Billy, a 10-year-old boy, "blanks out" sometimes and stops playing ball for 10 to 15 seconds during baseball practice. His coach calls his name, but Billy doesn't seem to hear him. He usually blinks a few times and sometimes he starts moving his mouth like he’s chewing something. Usually the seizure ends abruptly and he’s right back to the game. Some days he can have more than 40 of these staring spells and, in the morning, he might also have the kind of seizure where his whole body stiffens then jerks.
- Juvenile absence epilepsy (JAE) is a an epilepsy syndrome with absence seizures (staring spells) during which the child is not aware.
- JAE differs from childhood absence epilepsy in a few ways. JAE usually begins later, from late childhood to early teen years, and is usually a life-long condition. Childhood absence epilepsy can occur in young children and often goes away as the child gets older. Also the absence seizures in JAE can be longer than those occurring in CAE.
- The absence seizures of JAE may last up to 45 seconds and end abruptly. More than 3 out of 4 people with JAE will also have tonic-clonic seizures.
- People with JAE are at higher risk of absence or nonconvulsive status epilepticus.
- The cause is predominantly genetic.
What is it like?
- The seizures of juvenile absence epilepsy (JAE) are characterized by staring spells (absence seizures) during which the young person is not aware or responsive. The person’s eyes may roll up briefly or the eyelids may flutter. Some people may have repetitive movements, like mouth chewing (automatisms).
- Seizures usually last 10 to 45 seconds and end abruptly. The person can resume normal activity after the seizure and often is not even aware that anything has happened.
- These episodes can occur 1 to 100 times per day, often during exercise.
- People with JAE are at higher risk of absence status epilepticus (also called nonconvulsive status epilepticus). When this happens, the absence seizures may last minutes to hours. The person may be confused, may not be able to respond normally, or may have difficulty walking.
- More than 3 out of 4 (over 75%) people with JAE also have generalized tonic-clonic seizures with body stiffening and jerking, usually when waking up. These tonic-clonic seizures may occur for a while before absence seizures develop. They usually last seconds to minutes.
- People with JAE usually develop normally, though children with very frequent absence seizures can have learning difficulties. 1 of 3 children may also have attention, concentration, and memory problems before the diagnosis of JAE is made. The learning problems may improve after treatment is started.
Who gets it?
- 1 in 50 (or 2%) of people with epilepsy have JAE.
- The seizures in JAE usually begin between the ages of 9 and 13 years, but could start before age 9.
- The cause is predominantly genetic. A family history is rare, but family members may have similar seizures or other generalized epilepsies.
How is JAE diagnosed?
- Information about your health and family history and a physical and neurological examination are the first steps in diagnosing absence seizures.
- An EEG is done to look for possible seizure activity. Often a doctor will ask the young person to hyperventilate or take short quick breaths repeatedly for 3 to 5 minutes as hyperventilation could trigger an absence seizure in people with JAE.
- The EEG shows spike and wave discharges at 3 to 6 Hz (cycles per second) that are generalized (the same on both sides of the brain).
- CT and MRI scans of the brain are normal.
- Screening for attentional problems is recommended.
Examples of 3 to 6 Hz generalized spike wave.
How is JAE treated?
- JAE usually responds to treatment. Medications commonly used in JAE are valproate (Depakote), ethosuximide (Zarontin), and lamotrigine (Lamictal).
- If the child is having generalized tonic-clonic seizures, ethosuximide (Zarontin) would not be the medication of choice.
- If the absences or generalized tonic-clonic seizures are persistent, combining these medications may be helpful.
- Other medications have been used to treat absence seizures, like methsuximide (Celontin ). Some have been used, but have not been adequately studied, like topiramate (Topamax), zonisamide (Zonegran), levetiracetam (Keppra), and benzodiazepines (clobazam).
What's the outlook for children with JAE?
- JAE usually responds to treatment.
- It is considered a life-long condition, which means seizure medications will be needed to control the seizures.
- Attention problems have been shown to persist despite successful treatment; therefore close monitoring is recommended.