Developmental and epileptic encephalopathies: From current care to future perspectives − insights from epilepsy centres in Lombardy, Italy

Purpose: Developmental and epileptic encephalopathies (DEEs) are complex diseases, requiring specialized expertise from neurologists and dedicated facilities for diagnosis and treatment. Building networks among specialized centres can improve the overall quality of care for patients with DEEs. This study aimed to evaluate the approach to DEEs in different epilepsy centres in Lombardy, Northern Italy. Methods: A panel of experts from Lombardy's epilepsy centres met in 2023 with the aim of sharing their experiences about DEEs management, specifically Lennox-Gastaut syndrome, Dravet syndrome and Tuberous Sclerosis Complex. This collaborative initiative aimed not only to compare current practices, but also to explore the potential for building stronger networks among specialized centres to improve care pathways for patients with DEEs. Following the meeting, a survey was distributed to the participants to gather quantitative data on diagnostic and treatment approaches, as well as to identify the unmet needs concerning patients with DEEs. Results: The expert panel identified several key issues in the management of DEEs: a) organizational barriers often hinder the implementation of best practices in the clinical management of DEEs; b) due to legislative limitations, the ability to prescribe specific new medications for rare diseases is granted excusively to a subset of referral centres (67%); c) the majority of the involved centres (70%) must refer DEEs patients to other facilities for epilepsy surgery; d) the management of adult patients with DEEs, especially those with psychiatric comorbidities, remains a major challenge. Conclusions: Establishing networks between different referral centres can improve and enhance DEE patients’ management.