Video - Rett syndrome

Rett syndrome, originally termed cerebroatrophic hyperammonemia, is a rare genetic neurological disorder of the gray matter of the brain that almost exclusively affects females, though it has also been found in male patients. It is caused by a mutation of the MECP2 gene and is inherited in an X-linked dominant pattern.

The symptoms of Rett syndrome typically appear between 6 and 18 months of age and include slowed growth, loss of language and social skills, and the development of repetitive hand movements. Other symptoms can include seizures, scoliosis, and breathing abnormalities.

The diagnosis of Rett syndrome is based on a genetic test looking for the MECP2 mutation, and the treatment focuses on managing symptoms with selective serotonin reuptake inhibitors (SSRIs) to help manage behavioral issues. Additionally, a multidisciplinary team that includes occupational, speech, and physical therapists can help optimize a child's life.