Treatment:

Treatment may include:

• Assistance with feeding and diapering
• Methods to treat constipation and GERD
• Physical therapy to help prevent the hands from contracting
• Weight bearing exercises for those with scoliosis

Supplemental feedings can help those with slowed growth. A feeding tube may be needed if the patient breathes in (aspirates) food. Diets high in calories and fat, as well as nasogastric tube feeds, can help increase weight and height. Weight gain may improve alertness and social interactions.

Medications such as carbamazepine may be used to treat seizures. Other medications or supplements that have been used or studied include:

• Bromocriptine
• Dextromethorphan
• Folate and betaine
• L-carnitine, which may help improve language skills, muscle mass, alertness, energy and quality of life while decreasing constipation and daytime sleepiness
• L-dopa for motor rigidity in later stages of the disease

Stem cell therapy, alone or in combination with gene therapy, is another hopeful treatment.

Support Groups:

International Rett Syndrome Association - www.rettsyndrome.org

Expectations (prognosis):

The disease slowly progresses until the patient is a teenager. Then, symptoms may improve. For example, seizures or breathing problems tend to lessen in late adolescence.

Developmental regression or delays vary. Usually, a child with Rett syndrome sits up properly but may not crawl. For those who do crawl, many do so by scooting on their tummy without using their hands.

Similarly, some children walk independently within the normal age range, while others are delayed, don't learn to walk independently at all, or don't learn to walk until late childhood or early adolescence. For those children who do learn to walk at the normal time, some keep that ability for their lifetime, while other children lose the skill.

Life expectancies are not well studied, although survival at least until the mid-20s is likely. The average life expectancy of a girl with Rett syndrome may be mid-40s. Death is often related to seizure, aspiration pneumonia, malnutrition, and accidents.

Calling your health care provider:

Call your health care provider if you have any concerns about your child's development, if you notice a lack of normal development with motor or language skills in a child, or if there are associated disorders that need treatment.