Juvenile absence epilepsy (JAE) is an epilepsy syndrome that’s quite common. It’s slightly more prevalent in girls than boys and presents mostly with absence seizures, which can mean that it’s easily confused for childhood absence epilepsy (CAE) and juvenile myoclonic epilepsy (JME).
With JAE, seizures will most often start between 9 – 12 years of age, however, they have been known to start as early as 5 or 6 in some cases. Absence seizures are characterised by a sudden loss of awareness whereby the child will become unresponsive and unaware of their surroundings.
These seizures can often be recognised by automatisms, which are repetitive, purposeless movements, usually made with the mouth or the eyes. Eyelid flickering and lip-smacking are two of the most common automatisms. Absence seizures will typically only last between 15 and 20 seconds, although occasionally can last up to 45. They will often happen multiple times throughout the day and are most common when the child is tired.
Many children with JAE will also have generalised tonic-clonic seizures, which are again more common just after waking or when the child is tired. A smaller number of children will experience brief myoclonic seizures.
A small percentage of children with JAE will also be photosensitive with around 1 in 20 reported to have been diagnosed.
A diagnosis will often be made from the child’s history and confirmed with the use of an electroencephalogram (EEG) test. The doctor may also ask the child to hyperventilate for 3 to 4 minutes, which will occasionally trigger an absence seizure in children with JAE.
A generalised spike and slow-wave activity will often show on the EEG test to provide confirmation of the diagnosis. No other tests, such as brain scans or blood tests are required to diagnose JAE.
The good news is that JAE is known to respond well to treatment. There are a number of AEDs that have proven to be effective at managing JAE, with sodium valproate, ethosuximide and lamotrigine being the three most common choices. Sometimes a combination of these medications will be prescribed to provide the optimum chance of complete management.
Although epilepsy is usually lifelong with JAE, 7 out of 10 children will have their seizures fully controlled with treatment. Children with JAE are not generally known to experience any behavioural or learning difficulties, although regular absence seizures can have an impact on memory and concentration.
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