Improving healthcare for Tuberous Sclerosis Complex (TSC): updated international consensus recommendations for diagnosis, surveillance and management of TSC and real-world implementation

ICNC2024
Symposia: Managing The Complexities of TSC - From mTOR Inhibition and CBD To Technology

Improving healthcare for Tuberous Sclerosis Complex (TSC): updated international consensus recommendations for diagnosis, surveillance and management of TSC and real-world implementation
Anna Jansen

Tuberous sclerosis complex (TSC) is a rare genetic disorder that affects all organ systems and has a significant impact on quality of life. To optimize care, international consensus recommendations were developed and published in 2013 and updated in 2021. The recommendations provide a framework for the optimal management of individuals with TSC and their families across the lifespan, from recent diagnosis to ongoing surveillance and management. In this presentation we will focus on recommendations for the neurological aspects of TSC in a multidisciplinary, holistic context.
In an effort to translate the international recommendations into real-world implementation actions, Tuberous Sclerosis Complex International (TSCi), a consortium of organizations that supports people with TSC worldwide, developed the Improving Care Project. They identified the need to better understand existing resources, what people and caregivers value in TSC care, key gaps between need and reality, and ways in which these gaps can be addressed by advocacy organizations worldwide. Three priority areas for action were identified: (1) implementation of the guidelines; (2) access to TSC expertise; and (3) health care coordination and integration. We will discuss how working with different stakeholders including patient advocacy groups ensures that advances in TSC research benefit people living with TSC worldwide. This approach can serve as potential model for other neurodevelopmental disorders.

Other Lectures in this symposium
New Developments in the Treatment of TSC-related Epilepsy and TSC-Associated Neuropsychiatric Disorders

International consensus recommendations for the identification and treatment of TSC-Associated Neuropsychiatric Disorders (TAND)

Empowering Families Through Technology: a Mobile-Health Project to Reduce the TAND Identification and Treatment Gap (TANDem)