Authors :
Presenting Author: Paolo Surdi, MD – Child Neurology and Psychiatry Unit, Tor Vergata University of Rome, Rome, Italy.
Clinical and Experimental Neurology, Bambino Gesu’ Children’s Hospital IRCCS, Full Member of European Reference Network on Rare and Complex Epilepsies EpiCARE, Rome, Italy.
Marina Trivisano, MD – Clinical and Experimental Neurology – Bambino Gesu’ Children’s Hospital IRCCS, Full Member of European Reference Network on Rare and Complex Epilepsies EpiCARE, Rome, Italy; Angela De Dominicis, MD – Clinical and Experimental Neurology – Bambino Gesu’ Children’s Hospital IRCCS, Full Member of European Reference Network on Rare and Complex Epilepsies EpiCARE, Rome, Italy; Mattia Mercier, MD – Clinical and Experimental Neurology – Bambino Gesu’ Children’s Hospital IRCCS, Full Member of European Reference Network on Rare and Complex Epilepsies EpiCARE, Rome, Italy; Ludovica Maria Piscitello, MD – Clinical and Experimental Neurology – Bambino Gesu’ Children’s Hospital IRCCS, Full Member of European Reference Network on Rare and Complex Epilepsies EpiCARE, Rome, Italy; Giusy Carfì Pavia, MD – Clinical and Experimental Neurology – Bambino Gesu’ Children’s Hospital IRCCS, Full Member of European Reference Network on Rare and Complex Epilepsies EpiCARE, Rome, Italy; Elisa Musto, MD – Clinical and Experimental Neurology – Bambino Gesu’ Children’s Hospital IRCCS, Full Member of European Reference Network on Rare and Complex Epilepsies EpiCARE, Rome, Italy; Nicola Pietrafusa, MD – Clinical and Experimental Neurology – Bambino Gesu’ Children’s Hospital IRCCS, Full Member of European Reference Network on Rare and Complex Epilepsies EpiCARE, Rome, Italy; Nicola Specchio, MD, PhD – Clinical and Experimental Neurology – Bambino Gesu’ Children’s Hospital IRCCS, Full Member of European Reference Network on Rare and Complex Epilepsies EpiCARE, Rome, Italy
Rationale:
Developmental and Epileptic Encephalopathies (DEEs) are neurological disorders characterized by developmental impairment and epilepsy, with effect on cognitive, motor, and behavioral functions. The clinical progression in DEEs can be highly variable, ranging from stable courses to progressive neurological deterioration. Our study aims to assess clinical progression by comparing clinical characteristics, EEG, neuropsychological and neuroimaging data from seizure onset to the last follow-up evaluation.
Methods:
We retrospectively reviewed patients with a genetic diagnosis of DEEs followed-up at the Epilepsy Unit of Bambino Gesù Children’s Hospital, Rome, Italy. Information regarding sex, genetic variant, age at onset and age at last follow-up, neurologic status, EEG background activity, interictal epileptiform abnormalities, ictal EEG, brain MRI and cognitive functions were collected and analyzed using the paired samples Wilcoxon test (α = 5%). EEG background activity was categorized into: normal, mild or poorly organized, discontinuous. Epileptiform abnormalities were classified as focal, multifocal, generalized, presence of hypsarrhythmia and/or burst-suppression. The ictal EEG patterns were grouped into focal, generalized or epileptic spasms. Cognitive evaluations were categorized based on intelligence quotient. In addition, we investigated at last follow-up the presence of drug-resistance, occurrence of status epilepticus, movement disorders, neurological signs, behavioral problems and/or autism spectrum disorder.
Results:
A total number of 162 patients (67 males, 95 females) were included. The most frequent genetic variants identified were SCN1A, SCN2A, SCN8A, PCDH19, KCNQ2, STXBP1, WWOX, KCNB1, CDH2, CDKL5. The median age at seizure onset and the last follow-up was 0.38 (IQR: 0.09-0.75) and 8.54 (IQR: 4.29-14.40), respectively. Family history of epilepsy was positive in 14,2% of patients and 60.49% exhibited abnormal neurological examination at seizure onset. We documented a statistically significant difference in EEG background activity (predominance of poorly organized activity, p = 0.05), cognitive impairment (higher prevalence of severe intellectual disability, p < 0.001) and progressive changes on MRI (cortical or subcortical atrophy, p < 0.001). At the last follow-up, high prevalence rates were observed for drug resistance (82.10%), movement disorders (60.49%), behavioral problems and autism spectrum disorder (45.06%), neurological signs (30.86%) and status epilepticus (22.84%).