Understanding Rett Syndrome: A Journey to Hope and Cure

October 2023

What is Rett Syndrome?

Over time, children with Rett syndrome have increasing problems with the use of muscles that control movement, coordination and communication. Rett syndrome can also cause seizures and intellectual disabilities. Unusual hand movements, such as repetitive rubbing or clapping, replace purposeful hand use.

What are symptoms of Rett Syndrome?

Babies with Rett syndrome usually are born after an uncomplicated pregnancy and delivery. Most infants with Rett syndrome seem to grow and behave as expected for the first six months. After that, signs and symptoms start to appear.

The most pronounced changes generally occur at 12 to 18 months of age, over a period of weeks or months. Symptoms and their severity vary greatly from child to child.

The main signs and symptoms include:

• Slowed growth - Brain growth slows after birth. Smaller than usual head size (microcephaly) is sometimes the first sign that a child has Rett syndrome. As children get older, there is delayed growth in other parts of the body.

• Loss of movement and coordination abilities - The first signs often include reduced hand control and a decreasing ability to crawl or walk. At first, this loss of abilities occurs rapidly, and then it continues more gradually. Eventually muscles become weak or stiff, with unusual movement and positioning.

• Loss of communication abilities - Children with Rett syndrome typically begin to lose the ability to speak, to make eye contact and to communicate in other ways. They may become disinterested in other people, toys and their surroundings. Some children have rapid changes, such as a sudden loss of language. Over time, children may gradually regain eye contact and develop nonverbal communication skills.

• Unusual hand movements - Children with Rett syndrome usually develop repetitive, purposeless hand movements, which differ from child to child. Hand movements may include hand-wringing, squeezing, clapping, tapping or rubbing

Other symptoms include, unusual eye movements, breathing problems, irritability and crying, intellectual disabilities, seizures, scoliosis, irregular heartbeat, sleep disturbances, etc.

What are stages of Rett Syndrome?

Rett syndrome is commonly divided into four stages:

Stage 1: Early onset - Signs and symptoms are subtle and easily overlooked during the first stage, which starts between 6 and 18 months of age. Stage 1 can last for a few months or a year. Babies in this stage may show less eye contact and start to lose interest in toys. They may also have delays in sitting or crawling.

Stage 2: Rapid deterioration - Starting between 1 and 4 years of age, children lose the ability to perform skills they previously had. This loss can be rapid or more gradual, occurring over weeks or months. Symptoms of Rett syndrome occur, such as slowed head growth, abnormal hand movements, hyperventilating, screaming or crying for no apparent reason, problems with movement and coordination, and a loss of social interaction and communication.

Stage 3: Plateau - The third stage usually begins between the ages of 2 and 10 years, and it can last for many years. Although problems with movement continue, behavior may slightly improve, with less crying and irritability, and there may be some improvement in hand use and communication. Seizures may begin in this stage and generally don't occur before the age of 2.

Stage 4: Late motor deterioration - This stage usually begins after the age of 10 and can last for years or decades. It's marked by reduced mobility, muscle weakness, joint contractures and scoliosis. Understanding, communication and hand skills generally remain stable or improve slightly, and seizures may occur less often.

What causes Rett Syndrome?

Rett syndrome, as well as several variants (atypical Rett syndrome) with milder or more-severe symptoms, occur based on several specific genetic changes (mutations). The genetic changes that cause Rett syndrome occur randomly, usually in the MECP2 gene. Very few cases of this genetic disorder are inherited. The genetic changes appear to result in problems with the protein production critical for brain development. However, the exact cause is not fully understood and is still being studied.

Because males have a different chromosome combination from females, males who have the genetic changes that cause Rett syndrome are affected in devastating ways. Most of them die before birth or in early infancy. A very small number of males have a different genetic change that results in a less destructive form of Rett syndrome. Similar to females with Rett syndrome, these males are likely to live to adulthood, but they're still at risk of a number of intellectual and developmental problems.

Our occupational therapist may improve purposeful use of the hands for activities such as dressing and feeding. If repetitive arm and hand movements are a problem, splints that restrict elbow or wrist motion may be helpful.