Diagnosing Dravet Syndrome
Dravet Syndrome is first and foremost a clinical diagnosis.
In the UK, the clinical diagnosis is based on:
- Recognition of particular types of seizures
- The course of the condition (e.g. does it include intellectual disabilities or other Dravet comorbidities)
- Electroencephalographic (EEG) features
Finding out whether individuals with this clinical diagnosis also have a genetic mutation associated with the underlying causes of Dravet is very helpful. A genetic test is especially beneficial for very young children (babies and infants), when it can sometimes be difficult to obtain a clear diagnosis of Dravet Syndrome on clinical grounds alone. However, testing has benefits at any age.
Diagnostic genetic testing for Dravet Syndrome is available in the UK from the NHS.
A confirmative (also called a “positive") test for a genetic mutation can help prevent misdiagnosis, avoid further unnecessary investigations, enable earlier and better-informed treatment choices, and improve access to additional therapies and services.
A ”negative" test for a genetic mutation does not prevent a clinical diagnosis of Dravet, it just means that no mutation was found. This is why it’s so important that Dravet is diagnosed according to an individual’s observable symptoms and characteristics (their “phenotype”), rather than their “genotype” alone.
If you’re concerned that an individual you know might have Dravet Syndrome, speak to a doctor without delay. Any child with suspected Dravet Syndrome should be assessed by a paediatrician with expertise in epilepsy or a child neurologist.
Healthcare professionals, who are not familiar with Dravet Syndrome, can find out more information here.
The genetic test for Dravet Syndrome is a free, simple blood test. Click here to read about the benefits of testing, what the process involves, and why genetic counselling is always recommended.Read More