Rett Syndrome

What is Rett syndrome?

Classic or typical Rett syndrome is a neurological and developmental disorder that primarily affects girls. There are several variants, or types, of Rett syndrome. Prior to the availability of genetic testing, other distinct disorders were lumped together with Rett syndrome. Now, with genetic testing, we recognize each as a distinct disorder with different symptoms, different genetic findings and different treatments. We also now recognize that boys can be affected as well.

Infants with typical Rett syndrome appear to grow and develop normally at first, but then they stop developing and may lose skills and abilities. For example, children stop using sounds, words and vocabulary they have already learned. They often have difficulty walking properly and also lose some or all of their ability to use their hands. Children develop distinctive hand movements such as wringing, clapping or patting their hands. Some children may only have some of these symptoms.

What causes Rett syndrome?

Rett syndrome involves a change or misspelling in a gene called the MECP2 gene, which occurs on the X chromosome. Even though this is a genetic disorder, the change on the gene is usually new to the patient and not inherited from parents. In other words, a new spelling mistake happened around the time the egg and sperm came together. This is not caused by something the parents did or didn’t do.

In a very, very small percentage of patients (less than 1%), there may be a female relative who carries the gene but does not have symptoms of the disorder.

Who gets Rett syndrome?

Rett syndrome is a genetic disorder that usually affects girls. It affects about one in every 9,000 to 15,000 live female births in the United States. Males with Rett-related disorders are so rare that we do not know how often they happen.

Helpful resources

Rocky Mountain Rett Association provides regional support for kids with Rett Syndrome and their families including education and fundraising events.
International Rett Syndrome Foundation provides information about the disease for newly diagnosed patients and information about Rett syndrome research.
International Foundation for CDKL5 Research provides information about Rett syndrome research as well as education and support resources for families affected by Rett syndrome.
Rett Syndrome Research Trust funds Rett syndrome research and provides resources to support families affected by Rett syndrome.

What are the signs and symptoms of Rett syndrome?

The age when the symptoms of Rett syndrome begin and the severity of symptoms vary. Most children with Rett syndrome develop normally until 6 to 18 months of age. Then, the rate of developmental progress begins to slow down.

Children with Rett syndrome then show loss of developmental skills, such as communication skills and the ability to use their hands. Some children repeatedly wring or rub their hands together or clap, which are common symptoms of the condition. Children may have difficulty walking, and the growth of their head may slow below the normal rate.

After this period of loss of developmental skills, children’s skills generally begin to stabilize. Individuals with Rett syndrome may become more interactive with others and may survive into adulthood, although they will continue to be challenged by developmental disabilities throughout their life.

What tests are used to diagnose Rett syndrome?

Doctors may be able to diagnose Rett syndrome based on the symptoms a child shows during a physical exam. A blood test is always used to confirm a diagnosis by checking for a genetic mutation in the MECP2 gene on the X chromosome.

However, not all children with an abnormality of the MECP2 gene have Rett syndrome, and some individuals without this specific gene abnormality may actually have the condition. Some individuals with an abnormality of the MECP2 gene may have a variant of Rett syndrome. A specialist is often needed to clarify.

Your child’s doctor will look for the following symptoms to help make a diagnosis:

Loss or reduction of purposeful hand movements such as not holding, touching and reaching for objects
Loss or reduction of speech such as not using words anymore
Balance and coordination problems, including the ability to walk in many cases
Hand movements such as uncontrollable hand wringing, rubbing or tapping
Breathing problems during the day such as hyperventilation and breath holding
Anxiety and social-behavioral problems
Intellectual and developmental disabilities
Epilepsy

How is Rett syndrome treated?

Because of its genetic nature, there is no cure for Rett syndrome at this time. At Children’s Hospital Colorado, our treatments are designed to help alleviate your child’s symptoms and to create the best possible quality of life. We see people of all ages for Rett syndrome and MECP2-related disorders in our Rett Clinic.

Some treatment approaches include medications to address possible seizures, gastroesophageal reflux, constipation, irregular heart rhythms, sleep problems, muscle stiffness, breathing problems and mood imbalances.

Feeding problems may also occur, requiring some patients to need supplemental food from a feeding tube. Scoliosis (a curved spine) may also require orthopedic interventions like braces or surgeries.

Physical, occupational and speech therapy are also used to address motor, communication, sleep and behavioral difficulties. Although no cure is available, these supportive treatments help most patients adapt to the symptoms of Rett syndrome.

Why choose us for the treatment of Rett syndrome?

Our team has developed a wealth of experience and knowledge about Rett and Rett-like disorders, and we’re recognized as national and international leaders in the field through our published research. We strive to develop and provide the most up-to-date care based on research and care guidelines. We participate in the latest clinical trials.

Our sub-specialty providers and therapists come together to evaluate and develop a treatment plan that is tailored to your child’s specific needs. Because so many specialties are housed under the same roof at Children’s Colorado, we can provide all the care that children with Rett syndrome need.

Contact us

To make an appointment at the Rett Clinic, families and providers can contact the Rett Clinic at 720-777-4363 or email rettclinic@childrenscolorado.org.