Rett syndrome is a rare genetic disorder that affects brain development, primarily in girls. It is usually caused by a mutation in the MECP2 gene, which provides instructions for making a protein that is important for brain development and function.

Symptoms of Rett syndrome typically appear in early childhood, around 6-18 months of age, and can include loss of speech and motor skills, difficulty with coordination and movement, repetitive hand movements, breathing problems, seizures, and cognitive impairment. Other symptoms may include problems with social interaction, anxiety, and sleep disturbances.

There is currently no cure for Rett syndrome, and treatment focuses on managing symptoms and improving quality of life. Treatment may include physical therapy to improve motor skills and coordination, speech therapy to help with communication, and medication to manage seizures or behavioral problems.

Research is ongoing to better understand the causes of Rett syndrome and to develop new treatments. Early diagnosis and treatment can help to improve outcomes for children with Rett syndrome, and genetic counseling may be recommended for families with a history of the disorder.

Rett syndrome is a rare genetic disorder. Classic Rett syndrome, as well as several variants with milder or more-severe symptoms, can occur based on the specific genetic mutation.

The genetic mutation that causes the disease occurs randomly, usually in the MECP2 gene. Only in a few cases is this genetic disorder inherited. The mutation appears to result in problems with the protein production critical for brain development. However, the exact cause is not fully understood and is still being studied.

Rett syndrome in boys

Because males have a different chromosome combination from females, boys who have the genetic mutation that causes Rett syndrome are affected in devastating ways. Most of them die before birth or in early infancy.

A very small number of boys have a different mutation that results in a less destructive form of Rett syndrome. Similar to girls with Rett syndrome, these boys will likely live to adulthood, but they're still at risk of a number of intellectual and developmental problems.

There's no known way to prevent Rett syndrome. In most cases, the genetic mutation that causes the disorder occurs spontaneously. Even so, if you have a child or other family member with Rett syndrome, you may want to ask the doctor about genetic testing.

Although there is no cure for Rett syndrome, treatments are directed toward symptoms and providing support, which may improve the potential for movement, communication and social participation. The need for treatment and support doesn't end as children become older — it's usually necessary throughout life. Treating Rett syndrome requires a team approach.

Treatments that can help children and adults with Rett syndrome include:

• Regular medical care. Management of symptoms and health problems may require a multispecialty team. Regular monitoring of physical changes such as scoliosis and GI and heart problems is needed.
• Medications. Though medications can't cure Rett syndrome, they may help control some signs and symptoms associated with the disorder, such as seizures, muscle stiffness, or problems with breathing, sleep, the gastrointestinal tract or the heart.
• Physical therapy. Physical therapy and the use of braces or casts can help children who have scoliosis or require hand or joint support. In some cases, physical therapy can also help maintain movement, create a proper sitting position, and improve walking skills, balance and flexibility. Assistive devices may be helpful.
• Occupational therapy. Occupational therapy may improve purposeful use of the hands for activities such as dressing and feeding. If repetitive arm and hand movements are a problem, splints that restrict elbow or wrist motion may be helpful.
• Speech-language therapy. Speech-language therapy can help improve a child's life by teaching nonverbal ways of communicating and helping with social interaction.
• Nutritional support. Proper nutrition is extremely important for normal growth and for improved mental, physical and social abilities. A high-calorie, well-balanced diet may be recommended. Feeding strategies to prevent choking or vomiting are important. Some children and adults may need to be fed through a tube placed directly into the stomach (gastrostomy).
• Behavioral intervention. Practicing and developing good sleep habits may be helpful for sleep disturbances.
• Support services. Academic, social and job-training services may help with integration into school, work and social activities. Special adaptations may make participation possible.