MECP2 Duplication Syndrome

What are the signs and symptoms of MECP2 duplication syndrome?

The age when symptoms of MDS syndrome begin and the severity of symptoms can vary. Most children with MDS syndrome have delayed development that parents or healthcare providers notice in the first year of life that continues as the child gets older. Many children do not develop verbal language skills but often learn to use sign language. Most children have some intellectual disability, and they develop epilepsy that is sometimes difficult to treat. Some children also have severe or repeated infections.

What tests are used to diagnose MECP2 duplication syndrome?

Since the signs and symptoms of MDS are common to many disorders, a blood test is needed for a diagnosis by checking for a genetic change in the MECP2 gene on the X chromosome.

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

• Lack of speech
• Balance and coordination problems (including the inability to walk in many cases)
• Anxiety and social-behavioral problems
• Intellectual and developmental disabilities
• Epilepsy that is hard to treat, known as refractory epilepsy

How is MECP2 duplication syndrome treated?

Because of its genetic nature, there is no cure for MDS 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 with MDS in our Rett Clinic.

Some treatment approaches include medications to address possible seizures. Lung specialists (pulmonologists) may be needed for frequent lung infections.

Feeding problems may also occur, requiring some children to need supplemental food from a feeding tube.

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 children adapt to the symptoms of MDS.

Why choose us for the treatment of MECP2 duplication syndrome?

Our team has developed a wealth of experience and knowledge about MDS, 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 clinical trials available for MDS.

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 MDS 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.

• The 401 Project provides information about MECP2 duplication syndrome and research that is being done to find a cure.
• The National Institutes of Health, Genetic and Rare Diseases Information Center provides information about MECP2 duplication syndrome, research and support resources.
• Rett Syndrome Research Trust funds Rett syndrome research and provides resources to support families affected by Rett syndrome and Mecp2 duplication syndrome.
• Rocky Mountain Rett Association provides regional support for kids with Rett Syndrome, MDS, CDD and FOXG1 syndrome and their families including education and fundraising events.