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A diagnosis of Rett syndrome comes with a lot of questions and uncertainty about your child’s health, like:
At Boston Children’s Hospital, 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?
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 criteria physicians use to diagnose Rett syndrome.
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:
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.
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 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?
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:
After losing purposeful use of the hands, compulsive hand movements may begin. These are unique to each child and may change over time.
Other neurological symptoms
Symptoms affecting other parts of the body
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 Boston 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 Boston 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:
It’s important that your child sees specialists outside of home as well. Your child’s medical treatment program may involve:
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.
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:
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