What is Rett syndrome?
Kate, age 9,
living with
Rett syndrome
A complex genetic disorder with a range of symptoms that typically require lifelong care
Rett syndrome is a rare neurodevelopmental disorder that can cause lifelong complications. Your child’s experience is unique to them—the symptoms can affect every individual in different ways, at different times, and at different stages of the disorder.
As varied as these symptoms can be, your child can also experience unexpected setbacks called regressions. This may leave you and your family continually seeking new solutions to the ongoing changes in your child.
Along with a variation in symptoms, the ability to think and understand may also vary among children. Many children with Rett syndrome are cognitively aware but are unable to effectively act on their desire to communicate. This may leave them feeling frustrated and misunderstood.
What causes Rett syndrome?
In Rett syndrome, a majority of cases are caused by a mutation, or change, in the MECP2 gene
MECP2 is thought to control how many genes work, including those important for brain development.
In Rett syndrome, mutations in MECP2 are thought to disrupt the activity of these genes, which may be associated with the symptoms of Rett syndrome.
What are the symptoms of Rett syndrome?
There are four key features of Rett syndrome:
Partial or complete loss of purposeful hand use
As Rett syndrome progresses, a child’s purposeful hand skills may be lost. This can happen suddenly or gradually.
Unusual hand movements
Repetitive hand movements are characteristic of Rett syndrome, and may include wringing, washing, clapping, tapping, or repeatedly putting hands in the mouth.
Partial or complete loss of communication abilities
These regressions can include reduction or loss of babble speech, spoken language, and communication.
Reduced or impaired ability to walk
The inability to perform motor functions, called apraxia, can interfere with many body movements, including walking and crawling.
Additional challenges associated with Rett syndrome:
Irregular breathing patterns
Epileptic seizures
Movement disorders
Behavioral disturbances
Gastrointestinal disorders
Heart issues
Curvature of the spine, hip displacement, and bone fractures
Is DAYBUE right for your child?
Talk with your doctor about treatment with DAYBUE
The DAYBUE Treatment Discussion Guide is a tool you can use to have a discussion with your child’s doctor.
How is Rett syndrome diagnosed?
Diagnosing Rett syndrome involves the careful observation of your child's growth and development.
The diagnosis is usually considered when the doctor observes a slowing of head growth, a loss of skills or developmental milestones, or when a specific set of symptoms arise.
Although not required for a diagnosis, your doctor may order genetic testing. The genetic test looks for MECP2 mutations and can help provide an extra level of information that may be useful in understanding what the diagnosis may entail, as certain mutations can indicate the severity of the disorder.
Kate, age 9, living with Rett syndrome, with her dad and sister
What is a clinical diagnosis?
A clinical diagnosis of Rett syndrome is based on your child’s symptoms and behaviors that your doctor has observed in their office and what you have observed in your child at home.
Kate, age 9, living with Rett syndrome, with her dad and sister
The signs and symptoms of Rett syndrome: the management is as individual as your child
How is Rett syndrome managed?
A team comprised of a unique selection of doctors, specialists, and specialized therapists is needed to help manage these wide-ranging symptoms. And at home, children with Rett syndrome typically require lifelong care and may need assistance with many aspects of daily life.
Find a
specialist
The Physician Locator Tool can help you find a Rett syndrome specialist near you.
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