Epilepsy in Chromosomal Abnormalities: An Italian Sample
| Autor: | Annio Posar, Simona Giovannini, P. Giovanardi-Rossi, Antonia Parmeggiani |
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| Přispěvatelé: | A. Parmeggiani, A. Posar, S. Giovannini, P. Giovanardi Rossi |
| Rok vydání: | 2005 |
| Předmět: |
Adult
Male Pediatrics medicine.medical_specialty Pathology Adolescent Mental Retardation Electroencephalography 03 medical and health sciences Epilepsy 0302 clinical medicine Intellectual Disability 030225 pediatrics Statistical significance medicine Humans In patient Chromosome Aberrations medicine.diagnostic_test business.industry medicine.disease Phenotype Italy Chromosomal Abnormalitie Karyotyping Pediatrics Perinatology and Child Health Female Neurology (clinical) business Profound mental retardation 030217 neurology & neurosurgery Follow-Up Studies |
| Zdroj: | Journal of Child Neurology. 20:419-423 |
| ISSN: | 1708-8283 0883-0738 |
| DOI: | 10.1177/08830738050200050501 |
| Popis: | Epilepsy is common in chromosomal abnormalities, but systematic studies are scanty. We describe an Italian sample of patients with chromosomopathies to establish epilepsy occurrence and clinical electroencephalographic (EEG) features. Forty-five patients with different types of chromosomal abnormalities were analyzed to examine different variables in patients with epilepsy (group 1) and without (group 2) and to compare the types of epilepsy in our cases with respect to a nonselected sample of Italian people with epilepsy. Epilepsy occurred in 51.1% (group 1) of cases and prevailed in autosomal abnormalities but without a statistical significance ( P > .05). There was a prevalence of EEG paroxysmal abnormalities in group 1 ( P < .0001); continuous spike-waves during sleep were observed in three cases. Profound mental retardation prevailed in group 1 ( P < .001) and mild mental retardation in group 2 ( P < .05). Generalized epilepsies prevailed significantly ( P < .00001). A high-resolution karyotype should be undertaken in all patients with epilepsy presenting with mental retardation when an obvious etiology is not available. ( J Child Neurol 2005;20:419—423). |
| Databáze: | OpenAIRE |
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