RETT SYNDROME

Everyday, approximately 20 girls are born with
Rett Syndrome around the world.

To learn more about reversing Rett Syndrome, click here...

About Rett Syndrome

The Syndrome

Rett syndrome is a neurological disorder and the most physically disabling of the autism spectrum disorders.  After normal early development, girls with Rett syndrome lose the ability to speak and begin to have difficulty with motor control around 6-18 months of age.  They often lose functional use of the hands when characteristic hand movements begin.  The onset of this period of regression is sometimes sudden.  Other early symptoms may include problems crawling or walking and diminished eye contact.

The disorder was identified by Dr. Andreas Rett, an Austrian physician who first described it in a journal article in 1966. It was not until after a second article about the disorder was published in 1983 that the disorder was generally recognized.

The course of Rett Syndrome, including the age of onset and the severity of symptoms, varies from child to child.  Hypotonia (loss of muscle tone) is usually the first symptom. The loss of functional use of the hands is followed by compulsive hand movements such as wringing and washing. Other symptoms may include seizures, disordered breathing, irregular sleep patterns, and scoliosis.

Apraxia — the inability to perform motor functions — is perhaps the most severely disabling feature of Rett syndrome, interfering with every body movement.

Rett Syndrome is caused by mutations in the MECP2 gene, which is found on the X chromosome. Most of the time, the mutation is spontaneous meaning that it is not passed down in a family.  Scientists identified the gene — which is believed to control the functions of several other genes — in 1999. The MECP2 gene contains instructions for the synthesis of a protein called methyl cytosine binding protein 2 (MeCP2), which acts as one of the many biochemical switches that tell other genes when to turn off and stop producing their own unique proteins.

Rett Syndrome affects one in every 10,000 to 23,000 live female births.  It occurs at random in all racial and ethnic groups worldwide.  Girls have two X chromosomes, but only one is active in any given cell. This means that in a child with Rett syndrome only about half the cells in the nervous system will use the defective gene. Some of the child's brain cells use the healthy gene and express normal amounts of the protein.  The scenario is different for boys who have a MECP2 mutation known to cause Rett syndrome in girls. Because boys have only one X chromosome, they lack a back-up copy that could compensate for the defective one, and they have no protection from the harmful effects of the disorder. Boys with such a defect often die shortly after birth.

To read more about the dramatic 2007 mouse model symptom reversal and the science behind reversing Rett Syndrome, visit the Rett Syndrome Research Trust website.

Newly-diagnosed families can find helpful resources and support at Girl Power 2 Cure.