Rett Syndrome

What is Rett Syndrome?

Rett Syndrome is a condition that falls under the category of neurological conditions. Specifically, it is a neurodevelopmental condition or brain disorder. While this brain disorder is quite rare, it is also severe in nature. Rett syndrome affects girls and is usually diagnosable when the child is still an infant.

When a child suffers from Rett syndrome, their brain has developmental issues and abnormalities. At first, this condition may not be evident but as they begin to grow, neurological deficiencies or developmental delays will begin to show. In fact, some children develop normally at birth and at some point when they are between 6 months of age and 12 months of age begin to lose some of their developmental progress.

The cause of Rett syndrome is a genetic mutation. There are different levels of severity for this condition and different degrees of genetic mutation. Essentially, the condition is caused by a mutation of the X chromosome, specifically in the MECP2 gene. Rett syndrome is not considered to be an inherited condition, meaning that parents are not necessarily carriers. Instead, it is a mutation that occurs as a fetus develops. The reason that some children experience this mutation is unknown.

What are the Symptoms of Rett Syndrome?

A few of the earliest symptoms of Rett syndrome are a loss of muscle tone and slowing in the growth of a child’s head. Along with the changes to their muscle tone, babies with Rett syndrome may also lose the use of their hands and arms, even if they have developed normally up until that point. Communication also becomes an issue with children who have been diagnosed with this condition. This can include an inability to speak or express themselves, problems with eye contact, and the like. Breathing and respiratory issues, irritability, cognitive impairments, chronic pain, heart problems, and seizures can also occur among numerous other symptoms.

How is Rett Syndrome Treated?

Rett syndrome is an incurable genetic disorder. However, there are treatments that can provide support and help with certain symptoms of the condition. Regular medical monitoring from a team of specialists will help to deal with any issues as they arise and keep tract of cardiovascular, gastrointestinal, and skeletal health, among other areas of the body. The regular treatment and monitoring will help to detect declines or changes that could pose problems. Speech, physical and occupation therapy can help with developmental problems. Prescription medications may be helpful to reduce seizures, pain, and other health issues and nutritional and other support services can also be beneficial to improve an affected person’s quality of life.

Last Reviewed:
October 09, 2016
Last Updated:
August 23, 2017