Electroclinical findings and long-term outcomes in epileptic patients with inv dup (15).

P De Liso, A Verrotti, S Savasta, P Striano, D Pruna, P Pavone, M Carotenuto, D Concolino, T Granata, F Ragona, A Romeo, S Matricardi, R Cusmai, P Accorsi, L Giordano, M Elia, B Dalla Bernardina, E Fontana, C Basti, A Spalice, F Darra

Journal: Acta neurologica Scandinavica 2018;137(6):575-581

PMID: 29363096

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Abstract

OBJECTIVE

To define the electroclinical phenotype and long-term outcomes in a cohort of patients with inv dup (15) syndrome.

MATERIAL AND METHODS

The electroclinical data of 45 patients (25 males) affected by inv dup (15) and seizures were retrospectively analysed, and long-term follow-up of epilepsy was evaluated.

RESULTS

Epilepsy onset was marked by generalized seizures in 53% of patients, epileptic spasms in 51%, focal seizures in 26%, atypical absences in 11% and epileptic falls in 9%. The epileptic syndromes defined were: generalized epilepsy (26.7%), focal epilepsy (22.3%), epileptic encephalopathy with epileptic spasms as the only seizure type (17.7%) and Lennox-Gastaut syndrome (33.3%). Drug-resistant epilepsy was detected in 55.5% of patients. There was a significant higher prevalence of seizure-free patients in those with seizure onset after the age of 5 years and with focal epilepsy, with respect to those with earlier epilepsy onset because most of these later developed an epileptic encephalopathy (69.2% vs 34.4%; P = .03), usually Lennox-Gastaut Syndrome in type. In fact, among patients with early-onset epilepsy, those presenting with epileptic spasms as the only seizure type associated with classical hypsarrhythmia achieved seizure freedom (P < .001) compared to patients with spasms and other seizure types associated with modified hypsarrhythmia.

CONCLUSIONS

Epilepsy in inv dup (15) leads to a more severe burden of disease. Frequently, these patients show drug resistance, in particular when epilepsy onset is before the age of five and features epileptic encephalopathy.

Address: Department of Neuropsychiatry, Children's Hospital "G.Salesi", Ospedali Riuniti, Ancona, Italy.; Department of Life and Reproduction Sciences, University of Verona, Verona, Italy.; Department of Pediatrics, Division of Child Neurology, Sapienza, University of Rome, Rome, Italy.; Department of Pediatrics, University of L'Aquila, L'Aquila, Italy.; Unit of Neurology and Clinical Neurophysiopathology, Oasi Institute for Research on Mental Retardation and Brain Aging (IRCCS), Troina (EN), Italy.; Department of Child and Adolescent Neuropsychiatry, Ospedali Civili, Brescia, Italy.; Child Neurology Unit, Department of Neuroscience and Neurorehabilitation, "Bambino Gesù" Children's Hospital, IRCCS, Rome, Italy.; Department of Neuroscience, Pediatric Neurology Unit and Epilepsy Center, "Fatebenefratelli e Oftalmico" Hospital, Milan, Italy.; Department of Pediatric Neuroscience, Foundation I.R.C.C.S. Neurological Institute ''C. Besta'', Milan, Italy.; Department of Medical and Surgical Sciences, Pediatric Unit, Magna Graecia University, Catanzaro, Italy.; Department of Mental Health, Physical and Preventive Medicine, Clinic of Child and Adolescent Neuropsychiatry, Università degli Studi della Campania "Luigi Vanvitelli", Naples, Italy.; General and Emergency Paediatrics Operative Unit, Policlinico-Vittorio Emanuele University Hospital, University of Catania, Catania, Italy.; Epilepsy Unit, A. Cao Hospital, Cagliari, Italy.; Pediatric Neurology and Muscular Diseases Unit, Department of Neurosciences, Rehabilitation, Opthalmology, Genetics and Maternal and Child Health, G. Gaslini Institute, University of Genova, Genova, Italy.; Department of Pediatrics, University of Pavia, Pavia, Italy.

DOI: 10.1111/ane.12902

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MeSH Terms: Adolescent, Child, Chromosome Disorders, Chromosomes, Human, Pair 15, Cohort Studies, Electroencephalography, Epilepsy, Female, Humans, Male, Retrospective Studies, Seizures, Time Factors, Treatment Outcome