children with tuberous sclerosis

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