Juvenile Absence Epilepsy
Juvenile absence epilepsy (JAE) is an epilepsy syndrome. All children with JAE have brief and sudden losses of consciousness called absence seizures. Many children with JAE also have whole-body stiffening and jerking. This is called a tonic-clonic seizure or convulsion.1
JAE can be treated with anti-seizure drugs. People with JAE may have to take these medicines for life. Talk to your child's doctor about treatments for JAE and any potential complications.1
What causes juvenile absence epilepsy?
Experts do not know exactly what causes JAE. Many people with JAE have a family history of epilepsy. So, experts believe JAE may have genetic causes. But they do not know which gene changes (mutations) lead to JAE.1
Gene mutations change the brain's usual electrical activity. Nerve cells (neurons) in the brain send electrical signals to other neurons. When these electrical signals are abnormal, they can lead to absence seizures and tonic-clonic seizures.2,3
Who gets JAE?
Symptoms of JAE start in children between 10 and 16 years old. Symptoms most often start around 12 years old.4
About 1 to 2 percent of children with epilepsy have JAE. It is equally common in boys and girls.1
What are the symptoms of juvenile absence epilepsy?
Almost all children with JAE have absence seizures. Absence seizures often go unnoticed because they are so brief. Symptoms of absence seizures include:3,4
- Vacant stare that lasts 10 to 45 seconds
- Sudden stop in motion without falling
- Lip smacking
- Eyelid fluttering
- Chewing motions
- Finger rubbing
- Small movements of both hands
After absence seizures, children are not confused, achy, or drowsy. They also do not remember the incident. Children with JAE usually have absence seizures once every couple of days.1,4
About 4 in 5 children with JAE also have tonic-clonic seizures. These typically last a few seconds to a few minutes and often occur upon waking up. Symptoms of tonic-clonic seizures include:2,4
- Whole-body stiffening and jerking
- Attention, memory, and concentration problems
- Variable frequency
What are some complications of JAE?
Absence seizures can interfere with a child's daily activities. This can lead to a number of complications. Children with JAE have a higher risk of:1,3
- Difficulty with fine motor skills
- Learning difficulties
- Social or behavioral problems
- Depression and anxiety
Tonic-clonic seizures can be dangerous in certain circumstances. These seizures can lead to:1,2
- Car accidents
- Sudden unexpected death in epilepsy (SUDEP)
How is it diagnosed?
Doctors diagnose JAE using health history, physical tests, and electroencephalography (EEG) tests. An EEG test measures electrical activity in the brain. A doctor might use rapid breathing or flashing lights during the EEG test to trigger a seizure. The pattern on the EEG then gives the doctor information about the type of seizures that are occurring.1,5
How is it treated?
Treating JAE can reduce its negative effect on a child's quality of life, school performance, and social acceptance. Anti-seizure drugs usually completely control JAE.1,5
The first-line drug therapies are valproic acid (Depakene®) and lamotrigine (Lamictal®). Most seizures respond to these anti-seizure medications. Valproic acid has worse side effects and should be used with caution in girls.1,4
The drug ethosuximide (Zarontin®) may help treat absence seizures. But it will not treat tonic-clonic seizures. That is why it is not the first-line treatment for JAE. Some other anti-seizure medications actually worsen absence seizures in children with JAE.1,4
If valproic acid or lamotrigine does not work well, your doctor may suggest other treatment methods. These include:1,4
- Combining these medicines
- Other medicines
- Ketogenic or other diet therapy
Before beginning treatment for JAE, tell your doctor about all of your child's health conditions and any other drugs, vitamins, or supplements they are taking. This includes over-the-counter drugs. Also talk to your doctor about what to expect from treatment.
Other things to know about juvenile absence epilepsy
In most cases, JAE responds to treatment and seizures go away. However, it is considered a lifelong condition. People with JAE continue taking anti-seizure medicines throughout their lives. Some children with JAE also may develop other seizure types later in life.1,4,5