In this first Research Round Up for 2021 we are delighted to feature three significant studies which Australian-based researchers have undertaken. We thank both the healthcare professional teams who undertook this research and of course all the families and individuals who participated in the studies.
We’d also like to acknowledge that the study looking at factors associated with autism spectrum disorder in children with TSC was done as part of a PhD which was very generously supported by the Romios family’s extraordinary fundraising efforts. We are extremely grateful for their support and hope this study will advance the developmental care of children with TSC.
Prevention of epilepsy in infants with TSC in the EPISTOP trial
Epilepsy develops in 70-90% of children with TSC and it is often resistant to medication. This study investigated the potential benefits of early (preventive) treatment with vigabatrin to prevent TSC-related seizures. See https://tsa.org.au/prevention-of-epilepsy-in-infants-with-tsc-in-the-epistop-trial/
Add-on Cannabidiol treatment for drug-resistant seizures in TSC
Cannabidiol (CBD) is approved as Epidyolex in Australia. The aim of this randomised clinical trial of 224 patients with TSC was to look at whether the addition of CBD to other epilepsy medications was successful in reducing the number of seizures associated with TSC. See https://tsa.org.au/add-on-cannabidiol-treatment-for-drug-resistant-seizures-in-tsc/
Factors associated with autism spectrum disorder (ASD) in children with TSC
Up to 40-50% of people with TSC have ASD. Understanding the factors that may determine ASD risk allows professionals caring for children with TSC to be on the look-out for early signs of difficulty and helps guide researchers looking for treatments that may improve outcomes. The aim of this ‘systemic review and meta-analysis’ was to summarise the results of all available research addressing the factors associated with the development of ASD in children with TSC. See https://tsa.org.au/factors-associated-with-autism-spectrum-disorder-asd-in-children-with-tsc-a-systematic-review-and-meta-analysis/
This information is intended to provide some insights into recent TSC-related research. It is not intended to, and it should not, constitute medical or other advice. Readers are warned not to take any action without first seeking medical advice.
Citations (and links where possible) to the full research articles/papers are included for those who would like to know more. TSA’s nurse service is also available and offers a free, confidential information and support service which provides TSC information and links to practical support. You can contact Kim, the TSA nurse, by phoning 1300 733 435, emailing [email protected] or visiting https://tsa.org.au/tsa-nurse/