Epilessia mioclono-astatica (epilessia con crisi mioclono-atoniche): Caratteristiche elettro-cliniche e neuropsicologiche in 17 pazienti

Translated title of the contribution: Myoclonic Astatic Epilepsy (epilepsy with myoclonic atonic seizures): Electro-clinical and neuropsychological findings in 17 cases

Research output: Contribution to journalArticle

Abstract

Purpose: Myoclonic-astatic epilepsy (MAE) is a generalized epileptic syndrome of childhood with an unknown etiology with a variable evolution. The aim of this study is to analyze the clinical and neuropsychological characteristics of patients with MAE and evaluate the long-term outcome. Methods: We retrospectively reviewed all patients with a diagnose of MAE with onset between 2000 and 2008 who fulfilled the following criterias: 1) normal development before the onset; 2) presence of myoclonic-astatic seizures; 3) onset between 18 months and 60 months of age; 4) periodic follow-up. 17 patients were included and all of them were called for a neurologic and a neuropsychological evaluation. Results: Mean follow-up was 5.3 ± 2.7 years. Mean age at onset was 3.6 ± 0.7 years. Epilepsy remitted in 16 out 17 patients; one patient continues to have seizures at the age of 7.2 years. Remission occurred 47.1% of patients within the first year. Myoclonic-astatic seizures occurred in all patients, tonic-clonic in 76.5%; absences in 82.3%, myoclonic jerks in 64.7%, tonic seizures in 35. 3%. 11.8% had a Minor Motor Status. Interictal EEG showed in 88.2% patients a slow background activity. All patients had diffuse epileptic abnormalities at the onset activating during sleep. Slow abnormalities were present in 76.5%. Six patients had an epileptic encephalopathy at the onset. Cognitive evaluation revealed a mild cognitive delay in 5 patients. The behavior scale did not show pathological findings but only mild attention deficit and hyperactivity. All patients were treated with valproate and only in one case it was effective. Six patients were treated with ACTH with remission of seizures in 2 of them. Conclusions: Evolution of epilepsy was favorable in 16 out 17 patients and for the cognitive outcome it was variable. About one third of patients have a mild cognitive delay. It appears not to be correlated to the intensity and duration of epilepsy, to the type of seizures and recurrence of minor motor status and ACTH treatment. The presence of the cognitive delay in patients with a favorable outcome for epilepsy suggests a genetic cause as etiology of MAE.

Original languageItalian
Pages (from-to)39-43
Number of pages5
JournalBollettino - Lega Italiana contro l'Epilessia
Issue number142
Publication statusPublished - Apr 2011

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Myoclonic Epilepsy
Seizures
Epilepsy
Adrenocorticotropic Hormone
Myoclonus

ASJC Scopus subject areas

  • Clinical Neurology

Cite this

@article{0ce783539d40462185999f672184e017,
title = "Epilessia mioclono-astatica (epilessia con crisi mioclono-atoniche): Caratteristiche elettro-cliniche e neuropsicologiche in 17 pazienti",
abstract = "Purpose: Myoclonic-astatic epilepsy (MAE) is a generalized epileptic syndrome of childhood with an unknown etiology with a variable evolution. The aim of this study is to analyze the clinical and neuropsychological characteristics of patients with MAE and evaluate the long-term outcome. Methods: We retrospectively reviewed all patients with a diagnose of MAE with onset between 2000 and 2008 who fulfilled the following criterias: 1) normal development before the onset; 2) presence of myoclonic-astatic seizures; 3) onset between 18 months and 60 months of age; 4) periodic follow-up. 17 patients were included and all of them were called for a neurologic and a neuropsychological evaluation. Results: Mean follow-up was 5.3 ± 2.7 years. Mean age at onset was 3.6 ± 0.7 years. Epilepsy remitted in 16 out 17 patients; one patient continues to have seizures at the age of 7.2 years. Remission occurred 47.1{\%} of patients within the first year. Myoclonic-astatic seizures occurred in all patients, tonic-clonic in 76.5{\%}; absences in 82.3{\%}, myoclonic jerks in 64.7{\%}, tonic seizures in 35. 3{\%}. 11.8{\%} had a Minor Motor Status. Interictal EEG showed in 88.2{\%} patients a slow background activity. All patients had diffuse epileptic abnormalities at the onset activating during sleep. Slow abnormalities were present in 76.5{\%}. Six patients had an epileptic encephalopathy at the onset. Cognitive evaluation revealed a mild cognitive delay in 5 patients. The behavior scale did not show pathological findings but only mild attention deficit and hyperactivity. All patients were treated with valproate and only in one case it was effective. Six patients were treated with ACTH with remission of seizures in 2 of them. Conclusions: Evolution of epilepsy was favorable in 16 out 17 patients and for the cognitive outcome it was variable. About one third of patients have a mild cognitive delay. It appears not to be correlated to the intensity and duration of epilepsy, to the type of seizures and recurrence of minor motor status and ACTH treatment. The presence of the cognitive delay in patients with a favorable outcome for epilepsy suggests a genetic cause as etiology of MAE.",
keywords = "Cognitive delay, EEG findings, Long term outcome, Myoclonic Astatic epilepsy",
author = "M. Trivisano and N. Specchio and S. Cappelletti and Specchio, {L. M.} and F. Vigevano and L. Fusco",
year = "2011",
month = "4",
language = "Italian",
pages = "39--43",
journal = "Bollettino - Lega Italiana contro l'Epilessia",
issn = "0394-560X",
publisher = "Lega Italiana contro l'Epilessia",
number = "142",

}

TY - JOUR

T1 - Epilessia mioclono-astatica (epilessia con crisi mioclono-atoniche)

T2 - Caratteristiche elettro-cliniche e neuropsicologiche in 17 pazienti

AU - Trivisano, M.

AU - Specchio, N.

AU - Cappelletti, S.

AU - Specchio, L. M.

AU - Vigevano, F.

AU - Fusco, L.

PY - 2011/4

Y1 - 2011/4

N2 - Purpose: Myoclonic-astatic epilepsy (MAE) is a generalized epileptic syndrome of childhood with an unknown etiology with a variable evolution. The aim of this study is to analyze the clinical and neuropsychological characteristics of patients with MAE and evaluate the long-term outcome. Methods: We retrospectively reviewed all patients with a diagnose of MAE with onset between 2000 and 2008 who fulfilled the following criterias: 1) normal development before the onset; 2) presence of myoclonic-astatic seizures; 3) onset between 18 months and 60 months of age; 4) periodic follow-up. 17 patients were included and all of them were called for a neurologic and a neuropsychological evaluation. Results: Mean follow-up was 5.3 ± 2.7 years. Mean age at onset was 3.6 ± 0.7 years. Epilepsy remitted in 16 out 17 patients; one patient continues to have seizures at the age of 7.2 years. Remission occurred 47.1% of patients within the first year. Myoclonic-astatic seizures occurred in all patients, tonic-clonic in 76.5%; absences in 82.3%, myoclonic jerks in 64.7%, tonic seizures in 35. 3%. 11.8% had a Minor Motor Status. Interictal EEG showed in 88.2% patients a slow background activity. All patients had diffuse epileptic abnormalities at the onset activating during sleep. Slow abnormalities were present in 76.5%. Six patients had an epileptic encephalopathy at the onset. Cognitive evaluation revealed a mild cognitive delay in 5 patients. The behavior scale did not show pathological findings but only mild attention deficit and hyperactivity. All patients were treated with valproate and only in one case it was effective. Six patients were treated with ACTH with remission of seizures in 2 of them. Conclusions: Evolution of epilepsy was favorable in 16 out 17 patients and for the cognitive outcome it was variable. About one third of patients have a mild cognitive delay. It appears not to be correlated to the intensity and duration of epilepsy, to the type of seizures and recurrence of minor motor status and ACTH treatment. The presence of the cognitive delay in patients with a favorable outcome for epilepsy suggests a genetic cause as etiology of MAE.

AB - Purpose: Myoclonic-astatic epilepsy (MAE) is a generalized epileptic syndrome of childhood with an unknown etiology with a variable evolution. The aim of this study is to analyze the clinical and neuropsychological characteristics of patients with MAE and evaluate the long-term outcome. Methods: We retrospectively reviewed all patients with a diagnose of MAE with onset between 2000 and 2008 who fulfilled the following criterias: 1) normal development before the onset; 2) presence of myoclonic-astatic seizures; 3) onset between 18 months and 60 months of age; 4) periodic follow-up. 17 patients were included and all of them were called for a neurologic and a neuropsychological evaluation. Results: Mean follow-up was 5.3 ± 2.7 years. Mean age at onset was 3.6 ± 0.7 years. Epilepsy remitted in 16 out 17 patients; one patient continues to have seizures at the age of 7.2 years. Remission occurred 47.1% of patients within the first year. Myoclonic-astatic seizures occurred in all patients, tonic-clonic in 76.5%; absences in 82.3%, myoclonic jerks in 64.7%, tonic seizures in 35. 3%. 11.8% had a Minor Motor Status. Interictal EEG showed in 88.2% patients a slow background activity. All patients had diffuse epileptic abnormalities at the onset activating during sleep. Slow abnormalities were present in 76.5%. Six patients had an epileptic encephalopathy at the onset. Cognitive evaluation revealed a mild cognitive delay in 5 patients. The behavior scale did not show pathological findings but only mild attention deficit and hyperactivity. All patients were treated with valproate and only in one case it was effective. Six patients were treated with ACTH with remission of seizures in 2 of them. Conclusions: Evolution of epilepsy was favorable in 16 out 17 patients and for the cognitive outcome it was variable. About one third of patients have a mild cognitive delay. It appears not to be correlated to the intensity and duration of epilepsy, to the type of seizures and recurrence of minor motor status and ACTH treatment. The presence of the cognitive delay in patients with a favorable outcome for epilepsy suggests a genetic cause as etiology of MAE.

KW - Cognitive delay

KW - EEG findings

KW - Long term outcome

KW - Myoclonic Astatic epilepsy

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SP - 39

EP - 43

JO - Bollettino - Lega Italiana contro l'Epilessia

JF - Bollettino - Lega Italiana contro l'Epilessia

SN - 0394-560X

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