EEC 2026 | Early diagnosis and multidisciplinary care in developmental and epileptic encephalopathies
Nicola Specchio, MD, PhD, Bambino Gesù Children’s Hospital, Rome, Italy, comments on the importance of early diagnosis in developmental and epileptic encephalopathies (DEEs) and the need for a multidisciplinary team approach to manage the condition. Prof. Specchio highlights that a timely diagnosis allows for personalized management plans, incorporating a range of healthcare specialists to provide holistic care for patients with DEEs. This interview is part of our virtual coverage of the 16th European Epilepsy Congress (EEC), which took place in Athens, Greece.
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Transcript
Early diagnosis in DEE is definitely one of the goals of our clinical activity. As soon as we do see a patient starting with epilepsy in the first few years of life, together with the presence of other symptoms, together with seizures like intellectual disability, behavioral disorders, attention deficit or other non-seizure symptoms, we can think about the possibility of having patients affected by developmental and epileptic encephalopathy...
Early diagnosis in DEE is definitely one of the goals of our clinical activity. As soon as we do see a patient starting with epilepsy in the first few years of life, together with the presence of other symptoms, together with seizures like intellectual disability, behavioral disorders, attention deficit or other non-seizure symptoms, we can think about the possibility of having patients affected by developmental and epileptic encephalopathy. Together with non-seizure symptoms, of course, those patients, they have to present an amount of EEG abnormalities and seizures and high-frequency seizures. This is exactly the point of the concept of DEE when you have one etiology which is responsible for both EEG, epileptic form abnormalities and seizures, and on the other side, responsible for the other symptoms, like, as I just mentioned, like intellectual disability. Why is it so important to have an early diagnosis? This is because the management should be designed around a single patient and around a single family. And what is definitely helping design a proper management is the possibility to build and to structure a multidisciplinary team around a single patient. What would I like to say with a multidisciplinary team? So neurologists should be supported by other healthcare providers, including neurophysiologists, including geneticists, speech specialists, GI specialists, and other neurorehabilitators and other healthcare providers based on the type of symptoms that are presented by the given child. The future for good management for those patients is trying to create what we call DEE clinics, in which the patient can be followed up and when the patient accesses the hospital, he or she may find a number of specialists which can take care of the full clinical picture. So we’re trying to treat them with a holistic view rather than just looking at a specific and different part of the disease.
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Disclosures
NS has served on scientific advisory boards for GW Pharma, BioMarin, Arvelle, Marinus and Takeda; has received speaker honoraria from Eisai, Biomarin, Livanova, Sanofi; has served as an investigator for Zogenix, Marinus, Biomarin, UCB, Roche; the remaining authors have no conflicts of interest.
