Rett Syndrome

Rett Syndrome is a rare, genetic neurological disorder that tends to affect girls more often than boys. The condition impacts nearly every neurological function. Children with Rett Syndrome often have normal development and growth but then begin to experience slowing of development, trouble with the hand movement, problems with walking, seizures, and intellectual disability.

While Rett syndrome can be inherited in most cases, it is caused by a random mutation with no known cause.  There are some instances where a female family member may carry a mutation of the MECP2 gene, but do not show symptoms, and then pass the mutation to her child.

There is no cure for Rett Syndrome. Treatment is focused on managing the symptoms of the condition to support a better quality of life.

Symptoms

Rett Syndrome looks different in different children. When it starts and the severity of symptoms varies from each child.

A child with Rett Syndrome may appear to grow and develop normally before abnormalities gradually appear such as a loss of muscle tone, trouble feeding, jerkiness of limb movements. Overtime, children with Rett Syndrome may have trouble with the use of their hands or challenges speaking. Other early symptoms may include problems crawling or walking. In late stages of the disease, children may have reduced mobility, curvature of the spine, muscle weakness, spasticity, seizures; they may be unable to walk and talk.

There are four stages of Rett Syndrome:

Stage I – Early Onset Stage
Age: 6 months to 1.5 years
Duration: Months

Stage II – Rapid Destructive Stage
Age: 1 to 4 years
Duration: Weeks to Months

Stage III – Plateau Stage
Age: Preschool to adulthood
Duration: Decades

Stage IV – Late Motor Deterioration Stage
Age: When ambulation is lost (those who never ambulate move from Stage II to IV)
Duration: Up to decades

Diagnosis

Specialists familiar with Rett Syndrome and other neurological disorders, such as our board-certified pediatric neurologists, typically diagnose Rett Syndrome by observing the signs and symptoms of the child. A physical exam and patient history also aid in the diagnosis. Sometimes a genetic test is ordered, however, it’s not necessary for a clinical diagnosis.

Rett Syndrome Treatment

There is no cure for Rett Syndrome — treatment is focused on managing the symptoms caused by the condition to improve the child's quality of life. Treatment may include medications to control seizures or improve muscle movement as well as physical therapy, speech therapy, occupational therapy, and behavioral health support. Important is to find a community to help provide you and your family emotional support. Look for online support and information from organizations such as the Rett Syndrome Research Trust and RettSyndrome.org.