Precision medicine, which typically looks at genetics, environment, and lifestyle to help find the best treatment for patients, is becoming a reality. This means that having a correct and prompt diagnosis is essential, particularly for patients who have severe forms of epilepsy, developmental and epileptic encephalopathies (DEE).
Dravet syndrome is a type of DEE, and the earlier the diagnosis can be made in a patient, the better. There has been some success with gene therapy, which could help young patients to have a better outcome. Early diagnosis will mean better optimization of treatments and anti-seizure medicine. It can also help to better identify which patients are ready for trials of precision therapies. These therapies have the potential to change the outcome of Dravet syndrome, which is great news for parents and children.
However, diagnosis of Dravet syndrome does not always occur as early as it should. In some cases, a child might be three years old before they get a proper diagnosis. The reason for this is simple. Clinical doctors worry about making such a serious diagnosis until they see all of the clinical features of Dravet syndrome.
This often means that the patient is not being given the correct seizure medications, which can cause more seizures and negatively affect the development of the child. Researchers who recently published in Epilepsia: Official Journal of the International League Against Epilepsy wanted to provide a better, evidence-based definition of SCN1A-Dravet syndrome to ensure patients are ready for precision medicine trials.
How Did The Study Work?
Neurologists from around the globe “were recruited to the University of Mel Melbourne Epilepsy Genetics Research Program between 1995 to 2020.” The patients who had the SCN1A variant were reviewed. The researchers then chose those who had Dravet syndrome to include in the study. They then analyzed all of the clinical data about those patients. This includes seizures and the developmental course of those patients as they got older.
What Did The Study Find?
Overall, 205 patients were studied. The age of the patients was from 10 months to 60 years old, with the median age being 8.5. Out of those patients, 25 of them had passed away.
Researchers found that the median seizure-onset was 5.7 months old with a range from 1.5 months to 20.6 months. 52% of the first seizures were tonic-clonic and 35% of them were hemiclonic. Only 55% of seizures that occurred were associated with a fever. 34% of patients presented with status epilepticus.
The median time between the first seizure and the second seizure was 30 days, with a range from just four hours up to eight months. Seven of the patients in the study had at least six months between the seizures.
The median age for the onset of the second and third seizure types was 9.1 months and 15.5 months. In 27% of the cases they studied, 27% of the patients had developmental slowing that occurred before they were 12 months old.
Early Diagnosis Requires an Evidence-Based Definition of SCN1A-Dravet Syndrome
The work that the researchers have done has helped to create a solid definition for this variant of Dravet syndrome, which will help to make early diagnosis possible. Clinicians need to understand the syndrome and how it presents, even when not all of the usual indicators are noticed. This will help with early diagnosis and improvement of treatment for those children who have this condition.
As more and more precision medicine trials become available, it can help to ensure patients are diagnosed and ready for those trials. It could help to provide them with a better outcome.