Abstract
Prader–Willi syndrome is a multisystemic genetic disorder that can be associated with epilepsy. There is insufficient information concerning the clinical and electroencephalographic characteristics of epilepsy and the long-term outcome of these patients. The aim of this study is to describe seizure types, electroencephalographic patterns and long-term seizure outcome in Prader–Willi syndrome patients suffering from epilepsy. We retrospectively studied 38 patients with Prader–Willi syndrome and seizures. Results of neuroimaging studies were obtained for 35 individuals. We subdivided these patients into two groups: group A, 24 patients, without brain lesions; and group B, 11 patients, with brain abnormalities. All patients were re-evaluated after a period of at least 10 years. Twenty-one patients (55.2 %) were affected by generalized epilepsy and 17 patients (44.8 %) presented focal epilepsy. The most common seizure type was generalized tonic– clonic seizure. The mean age at seizure onset was 4.5 years (ranged from 1 month to 14 years). In the follow-up period, seizure freedom was achieved in 32 patients (84.2 %). Seizure freedom was associated with electroencephalographic normalization, while the six children presenting drug-resistant epilepsy showed persistence of electroencephalographic abnormalities. Group B patients showed a higher prevalence of drug-resistant epilepsy. Patients with Prader–Willi syndrome were frequently affected by generalized seizures. Most of the patients had a favorable evolution, although, patients with brain abnormalities presented a worse outcome, suggesting that the presence of these lesions can influence the response to antiepileptic therapy.
| Original language | English |
|---|---|
| Pages (from-to) | 116-123 |
| Number of pages | 8 |
| Journal | Journal of Neurology |
| Volume | 262 |
| Issue number | 1 |
| DOIs | |
| Publication status | Published - 2015 |
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Keywords
- EEG
- Epilepsy
- Long term outcome
- Prader–Willi syndrome
ASJC Scopus subject areas
- Clinical Neurology
- Neurology
Cite this
Long-term outcome of epilepsy in patients with prader–willi syndrome. / Verrotti, Alberto; Cusmai, Raffaella; Laino, Daniela; Falsaperla, Raffaele; Margari, Lucia; Rizzo, Renata; Savasta, Salvatore; Grosso, Salvatore; Striano, Pasquale; Belcastro, Vincenzo; Franzoni, Emilio; Curatolo, Paolo; Giordano, Lucio; Freri, Elena; Matricardi, Sara; Pruna, Dario; Toldo, Irene; Tozzi, Elisabetta; Lobefalo, Lucio; Operto, Francesca; Altobelli, Emma; Chiarelli, Francesco; Spalice, Alberto.
In: Journal of Neurology, Vol. 262, No. 1, 2015, p. 116-123.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Long-term outcome of epilepsy in patients with prader–willi syndrome
AU - Verrotti, Alberto
AU - Cusmai, Raffaella
AU - Laino, Daniela
AU - Falsaperla, Raffaele
AU - Margari, Lucia
AU - Rizzo, Renata
AU - Savasta, Salvatore
AU - Grosso, Salvatore
AU - Striano, Pasquale
AU - Belcastro, Vincenzo
AU - Franzoni, Emilio
AU - Curatolo, Paolo
AU - Giordano, Lucio
AU - Freri, Elena
AU - Matricardi, Sara
AU - Pruna, Dario
AU - Toldo, Irene
AU - Tozzi, Elisabetta
AU - Lobefalo, Lucio
AU - Operto, Francesca
AU - Altobelli, Emma
AU - Chiarelli, Francesco
AU - Spalice, Alberto
PY - 2015
Y1 - 2015
N2 - Prader–Willi syndrome is a multisystemic genetic disorder that can be associated with epilepsy. There is insufficient information concerning the clinical and electroencephalographic characteristics of epilepsy and the long-term outcome of these patients. The aim of this study is to describe seizure types, electroencephalographic patterns and long-term seizure outcome in Prader–Willi syndrome patients suffering from epilepsy. We retrospectively studied 38 patients with Prader–Willi syndrome and seizures. Results of neuroimaging studies were obtained for 35 individuals. We subdivided these patients into two groups: group A, 24 patients, without brain lesions; and group B, 11 patients, with brain abnormalities. All patients were re-evaluated after a period of at least 10 years. Twenty-one patients (55.2 %) were affected by generalized epilepsy and 17 patients (44.8 %) presented focal epilepsy. The most common seizure type was generalized tonic– clonic seizure. The mean age at seizure onset was 4.5 years (ranged from 1 month to 14 years). In the follow-up period, seizure freedom was achieved in 32 patients (84.2 %). Seizure freedom was associated with electroencephalographic normalization, while the six children presenting drug-resistant epilepsy showed persistence of electroencephalographic abnormalities. Group B patients showed a higher prevalence of drug-resistant epilepsy. Patients with Prader–Willi syndrome were frequently affected by generalized seizures. Most of the patients had a favorable evolution, although, patients with brain abnormalities presented a worse outcome, suggesting that the presence of these lesions can influence the response to antiepileptic therapy.
AB - Prader–Willi syndrome is a multisystemic genetic disorder that can be associated with epilepsy. There is insufficient information concerning the clinical and electroencephalographic characteristics of epilepsy and the long-term outcome of these patients. The aim of this study is to describe seizure types, electroencephalographic patterns and long-term seizure outcome in Prader–Willi syndrome patients suffering from epilepsy. We retrospectively studied 38 patients with Prader–Willi syndrome and seizures. Results of neuroimaging studies were obtained for 35 individuals. We subdivided these patients into two groups: group A, 24 patients, without brain lesions; and group B, 11 patients, with brain abnormalities. All patients were re-evaluated after a period of at least 10 years. Twenty-one patients (55.2 %) were affected by generalized epilepsy and 17 patients (44.8 %) presented focal epilepsy. The most common seizure type was generalized tonic– clonic seizure. The mean age at seizure onset was 4.5 years (ranged from 1 month to 14 years). In the follow-up period, seizure freedom was achieved in 32 patients (84.2 %). Seizure freedom was associated with electroencephalographic normalization, while the six children presenting drug-resistant epilepsy showed persistence of electroencephalographic abnormalities. Group B patients showed a higher prevalence of drug-resistant epilepsy. Patients with Prader–Willi syndrome were frequently affected by generalized seizures. Most of the patients had a favorable evolution, although, patients with brain abnormalities presented a worse outcome, suggesting that the presence of these lesions can influence the response to antiepileptic therapy.
KW - EEG
KW - Epilepsy
KW - Long term outcome
KW - Prader–Willi syndrome
UR - http://www.scopus.com/inward/record.url?scp=84926638262&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84926638262&partnerID=8YFLogxK
U2 - 10.1007/s00415-014-7542-1
DO - 10.1007/s00415-014-7542-1
M3 - Article
VL - 262
SP - 116
EP - 123
JO - Journal of Neurology
JF - Journal of Neurology
SN - 0340-5354
IS - 1
ER -