Medical questions & health advice by board certified doctors
"Is Rett Syndrome a form of autism?"
The doctor says my cousin has a form of Rett Syndrome. What is this?
Rett Syndrome is a neurodevelopmental disorder that results in major developmental challenges for the affected individual. This requires significant involvement of the family, affected patient and the pediatrician. I would strongly recommend that you and your family work closely with your pediatrician to help your cousin. Rett syndrome, like autism, is a neurodevelopmental disorder. This means that they both are disease where the brain does not form properly and therefore affects that patient's overall function in terms of physical, social and mental capabilities. Rett syndrome is similar to autism, however is a distinct syndrome. We often do not classify Rett syndrome as a form of autism (or said in another way -- we do not consider Rett syndrome as an autism spectrum disorder) as there is a known specific cause of Rett Syndrome. In general, autism spectrum disorders have no known cause. It is similar in symptoms, but a different disorder. Rett syndrome is caused by a specific mutation in a gene. This mostly only affects female children. There are many therapies, including speech therapy and physical therapy that can be helpful in the patient's development. There are also occasionally other physical problems that should be addressed. This is unfortunately a serious condition. Talk to your cousin's pediatrician.