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Rett syndrome associated with continuous spikes and waves during sleep
Mouna Al Husni Al Keilani1, Sophie Carlier, José Groswasser
1Department of Neurology - Hôpital Universitaire des Enfants Reine Fabiola, Université Libre de Bruxelles (ULB), Brussels, Belgium.
Acta Neurologica Belgica
|February 29, 2012
Summary
Rett syndrome patients may experience speech regression linked to nocturnal epilepsy. Valproic acid treatment showed improvements in communication and adaptive behaviors, suggesting epilepsy management is key.
Area of Science:
- Neuroscience
- Genetics
- Pediatrics
Background:
- Rett syndrome is characterized by significant speech impairment and frequent epilepsy.
- The genetic basis of Rett syndrome involves mutations in the MECP2 gene.
Observation:
- A girl with Rett syndrome (MECP2 mutation R133C) exhibited rapid speech regression.
- Her EEG revealed continuous spikes and waves during slow sleep, an unusual finding in early-stage Rett syndrome.
Findings:
- Speech regression was hypothesized to be partly due to nocturnal epileptic activity.
- Valproic acid treatment led to improvements in verbal fluency, social interaction, and manual abilities, as assessed by standardized scales.
Implications:
- Nocturnal epileptic activity may significantly impact communicative capabilities in Rett syndrome.
- Targeted antiepileptic treatment, such as with valproic acid, could be beneficial for managing clinical impairment in Rett syndrome.
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