- 作者：Alberto Verrotti ; Raffaella Cusmai ; Francesco Nicita ; Antonella Pizzolorusso ; Maurizio Elia ; Nelia Zamponi ; Elisabetta Cesaroni ; Tiziana Granata ; Ilaria De Giorgi ; Lucio Giordano ; Salvatore Grosso ; Piero Pavone ; Emilio Franzoni ; Giangennaro Coppola ; Caterina Cerminara ; Paolo Curatolo ; Salvatore Savasta ; Pasquale Striano ; Pasquale Parisi ; Antonino Romeo ; et al.
- 关键词：ACTH ; Adrenocorticotropic hormone ; AED ; Antiepileptic drug ; CBZ ; Carbamazepine ; CLZ ; Clonazepam ; EEG ; Electroencephalography ; FBM ; Felbamate ; GS ; Generalized seizures ; IS ; Infantile spasms ; LEV ; Levetiracetam ; LGS ; Lennox-Gastaut syndrome ; NS ; Not significant ; PS ; Partial seizures ; VGB ; Vigabatrin ; VPA ; Valproic acid
- 刊名：The Journal of Pediatrics
- 出版年：December, 2013
- 年：2013
- 卷：163
- 期：6
- 页码：1754-1758
- 全文大小：204 K
Objective
To describe the electroclinical features and the long-term outcomes of epilepsy in a large cohort of males and females with Down syndrome who developed epilepsy in childhood.Study design
Subjects with Down syndrome and cryptogenic epilepsy with onset in childhood were identified retrospectively from the databases of 16 Italian epilepsy centers over a 40-year period. For each subject, age at onset of seizures, seizure semiology and frequency, electroencephalography characteristics, treatment with antiepileptic drugs, and long-term clinical and electroencephalography outcomes were analyzed.
Results
A total of 104 subjects (64 males [61.5%], 40 females [38.5%]) were identified. Seizure onset occurred within 1 year of birth in 54 subjects (51.9%), between 1 and 12 years in 42 subjects (40.4%), and after 12 years in 8 subjects (7.7%). Males had a younger age of seizure onset than females. Of the 104 subjects, 51 (49.0%) had infantile spasms (IS), 35 (33.7%) had partial seizures (PS), and 18 (17.3%) had generalized seizures (GS). Febrile seizures were recorded in 5 (4.8%) subjects. Intractable seizures were observed in 23 (22.1%) subjects, including 5 (9.8%) with IS, 8 (44.4%) with PS, and 10 (31.3%) with GS.
Conclusion
Cryptogenic epilepsy in Down syndrome may develop during the first year of life in the form of IS or, successively, as PS or GS. Electroclinical features of IS resemble those of idiopathic West syndrome, with a favorable response to treatment with adrenocorticotropic hormone seen. Patients experiencing PS and GS may be resistant to therapy with antiepileptic drugs.