Rett Syndrome | Frequently Asked Questions

Why is Rett syndrome usually only found in girls?

Females have two copies of the X chromosome and males have one X and one Y chromosome. The MECP2 gene is found on the X chromosome, so females born with one normal and one changed copy of the MECP2 gene usually develop the symptoms of Rett syndrome. Since males only have one copy of the X chromosome, they don’t have a normal backup copy of the MECP2 gene. Therefore, males with a MECP2 gene change may have an earlier onset of more severe symptoms (congenital encephalopathy). In rare cases, males do have classic Rett syndrome.

My child was fine. Why does Rett syndrome seem to suddenly appear out of nowhere?

The progression of Rett syndrome starts with the disease-causing change in the MECP2 gene. The MECP2 gene makes the MECP2 protein that is essential for brain development and the normal functioning of nerve cells. The problems associated with Rett syndrome begin when the MECP2 protein fails to carry out its duties — just around the time your baby should be reaching important milestones.

Who’s at risk for Rett syndrome?

No risk factors for Rett syndrome have been identified, other than being female. The disease causing gene variation involved in Rett syndrome occurs at random in a child’s DNA.

How common is Rett syndrome?

The condition affects about one out of 10,000 live female births. Rett syndrome in boys is extremely rare.

If I have one child with Rett syndrome, do my chances of having another child with the condition increase?

Your chances of having another child with Rett syndrome are very small — less than 1 percent. Although Rett syndrome is a genetic disorder, the disease-causing gene change is rarely inherited from parents. It’s a common misconception that “genetic” always means “inherited.” In fact, “genetic” only means “caused by a gene.” Prenatal testing is available for families with a daughter who has an identified MECP2 mutation.

Can Rett syndrome be prevented?

There is no known way to prevent Rett syndrome.

Is there a cure?

There’s no cure for Rett syndrome. However, research is underway on new drugs that may improve management of symptoms.

Will my child be able to attend school?

Your child should be able to attend school, but may need special accommodations. Getting early treatment, including physical therapy, speech therapy and occupational therapy, can help your child learn and communicate.

What’s the long-term outlook for my child?

Rett syndrome is a disease that progresses slowly throughout life. However, the speed at which it progresses varies greatly from child to child. Some children with Rett syndrome may have improvement in their symptoms between ages 2 and 10. During this time, your child may have an increased interest in surroundings, and improved alertness, attention span and communication skills. Many children with Rett syndrome will remain in this stage for the rest of their lives and have no further decline in communication or motor skills.

While it is known that Rett syndrome shortens lifespan, not much is known about specific life expectancy rates for people with Rett syndrome. It generally depends on the age when symptoms first begin and their severity. On average, most individuals with the condition survive into their 40s or 50s.

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