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 don’t have symptoms until 6 to 18 months of age. Then, their development slows down.

Common Rett syndrome symptoms include:

• Loss of communication skills: Children stop using sounds and words they already learned. 
• Loss of some or all of their ability to use their hands 
• Difficulty walking 
• Distinctive hand movements: Wringing, clapping or patting 
• Developmental or intellectual differences: Autism or behavioral changes 
• Slowed head growth 

Children usually lose skills for this period of time but then begin to stabilize. Kids and teens with Rett syndrome may interact more with others and usually survive well into adulthood. They do generally live with developmental disabilities throughout their life.

There are different types of Rett Syndrome based on these symptoms. Not everyone with a loss-of-function change in MECP2 will have a regression. Understanding your child’s symptoms and their genetic test results is important to making a diagnosis and understanding their prognosis.

What tests are used to diagnose Rett syndrome?

Doctors may be able to diagnose Rett syndrome based on a child’s symptoms during a physical exam. A special test (blood or saliva) helps to confirm the diagnosis by checking for a genetic change in the MECP2 gene on the X chromosome.

Children with an abnormality of the MECP2 gene usually will have one of the different types of Rett syndrome. A specialist needs to confirm the type, especially for boys with Rett syndrome.

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 such as hyperventilation and breath holding 
• Anxiety and social-behavioral problems 
• Intellectual and developmental disabilities 
• Muscle floppiness (hypotonia) and muscle stiffness (hypertonia and rigidity) 
• Sleep problems 
• Epilepsy 

How is Rett syndrome treated? 

Due to its genetic nature, there’s no cure for Rett syndrome. Families have many questions about what that means and what to expect. New treatments, though not curative, are now available. We are here to help.

At Children's Hospital Colorado, our treatments can help reduce your child's symptoms and create the best possible quality of life. We see people of all ages for Rett syndrome and MECP2-related disorders in our Rett Clinic. For many families who travel to see us, we collaborate with your local treatment team.

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

If your child has feeding problems , they may 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 can also help with motor, communication, sleep and behavioral difficulties.  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 syndrome and we're recognized as national and international leaders in the field through our published research. We are designated as a Center of Excellence by the International Rett Syndrome Foundation. Your child may benefit from our research studies to find new and better ways to treat Rett syndrome.  Some of our families elect to participate in clinical trials to find new treatments. Families often have many questions about this. We are here to guide families who are interested in research. We strive to develop and provide the most up-to-date care based on research and care guidelines.

Doctors, therapists and other specialists from across our organization come together to 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 in one place.

Contact us

To make an appointment at the Rett Clinic, families and providers can contact the Rett Clinic at 720-777-4798 or email RettClinic@childrenscolorado.org.

• 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. 
• Rett Syndrome Research Trust funds Rett syndrome research and provides resources to support families affected by Rett syndrome.