What is Rett syndrome?
Rett syndrome is a rare, severe neurological disorder. In the past, it was thought to be part of the autism, but now it is recognized as being genetically based.
Rett syndrome affects mostly girls, and it’s rare for patients to be able to live independently. When boys develop the Rett syndrome mutation, they rarely live past birth.
What causes Rett syndrome?
Most children who have Rett syndrome have a mutation on the X chromosome, although it is not known what this gene specifically does nor how it leads to Rett syndrome. Even though the cause of the disease is genetic, it is almost never inherited, and simply occurs as a chance mutation.
What are the symptoms of Rett syndrome?
The age of symptom onset for Rett syndrome varies, but the most common changes usually show when babies are between 12 and 18 months, though they can be sudden or more progressive. These changes include:
- Slowed brain growth leading to a small head
- Problems with hand movements and also muscle coordination
- No language skills and social anxiety
- Uncoordinated breathing and even seizures
- Tense and irritable disposition
How is Rett syndrome diagnosed?
A diagnosis of Rett syndrome is based on a clinical examination of the pattern of symptoms and behavior. Then, doctors rule out other possible conditions, such as autism, cerebral palsy, and metabolic disorders.
Genetic testing can help to confirm a diagnosis of Rett syndrome and also help predict how severe the specific case will be.
What are the available treatments for Rett syndrome?
There is no cure for Rett syndrome, so treatment is symptomatic and supportive. These options include physical, speech, and occupational therapy, behavioral therapy, and anti-seizure medications.
Other potentially effective treatment options are currently being researched.