What is Rett syndrome?

Rett syndrome is a brain disorder that occurs almost exclusively in girls. The most common form of the condition is known as classic Rett syndrome. After birth, girls with classic Rett syndrome have 6 to 18 months of apparently normal development before developing severe problems with language and communication, learning, coordination, and other brain functions. Early in childhood, affected girls lose purposeful use of their hands and begin making repeated hand wringing, washing, or clapping motions. They tend to grow more slowly than other children and about three-quarters have a small head size (microcephaly). Other signs and symptoms that can develop include breathing abnormalities, spitting or drooling, unusual eye movements such as intense staring or excessive blinking, cold hands and feet, irritability, sleep disturbances, seizures, and an abnormal side-to-side curvature of the spine (scoliosis).


Who is affected by Rett syndrome?
Rett syndrome almost always occurs in girls. Boys may also be affected, but it is rare. Approximately 1 per 10,000 girls ages 2 through 18 may develop Rett syndrome. All ethnic and racial groups can be affected by Rett syndrome.

How does typical Rett syndrome present?
Children with Rett syndrome will develop normally at first. In the early months of life, a child will not show signs of any difficulties. At some point, usually between 6 and 18 months, the child's development will stop. They will begin to show signs of losing skills (regression.) Head growth slows and the child will develop microcephaly (smaller head size than expected for age.) Children with Rett syndrome typically have: • Partial or complete loss of their ability to speak.
• Partial or complete loss of purposeful hand and finger movements • Difficulty walking or inability to walk.
• Stereotyped (near constant, repetitive) hand movements that usually include hand wringing, but may also involve clapping, tapping, rubbing, or hand to mouth movements. Purposeful hand movement is lost.
A child impacted by Rett syndrome may also have: • Poor brain growth and intellectual disability • Nutritional problems, growth failure, muscle wasting, low bone density.
• Abnormal breathing patterns with periods of over breathing mixed with slower breathing. This can be alarming to watch but is not dangerous. • Heart problems which may lead to abnormal heart rhythm.  • 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 How often a child has seizures will vary. Sometimes children have seizures during sleep which are not identified. The most common type of seizures seen in Rett syndrome are focal impaired awareness, tonic-clonic, tonic, and myoclonic seizures. About half of children with Rett syndrome and epilepsy have drugresistant seizures (seizures that do not respond to medical therapy.) Behavioral symptoms can sometimes be mistaken for seizures. Other symptoms related to Rett syndrome are more severe in children who also have seizures.

How is Rett syndrome diagnosed?
Rett syndrome is diagnosed by a healthcare provider and is based on a child's symptoms and developmental history. The healthcare provider will pay close attention to when a child reaches their developmental milestones (speech, hand and finger skills, walking). A loss of skills (clinical regression) occurs in all children diagnosed with Rett syndrome. The evaluation will include typical testing to diagnose epilepsy (medical and neurologic exam, blood tests, EEG and brain imaging) and will also include genetic testing. What EEG findings are seen with Rett syndrome?
In Rett syndrome, EEG testing is always abnormal. Changes in brain waves that are consistent with epilepsy are usually seen by about two years of age. Abnormal changes seen on an EEG test in a child with Rett syndrome include brain wave slowing, epileptiform discharges, seizures, and abnormal patterns.
The changes seen on EEG get worse as the disease progresses.
How is Rett syndrome treated?
No specific therapy exists for Rett syndrome. Treatment focuses on managing as best possible the different conditions that cause a person's Rett Syndrome symptoms: • A multidisciplinary team made up of different specialist providers (neurologist, orthopedist, internist, cardiologist, gastroenterologist) is helpful when caring for a child with Rett syndrome. • Physicians, nurses, physical and occupational therapist, social work, and nutrition teams all work together to help a child and family facing the challenges of Rett syndrome. • Treatment of motor problems, nutritional problems, seizures, behavior, orthopedic, pulmonary, cardiac, and gastrointestinal problems is often necessary. • Seizures can usually be treated with anti-seizure medications. However, sometimes medically prescribed diet therapy (ketogenic diet) and vagal nerve stimulator (VNS) are often used as add on treatments when seizures do not respond to anti-seizure medications. • There is no single "best" anti-seizure medication, the choice of medication will typically depend on the type or types of seizures. • If infantile spasms are present, treatment with hormonal therapy or vigabatrin can be helpful.