Rett Syndrome

Rett syndrome is a genetic neurological disorder that mainly affects the brain’s development. It primarily affects females and causes a loss of language and motor skills. Before the symptoms start to appear, the child has normal developmental milestones. Majority of all Rett syndrome cases are caused by a mutation in the methyl CpG binding protein (MECP2) gene. This gene controls the function of other genes and is needed for proper brain development. This syndrome mostly occurs spontaneously, although there can be asymptomatic female carriers who have the mutation, but do not show any clinical symptoms. It is very rare to get Rett syndrome affecting one in every 10,000 to 15,000 live female births in all racial/ethnic groups worldwide.

The symptoms of Rett syndrome are expected to occur after the first 6 months but are most pronounced from 12 to 18 months of age. There are usually no issues with the pregnancy and delivery of babies with Rett syndrome. Some of the main signs and symptoms include slowed growth, unusual hand movements, loss of communication abilities, and loss of movement/coordination skills. One of the first signs that can be seen is microcephaly which is when the head size is smaller than normal. The child may not be able to craw or walk which can lead to muscle stiffening and weakness. Some other symptoms that can occur as well but are less common are unusual eye movements, breathing problems, seizures, intellectual disabilities, scoliosis, sleep disturbances, and irregular heartbeat.

There are 4 stages of Rett Syndrome to characterize the different signs and symptoms. Stage 1 is early onset where the symptoms are subtle such as showing less eye contact or lose interest in toys. This starts between 6 and 18 months of age. Stage 2 is considered rapid deterioration which starts between ages 1 and 4 years old. Children start to lose the ability to perform skills that they were able to do beforehand. They also can present with abnormal hand movement, hyperventilating, screaming/crying for no reason, and coordination issues. Stage 3 is the plateau phase that occurs between ages 2 and 10 years old. In this stage, movement problems may continue, but behavior problems may slightly improve with less irritability and better communication. Seizures may also start at this stage. Stage 4 is late motor deterioration which begins after 10 years of age and lasts for years. The hallmark of this stage is reduced mobility, muscle weakness and contractures. Hand skills and communication remain stable during his stage.

Currently, there is no cure for Rett syndrome. Most treatments that are available right now are focused on improving communication and movement, treating seizures, and providing support for the child and their families. Most individuals with Rett syndrome are still able to survive into their 40’s and 50’s.

References:

Mayo Clinic. (2022, May 3). Rett syndrome. Mayo Clinic. Retrieved December 20, 2022, from https://www.mayoclinic.org/diseases-conditions/rett-syndrome/symptoms-causes/syc-20377227

National Institute of Neurological Disorders and Stroke. (2022, July 25). Rett Syndrome fact sheet. National Institute of Neurological Disorders and Stroke. Retrieved December 20, 2022, from https://www.ninds.nih.gov/rett-syndrome-fact-sheet