Background

Every month around 10 babies are born in the UK with TSC. An estimated 1 million people world-wide have TSC. Some will be diagnosed with TSC very early in life whilst others may not be diagnosed until later childhood, adolescence or adulthood.

TSC is associated with variable outcomes in later childhood, including problems in social communication (e.g. autism spectrum disorder), attention (e.g. attention deficit hyperactivity disorder) and cognitive ability (e.g. intellectual disability).

Despite a large body of research on TSC, there is very limited data on long-term follow up and the natural history of tuberous sclerosis in cases presenting in childhood is not particularly well defined.

The Tuberous Sclerosis 2000 Study is the first formal comprehensive longitudinal study to be carried out. Children aged 0–16 years were recruited as soon as possible after diagnosis so that good quality data on early seizure history and development could be collected in order to investigate the determinants of intellectual, cognitive and neuropsychiatric outcome.

Research So Far

Check out our new TS2000 video detailing what has happened so far in the TS2000 Study, how it can help those with TSC and what we are looking to achieve in phase 4 of our study.

Phase 1 (2001-2005)

One hundred and twenty-five UK children age 0–16 years with TSC and born between January 2001 and December 2006 were recruited. Medical examinations, genotyping, and assessments of epilepsy and intellectual abilities were conducted and analysed.

Phase 2 (2013-2015)

Phase 3 (2015-2017)

Phase 4 (2023-2025)

In phase 2, at an average of 8 years later, 88 participants from the phase 1 cohort were recruited along with 35 unaffected siblings.

In phase 3, 48 participants from the original cohort were recruited to visit our research centre in London. EEG recordings and follow up assessments of intellectual ability, epilepsy and symptoms of ASD and ADHD were completed. Participants were aged 10–28 years.

The individuals with TSC who have participated so far in the project have now reached young adulthood. We know that young adulthood is a key transition period, and we want to gather information on what young adults with TSC everyday experiences are like. We want to see whether a new type of smartphone monitoring can help monitor and assess young adults with TSC social well-being and quality of life.

First, we will invite young adults with TSC to participate in online focus groups and interviews to talk about what they use smartphones for and how we might be able to use them to monitor their everyday experiences. We hope to hear from the young adults what they want to have monitored and what support they will need to use this type of monitoring.

In 2024, we will invite young adults with TSC to a new phase where we will use a new smartphone app to monitor their everyday experiences over a number of days. We want to see whether this app is useful and acceptable to the young adult TSC community. We hope to use these findings to understand what young adults with TSC everyday experiences are and what support or interventions they may need to manage this key transition period. If you are interested in taking part, please click the button below.