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Rett Syndrome
Wednesday, 25 June 2003
Wednesday, 04 February 2004


Rett syndrome is a neurodevelopmental disorder that affects mostly females early in childhood. Followed by a period of normal development between 6-18 months, these girls enter a period of regression that includes loss of speech and hand skills. Rett syndrome, because it is a neurological disorder, affects the normal functioning of the brain.


Rett syndrome occurs in about 1 in 10,000 births, and mostly in females. Rett can occur in males, but it is usually associated with miscarriage, stillbirth, or early death.

Signs and Symptoms

Symptoms usually appear in early childhood between 6 and 18 months of age and reflect a loss of normal brain functioning. The most well known symptoms are loss of communication skills which have been called “autistic-like” and loss of purposeful use of the hands. The child loses the ability to express feelings, avoids eye contact and grinds his/her teeth which are also seen in children with autism. The unusual hand movements are repeated wringing and waving. Other symptoms to appear are seizures, irregular breathing, and apraxia or motor control problems. Apraxia is the inability for the body to perform programmed motor movement, as seen in a wide based and stiff legged style of walking, commonly seen in children with Rett syndrome. These problems make it difficult for the child to function normally in everyday life. About 15% of children have the atypical form of Rett syndrome, which is less severe. They maintain some use of their hand and motor skills, and may not lose their ability to swallow. They can also speak on some occasions. For example, they may speak if they want or need something.

Possible Causes

Rett syndrome is caused by mutations in the MECP2 gene, which is found on the X chromosome. This MECP2 gene makes a protein that is thought to bind to DNA and control how the DNA will be expressed in the child. This protein inhibits the function of the DNA, thus causing a “brake” in the DNA system. If this MECP2 gene is mutated, the important braking protein that it makes will not be working the way it normally should be. The actual function of the MECP2 protein is unknown, but there is a lot of current research going on.


Because Rett is caused by a mutation on the X chromosome, genetic testing is available to confirm the diagnosis around 80% of the time. Similarities between the symptoms of autism, cerebral palsy, and developmental delay cause misdiagnosis of Rett. An important sign in infants to help diagnose Rett syndrome is if there is a lag in brain and head growth.


There is no single cure for Rett syndrome, but there are several treatment options. Treatment programs are available for the orthopedic problems such as physical therapy and occupational therapy. Special education programs are available through the school system for the learning disabilities. Medication is available for managing the seizures that may occur. Special nutritional programs may be required to maintain sufficient weight.


The majority of individuals with Rett are expected to reach adulthood, however, most don’t regain the ability to use their hands or to speak. There is an increased risk of sudden, unexplained death which often occurs from respiratory arrest.

Connect with other parents

In the spirit of community and support, Madisons Foundation offers the unique service of connecting parents of children with rare diseases. If you would like to be connected to other parents of children with this disease, please fill out this brief form.


Rett Syndrome Research Foundation
This website, founded by 6 parents of children with Rett Syndrome, is very helpful to other parents. It talks about current research for this disease, as well as giving a quick link to what Rett is and how to diagnose it. It has updated news on the new findings as well as a newsletter and a mailing list you can join.

National Institute of Neurological Disorders and Stroke: Info about Rett Syndrome.
This website has another well written description of Rett Syndrome and how one can diagnose it, as well as the treatment options. It has a good link to other Rett Syndrome websites including ongoing clinical trials.

International Rett Syndrome Organization
A very good website on Rett Syndrome that discusses current research, what is new with the disease, its prognosis, treatment, etc. There is a great link for support and resources on this topic where parents can go for more info or help.

Google Search for Rett Syndrome

References and Sources