Epilepsy in the setting of full trisomy 18

A multicenter study on 18 affected children with and without structural brain abnormalities

Sara Matricardi, Alberto Spalice, Vincenzo Salpietro, G. Di Rosa, Maria Cristina Balistreri, Salvatore Grosso, P. Parisi, Maurizio Elia, Pasquale Striano, P. Accorsi, Raffaella Cusmai, Nicola Specchio, Giangennaro Coppola, Salvatore Savasta, Marco Carotenuto, Elisabetta Tozzi, Pietro Ferrara, Martino Ruggieri, Alberto Verrotti

Research output: Contribution to journalArticle

Abstract

This paper reports on the clinical aspects, electroencephalographic (EEG) features, and neuroimaging findings in children with full trisomy 18 and associated epilepsy, and compares the evolution and outcome of their neurological phenotype. We retrospectively studied 18 patients (10 males and 8 females; aged 14 months to 9 years) with full trisomy 18 and epilepsy. All patients underwent comprehensive assessment including neuroimaging studies of the brain. We divided patients into two groups according to neuroimaging findings: (Group 1) 10 patients harboring structural brain malformations, and (Group 2) 8 patients with normal brain images. Group 1 had a significantly earlier age at seizure onset (2 months) compared to Group 2 (21 months). The seizure semiology was more severe in Group 1, who presented multiple seizure types, need for polytherapy (80% of patients), multifocal EEG abnormalities and poorer outcome (drug resistant epilepsy in 90% of patients) than Group 2 who presented a single seizure type, generalized or focal, and non-specific EEG pattern; these patients were successfully treated with monotherapy with good outcome. Imaging revealed a wide and complex spectrum of structural brain abnormalities including anomalies of the commissures, cerebellar malformations, cortical abnormalities, and various degrees of cortical atrophy. Epilepsy in full trisomy 18 may develop during the first months of life and can be associated with structural brain malformations. Patients with brain malformations can show multiple seizure types and can frequently be resistant to therapy with antiepileptic drugs.

Original languageEnglish
JournalAmerican Journal of Medical Genetics, Part A
DOIs
Publication statusAccepted/In press - 2016

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Multicenter Studies
Epilepsy
Brain
Seizures
Neuroimaging
Trisomy 18
Age of Onset
Anticonvulsants
Atrophy
Phenotype

Keywords

  • Edwards syndrome
  • Epilepsy
  • Outcome
  • Structural brain malformations
  • Trisomy 18

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Epilepsy in the setting of full trisomy 18 : A multicenter study on 18 affected children with and without structural brain abnormalities. / Matricardi, Sara; Spalice, Alberto; Salpietro, Vincenzo; Di Rosa, G.; Balistreri, Maria Cristina; Grosso, Salvatore; Parisi, P.; Elia, Maurizio; Striano, Pasquale; Accorsi, P.; Cusmai, Raffaella; Specchio, Nicola; Coppola, Giangennaro; Savasta, Salvatore; Carotenuto, Marco; Tozzi, Elisabetta; Ferrara, Pietro; Ruggieri, Martino; Verrotti, Alberto.

In: American Journal of Medical Genetics, Part A, 2016.

Research output: Contribution to journalArticle

Matricardi, S, Spalice, A, Salpietro, V, Di Rosa, G, Balistreri, MC, Grosso, S, Parisi, P, Elia, M, Striano, P, Accorsi, P, Cusmai, R, Specchio, N, Coppola, G, Savasta, S, Carotenuto, M, Tozzi, E, Ferrara, P, Ruggieri, M & Verrotti, A 2016, 'Epilepsy in the setting of full trisomy 18: A multicenter study on 18 affected children with and without structural brain abnormalities', American Journal of Medical Genetics, Part A. https://doi.org/10.1002/ajmg.c.31513
Matricardi, Sara ; Spalice, Alberto ; Salpietro, Vincenzo ; Di Rosa, G. ; Balistreri, Maria Cristina ; Grosso, Salvatore ; Parisi, P. ; Elia, Maurizio ; Striano, Pasquale ; Accorsi, P. ; Cusmai, Raffaella ; Specchio, Nicola ; Coppola, Giangennaro ; Savasta, Salvatore ; Carotenuto, Marco ; Tozzi, Elisabetta ; Ferrara, Pietro ; Ruggieri, Martino ; Verrotti, Alberto. / Epilepsy in the setting of full trisomy 18 : A multicenter study on 18 affected children with and without structural brain abnormalities. In: American Journal of Medical Genetics, Part A. 2016.
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AU - Grosso, Salvatore

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AU - Elia, Maurizio

AU - Striano, Pasquale

AU - Accorsi, P.

AU - Cusmai, Raffaella

AU - Specchio, Nicola

AU - Coppola, Giangennaro

AU - Savasta, Salvatore

AU - Carotenuto, Marco

AU - Tozzi, Elisabetta

AU - Ferrara, Pietro

AU - Ruggieri, Martino

AU - Verrotti, Alberto

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