Rett Syndrome and Seizures: What To Expect and How To Prevent Them

About 90 percent of people with Rett syndrome develop epilepsy — a brain disorder that causes repeated seizures — at some point in life. Rett syndrome affects how the brain develops and functions, which can increase the risk of seizures. However, not everyone has active seizures all the time.

For many people with Rett syndrome, medication can help reduce how often seizures happen. If you care for someone with Rett, it’s important to understand what to expect and which treatments may help prevent or manage seizures.

Diagnosing Epilepsy

Before prescribing medication for seizures, your healthcare team will want to make sure it’s really needed. Some common Rett syndrome behaviors and movements can look like seizures, including:

• Hand-wringing
• Clapping
• Yelling or laughing in bursts
• Twitching
• Trembling
• Jerky movements
• Staring
• Blinking
• Hyperventilating
• Breath-holding

Parents and caregivers of children with Rett syndrome may have a hard time telling a seizure apart from a nonepileptic spell (an episode that looks like a seizure but is not caused by unusual electrical activity in the brain).

EEG Testing for Epilepsy

Because seizures can be hard to identify in people with Rett syndrome, doctors often recommend an electroencephalogram (EEG, a test that measures electrical activity in the brain) when seizures are suspected. This test can help confirm whether a person has epilepsy. Anti-seizure medications won’t help with Rett syndrome behaviors that are not caused by seizures.

Seizure Risk Changes With Age

Seizures are common in children with Rett, and studies show that seizure rates increase with age during childhood.

Seizure Risk by Age

Rett Syndrome Europe, a Rett syndrome advocacy organization, reports the following estimates for seizure risk during childhood:

• About 1 in 3 children ages 2 to 5 will have seizures.
• About 2 out of 3 children ages 5 to 10 will have seizures.
• About 3 out of 4 children ages 10 to 15 will have seizures.

Many people with Rett and epilepsy have fewer or less severe seizures as they get older. However, this is not true for everyone. Some people need to take anti-seizure medication for their entire lives, and for some, anti-seizure medications do not work well enough to fully control seizures.

Common Types of Seizures in Rett Syndrome

Many people with Rett syndrome and epilepsy have more than one type of seizure. The most common type is generalized tonic-clonic seizures.

Following are the possible seizure types with Rett syndrome.

Generalized Tonic-Clonic Seizures

Also called grand mal seizures, generalized tonic-clonic seizures affect the whole brain and body.

Symptoms of this type may include:

• Sudden loss of consciousness
• Body stiffening
• Twitching
• Shaking

During this type of seizure, the risk of injury can be higher than with some other types.

Focal Impaired Awareness Seizures

Also called complex partial seizures, focal impaired awareness seizures start in one part of the brain and affect a person’s awareness.

Symptoms include:

• Staring into space
• Not responding to verbal or visual communication like normal
• Making repetitive movements, such as hand rubbing, chewing, swallowing, or walking in circles

Atypical Absence Seizures

Atypical absence seizures are most common in children. They usually last between five and 30 seconds.

Possible symptoms of this type include:

• Staring into space
• Remaining still
• Making subtle repetitive body movements, such as eye blinking or lip smacking
• Falling down

Anti-Seizure Medication for Rett Syndrome

Anti-seizure medications are often prescribed to help prevent seizures or reduce how often they happen in people with Rett syndrome. Depending on the person’s seizure type, EEG results, and side effects, doctors may recommend one medication alone or a combination of medications. There is no single anti-seizure medication that works best for everyone with Rett syndrome.

Following are anti-seizure medications a doctor may prescribe.

Valproate

Valproate is one of the most commonly reported anti-seizure medications used in Rett syndrome. Some studies found that valproate was linked to seizure freedom in about 75 percent of people treated with it as their first medication. Researchers also observed a more than 50 percent drop in seizure frequency in 59 percent of participants. It appeared to work best in people whose seizures started at ages 4 to 5.

Carbamazepine

In an older study, carbamazepine was found to be more effective than valproate and slightly more effective than sulthiame for treating seizures in Rett syndrome.

Of those taking carbamazepine:

• 86 percent saw some improvement.
• 71 percent saw a significant reduction in seizures.
• 56 percent were able to stay seizure-free for six months.

Lamotrigine

Lamotrigine was linked to a 50 percent seizure-free rate in a significant proportion of people with Rett syndrome, especially in those whose seizures began after age 10. Some reports also found that people taking lamotrigine were happier, more alert, and better able to concentrate.

Sulthiame

In one older study, sulthiame was linked to a more than 50 percent reduction in seizure frequency in 64 percent of participants with Rett syndrome. In the same study, 40 percent were seizure-free for more than six months, and 53 percent had an overall positive effect, such as shorter, milder, or less frequent seizures.

Other Ways To Treat Seizures With Rett

Most of the time, seizures can be effectively treated with anti-seizure medications. However, for about one-third of people, medication does not control seizures well enough. Following are other approaches a doctor may recommend.

Keto Diet

In some cases, a doctor may recommend the keto diet (short for ketogenic diet). This is a high-fat, very low-carbohydrate diet that changes how the body uses energy. It is sometimes used to help manage seizures, especially when medications have not worked well enough.

In one small study of children with Rett and medication-resistant seizures, 6 out of 9 children had at least a 50 percent reduction in seizures after going on the keto diet. Children who experienced this improvement also showed better alertness and thinking skills. In this study, most of the children were fed through a feeding tube, which may have made a strict keto diet easier to stay on. Because the evidence is limited, more research is needed.

Vagus Nerve Stimulation

For some people with Rett syndrome whose seizures are not controlled by medication, vagus nerve stimulation (VNS) may help. VNS uses a small implanted device to send mild electrical signals through the vagus nerve (a nerve that helps connect the brain and body). This treatment is approved for people ages 4 and older with seizures that are not controlled by medication.

One study showed that 75 percent of people whose seizures had been untreatable with medication were able to achieve a greater than 50 percent reduction in seizures using this therapy.

Can Medications for Rett Reduce Seizures?

There is currently one medication approved by the U.S. Food and Drug Administration (FDA) specifically for treating Rett syndrome called trofinetide (Daybue). It’s indicated for children 2 and up.

Trofinetide is not an anti-seizure medication. Instead, it is used to help treat some of the core symptoms of Rett syndrome. However, in one very small case series, 2 out of 3 participants also experienced a drop in seizure frequency of more than 50 percent. More research is needed to better understand how this medication may affect seizures.

Reasons To Be Hopeful

Rett syndrome can be a difficult diagnosis, and seizures can feel scary for parents and caregivers. But you are not alone. Many families affected by Rett syndrome are going through similar experiences.

It’s common to need to try more than one medication or combination of treatments to find what works best. Even so, many people are able to reduce seizures with treatment. Researchers are also studying new and emerging treatments that may help improve Rett syndrome symptoms overall.

Join the Conversation

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How have you succeeded in managing seizures with Rett? Let others know in the comments below.