[PS10] Parallel Session 10: Neuroctaneous Disorder （TS, NF1, SWS）

[PS10-2B-1] Changing outcomes in modern day tuberous sclerosis patients

^○Kate Riney^{1, 2} (1.Neurosciences Unit, Lady Cilento Children’s Hospital, Brisbane, Australia, 2.University of Queensland, Brisbane, Australia)

In recent years, there have been significant advances in the early clinical care of children with tuberous sclerosis. An approach of undertaking frequent EEG surveillance from birth to allow earlier treatment at the point of detection of certain EEG abnormalities or with onset of subtle or subclinical seizures is being studied in a multicentre collaborative prospective study, EPISTOP, to determine if epilepsy and neurodevelopmental outcomes are improved. This study will also evaluate for early clinical and molecular biomarkers of epileptogenesis in patients with tuberous sclerosis, in the hope that these biomarkers may identify earlier points of treatment for tuberous sclerosis infants. In recent years, access to earlier epilepsy surgery for children with tuberous sclerosis has been associated with beneficial outcomes. Furthermore, the role of mTOR inhibition for tuberous sclerosis-related epilepsy has been defined in controlled studies. Tuberous sclerosis multidisciplinary clinics have additional benefits for this cohort, allowing clinicians to become more experienced and confident in decision-making, allowing more aggressive preventative clinical care. This presentation will provide an overview of recent advances in the clinical care of young children with tuberous sclerosis, provide an overview of the EPISTOP study, and describe the epilepsy and neurodevelopmental outcomes in a modern day cohort of children with tuberous sclerosis.