Early Development in Tuberous Sclerosis (EDiTS)
Research type
Research Study
Full title
Developing a protocol to measure the developmental trajectory of infants with Tuberous Sclerosis Complex
IRAS ID
168272
Contact name
Patrick Bolton
Contact email
Sponsor organisation
King's College London
Duration of Study in the UK
2 years, 11 months, 31 days
Research summary
Tuberous Sclerosis Complex (TSC) is a rare genetic disorder associated with a high rate of epilepsy, intellectual disability, autism and hyperactivity. The neurobiological mechanisms underlying the variable developmental outcome of individuals with TSC are poorly understood. Previous studies have indicated associations between certain risk factors (e.g. seizure severity) and cognitive development, but these findings are limited by reliance on parental report or the use of non-standardized or infrequently repeated measures of general cognitive domains. The design of an assessment protocol to measure developmental trajectory from infancy is important in order to allow a systematic test of the cognitive correlates and risk factors that precede changes in behavior.
This project aims to design, develop and test a unique state-of-the-art lab- and home-based protocol to measure cognitive development that is tailored to the TSC population. We will recruit and test 25 infants with TS and 25 typically developing controls from birth to 24 months of age over multiple time points to sufficiently measure fluctuating changes in development, in an accelerated longitudinal design. We will exploit technological advances that allow eye-tracking measures to be implemented at home as well as the laboratory. Participants will attend the Centre for Brain and Cognitive Development, Birkbeck, for lab-based assessments. In addition to developmental changes, we will also measure acceptability and feasibility of procedures. This study will provide important outcomes for monitoring and evaluating novel treatments in TSC, and for conducting a larger longitudinal study.
The EDiTS study uses the same approach as our ongoing studies of high-risk infants (e.g. STAARS, ACTI-ADHD) and will utilise the resources of the established BASIS networks.
REC name
London - Camden & Kings Cross Research Ethics Committee
REC reference
15/LO/1949
Date of REC Opinion
12 Jan 2016
REC opinion
Further Information Favourable Opinion