What is Rett syndrome?
Rett syndrome is a genetic neurological and developmental disorder that affects the way the brain develops, causing a progressive inability to use muscles for eye and body movements and speech.
Most babies with Rett syndrome seem to develop normally at first, but after about 6 months of age, they lose skills they previously had — such as the ability to crawl, walk, communicate or use their hands.
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 disability.
Rett syndrome is commonly divided into four stages:
- Stage I: early onset. Signs and symptoms are subtle and easily overlooked during the first stage, which starts between 6 and 18 months of age and 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 II: rapid destruction. 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 III: plateau. The third stage usually begins between the ages of 2 and 10 years and can last for many years. Although problems with movement continue, behavior may have limited improvement, with less crying and irritability, and some improvement in hand use and communication. Seizures may begin in this stage and generally don’t occur before the age of 2.
- Stage IV: 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.
How common is Rett syndrome?
Rett syndrome is a rare, severe neurological disorder that affects mostly girls. Please discuss with your doctor for further information.
What are the symptoms of Rett syndrome?
The common symptoms of Rett syndrome are:
- Slowed growth. Brain growth slows after birth. Smaller than normal head size (microcephaly) is usually the first sign that a child has Rett syndrome. As children get older, delayed growth in other parts of the body becomes evident.
- Loss of normal movement and coordination. The first signs often include reduced hand control and a decreasing ability to crawl or walk normally. At first, this loss of abilities occurs rapidly and then it continues more gradually. Eventually muscles become weak or may become rigid or spastic with abnormal 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 speech. Over time, most children gradually regain eye contact and develop nonverbal communication skills.
- Abnormal hand movements. Children with Rett syndrome typically develop repetitive, purposeless hand movements that may differ for each person. Hand movements may include hand wringing, squeezing, clapping, tapping or rubbing.
- Unusual eye movements. Children with Rett syndrome tend to have unusual eye movements, such as intense staring, blinking, crossed eyes or closing one eye at a time.
- Breathing problems. These include breath-holding, abnormally rapid breathing (hyperventilation), forceful exhalation of air or saliva, and swallowing air. These problems tend to occur during waking hours, but not during sleep.
- Agitation and irritability. Children with Rett syndrome become increasingly agitated and irritable as they get older. Periods of crying or screaming may begin suddenly, for no apparent reason, and last for hours.
- Other abnormal behaviors. These may include, for example, sudden, odd facial expressions and long bouts of laughter, hand licking, and grasping of hair or clothing.
- Cognitive disabilities. Loss of skills can be accompanied by a loss of intellectual functioning.
- Most people who have Rett syndrome experience seizures at some time during their lives.
- Abnormal curvature of the spine (scoliosis). Scoliosis is common with Rett syndrome. It typically begins between 8 and 11 years of age and increases with age. Surgery may be required if the curvature is severe.
- Irregular heartbeat. This is a life-threatening problem for many children and adults with Rett syndrome and can result in sudden death.
- Because of health problems, people with Rett syndrome may have an increased risk of pain. But communication problems may prevent others from recognizing these pain issues. In one small study, one-fourth of the parents estimated that their daughters have more than a week of pain each month.
- Other symptoms. A variety of other symptoms can occur, such as thin, fragile bones prone to factures; small hands and feet that are usually cold; problems with chewing and swallowing; and teeth grinding. Symptoms can vary greatly from child to child.
Babies with Rett syndrome are generally born after a normal pregnancy and delivery. The age at which symptoms begin and their severity and associated disability varies widely among individuals. However, most babies with Rett syndrome seem to grow and behave normally 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, suddenly, or over a period of weeks or months.
There may be some symptoms not listed above. If you have any concerns about a symptom, please consult your doctor.
When should I see my doctor?
Signs and symptoms of Rett syndrome can be subtle in the early stages. See your child’s doctor right away if you begin to notice physical problems or changes in behavior after apparently normal development, such as:
- Slowed growth of your child’s head or other parts of the body
- Decreased coordination or mobility
- Repetitive hand movements
- Decreasing eye contact or loss of interest in normal play
- Delayed speech development or loss of previously acquired speech abilities
- Problem behavior or marked mood swings
- Any clear loss of previously gained milestones in gross motor or fine motor skills
What causes Rett syndrome?
Most children with Rett syndrome have a mutation on the X chromosome. Exactly what this gene does, or how its mutation leads to Rett syndrome, isn’t clear. Researchers believe that the single gene may influence many other genes involved in development.
Although Rett syndrome is genetic, children almost never inherit the faulty gene from their parents. Rather, it’s a chance mutation that happens in DNA.
When boys develop the Rett syndrome mutation, they rarely live past birth. Males 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.
What increases my risk for Rett syndrome?
Rett syndrome is rare. The genetic mutations known to cause the disease are random, and no risk factors have been identified. In a few cases, inherited factors — for instance, having close family members with Rett syndrome — may play a role.
Diagnosis & treatment
The information provided is not a substitute for any medical advice. ALWAYS consult with your doctor for more information.
How is Rett syndrome diagnosed?
A diagnosis of Rett syndrome is based on a girl’s pattern of symptoms and behavior. Doctors can make the diagnosis based on these observations alone and by talking to the girl’s parents about things like when the symptoms started.
Because Rett syndrome is rare, doctors will first rule out other conditions, including autism spectrum disorder, cerebral palsy, metabolic disorders, and prenatal brain disorders.
Genetic testing can help confirm the diagnosis in 80% of girls with suspected Rett syndrome. These tests may also predict how severe it will be.
How is Rett syndrome treated?
Although there is no cure for Rett syndrome, there are treatments that can improve symptoms. And children should continue these treatments for their entire life.
The best options available to treat Rett syndrome include:
- Standard medical care and medication
- Physical therapy
- Speech therapy
- Occupational therapy
- Good nutrition
- Behavioral therapy
- Supportive services
Experts believe that therapy can help girls with Rett syndrome and their parents. Some girls may be able to go to school and learn better social interaction.
Medicines can treat some of the problems with movement in Rett syndrome. Medication can also help control seizures.
Many girls with Rett syndrome can live at least into middle age. Researchers are studying women with the disease, which was only widely recognized in the last 20 years.
Lifestyle changes & home remedies
What are some lifestyle changes or home remedies that can help me manage Rett syndrome?
The following lifestyles and home remedies might help you cope with Rett syndrome:
- Find ways to relieve stress. It’s natural to feel overwhelmed at times. Talk about your problems with a trusted friend or family member to help relieve your stress. Take some time for yourself doing something you like to recharge your battery.
- Arrange for outside help. If you care for your child at home, seek the help of outside caregivers who can give you a break from time to time. Or you may consider residential care at some point, especially when your child becomes an adult.
- Connect with others. Getting to know other families facing problems similar to yours can help you feel less alone. Look for online support and information from organizations such as the International Rett Syndrome Foundation.
If you have any questions, please consult with your doctor to better understand the best solution for you.
Hello Health Group does not provide medical advice, diagnosis or treatment.
Rett syndrome. https://www.mayoclinic.org/diseases-conditions/rett-syndrome/symptoms-causes/syc-20377227. Accessed December 11, 2017.
Rett Syndrome: What to Know. https://www.webmd.com/brain/autism/rett-syndrome. Accessed December 11, 2017.
Review Date: December 7, 2017 | Last Modified: December 11, 2017