A rare type of epilepsy in which light sensitivity and eyelid muscle contractions may cause seizures is called Jeavons syndrome (also known as epilepsy with eyelid myoclonia). Most of the time, the condition starts during childhood. However, there are some treatment options that may help ease the symptoms and even prevent seizures. Unfortunately, people with this syndrome should take medicines for the rest of their lives because it cannot be cured.
Generally, it affects about 1% to 2% of people with epilepsy, but there are about 50 million people who are diagnosed with epilepsy worldwide.
Is Jeavons Syndrome Dangerous?
The symptoms of this genetic disorder range from mild to severe. In some cases, seizures occur suddenly and increase your risk of falls or injuring yourself.
What Are The Symptoms of Jeavons Syndrome?
Most of the time, the age of onset is between 1 and 15 years old. Most children begin to experience symptoms of this condition between the ages of 6 and 8. Check below for the three primary features of this genetic disorder:
- Fast, involuntary eyelid contractions that cause your child to close their eyes or blink several times (also known as eyelid myoclonia). Moreover, their eyes and head may roll back, and it often occurs with or without a sudden and short loss of awareness or consciousness. In most cases, these symptoms last a few seconds, but they can occur several times during the day.
- People with Jeavons syndrome may also experience seizures due to changes in lighting or a lack of sleep. As a result, it causes abnormal electrical patterns in the brain, which occur when an affected person closes his/her eyes (also called eyelid closure-elicited electroencephalographic paroxysms). Usually, doctors may identify these patterns on an EEG (electroencephalogram).
- Photosensitivity or sensitivity to light – People with this genetic disorder may also experience seizures due to flashing lights. Commonly, discomfort occurs due to bright lights or changing light patterns.
Those who develop this condition may also experience seizures that cause them to briefly jerk their legs and arms (myoclonic seizures) or uncontrolled convulsions (also known as grand mal or tonic-clonic seizures).
What Are The Triggers of Jeavons Syndrome Symptoms?
Usually, the symptoms are triggered by bright, flashing, or flickering lights. For instance, strobe lights, a light bulb that needs to be changed, or the sun appearing from behind the clouds can cause symptoms. You should know that shimmering light over a body of water and fluctuating light patterns may also cause symptoms of Jeavons syndrome. That’s why getting protection against some light sources may reduce the risk or even prevent a seizure.
Causes and Risk Factors
Doctors do not fully understand what exactly causes this syndrome. However, some recent studies have shown that certain genetic changes could play a role. These include:
- NAA10
- NEXMIF
- RORB
- SYNGAP1
- COL6A3
- CHD2
- KCNB1
There may be some genetic changes that may cause this syndrome, but they have not yet been identified. Moreover, each genetic mutation may follow a different pattern of inheritance. This is the process in which a baby receives traits from the biological parents during pregnancy. To understand more about how genetics play a role in your child’s diagnosis, discuss it with a genetic counselor.
Physicians have also identified some factors that could increase the risk of this genetic disorder. Check some examples below:
- Sex – This syndrome tends to occur more frequently among females.
- Family history – Approximately 80% of children who are diagnosed with this syndrome have a parent or sibling with generalized epilepsy.
- Intellectual disability – Pre-existing cognitive or learning difficulties increase the risk of Jeavons syndrome.
What Are The Possible Complications of Jeavons Syndrome?
People with this syndrome may also experience some complications, especially if the condition is poorly managed. Check some examples below:
- Status epilepticus – This is a medical emergency that requires immediate medical help. Otherwise, it may lead to unpleasant results (such as permanent damage to the brain). Those who develop this complication may experience multiple absence seizures that occur without breaks in between.
- Mental disorders – For example, depression, anxiety, emotional distress, and others.
- Generalized tonic-clonic seizure – Most people who develop Jeavons syndrome will experience this complication.
- Focus and learning difficulties – These complications occur due to frequent seizures.
The previous list does not contain a full list of complications. In any case, you can talk with your physician about measures to reduce the risk or even prevent them.
What is The Life Expectancy for Jeavons Syndrome?
While the condition itself does not affect your life expectancy, certain complications it causes may reduce it. That’s why it is recommended to inform your doctor about any changes you notice, especially during treatment.
Diagnosis
Doctors often diagnose this condition after performing the following tests and procedures. They may also ask some questions about your symptoms and family history to get more clues about your condition. Examples include:
- Neurological examination
- Electroencephalogram (EEG)
The previous tests and procedures may also help exclude other health conditions that cause similar symptoms to Jeavons syndrome.
Treatment
The main treatment for people with this syndrome is antiseizure medicines. However, doctors may also recommend some special lenses to filter out sources of light that may cause symptoms. Check some examples of antiseizure medicines below:
- Valproic acid
- Levetiracetam
- Perampanel
- Topiramate
- Lacosamide
- Ethosuximide
- Clobazam
- Brivaracetam
- Lamotrigine
Usually, people respond differently to these medicines, and it may take time to find the medicine or combination of medications that will help your child. In some cases, doctors may reduce the dose or even change the medicine because of severe adverse reactions. For more details, discuss it with your healthcare professional.
Frequently Asked Questions
Is Jeavons syndrome a genetic disorder?
Jeavons syndrome is considered a genetic generalized epilepsy, although the exact genetic cause is not always identified. Several genes have been associated with epilepsy and eyelid myoclonia, but more research is needed to understand the condition fully.
At what age does Jeavons syndrome usually begin?
Jeavons syndrome most often begins during childhood, particularly between 6 and 8 years of age. However, symptoms can begin anywhere from early childhood through adolescence.
Can flashing lights trigger Jeavons syndrome seizures?
Yes, flashing, flickering, or rapidly changing lights can trigger seizures in people with Jeavons syndrome. Other visual patterns, sunlight flickering through trees, and reflections from water may also trigger symptoms.
Can lack of sleep make Jeavons syndrome worse?
Sleep deprivation is a common seizure trigger and may increase the frequency or severity of seizures. Maintaining a regular sleep schedule and getting adequate sleep may help reduce seizure risk.
Can Jeavons syndrome cause generalized tonic-clonic seizures?
Yes. People with Jeavons syndrome may develop generalized tonic-clonic seizures, which cause loss of consciousness followed by stiffening and rhythmic jerking of the body. These seizures can cause injuries and require appropriate medical management.
How is Jeavons syndrome diagnosed?
Doctors typically use a detailed medical and family history, neurological examination, and EEG. An EEG may show characteristic electrical abnormalities associated with eye closure and photosensitivity. Doctors may also use other tests to rule out different types of epilepsy.
Can Jeavons syndrome be cured?
There is currently no known cure for Jeavons syndrome. However, antiseizure medicines and strategies to avoid seizure triggers can help control symptoms. Treatment is usually long-term because seizures may return if medication is stopped.
Can people with Jeavons syndrome live a normal life?
Many people with Jeavons syndrome can participate in school, work, social activities, and other daily activities when their seizures are well controlled. However, they may need to take precautions around known triggers and follow their healthcare provider’s treatment recommendations.
What should someone with Jeavons syndrome do to avoid light-triggered seizures?
People with photosensitive epilepsy may benefit from avoiding strobe or flashing lights and reducing exposure to rapidly changing visual patterns. Wearing appropriate tinted or filtering lenses and covering one eye when unexpectedly exposed to flashing light may help some people, but these measures should not replace prescribed antiseizure treatment.
When should someone with Jeavons syndrome seek emergency medical care?
Emergency medical attention is needed for a seizure lasting 5 minutes or longer, repeated seizures without recovery between them, serious injury, breathing difficulties, or a seizure occurring in water. If a person has a seizure for the first time, emergency medical evaluation is also recommended. Ask your doctor if you have additional questions.
