Treatment:

Treatment may include:

• Assistance with feeding, diapering, and treating symptoms like constipation and GERD).
• Supplemental feeding for those with slowed growth. Diets high in calories and fat, as well as nasogastric tube feeds, can help increase weight and height. Weight gain, in turn, may improve alertness and social interactions. If the person with Rett syndrome is prone to breathing in food, a feeding tube into the stomach may be recommended.
• Physical therapy for the hands to prevent them from contracting. Also, weight bearing exercises and frequent followup are recommended for those with scoliosis.
• Medication, like carbamazepine, to treat seizures.

Other medications or supplements that have been used or studied include:

• L-dopa for motor rigidity in later stages of the disease
• L-carnitine -- some families report improvement in language skills, increased muscle mass, decreased constipation, increased alertness, less daytime sleeping, increased energy, and improved quality of life while their daughters took carnitine
• Folate and betaine
• Dextromethorphan
• Bromocriptine

Given the discovery of a genetic mutation associated with Rett syndrome, research using gene therapy is underway. Stem cell therapy, alone or in combination with gene therapy, is another hopeful treatment that requires thorough study.

Problems in breathing pattern may be the most upsetting and difficult symptom for parents to watch. Why they happen and what to do about them is not well understood. Studies are underway to evaluate various treatments, such as buspirone (Buspar), naltrexone, or magnesium citrate.

Most experts in Rett syndrome recommend that parents remain calm through an episode of irregular breathing like breath holding. It may help to remind yourself that normal breathing always returns and that your daughter will grow accustomed to the abnormal breathing pattern.

Support Groups:

International Rett Syndrome Association - www.rettsyndrome.org

Expectations (prognosis):

The progression of this disease usually levels off once the patient reaches teenage years. For example, if seizures or breathing abnormalities are present, they tend to lessen in late adolescence.

Each child's developmental regression or delays are different, so it is hard to generalize. Usually, a child with Rett syndrome sits up properly but may not crawl. For those who do crawl, many do so without using their hands (for example, "combat crawling" on the tummy).

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.