Problem: Tuberous Sclerosis Complex (TSC) is an autosomal dominant genetic disorder affecting 1 in 5800 individuals. TSC is a multisystem disorder and is also associated with a range of learning, behavioural, neurodevelopmental and psychiatric difficulties, known as TAND (TSC-Associated Neuropsychiatric Disorders). Given the seemingly uniqueness of each individual’s TAND, diagnosis and treatment can be extremely complex.
Project: In order to address the perceived overwhelming uniqueness (which leads to treatment paralysis), this project sets out to identify natural clusters of TAND (combinations of behaviours across multi-dimensional levels including age and ability) that will simplify further evaluations and treatment. The study will be performed in three phases using a mixed-methods approach over a period of 36 months. Findings from the study will be used in the development of a TAND toolkit to assist clinicians and families/individuals with TSC in early identification of TAND; effective management of clinical, psychological and social needs; as well as treatment options. This project will be of direct relevance to families and could have a significant impact on those who live with TSC. Apart from the direct impact of the Toolkit, TAND cluster analysis may generate novel hypotheses regarding neuropsychiatric phenomena in TSC to be explored in future studies.