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Dravet syndrome in children-A population-based study
Björn Bjurulf1, Colin Reilly1, Gudmundur Vignir Sigurdsson2
1Department of Pediatrics, Institute of Clinical Sciences, Sahlgrenska Academy, University of Gothenburg, 405 30 Gothenburg, Sweden; Queen Silvia Children's Hospital, Sahlgrenska University Hospital, Member of the ERN EpiCARE, 413 45 Gothenburg, Sweden.
Insights
Early diagnosis and increased awareness of Dravet Syndrome (DS) in Sweden have led to improved outcomes. More children are diagnosed younger, with a higher incidence and less use of contraindicated medications.
Area of Science:
- Pediatric Neurology
- Genetics
- Epidemiology
Background:
- Dravet Syndrome (DS) is a severe form of epilepsy with early onset.
- Genetic variants, particularly in the SCN1A gene, are the primary cause of DS.
- Understanding the epidemiology and clinical characteristics of DS is crucial for improving patient care.
Purpose of the Study:
- To describe the age at diagnosis, cumulative incidence, SCN1A variants, mortality, seizure types, and treatments in Swedish children with DS.
- To compare these characteristics between children born in different time periods to identify trends.
Main Methods:
- A population-based study included children diagnosed with DS born between 2000 and 2018 in Sweden.
- Data on clinical features, seizure types, and treatments were collected from caregivers and medical records.
- Statistical comparisons were made between two birth cohorts (2000-2009 and 2010-2018).
Main Results:
- A pathogenic SCN1A variant was identified in over 90% of the 53 studied children.
- Median age at diagnosis was significantly lower (1.6 years) in the 2010-2018 cohort compared to the 2000-2009 cohort (4.5 years).
- Cumulative incidence of DS was higher in the later cohort (1/33,000 vs 1/46,000), and the use of contraindicated sodium-channel inhibitors decreased.
Conclusions:
- Increased awareness of DS in Sweden has likely contributed to earlier diagnosis and improved management.
- Tonic seizures may be more prevalent in DS than previously reported.
- The findings highlight the importance of genetic testing and tailored treatment strategies for DS.
Objective:
The aim was to describe age at diagnosis, cumulative incidence, SCN1A variants, mortality, seizure types and treatments in children with Dravet Syndrome (DS) in Sweden.
Methods:
Children diagnosed with DS, born between January 1st 2000 and December 31st 2018 were included in a population-based study. Clinical data, frequency of seizure types and treatments were collected from caregivers and medical records in 42 children. Age at diagnosis, cumulative incidence and treatment were compared between children born in Sweden 2000-2009 and 2010-2018.
Results:
We identified 55 children with DS, 53 were born in Sweden. Three children had died of definite, probable, or possible sudden unexpected death in epilepsy, one of acute anoxic brain injury and three of pneumonia or pneumonitis. Median age at death was 4.7 (range 3.3-11) years. In 49/53 children with known SCN1A status, a pathogenic/likely pathogenic variant of SCN1A was detected. In two a SCN1A variant of unknown significance was found. For children born in Sweden 2010-2018, median age at DS diagnosis was lower (1.6 vs 4.5 years, p = 0.001) and cumulative incidence higher (1/33,000 vs 1/46,000 live-born children, p = 0.03), compared to children born in 2000-2009. The most common seizure types were focal to bilateral tonic clonic (n = 41/42) and myoclonic (n = 35/42). Tonic seizures were reported in 25/42 children. Sodium-channel inhibitors had been used in 9/24 children born in 2010-2018 and 17/18 children born in 2000-2009 (p = 0.001).
Significance:
A SCN1A variant that could explain the syndrome was found in over 90% of children. Tonic seizures seem to be more frequent than earlier described. Median age at diagnosis was lower, cumulative incidence higher and use of contra-indicated sodium-channel inhibitors less common for children born in 2010-2018 compared with children born in 2000-2009. This could indicate an increased awareness of DS.
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