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Rett Syndrome

  • Overview

     

    NEW RETT SYNDROME PROGRAM DIRECTOR

    Boston Children's Hospital's Rett Syndrome Program, the only program of its kind in New England, welcomes Walter Kaufmann, MD, as its new director. In addition to seeing patients, Dr. Kaufmann specializes in understanding why children with Rett Syndrome develop cognitive and behavioral problems. As founder and chair of the international RettSearch consortium, he has conducted extensive laboratory and clinical research, and will head a new phase 2 IGF-1 drug trial.


     Rett syndrome is a genetic disorder of the nervous system that causes a regression (loss) of language and motor skills. The syndrome is considered one of the autism spectrum disorders (ASDs), although it has many other specific features that set it apart.

    Here are some of the basics of Rett syndrome:

    • Rett syndrome is a neurodevelopmental disorder that’s characterized by a child's impaired ability to physically perform purposeful movements. Children with Rett syndrome also exhibit autistic behaviors such as impaired social interaction and communication.
    • Children with Rett syndrome often have normal development during the first six to 18 months of life, followed by later loss (regression) of language and motor skills.
    • Rett syndrome is most often misdiagnosed as autism, cerebral palsy or a non-specific developmental delay since the conditions share similar physical and mental symptoms. 
    • Rett syndrome occurs in about one out of 10,000 to 15,000 children and affects girls almost exclusively.
    • Rett syndrome is caused by a mutation that occurs on the X chromosome. Males born with the defective gene usually don’t survive childbirth because they don’t have the additional X chromosome needed to make up for the problem.
    • Although there’s currently no cure for Rett syndrome, in many cases the physical symptoms can be alleviated and managed by occupational therapy and physical therapy.
    • Life expectancy depends on when symptoms first begin and their severity. On average, most people with the condition survive into their 40s or 50s. 

    How Boston Children's Hospital approaches Rett syndrome

    In our Rett Syndrome Program at Children’s, we’re dedicated to helping children and adults, who have Rett syndrome and related conditions, develop to their full potential. We are optimistic about recent scientific developments regarding Rett syndrome, and our doctors are collaborating with researchers to translate their discoveries into meaningful treatments for children.

    We bring together a team of physicians and therapists from various fields who have expertise and experience in caring for children with Rett syndrome. Our aim is to work with your child and family to choose the best combination of therapies and medication to manage your child’s symptoms and to help her learn and maximize her potential.

    Rett syndrome: Reviewed by Omar Khwaja, MD, neurologist
    © Children’s Hospital Boston; posted in 2011

  • In-Depth

    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.

    Causes

    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:

    Language

    • 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.

    Hand movements

    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

    • 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.

    Breathing irregularities

    • apnea (breath-holding)
    • hyperventilation (over breathing)
    • air swallowing

    Other neurological symptoms

    • seizures
    • sleep disruption
    • tremors
    • 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

    FAQ

    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.
  • Tests

    At Children’s Hospital Boston, we know that the first step in treating your child’s Rett syndrome is to form an accurate and complete diagnosis. Our specialists are leaders in evaluating and diagnosing children with Rett syndrome and related conditions.

    How is Rett syndrome diagnosed?

    A genetic test that detects the MECP2 mutation on the child’s X chromosome was recently developed to confirm the clinical diagnosis of the disorder. Although the genetic test can be positive up to 80 percent the time, some children who have the MECP2 genetic mutation do not actually have the disorder. For this reason, a diagnosis of Rett syndrome is also made through observing signs and symptoms during a girl’s early development.

    Criteria for diagnosing Rett syndrome

    The MECP2 gene mutation involved in Rett syndrome is also seen with other disorders and can often be misdiagnosed and mistaken for cerebral palsy, autism or non-specific developmental delay. To avoid misdiagnosis, a pediatric neurologist or developmental pediatrician will use a set of highly specific clinical criteria to diagnose Rett syndrome.

    The guidelines are divided into three types of clinical criteria: essential, supportive and exclusion.

    Essential criteria

    Essential criteria refers to symptoms that must be present for a diagnosis of Rett syndrome to be made. Some of the essential criteria for diagnosing Rett syndrome include:

    • a period of normal development until between six to 18 months
    • repetitive hand movements including hand washing, hand wringing and hand clasping
    • a normal head circumference at birth followed by a slowing of the rate of head growth with age (starting between the time a child is 6 months and 4 years old)
    • significantly impaired expressive and receptive language
    • shakiness of the torso, which also may involve the limbs, particularly when the child is upset or agitated
    • unsteady, wide-based, stiff-legged gait and sometimes toe walking

    Supportive criteria

    Supportive criteria describes symptoms that are not necessary for a diagnosis of Rett syndrome but may be seen in some people with the disorder. A girl who meets supportive criteria but no essential criteria does not have Rett syndrome.  Supportive criteria include the following:

    • seizures
    • breathing irregularities such as apnea, hyperventilation and air swallowing
    • abnormal sleep patterns and irritability
    • muscle rigidity or spasticity
    • irritability or agitation
    • electroencephalogram (EEG) abnormalities
    • spasticity
    • scoliosis (curvature of the spine)
    • chewing and/or swallowing difficulties
    • teeth-grinding
    • decreased body fat and muscle mass
    • poor circulation of the lower extremities with cold and bluish-red feet and legs
    • decreased mobility with age

    Exclusion criteria

    Exclusion criteria are various conditions that allow doctors to rule out a diagnosis of Rett syndrome. If a girl has any of the following criteria, she does not have Rett syndrome:

    • neurometabolic disease or other inherited degenerative disorder
    • a neurological disorder resulting from severe infection or head trauma
    • evidence of brain damage acquired after birth
    • vision loss due to retinal disorder or optic atrophy (the loss of some of the fiber of the optic nerve)
    • grossly abnormal psychomotor development in the first six months of life

    How does Children’s approach diagnosing Rett syndrome?

    At Children’s, we have extensive diagnostic testing capabilities. These tests can help us distinguish Rett syndrome from other neurological and developmental disorders that may have similar symptoms. The diagnostic tests your child might receive include:

    • genetic testing in the Children’s DNA diagnostic laboratory
    • neurophysiological testing
    • brain imaging

    Whats the long-term out-look for my child?

    Rett syndrome is a disease that will progress slowly throughout your child’s life. However, the speed at which a Rett syndrome progresses in a given child and the severity of symptoms 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.

    Developmental delays also vary from child to child.  Some girls will be able to crawl and sit up independently while other girls won’t. Similarly, some girls may walk independently at some point during their lives while other girls will never gain that ability. Girls who are able to walk might keep that skill for the rest of their lives, while other girls may gradually lose that ability.  Since Rett syndrome follows a progressive course, a girl doesn’t regain these skills once she loses them.

    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. Increased difficulties in performing tasks may develop after the age of 10, and girls who were once able to walk may lose the ability. Muscle weakness and muscle contractions may increase and spinal curvature may become more severe in girls who have scoliosis.

    While it is known that Rett syndrome shortens lifespan, not much is known about specific life expectancy rates for girls 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.

    Can Rett syndrome be reversed?
    Our clinical trial on IGF-1 as a treatment for Rett syndrome was covered in a December 21, 2010 post on Vector, Children’s research and innovation blog, and in an article, "Can drugs improve cognitive deficits in developmental disorders?"
  • We understand that a diagnosis of Rett syndrome can be extremely worrisome. You are probably wondering where to go from here and how to make sure your child receives the best possible care.

    At Boston Children's Hospital, we take a family-centered approach to treatment. From your first visit, you'll work with a team of professionals who are committed to supporting all of your family's physical and psychosocial needs, including putting you in touch with other families with a child who has Rett syndrome, and connecting you to community and educational services. With the appropriate therapy, children with Rett syndrome can develop, learn, communicate and reach their fullest potential.

    How do you care for children with autism spectrum disorders?

    Autism spectrum disorders (ASDs) are complex conditions, and our understanding of them is evolving rapidly as researchers get more and more answers.Children's brings together an array of specialists—including developmental behavioral pediatricians, child neurologists, psychologists and speech-language pathologists—to provide the multi-faceted assessments and care that children with autism spectrum disorders need. Along with experienced resource specialists, we are dedicated to providing the best possible care for your child and helping your family access the right educational approaches and therapies for his unique situation.

    Is there a cure for Rett syndrome?

    There's currently no cure for Rett syndrome and the symptoms of Rett syndrome can't be reversed. Since Rett syndrome follows a progressive course, it causes certain skills and abilities to deteriorate over time. Treatment for the disorder focuses on managing your child's symptoms, which can affect many different aspects of her health and development.

    What treatment options are available?

    In many cases, a child's physical symptoms of Rett syndrome can be alleviated and managed with physical therapy and speech therapy. Various forms of behavioral and rehabilitative therapy are also extremely effective in helping children learn and develop.

    Do you prescribe medication help manage her symptoms?

    Yes, medications may be used to treat a child's seizures, muscle stiffness and anxiety.  

    How is your approach unique?

    Generally, doctors' and researchers' approach to treating children with Rett syndrome is undergoing major shifts. Improved medical care is alleviating many of the physical complications, allowing patients to live longer and maintain a higher quality of life. We are learning that with appropriate therapy, children with Rett syndrome can develop, learn and communicate. Recent discoveries are offering hope that medical treatments might one day reverse the symptoms of Rett syndrome.

    We work closely with occupational and physical therapists, social workers and a nursing team to create the best possible treatment plan for your child. Our goal is to achieve the optimum health and wellbeing in our patients so that they can reach their maximum potential.

    An important part of our Rett Syndrome Program is helping children and families access resources that will help them learn and thrive. We offer specialized neuropsychological testing to identify your child's individual learning skills, which is helpful in finding the right educational setting for her.

    Coping and support

    Children's resources for families:

    • A diagnosis of Rett syndrome can feel devastating. Every day, we work with children and families who give us great hope. You may find it helpful to talk not only with us, but also with the families of other children in our Rett Syndrome Program. In addition, there are several active organizations that offer information and support to families affected by Rett syndrome.
    • 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.
    • A key part of our program is the Parent Advisory Group. This group facilitates communication between families and our medical team. They help us disseminate information about new developments in the clinic, and we depend on them to give us feedback about what aspects of families' experiences at Children's can be improved. We are grateful to them for the essential role they play in our program.
    • Some of the members of our Parent Advisory Group also serve as leaders in the Rett Syndrome Association of Massachusetts (RSAM) and the International Rett Syndrome Foundation.
    • The Experience Journal was designed by Children's psychiatrist-in-chief David DeMaso, MD and members of his team. This online collection features thoughts, reflections and advice from kids and caregivers about going through cardiac disease, heart transplants and many other medical experiences.

    For teens

    • Special support for teen girls: Girls with Rett syndrome can experience their own set of difficulties when they enter puberty. They may experience early-onset puberty or never go through puberty at all. Menstrual period may also be painful or difficult to manage. The Center For Young Women's Health offers the latest gender-specific information about sexual and emotional health.

    Other resources

    Please note that neither Children's nor the Rett Syndrome Program at Children's unreservedly endorses all of the information found at the sites listed below.

    • The Rett Syndrome Association of Massachusetts (RSAM) is a nonprofit organization that provides support, education and information to families as well as to the medical and educational communities.
    • The International Rett Syndrome Foundation (IRSF) is dedicated to providing families with the latest medical information and support. It raises public awareness and advocates for those living with Rett syndrome. The IRTTF publishes The Rett Syndrome Handbook, an exhaustive guide for families and medical professionals.
    • The Rett Syndrome Research Trust is a nonprofit organization intensively focused on the development of treatments and cures for Rett syndrome and related MECP2 disorders.
    • This Rett Syndrome Information Page from the National Institute of Neurological Disorder and Stroke has information about the disorder and its prognosis, treatment and research.
    • Children's is part of the Autism Consortium, a group of researchers, clinicians and families dedicated to accelerating research and enhancing clinical care for autism and related disorders including Rett syndrome.
    • This website on Autism, Asperger's syndrome and related disorders provides fact sheets for everyone affected by these disorders, whether directly or indirectly. There is an emphasis on practical strategies.

    Resources throughout Children's

    Children's Center for Patients and Families offers information on the wide array of support services available to families at Children's.

     

    Take a tour of Autism research at Children's
    There's a lot going on in autism research at Children's, from basic biology investigating the cellular underpinnings of ASDs, to clinical studies searching for early signs. Get a window into it all at this autism research slideshow.
  • Research & Innovation

    Research into the history of Rett syndrome

    Because better medical care is allowing many people with Rett syndrome to live longer, there is a lot that needs to be learned about how the disease progresses, what the quality of life is for patients and what we can do to further improve care.

    Children’s is one of four institutions working together to study the natural history of Rett syndrome through the Rare Diseases Clinical Research Network. Researchers from Boston Children's Hospital travel around the United States to evaluate children and adults as part of this study. The study is funded by the National Institutes of Health, including its Office of Rare Diseases Research.

    Pharmacological Treatment of Rett Syndrome by Stimulation of Synaptic Maturation with Recombinant Human IGF-1 (mecasermin [rDNA] injection)

    Principal Investigator: Walter E. Kaufmann, MD

    For information about the IGF-1 trial:

     

    Autism Consortium

    Children’s is part of the Autism Consortium, a group of researchers, clinicians and families dedicated to accelerating research and enhancing clinical care for autism and related disorders including Rett syndrome.
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This department is currently not accepting appointment requests online. Please call us at: 617-355-6000. International +1-617-355-6000.

This department is currently not accepting appointment requests online. Please call us at: 617-355-6000. International +1-617-355-6000.

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Contact the Rett Syndrome Program

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The future of pediatrics will be forged by thinking differently, breaking paradigms and joining together in a shared vision of tackling the toughest challenges before us.”
- Sandra L. Fenwick, President and CEO
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