Jeavons Syndrome (Epilepsy With Eyelid Myoclonia)

What is Jeavons syndrome?

Epilepsy with eyelid myoclonia, or Jeavons syndrome, is a rare type of epilepsy that causes sudden eyelid closures, eye flickering and eyes rolling up. Changing light patterns and sensitivity to light trigger seizures. This condition usually begins during childhood.

It can be terrifying watching your child experience a seizure for the first time, then, again every time they experience one. You may constantly worry about their safety. It can leave you and your child feeling helpless when you know your child just wants to play, learn and enjoy being a kid.

Fortunately, treatment is available to manage seizures and the effect seizures can have on you and your child’s mental health. Jeavons syndrome is a lifelong condition that doesn’t go away as your child gets older, so they’ll need regular treatment throughout their life.

Is Jeavons syndrome dangerous?

Jeavons syndrome can be dangerous. The severity of seizures can have a significant impact on your child’s overall health. Seizures can happen unexpectedly, so your child may be at risk of falling and injuring themselves. A healthcare provider can offer treatment and advice to help keep your child safe.

How rare is Jeavons syndrome?

Jeavons syndrome affects 1% to 2% of people diagnosed with epilepsy. Epilepsy affects an estimated 50 million people around the world.

What are the symptoms of Jeavons syndrome?

The three main features of Jeavons syndrome include:

1. Involuntary, rapid eyelid muscle contractions that make your child close their eyes or blink repeatedly (eyelid myoclonia). Their head and eyes may roll back. This can happen with or without a sudden, short loss of awareness or consciousness (absence seizure). It usually lasts only a few seconds. They might experience these multiple times per day, but they’re more common upon awakening.
2. Seizures triggered by changes in lighting or a lack of sleep (eye closure-induced seizures). This causes abnormal electrical patterns in your child’s brain that happen when they close their eyes (eyelid closure-elicited electroencephalographic paroxysms). A provider can see these patterns on an EEG test.
3. Sensitivity to light (photosensitivity). Flashing lights can trigger a seizure. Discomfort happens due to bright lights or changing light patterns (flashing lights).

In addition, your child may experience seizures that cause them to briefly jerk their arms and legs (myoclonic seizures) or seizures that cause uncontrolled convulsions (grand mal or tonic-clonic seizures). These are less common.

What triggers Jeavons syndrome symptoms?

Bright, flashing or flickering lights can trigger or cause symptoms. Strobe lights, a light bulb that needs to be changed or the sun appearing from behind clouds can cause symptoms. Shimmering light over a body of water and fluctuating light patterns when driving under a canopy of trees often lead to seizures. Avoiding certain light sources or protecting your child’s eyes from light changes can reduce how often symptoms happen.

At what age do symptoms of Jeavons syndrome appear?

Symptoms commonly start during childhood. The age of onset is usually between 1 year and 15 years old. Most cases happen between ages 6 and 8.

What causes Jeavons syndrome?

The exact cause of Jeavons syndrome isn’t well understood. Studies suggest genetics play a role. A genetic change (mutation) of one of the following genes can lead to seizures:

• CHD2.
• COL6A3.
• KCNB1.
• NAA10.
• NEXMIF.
• RORB.
• SYNGAP1.

Some genetic variants that cause this condition have yet to be identified. Each gene change can follow a different pattern of inheritance. Inheritance is the process of how you receive traits from your biological parents during conception. A genetic counselor can help you better understand how genetics play a role in your child’s diagnosis.

What are the risk factors for Jeavons syndrome?

Anyone can develop Jeavons syndrome, but you’re more at risk if someone in your family has epilepsy. Up to 80% of children diagnosed with Jeavons syndrome have a biological family member who has generalized epilepsy.

It’s more common in women and people assigned female at birth than men and people assigned male at birth.

What are the complications of Jeavons syndrome?

An estimated 1 in 5 people diagnosed with Jeavons syndrome experience multiple absence seizures in a row without breaks in between each one. This is known as eyelid myoclonic status epilepticus.

Status epilepticus is a life-threatening medical emergency and needs immediate medical attention. If your child has a seizure that lasts more than five minutes, or has back-to-back seizures without breaks, call 911 or your local emergency services number.

Epilepsy can have a significant impact on your child’s mental health. They may feel scared, nervous or not like themselves after a seizure. It’s common to also experience anxiety and depression with Jeavons syndrome. A mental health professional can help your child manage their emotional well-being.

How is Jeavons syndrome diagnosed?

A healthcare provider will diagnose Jeavons syndrome after:

• A neurological exam.
• Learning more about your child’s health and biological family health history.
• An electroencephalogram (EEG).

During these exams and tests, your child’s provider will look for the three features of Jeavons syndrome to make an accurate diagnosis and rule out conditions with similar symptoms.

How is Jeavons syndrome treated?

Antiseizure medications treat Jeavons syndrome. Your healthcare provider may recommend wearing special lenses (glasses) to filter out sources of light that trigger symptoms.

What medications treat Jeavons syndrome?

Your child’s healthcare provider might recommend one of the following antiseizure medications (listed in alphabetical order) to treat Jeavons syndrome:

• Brivaracetam.
• Clobazam.
• Ethosuximide.
• Lacosamide.
• Lamotrigine.
• Levetiracetam.
• Perampanel.
• Topiramate.
• Valproic acid.

Everyone responds to antiseizure medications differently. Your child may need to try different medications or combinations of medications before finding one that works best. This can be a frustrating and sometimes lengthy experience. You’ll need to schedule frequent appointments with their prescribing provider during this process to monitor how your child’s body responds to the medication(s).

Your child’s provider will also let you know about what side effects to look out for with each medication. Follow up with your child’s provider if you have questions about any treatment options they recommend.

Can changing what my child eats help treat Jeavons syndrome?

There isn’t a diet recommended for Jeavons syndrome. There’s no data available to support the use of the ketogenic diet as a treatment option.

What’s the prognosis for Jeavons syndrome?

The prognosis for Jeavons syndrome varies depending on your child’s specific situation. Your child’s healthcare provider can give you the best information on what to expect.

There isn’t a cure for Jeavons syndrome but research is ongoing to learn more. The condition is lifelong and treatment is available to help manage seizures.

How does Jeavons syndrome affect a child’s intelligence?

Seizures and eyelid contractions can affect how well your child is able to learn in the classroom, but it doesn’t affect their intelligence. If your child can’t keep their eyes open, it can interfere with their ability to participate in what’s going on in the classroom fully. Many children with Jeavons syndrome have trouble learning in school and may need additional educational support. A history of developmental delay in your child may indicate a genetic cause for the Jeavons syndrome.

What’s the life expectancy for Jeavons syndrome?

Jeavons syndrome doesn’t directly affect your child’s life expectancy. A normal lifespan is common. The severity of seizures and how your child’s body responds to treatment can have an impact on your child’s general health. A healthcare provider can help you monitor and manage this condition throughout your child’s life.

When should I see a healthcare provider?

Contact emergency services immediately if your child has a seizure for the first time.

If you or your child have a Jeavons syndrome diagnosis, contact a provider if you notice your or your child’s seizures or symptoms get worse or there are side effects from treatment. Your provider can help you and your child manage the condition and answer any questions you might have.

What questions should I ask my healthcare provider?

• What type of treatment do you recommend?
• What are the side effects of treatment?
• Do you recommend special lenses for light sensitivity?
• How do I support my child in school?

How does sunflower syndrome relate to Jeavons syndrome?

Sunflower syndrome and Jeavons syndrome are similar. Sunflower syndrome is a type of epilepsy with eyelid myoclonia. With sunflower syndrome, a person may turn toward a bright light source, like the sun, and wave their hand in front of their eyes. This can trigger a seizure due to changes in light patterns.