Rett syndrome is a severe genetic disorder that affects the way the brain develops, causing progressive disability of the muscles. It almost exclusively affects females and occurs in an estimated 1 in 12,000 girls born each year.
Due to its rarity, the condition may be challenging to identify early on in a child’s life, as they tend to grow and develop normally for the first 6 to 18-months. Read on to find out more about Rhett syndrome, including symptoms to be mindful of, how it’s diagnosed, and potential treatment options.
Although Rett syndrome is something a child is born with, most babies tend to grow and behave normally for the first 6-months of life. After that, signs and symptoms may begin to appear, either suddenly or slowly.
Slowed development is generally the first stage of the condition, and, according to the NHS, can include low muscle tone, difficulty feeding, abnormal hand movements, delayed speech development, mobility problems, and a lack of interest in toys. These symptoms occur as a result of the brain not growing properly, which is often visible in that the head is smaller than normal (known as microcephaly).
After the initial stage, referred to as stagnation, the child will often experience loss of muscle movement and coordination. This is known as regression and often affects previously acquired skills, such as the ability to crawl or walk, communicate, and eat.
Problems with hand movements may also become more evident, as the child begins to lose the ability to use them. Such movements may look like wringing, rubbing, clapping or tapping. WebMD adds that a child with Rett syndrome may also “have uncoordinated breathing and seizures, including very fast breathing (hyperventilation), forceful exhaling of air or saliva, and swallowing air.”
In the vast majority of cases, Rett syndrome is caused by a mutation on the X chromosome. Although the condition is genetic, the National Organization for Rare Disorders says that 99-percent of these mutations “occur sporadically and are not possessed or transmitted by a child’s parents.”
Although it is possible for males to develop Rett syndrome, WebMD says they “rarely live past birth.” This is because “[m]ales have only one X chromosome (instead of the two girls have), so the effects of the disease are much more serious, and almost always fatal.”
Unless a child is born with a smaller than normal head (microcephaly), which may immediately indicate Rett syndrome as a possible cause, the condition is generally diagnosed later in childhood through careful observation of growth and development.
As the symptoms of Rett syndrome can be quite similar to other conditions, a variety of tests may be conducted to rule out autism spectrum disorder, cerebral palsy, metabolic disorders, and prenatal brain disorders. WebMD adds that “genetic testing can help confirm the diagnosis in 80% of girls with suspected Rett syndrome” and that “these tests may also predict how severe it will be.”
While there is no cure for Rett syndrome, there are a variety of treatments that can help to improve symptoms and provide the individual with support throughout their life. Physical therapy, for instance, can aid in maintaining mobility. While speech therapy can “help improve a child’s life by teaching nonverbal ways of communicating and helping with social interaction,” says the Mayo Clinic.
Occupational therapy can assist the child in developing the skills needed to dress and feed themselves, and behavioral therapy can help them to develop good sleeping habits. The source adds that medications may also be used to help treat some symptoms of Rett syndrome, such as “seizures, muscle stiffness, or problems with breathing, sleep, the GI tract or the heart.”