Fact: There is no cure for Rett syndrome
What is Rett Syndrome?
Rett syndrome is a rare non-inherited genetic postnatal neurological disorder that occurs almost exclusively in girls and leads to severe impairments, affecting nearly every aspect of the child’s life: their ability to speak, walk, eat, and even breathe easily. The hallmark of Rett syndrome is near constant repetitive hand movements while awake. Cognitive assessment in children with Rett syndrome is complicated, but we know that they understand far more than they can communicate to us, evidenced by their bright and attentive eyes, and their ability to express a wide spectrum of moods and emotions.
Rett syndrome signs and symptoms include:
- 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.
- Seizures. 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.
- Pain. 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
Stages of Rett Syndrome
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.
Rett syndrome causes problems in brain function that are responsible for cognitive, sensory, emotional, motor and autonomic function. These can include learning, speech, sensory sensations, mood, movement, breathing, cardiac function, and even chewing, swallowing, and digestion.
Rett syndrome in boys
Because males have a different chromosome combination from females, boys who have the genetic mutation that causes Rett syndrome are affected in devastating ways. Most of them die before birth or in early infancy.
A very small number of boys have a different mutation that results in a less destructive form of Rett syndrome. Similar to girls with Rett syndrome, these boys will likely live to adulthood, but they're still at risk of a number of intellectual and developmental problems.
Rett syndrome is confirmed with a simple blood test to identify the MECP2 mutation. However, since the MECP2 mutation is also seen in other disorders, the presence of the MECP2 mutation in itself is not enough for the diagnosis of Rett syndrome. Diagnosis requires either the presence of the mutation (a molecular diagnosis) or fulfillment of the diagnostic criteria (a clinical diagnosis, based on signs and symptoms that you can observe) or both.
Evaluating other causes for the symptoms
Because Rett syndrome is rare, your child may have certain tests to identify if other conditions are causing some of the same symptoms as Rett syndrome. Some of these conditions include:
- Other genetic disorders
- Cerebral palsy
- Hearing or vision problems
- Metabolic disorders, such as phenylketonuria (PKU)
- Disorders that cause the brain or body to break down (degenerative disorders)
- Brain disorders caused by trauma or infection
- Brain damage before birth (prenatal)
What tests your child needs depends on specific signs and symptoms. Tests may include:
- Blood tests
- Urine tests
- Imaging tests such as magnetic resonance imaging (MRI) or computerized tomography (CT) scans
- Hearing tests
- Eye and vision exams
- Brain activity tests (electroencephalograms, also called EEGs)
Treatments and drugs
Although there is no cure for Rett syndrome, treatments are directed toward symptoms and providing support. The need for treatment and support doesn't end as children become older — it's usually necessary throughout life. Treating Rett syndrome requires a team approach.
Treatments that can help children and adults with Rett syndrome include:
- Regular medical care Management of symptoms and health problems may require a multispecialty team. Regular monitoring of physical changes such as scoliosis and GI and heart problems is needed.
- Medications Though medications can't cure Rett syndrome, they may help control some signs and symptoms associated with the disorder, such as seizures, muscle stiffness, or problems with breathing, sleep, the GI tract or the heart.
- Physical therapy Physical therapy and the use of braces or casts can help children who have scoliosis or require hand or joint support. In some cases, physical therapy can also help maintain movement, create a proper sitting position, and improve walking skills, balance and flexibility. Assistive devices may be helpful.
- Occupational therapy Occupational therapy 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.
- Speech-language therapy Speech-language therapy can help improve a child's life by teaching nonverbal ways of communicating and helping with social interaction.
- Nutritional support Proper nutrition is extremely important for normal growth and for improved mental and social abilities. A high-calorie, well-balanced diet may be recommended. Feeding strategies to prevent choking or vomiting are important. Some children and adults may need to be fed through a tube placed directly into the stomach (gastrostomy).
- Behavioral intervention Practicing and developing good sleep habits may be helpful for sleep disturbances.
- Support services Academic, social and job training services may help with integration into school, work and social activities. Special adaptations may make participation possible.
A few examples of complementary therapies that have been tried in children with Rett syndrome include:
- Music therapy
- Hydrotherapy, which involves swimming or moving in water
- Animal-assisted therapy, such as using therapy dogs or therapeutic horseback riding
Although there's not much evidence that these approaches are effective, some parents who have used them report good results.
If you think alternative or complementary therapies might help your child, talk to your doctor or therapist about the possible benefits and risks, and how the approach might fit into the medical treatment plan.
Want to learn more?
The following are organizations and/or websites dedicated to providing information and education surrounding Rett Syndrome. These organizations are dedicated to research, education, awareness, and/or support. They are listed in Alphabetical order without any preference or prejudice. Listing these organizations is not a recommendation or referral in any regard for seeking treatment or consultation or support for treatment.
National Organization for Rare Diseases