What is Rett Syndrome?

What is Rett Syndrome? | Dr. Ali Ghahary

Rett Syndrome Awareness Month is part of a long list of health conditions being promoted and recognized by the Government of Canada during the month of October. As part of Rett Syndrome Awareness Month, different iconic Canadian landmarks will be lighting up purple to show support and help raise further attention to this rare neurodevelopmental condition.

As mentioned, Rett syndrome is both a neurological and developmental condition that affects the brain. It is typically first diagnosed in infancy and is seen mostly in females (affecting 1 in every 10,000 births worldwide.) It can also be seen in males, though this is usually quite rare. During the first 5 to 6 months of a newborn’s life, development may appear to be normal. However, it is usually between months 6 through 18 that the baby’s development will either delay or regress if they have Rett syndrome. These delays and regressions often include the use of muscles, as well as with speech. One tell-tale sign of Rett syndrome is constant or repetitive hand movements, in addition to muscle stiffness and spinal/back problems (such as osteoporosis and scoliosis.) Things such as cognitive, motor, sensory, emotional and autonomic functions – including speech, movement, mood, cardiac function, breathing, chewing, and even digestion (such as chewing) can all be impacted. Individuals with Rett syndrome can also have epileptic seizures, may become malnourished, as well as be accident prone, and can also develop what’s known as aspiration pneumonia – an infection that occurs as a result of inhaling food or liquid into the lungs. A simple blood test to check for the MECP2 mutation can be done to confirm the diagnosis of Rett syndrome; however, having this MECP2 mutation present isn’t always enough, as it can be seen in other disorders too. Conditions such as autism and cerebral palsy are also often mistaken for Rett syndrome, or vice versa. Therefore, along with blood work, the diagnosis of Rett syndrome is also dependent on whether or not the patient meets certain criteria, such as having any of the symptoms mentioned above.

The life expectancy of individuals with Rett syndrome has not been closely researched, though it’s thought that the average life expectancy of an individual with Rett syndrome is somewhere in their 40s, possibly even much longer. Because Rett syndrome can come with many different challenges, Dr. Ghahary says that diagnosed individuals can benefit greatly from partaking in different activities, such as those that are social, recreational, and educational. It’s also important to ensure that these activities occur not just within communities, but in the home as well.

Much like diagnosing Rett syndrome is based on the symptoms the patient is experiencing, the treatment for Rett syndrome is also symptomatic and tends to require an approach that is multidisciplinary. A multidisciplinary approach is when various methods of treatment are used or tried together. For example, muscle relaxants may be needed to improve stiffness, while patients with Rett syndrome may also require anticonvulsant medications if they’re having seizures, as well as medications to help with motor skills, breathing, and so on and so forth. Not every patient with Rett syndrome will require the same treatment plan.