Pediatric tuberous sclerosis complex: assessment of multidisciplinary follow-up in an expert center

Tuberous sclerosis complex (TSC) is a rare autosomal dominant multi-systemic disease, leading to excessive cell proliferation and the formation of hamartomas affecting various organs. International and French national guidelines emphasize the need for regular follow-up by different specialists with regular clinical evaluation, and biological and imaging investigations. This study aims to assess patient follow-up, its cost, and its adherence to the French National follow-up recommendations since the establishment of the day-hospital program tailored for pediatric patients with TSC.

Clinical and follow-up data were collected among 81 patients, aged from 3 to 18 years old, from the epilepsy reference center of Necker Hospital in Paris, with a confirmed diagnosis of TSC, retrospectively from January 1st, 2021 to January 1st, 2024.

Patients had an average of 9.4 days of pathology-related follow-up events, and an average of 1.1 teleconsultation over 3 years. Patients attended 1.6 day hospital stays over the duration of follow-up. The mean annual cost per patient for consultations and hospitalizations was €1344. The level of disability significantly increases the cost of follow-up. However, home-hospital distance has no significant impact on overall follow-up costs, the number of teleconsultations, or day-hospital visits.

While paraclinical imaging and neurological follow-up were consistent with national recommendations, compliance with TSC national guidelines for specialist consultations was more challenging to implement. Our findings suggest that a mixed day hospital model, centered on neuropediatrics and incorporating additional examinations and consultations, would facilitate compliance with follow-up recommendations. Reducing patient travel and optimizing costs should be considered key objectives for improving long-term care.