A diagnosis of Rett syndrome comes with a lot of questions and uncertainty about your child’s health, like:
- What is it?
- What should I do when my child is diagnosed?
- What are the treatment options?
- Will my child regain any ground she’s lost, mentally and physically?
- What’s the long-term outlook for my child?
At Children’s Hospital Boston, we know how important it is for parents and families to understand their child’s medical concerns. We’ve provided straightforward information about Rett syndrome here, and when you meet with our team of doctors, they’ll be able to explain your child’s condition and options fully.
What is Rett syndrome?
- Rett syndrome is a childhood neurodevelopmental disorder in which a genetic mutation causes a the inability or impaired ability of the body to perform purposeful hand movements and expressive language.
- Rett syndrome is characterized by normal development during the first few months of life, followed by a loss (regression) of language and motor skills. Some children with Rett syndrome might have delays in acquiring skills early on (soon after birth).
- Children with Rett syndrome may also exhibit autistic behaviors such as impaired social interaction, impaired communication and unusual, restricted or repetitive behaviors (also called “stereotyped” behaviors or stereotypies).
- Most cases of Rett syndrome are caused by a mutation in the MECP2 gene, which is located on the X chromosome. The MECP2 gene makes MeCP2, a protein that’s essential for brain development and the normal functioning of nerve cells.
- As a result of the mutation, the brain does not receive the critical protein during the period of infancy (six to 18 months). This causes developmental delays to occur.
What are the different types of Rett syndrome?
Rett syndrome can be diagnosed in three different forms. A diagnosis is based on a child’s symptoms and how they correspond with clinical criteria. Visit the tests tab to read more about the critertia physicians use to diagnose Rett syndrome.
- Classical Rett syndrome: Classical Rett syndrome is diagnosed in children who meet all the diagnostic criteria for Rett syndrome.
- Provisional Rett syndrome: Provisional Rett syndrome is diagnosed in girls who are 1 to 3 years old and have a few clinical symptoms of Rett syndrome but not enough to meet all the diagnostic criteria required for a diagnosis of classical Rett syndrome.
- Atypical Rett syndrome: Atypical Rett syndrome is diagnosed when:
- Symptoms begin early (soon after birth) or late (beyond 18 months of age, sometimes as late as 3 or 4 years old)
- Speech and hand skill problems are mild
- It is appears in a boy (very rare)
Are there any medical conditions associated with Rett syndrome I should be aware of?
It’s important to note that Rett syndrome sometimes resembles (and may be diagnosed initially as):
How does Rett syndrome relate to autism?
Autism spectrum disorder (ASD), which doctors also refer to as pervasive developmental disorder (PDD), is defined by behaviors that may include:
- difficulty with social interactions
- difficulty with language and other forms of communication
- unusual, restricted or repetitive interests or behaviors
Rett syndrome can be thought of as a distinct disorder that has many autism-like symptoms. Children with autism and children with Rett syndrome both exhibit impaired social interaction, impaired communication and unusual behavior or movements. The similarity in symptoms is the reason why Rett syndrome is often misdiagnosed as autism.
The terms for ASDs can often be confusing. One reason for that is that the ways ASDs are defined are always changing. The Diagnostic and Statistical Manual (DSM) of the American Psychiatric Association, which provides the standard classification of these disorders, is in revision, with the new edition due to be published in 2012.
Will my child recover?
Rett syndrome is a progressive disease, which means that her symptoms will likely get worse over time. The speed at which a Rett syndrome progresses in a given child and the severity of symptoms she experiences varies from child to child. Typically, symptoms start to become noticeable when a child is between the ages of 1 and 4. During this time, she may exhibit repetitive hand movements, a gradual loss of speech and decreased communication and social interaction.
While problems with physical movement may continue to deteriorate, your daughter may experience improvement in her behavioral symptoms when she’s between the ages of 2 and 10. During this time, a girl may express an increased interest in her surroundings as well as show improvement in alertness, attention span and communication skills. Many girls with Rett syndrome remain in this “plateau stage” for the rest of their lives. Communication and motor skills usually don’t decline past this point.
The various forms of rehabilitation available may help your daughter improve or maintain motor and cognitive functioning.
What causes Rett syndrome?
- Every child with Rett syndrome is born with the mutation that causes the disease. However, Rett syndrome most often occurs as a result of a sporadic gene mutation, meaning that it’s very rarely inherited from the parents.
- Most children with Rett syndrome have a mutation in the MECP2 gene, although other gene changes (such as deletions or duplications) or mutations in other genes (such as CDKL5 or STK9) can cause Rett syndrome.
- The MECP2 gene makes MeCP2, a protein that’s essential for brain development and the normal functioning of nerve cells. MeCP2 regulates other genes in the brain by increasing the activity of other genes and telling them when to turn off and stop producing their own unique proteins.
- Researchers know that a mutation in the MECP2 gene prevents the MeCP2 protein from doing its job, and disrupts the normal functioing of nerve cells. However, it’s unclear how these mutations lead to the symptoms associated with Rett syndrome.
Signs and symptoms
What are the symptoms of Rett syndrome?
Children with Rett syndrome display a wide variety of symptoms, and children with the disorder have differing levels of physical and mental impairment. Symptoms are divided into the following categories:
- Children with Rett syndrome have significantly impaired communication and cognitive abilities.
- Many children permanently lose the ability to speak at around 12 to 18 months.
- Alteration in communication and language similar to those seen in autism and other developmental disorders are common.
After losing purposeful use of the hands, compulsive hand movements may begin. These are unique to each child and may change over time.
- hand wringing
- hand washing
- hand clasping
- hand clapping or tapping
- repeatedly moving the hands towards the mouth
- Apraxia means the inability or impaired ability to perform task or movements.
- A girl may lose the ability to perform motor skills she had previously learned to do, such as walking or crawling.
- It interferes with every body movement, including eye gaze and speech.
- This is one of the most disabling features of Rett syndrome.
- apnea (breath-holding)
- hyperventilation (over breathing)
- air swallowing
Other neurological symptoms
- sleep disruption
- excess salivation
- cognitive disabilities
Symptoms affecting other parts of the body
- gastrointestinal problems, such as reflux and constipation
- heart rhythm abnormalities
- orthopedic problems such as scoliosis
- microcephaly (small head size)
- low muscle tone
- dystonia (abnormal muscle tone and position)
- toe walking
- teeth grinding
- difficulty chewing
Q: What is Rett syndrome?
A: Rett syndrome is a genetic neurodevelopmental disorder that occurs almost exclusively in girls. Rett syndrome is characterized by a period of normal development when a child is between 6 and 18 months old, followed by the regression of language and motor skills.
Q: What caused my child to get Rett syndrome?
A: Every child with Rett syndrome is born with the mutation that causes the disease. However, Rett syndrome most often occurs as a result of a sporadic gene mutation, meaning that it is very rarely inherited from the parents. In most cases, Rett syndrome is caused by a mutation on X-linked recessive gene called MECP2. X-linked means that the gene that causes the trait or disorder is found on the X-chromosome. It’s not clear exactly how this gene mutation leads to Rett syndrome. However, since the MECP2 gene creates a protein essential in brain development, it’s believed that the gene’s defect disrupts the normal functioning of nerve cells.
Q: Why does Rett syndrome usually affect just girls?
A: Rett syndrome is almost exclusive to girls because males born with the condition usually die shortly after childbirth. This is due to the fact that the mutation that causes Rett syndrome is found on the X-chromosome. Females have two X chromosomes (XX), while males have one X and one Y chromosome (XY). If a female is born with the defective gene involved in Rett syndrome, she has an additional X chromosome to make up for the problem. However, this is not possible for males. If the X chromosome in a male is affected by the mutation, he will suffer the effects of the disease much more severely.
Q: My child seemed fine. Why does Rett syndrome seem to suddenly appear out of nowhere?
A: The progression of Rett syndrome starts with the mutation in the MECP2 gene. The MECP2 gene makes MeCP2, a protein that’s essential for brain development and the normal functioning of nerve cells. MeCP2 regulates other genes in the brain by increasing the activity of other genes and tell them when to turn off and stop producing their own unique proteins. During the first six to 18 months of your baby’s life, the MeCP2 protein is not yet needed to carry out these functions. This is why your baby’s development may have seemed normal in early infancy.
The problems associated with Rett syndrome begin when your baby reaches an age (usually around 1 to 4 years), when important milestones are expected to be achieved. This is when the MeCP2 protein, which is supposed to be playing a critical role in helping a baby reach these milestones, fails to carry out its duties. This means that a child’s brain isn’t getting a protein that’s essential for normal brain development. As a result, the loss of skills begins to occur.
Q: Who’s at risk for Rett syndrome?
A: No risk factors for Rett syndrome have been identified, other than being female. The gene mutation involved in Rett syndrome occurs at random in the girl’s own DNA.
Q: How common is Rett syndrome?
A: Rett syndrome affects about one out of 10,000 to 15,000 girls. Rett syndrome in boys is extremely rare. Most males who are born with the condition die shortly after birth because they do not have the additional X chromosome required to offset the genetic mutation.
Q: If I have one child with Rett syndrome, do my chances of having another child with the condition increase?
A: The chances of having another child with Rett syndrome are very small—less than 1 percent. Although Rett syndrome is a genetic disorder, the mutated gene is rarely inherited from the parents. It’s a common misconception that “genetic” always means “inherited.” In fact, “genetic” only means “caused by a gene,” which can (and often does) mean that a mutated gene is inherited, but it can also mean that the gene mutated spontaneously by itself.
Q: Can Rett syndrome be prevented?
A: No, there is no known method for prevention of Rett syndrome.
Q: Is there a cure?
A: There’s no current cure for Rett syndrome. However, research is underway on new drugs that may improve management of symptoms.
Q: How will Rett syndrome affect my child?
A: Apraxia, or the impaired ability to move and use the body purposefully, is the primary effect Rett syndrome has on a child. Motor functions can be described as anything that requires a person to coordinate a series of learned movements in order to perform purposeful tasks, such as walking or picking up items. Apraxia can also affect eye and hand movements, leading to poor eye contact and loss of the purposeful use of hands. Verbal apraxia causes a girl with Rett syndrome to have difficulty coordinating mouth movements and speech. Many girls lose their ability to talk by age 3. Breathing, cardiac function and even chewing, swallowing and digestion can also be affected.
When a girl is between 2 to 3 years old, she may start exhibiting characteristics associated with autism, such as exhibit impaired social interaction, impaired communication and a limited range of interests.
Since Rett syndrome follows a progressive course, girls don’t regain these skills once she loses them. However, the speed at which Rett syndrome progresses in a given child and the severity of symptoms she experiences varies. Depending on the severity of her impairment, a girl may experience improvement in her symptoms when she’s between the ages of 2 and 10. During this time, a girl may express an increased interest in surroundings as well as improvement in alertness, attention span and communication skills. Many girls will remain in this plateau stage for the rest of their lives and experience no further decline in communication or motor skills.
Q: Can my child go to school, despite having Rett syndrome?
A: Your child will probably need special accommodations in school. At Children’s, we place great importance on helping a child with Rett syndrome get the kind of education that will help her learn and communicate. Our educational resource coordinator will help your family find and access appropriate educational resources for your child.
A wonderful resource at Children’s is the Augmentative Communication Program. Here, speech-language pathologists work with many of our patients to find creative, effective strategies for communication.
Q: What’s the long-term out-look for my child?
A:. Rett syndrome is a disease that will progress slowly throughout your child’s life. However, the speed at which Rett syndrome progresses in a given child and the severity of symptoms she experiences varies. Symptoms will start to become noticeable when your child is between the ages of 1 and 4 and may include repetitive hand movements, loss of spoken language and decreased communication and social interaction.
Depending on the severity of their impairment, some girls may experience improvement in their behavior when they’re between the ages of 2 and 10. During this time, a girl may express an increased interest in surroundings as well as improvement in alertness, attention span and communication skills. Many girls will remain in this plateau stage for the rest of their lives and experience no further decline in communication or motor skills.
Although Rett syndrome is believed to cause impaired mental functioning, a girl's intelligence level cannot be fairly measured due to her decreased ability to use spoken language.
Most treatment methods focus on addressing the specific symptoms your child may experience throughout her life. These treatment methods can help manage your daughter’s symptoms, but the course of Rett syndrome will still cause certain skills and abilities to deteriorate.
While it is known that Rett syndrome shortens lifespan, not much is known about specific life expectancy rates for people with Rett syndrome. It generally depends on the age when symptoms first begin and their severity. On average, most girls with the condition survive into their 40s or 50s.
Q: How can I help my child?
A: Children with Rett syndrome have many different health issues that require various treatments. A large part of caring for a child with this condition involves home care:
- Your child will likely need help with day-to-day activities like eating, walking and using the bathroom.
- You may notice that your child is having difficulties sleeping. In most cases, behavioral strategies—like following a consistent nighttime routine and creating a quiet mood at bedtime—are effective in solving sleep-related problems. Visit Children’s Healthy sleep page to learn more about approaches that may work for your family.
- Many girls have “failure to thrive,” which means that they having trouble gaining enough weight. To avoid malnutrition, it’s important to monitor your child’s food and caloric intake to make sure she is getting adequate nutrients. Remember to talk to your child’s doctor about any medications or special diets that you’re considering, even if they’re termed “natural” or “herbal.” Some medications, herbal therapies, vitamin supplements or special diets may be unsafe for your child, and some can be harmful if they’re not used properly.
It’s important that your child sees specialist outside of home too. Your child’s medical treatment program may involve:
- Speech-language therapy can help your child understand language and use it to express herself.
- Total communication interventions are types of speech therapy that can help your child use any possible means of communication—including vocalizations, pictures, gestures and sign language.
- Occupational and physical therapy may develop your child’s skills in using her hands and other parts of his body and help your child deal with sensory inputs from her environment.
It’s generally best if you’re working toward the same goals and using the same methods at home that your child’s therapists are using during the day. That doesn’t mean, however, that your child needs to be engaged in therapy-related activities all the time. You have lots of other responsibilities on your plate, and you and your child both need breaks.
If you are having trouble coping with your child’s Rett syndrome, we offer many support services that can help you to develop parenting strategies and feel less anxious.
Questions to ask your doctor
You will probably have a lot of questions on your mind before meeting with your child’s doctor. At the appointment, it can be easy to be overwhelmed with information and forget the questions you wanted to ask.
A lot of parents find it helpful to jot down questions beforehand. That way, when you talk to your child’s clinician, you can be sure that all your concerns are addressed. Remember that physicians are open to learning from families too. Attend conferences, read up on updated materials and don’t be afraid to share what you have learned.
Some questions you might ask include:
- What kind of experience do you have in treating children with Rett syndrome?
- How should I talk to my child about her condition and the long-term outlook?
- How should I explain my child’s condition to others?
- Does my child need to take medications?
- Do I need to make any other changes to my child’s home and school routines?
- What other resources can you point me to for more information?
- If I have other children, will they be at risk?
| Stages of grief..and arriving at acceptance
| A mom shares how her feelings about her son’s diagnosis of a Pervasive Developmental Disorder, Not Otherwise Specified (PDD-NOS), have slowly transformed. Read her story, “In her own words: Accepting autism” from the winter 2009 issue of Dream, a Children’s magazine for patients and families.