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Dravet syndrome--considerable delay in making the diagnosis
A Bremer1, M I Lossius, K O Nakken
1Division of Surgery and Neuroscience, National Centre for Epilepsy, Oslo University Hospital, Norway. anna.bremer@vestreviken.no
Acta Neurologica Scandinavica
|November 5, 2011
Summary
Dravet syndrome diagnosis is significantly delayed, averaging 7.4 years from seizure onset. Early diagnosis of this severe epilepsy is crucial for genetic counseling and avoiding unnecessary evaluations.
Area of Science:
- Neurology
- Genetics
- Pediatric Epilepsy
Background:
- Dravet syndrome is a rare, severe form of epilepsy.
- Early identification is critical for management and genetic counseling.
Purpose of the Study:
- To determine the diagnostic delay and clinical features of Dravet syndrome in Norway.
- To analyze data from the Norwegian Dravet register.
Main Methods:
- Retrospective analysis of medical records for patients diagnosed with Dravet syndrome since 2007.
- Genetic screening for SCN1A gene mutations/deletions.
Main Results:
- Twenty-two patients were identified; 15 had SCN1A gene mutations.
- Average diagnostic delay was 7.4 years, with seizure onset at 6.7 months.
- Seizures were often fever-precipitated; cognitive/motor stagnation occurred by the second year. Antiepileptic drugs and vagal nerve stimulation showed limited efficacy.
Conclusions:
- Early diagnosis of Dravet syndrome can prevent extensive presurgical evaluations.
- Genetic guidance is essential for affected families.
- Timely diagnosis improves patient and family support.
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