Pediatric Rett Syndrome
Rett Syndrome is a rare non-inherited genetic disorder that affects the way the brain develops. It occurs almost exclusively in girls and its symptoms surface after 6 months of age often, characterized by repetitive hand movements while awake.
Rett syndrome is a rare, genetic (passed down from parent to child) neurological and developmental disorder that impacts the developing brain. Over time, children with this condition lose their ability to use the muscles necessary for eye and body movements, as well as those for speech. Rett syndrome occurs almost exclusively in females.
Most children who have Rett Syndrome experience seizures. These seizures can be difficult to control. There is no cure for Rett syndrome.
The Epilepsy Center at Children’s Health is the first program in the country to be certified by the Joint Commission, the nation’s preeminent standard-setting accrediting and certifying regulatory body in healthcare. We are also a Level 4 Epilepsy Center, providing the highest level of treatment for children with epilepsy. That means we have experience identifying Rett Syndrome, and in researching the latest advances in treatment for the condition.
Our interdisciplinary medical team, which includes genetic counselors, has the experience to not only comprehensively diagnose children with this condition, but we remain the area’s only center to perform the most advanced procedures and therapies for the treatment of epilepsy.
At Children’s Health, our treatment includes education and support for the whole family. In addition, the Epilepsy Center works with referring physicians and area Emergency Departments to:
- Provide seizure safety education programs
- Expedite appointments in order to get your child evaluated quickly
Rett Syndrome is often associated with seizures. Children with Rett Syndrome almost always exhibit the loss of previously acquired language or motor skills.
A child with Rett syndrome may have some or all of these symptoms:
- Abnormal hand movements
- Agitation and irritability
- Breathing problems
- Cognitive (thinking) disabilities
- Curvature of the spine (scoliosis)
- Irregular heartbeat (arrhythmia)
- Loss of communication abilities
- Loss of normal movement and coordination
- Slowed growth
- Unusual eye movements
Test and Diagnosis
To diagnose epilepsy, your physician will do a detailed physical exam of your child, ask you about your child’s past medical history and family history, and learn as much as possible from you about how a seizure started and what you observed.
If Rett Syndrome is suspected, testing may be prescribed including a blood test and electroencephalogram (EEG) and brain imaging to determine where in the brain the seizures are coming from, and to determine if your child has Rett Syndrome. An EEG is performed by placing electrodes on the scalp and recording the electrical activity of the brain.
Rett Syndrome treatment is aimed at finding the best way to treat and control the seizures. Treatment is highly individualized and may include:
Anti-epileptic drugs (AEDs)
A ketogenic diet, which includes a regimen of high-fat, low-carbohydrate foods.
Developmental assessments should begin as early as possible. Physical, occupational, speech, and social/play therapies and an enriched environment are important for children with Rett Syndrome.
What causes Rett Syndrome?
Rett Syndrome is a genetic disorder with no known cause.
How does Rett Syndrome relate to epilepsy?
Rett Syndrome affects the way the brain develops, which can affect the nerve cells in the brain and cause seizures.
What is epilepsy?
Epilepsy is a condition that affects how the nerve cells in the brain communicate with each other. When the normal electrical activity in the brain interferes with this communication process, seizures can occur.
What are the symptoms of a seizure?
The epilepsy symptoms most people recognize are shaking (called convulsions) combined with the body getting rigid, clenching the jaw, and biting the tongue. These are called tonic-clonic seizures and many people still know them as grand mal seizures. But some seizures are barely noticeable. Children may stare into space, stop talking abruptly and then start talking again, or start repetitious movements like chewing their lips or moving a hand. These types of seizures are called absence seizures, which used to be known as petit mal seizures. Sometimes a child may experience smelling something that isn’t there, numbness or a tingling sensations before the seizure. These are called auras.
What should I do while my child is having a seizure?
If the seizure is small twitching or staring, they should come out of it easily. For convulsions, make sure your child is in a chair that they can’t fall out of or lying on the floor with a pillow under their head. Turn their head to the side, but NEVER try to put anything into their mouth. Do not shake or hit them or shout at them. If the seizure lasts for more than five minutes or seems violent, call 9-1-1.
After a seizure, your child may be confused, foggy or tired. If they want to lie down, let them.
How is epilepsy treated?
There is no one specific treatment for any child with epilepsy. Each treatment plan is developed based on the child’s diagnosis and symptoms. For many children, medication can control seizures. Special diets can also help. If seizures happen so often that they reduce the child’s quality of life, surgery may be necessary. Surgery can include removing the section of brain where seizures originate or implanting a small device that regulates electronic brain activity.
What are the side effects of epilepsy treatment?
There can be side effects from treatment as well as from the disorder. Treatments can cause dizziness, fatigue and lead to balance problems. Seizure drugs can also cause bone density loss. Living with epilepsy can be stressful. A child may feel isolated, alone or depressed. Support groups and counseling can help.
Where can I find a support group?
Our Epilepsy Center will provide you with resources to help both you and your child. The Resources link on this webpage is also a good source for more information about epilepsy and support groups.