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Early clinical and EEG features of infantile spasms in Down syndrome
M L Silva1, C Cieuta, R Guerrini
1Neuropediatrics Department Université René Descartes, Paris, France.
Insights
West syndrome (WS) in children with Down syndrome is not coincidental. This study found WS in Down syndrome patients exhibits unique EEG patterns and responds well to specific anti-seizure medications.
Area of Science:
- Neurology
- Genetics
- Pediatrics
Background:
- West syndrome (WS) is a severe infant epilepsy.
- Down syndrome is a genetic disorder associated with various health issues.
- The co-occurrence of WS and Down syndrome warrants further investigation.
Purpose of the Study:
- To investigate the characteristics of West syndrome in patients with Down syndrome.
- To determine if WS in Down syndrome has distinct features compared to idiopathic WS.
- To assess the response to treatment for seizures in this population.
Main Methods:
- A cohort of 14 patients with Down syndrome and WS, free of cardiac issues or hypoxia, were studied.
- Patients were investigated before treatment and followed for a mean of 4.5 years.
- Electroencephalography (EEG) was used to characterize seizure patterns and hypsarrhythmia.
Main Results:
- WS onset in Down syndrome patients occurred around 8 months, with symmetrical spasms and hypsarrhythmia.
- EEG findings during spasms and interictal periods were consistent with idiopathic WS.
- Intravenous diazepam effectively abolished hypsarrhythmia in treated patients.
- Seven patients developed additional seizure types, manageable with valproate and/or ethosuximide.
Conclusions:
- The combination of West syndrome and Down syndrome presents with specific clinical and EEG characteristics.
- WS in Down syndrome patients appears to be a distinct subtype with predictable treatment responses.
- Further research is needed to understand the underlying mechanisms of WS in Down syndrome.
Abstract:
The combination of West syndrome (WS) and Down syndrome appears not to be coincidental. Fourteen patients free of cardiac malformation or history of perinatal hypoxia were referred and investigated before they had received any treatment and were followed to the mean age of 4.5 years (range 19 months to 14 years). Spasms had onset at the mean age of 8 months (range 4-18 months) in cluster and were symmetrical. Hypsarrhythmia was symmetrical and, after intravenous diazepam (4 patients, 0.5 mg/kg) it disappeared, without any remaining focus. Recorded spasms during a cluster were "independent," with recurrence of hypsarrhythmia between successive spasms, and thus had the ictal and interictal EEG characteristics of idiopathic WS. Seven patients exhibited other types of seizures after WS, consisting of myoclonic jerks, atonic, tonic-clonic or absence seizures, which proved quite easy to control with valproate and/or ethosuximide.