Rett Syndrome

What is Rett syndrome?

Rett syndrome is a neurological and developmental disorder that primarily affects girls. There are also several variants of Rett syndrome, each with slightly different symptoms and different genetic findings, which can affect boys as well.

Infants with Rett syndrome appear to grow and develop typically at first, but then stop developing and may lose skills and abilities. For example, many children stop using words and vocabulary they have learned. They frequently lose their ability to walk properly and also lose the ability to use their hands. Many children develop distinctive hand movements such as wringing, clapping or patting their hands.

Who gets Rett syndrome?

Rett syndrome is a genetic disorder that usually affects girls. It affects approximately one in every 10,000 to 15,000 live female births in the United States. Most male fetuses with this genetic mutation do not survive until birth.

What causes Rett syndrome?

Rett syndrome usually involves changes 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 and not inherited from parents.

Variants of Rett syndrome are caused by mutations in other genes, including CDKL5 and FOXG1.

In a 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. There are patients with other genetic changes, or mutations, who have very similar symptoms to patients with abnormalities on the MECP2 gene.

Helpful resources:

For local and regional support for kids with Rett Syndrome and their families including education and fundraising events:

• Rocky Mountain Rett Association

For information on the disease for newly diagnosed patients, research information and opportunities, fundraising and grants:

• International Rett Syndrome Foundation
• International CDKL5 Foundation
• Rett Syndrome Research Trust
• International FOX1 Foundation

What are the signs and symptoms of Rett syndrome?

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

Loss of developmental skills

Children with Rett syndrome start to show loss of developmental skills, such as communication skills and the ability to use their hands. Some kids repeatedly wring or rub their hands together or clap, which are common symptoms of the condition. Children also develop difficulty walking, and the growth of their head slows below normal.

After this period of loss of developmental skills, children’s cognitive 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?

Usually, a doctor is able to diagnose Rett syndrome based on the symptoms a child shows during a physical exam. A blood test may be used to confirm a diagnosis by checking for a genetic mutation in the MECP2 gene on the X chromosome; if this is negative, then other related genes may be tested, especially in Rett syndrome variants like CDKL5.

However, not all patients with an abnormality on the MECP2 gene have Rett syndrome, and some individuals without this specific gene abnormality may have the condition.

Symptoms to help diagnose Rett syndrome

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

• Loss of purposeful hand movements (this may include a slowing down or stopping of holding, touching and reaching for objects) 
• Loss of speech 
• Balance and coordination problems (including the ability to walk in many cases) 
• Stereotypic hand movements (such as 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 
• Medically refractory 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.

Some treatment approaches include medications to address possible seizures, gastroesophageal reflux, constipation, 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 is 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 Children’s Hospital Colorado?

The Rett Clinic at Children's Colorado was established in 2011 thanks to a generous gift from the Rocky Mountain Rett Association. Because so many specialties are housed under the same roof at Children’s Colorado, we can be a total care home for children with Rett syndrome.

We have also been recognized as an International CDKL5 Foundation Center of Excellence to assist our research efforts.

About the Rett Clinic

The goal of the Rett Clinic is to provide the best consultative care and therapeutic advice for individuals with Rett syndrome and genetically related disorders. We provide up-to-date information on Rett syndrome to parents, physicians, therapists and care providers. We also participate in groundbreaking clinical research trials and work as a team with your family and primary care providers.

What to expect at your appointment

As a multidisciplinary clinic, we bring together 14 sub-specialty providers and therapists for an afternoon to provide a comprehensive evaluation for your child. Our providers work closely together and may refer children for additional help when needed.

During your visit, you may see providers from the following sub-specialties:

• Neurology
• Rehabilitation
• Developmental Pediatrics 
• Pulmonary 
• Cardiology 
• Orthopedic Surgery
• Genetics 
• Gastroenterology 
• Behavioral Psychology 
• Nutrition
• Physical Therapy
• Speech Therapy 
• Nursing
• Social Work 
• Occupational Therapy

Family networking and refreshments are provided by the Rocky Mountain Rett Association to help make your visit enjoyable. Because your appointment will last most of the afternoon, we encourage families to bring your child’s toys and favorite snacks.

Next steps after your appointment

After your appointment, you and your primary care provider will receive a detailed letter with recommendations for treatment, test and therapies from our Rett Clinic providers. Our nurse coordinator will work with you and your primary care provider to complete the recommendations listed.

Even though your child may attend the Rett Clinic once a year or every other year, our nurse coordinator will stay in contact with your family to be a resource and assist in completing the annual health maintenance recommendations.

Contact information

How to make an appointment at the Rett Clinic:
Please have your primary care provider or Children’s Colorado doctor contact the Rett Clinic at 720-777-4363 or email rettclinic@childrenscolorado.org.