Rett syndrome is a rare genetic disorder that affects brain development in girls. It is caused by mutations in the MECP2 gene, which provides instructions for making a protein that is important for brain function.
Rett syndrome is typically diagnosed in early childhood, usually between the ages of 6 and 18 months. Symptoms of Rett syndrome include:
The severity of symptoms can vary widely among individuals with Rett syndrome, even among those with the same genetic mutation. Symptoms typically worsen during early childhood and stabilize by age four or five.
There is currently no cure for Rett syndrome, and treatment is focused on managing symptoms and improving quality of life. Treatment options may include:
Medications: Medications such as anticonvulsants can help manage seizures, while other medications may be prescribed to address specific symptoms such as anxiety or sleep disturbances.
Therapy: Physical therapy, occupational therapy, and speech therapy can help improve motor function, communication skills, and overall quality of life.
Supportive care: Individuals with Rett syndrome may require additional support with activities of daily living such as eating, dressing, and grooming. Assistive devices such as communication boards or mobility aids may also be helpful.
Clinical trials: There are ongoing clinical trials investigating potential new treatments for Rett syndrome, including gene therapy and drug therapies that target the underlying genetic mutation.