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.

Rett Syndrome Causes

Rett syndrome is caused by a mutation on the X chromosome. While researchers know which gene is affected and that the mutation can lead to Rett syndrome, they do not know exactly what the gene does or how the mutation creates the condition. What they do know at this time is that the mutation seems to create problems with the production of proteins that are necessary for brain development, and there could be environmental factors that are not currently known. Studies by researchers are ongoing into this condition.

Rett syndrome is a genetic condition, but very few cases of it are inherited. It affects girls at a much higher rate than it affects boys, in part because most boys who develop it are more seriously affected. Most boys who have it die in delivery or early infancy.

Most cases are diagnosed when a child is between the ages of one and four.

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.

Rett Syndrome Prevention

Since Rett Syndrome is almost always the result of a rare and spontaneous genetic mutation that is still being studied, there is no way to predict when the mutation will happen or to prevent the mutation from occurring in the first place.

Genetic testing does help in determining if a child has the condition, but it is typically not done until a child starts showing symptoms. Because there are a few cases that are the result of an inherited mutation, families with a child or family member that has already been diagnosed may want to talk to their child’s doctor about having the testing done. It will not prevent Rett syndrome from occurring, but it will at least tell the parents if a child has it, what form they have, and what parts of the child’s development are most likely to be affected. Having this knowledge will aid greatly in treating it.