In most cases, a child born with Rett syndrome is the only one in her family with the disorder. Rett syndrome occurs in people of all ethnic backgrounds. Studies estimate that Rett syndrome occurs in anywhere from 1 in 10,000 to 1 in 23,000 individuals worldwide.
Symptoms
Rett syndrome is usually not apparent at birth. In fact, many infants appear to have normal development up until about age 6-18 months. For some children, the symptoms come on quickly, and parents can note specific dates when particular symptoms began. For other children, the changes come more slowly.
As the child grows older, symptoms may include:
- Normal head circumference at birth followed by slowing of the rate of head growth (can occur as early as 3 months of age)
- Falling behind other children in the ability to do things like crawling, walking, or playing, or may lose the ability to do those things
- Poor weight gain
- Seizures may occur
- Loss of the ability to talk and communicate
- Repeated, stereotypical hand movements, such as hand wringing, clapping, washing, or hand-to-mouth movements
- Biting, chewing, or swallowing difficulties; may grind teeth (bruxism) or have involuntary tongue movements
- Muscle rigidity or spasms; walking is usually stiff-legged
Diagnosis
Diagnosis of Rett syndrome is usually based on the symptoms the child has and the history of the child’s change in development. Not all of the symptoms are seen in every individual, and symptoms may range from mild to severe. Criteria (symptoms) required to make a diagnosis of Rett syndrome include:
- Apparently normal development through at least the first 5-6 months of life
- Normal head circumference at birth followed by slowing of the rate of head growth
- Loss of acquired skills including language and communication
- Loss of purposeful hand movements and the start of stereotypical hand movements
- Difficulty walking (among those girls who can walk)
- Shakiness of the torso and/or limbs
There are, of course, many other disorders which may cause one or more of the symptoms seen in Rett syndrome. Therefore, other diagnostic tests may be done to exclude other disorders.
Treatment
There is no cure for Rett syndrome, so treatment focuses on managing the symptoms each individual has. Usually, this requires a team approach to maximize the individual’s abilities. If seizures are present, antiseizure medications may be given. Physical and occupational therapy help relieve muscle rigidity, improve motion of the joints, and prevent muscle contractures. Speech therapy can assist with communication and swallowing problems. A high-calorie diet may help with weight gain. Osteoporosis (weak bones) is common in individuals with Rett syndrome, so bone-strengthening medication (such as biophosphonate) and calcium supplements may be needed.
Rett syndrome research
Since mutations in MECP2 have been associated with Rett syndrome, researchers have been working to understand how the gene works in causing the syndrome, and learn more about its specific symptoms, such as breathing disorders.
The Rett Syndrome Research Foundation has a listing of current clinical studies related to Rett syndrome.
Sources:
About Rett Syndrome. Rett Syndrome Research Foundation. 21 Oct 2006 <http://www.rsrf.org/about_rett_syndrome/>.
Bernstein, Bettina. "Pervasive Developmental Disorder: Rett Syndrome." eMedicine 02 Aug 2006. Accessed 21 Oct 2006 <http://www.emedicine.com/ped/topic2653.htm>.
