Reach Out, April 2016, isue 103

Personal Stories
New TSC Research at the Royal
Children’s Hospital (RCH) in Melbourne
The DOTS study is investigating
developmental
outcomes in children with
Tuberous Sclerosis Complex
(TSC). ‘Developmental
Outcomes’ include thinking
skills, speech and language
skills, social skills, learning,
behaviour and movement.
It is known that some but
not all children with TSC
experience difficulties in
these areas.
Tuberous Sclerosis
Dr Rebecca Mitchell
Complex International
recently highlighted the need for better developmental care for
children with TSC and increased research to learn more about
how to best deliver this care to children and their families.
One of the specific developmental difficulties people with
TSC may have is that of autism spectrum disorder (ASD). ASD is
a complex condition. There are differences in the ‘type’ of ASD
that people with TSC have, compared to people who have only
ASD. ASD may affect up to half of people with TSC and affects
boys and girls equally.
In this study we want to find out:
• What are the risk factors for developing ASD in TSC, and
how do these risk factors contribute to the development of
ASD with TSC?
• What are the particular developmental characteristics of
people with ASD who also have TSC?
• A better understanding of developmental difficulties in
TSC will allow better and more targeted care for children
with TSC, which we hope will ultimately improve developmental
outcomes.
We hope up to 100 Victorian children, with TSC, aged between
2 and 16 years old will take part.
Children do not need to have developmental problems to
participate in this study.
Enrolled participants will undergo a
range of developmental assessments
and these will be analysed with
medical investigations previously
undertaken as part of
their routine care, such as
EEG studies, brain MRIs and
TSC gene testing results.
This research is being
conducted as part of a PhD
being undertaken by Dr Rebecca
Mitchell, a Developmental
Paediatrician, in association with
Professor Katrina Williams (RCH
Head of Department of Developmental
For further
information about the
study please contact:
Dr Rebecca Mitchell
Developmental Medicine, The Royal
Children’s Hospital,
Flemington Road Parkville
9345 5898
bec.mitchell@rch.org.au
Medicine) and Dr Simon Harvey (RCH Director of The Children’s
Epilepsy Program).
Melbourne family raises
thousands for TSC Research
The DOTS project is being partly funded by the tireless work of the Romios family.
Their son Kris has TSC and ever since his diagnosis they have been raising money
for TSC research at the Royal Children’s Hospital in Melbourne.
After raising $30,000 to support a study into epilepsy surgery in TSC in 2013, the
family and their network are now aiming to raise another $30,000 for the DOTS study.
They are already past the $20,000 mark – can you help them reach their goal?
Go to: https://rchf-fundraising.everydayhero.com/au/kristian
Kon and Kris
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