Rett Syndrome

What is Rett syndrome?

Rett syndrome is a genetic disorder that causes a loss of spoken language and motor skills, as well as behavioral and neurological problems. Children with Rett syndrome may also have a variety of other medical problems, including intestinal, breathing, orthopedic, and heart complications.

Children with Rett syndrome often have normal development during the first 6 to 18 months of life. After this time, they have a period of regression (loss of skills) and they may lose speech and other developmental milestones. The symptoms can range from mild to severe. Almost all children with Rett syndrome are female.

7 things I’ve learned from Rett syndrome

Every day, I strive to properly appreciate the effort it takes for my daughter to perform the most mundane tasks.

As a mother of a child with Rett syndrome, the phrase “take for granted” takes on a whole new meaning.

What are the symptoms of Rett syndrome?

Children with Rett syndrome have a wide variety of symptoms and a range of physical and mental impairments. Symptoms can include:

  • significantly impaired communication and cognitive (thinking) abilities
  • loss of the ability to speak
  • autistic-like symptoms, such as social isolation or withdrawal and reduced eye contact
  • compulsive hand movements, such as hand wringing, hand clasping, hand clapping, or repeatedly moving the hands toward the mouth
  • loss of motor skills, such as walking or crawling
  • breathing problems, including breath holding and hyperventilation
  • seizures
  • sleep problems
  • gastrointestinal problems, such as reflux and constipation
  • heart rhythm abnormalities, such as QT syndrome
  • scoliosis
  • kyphosis
  • microcephaly (small head size)
  • low muscle tone
  • irritability or agitation
  • teeth grinding (bruxism)
  • difficulty chewing and swallowing (dysphagia)
  • drooling

What are the causes of Rett syndrome?

Rett syndrome results from disease-causing changes in the MECP2 gene located on the long arm of the X chromosome. This gene produces a protein called methyl-CpG binding protein 2, which is important for brain development and is believed to be involved in controlling the function of other genes. This protein is essential for the proper function of nerve cells and communication between neurons (brain cells). The specific job of the protein is not yet well understood. However, harmful changes in the gene lead to the symptoms of Rett syndrome.

Rett syndrome most often occurs as a result of a sporadic, or newly occurring, change in the MECP2 gene that was not inherited from the child’s parents.

Frequently asked questions about Rett syndrome

Why is Rett syndrome usually only found in girls?

Females have two copies of the X chromosome and males have one X and one Y chromosome. The MECP2 gene is found on the X chromosome, so females born with one normal and one changed copy of the MECP2 gene usually develop the symptoms of Rett syndrome. Since males only have one copy of the X chromosome, they don’t have a normal backup copy of the MECP2 gene. Therefore, males with a MECP2 gene change may have an earlier onset of more severe symptoms (congenital encephalopathy). In rare cases, males do have classic Rett syndrome.

My child was fine. Why does Rett syndrome seem to suddenly appear out of nowhere?

The progression of Rett syndrome starts with the disease-causing change in the MECP2 gene. The MECP2 gene makes the MECP2 protein that is essential for brain development and the normal functioning of nerve cells. The problems associated with Rett syndrome begin when the MECP2 protein fails to carry out its duties — just around the time your baby should be reaching important milestones.

Who’s at risk for Rett syndrome?

No risk factors for Rett syndrome have been identified, other than being female. The disease-causing gene variation involved in Rett syndrome occurs at random in a child’s DNA.

How common is Rett syndrome?

The condition affects about one out of 10,000 live female births. Rett syndrome in boys is extremely rare.

If I have one child with Rett syndrome, do my chances of having another child with the condition increase?

Your chances of having another child with Rett syndrome are very small — less than 1 percent. Although Rett syndrome is a genetic disorder, the disease-causing gene change is rarely inherited from parents. It’s a common misconception that “genetic” always means “inherited.” In fact, “genetic” only means “caused by a gene.” Prenatal testing is available for families with a daughter who has an identified MECP2 mutation.

Can Rett syndrome be prevented?

There is no known way to prevent Rett syndrome.

Is there a cure for Rett syndrome?

There’s no cure for Rett syndrome. However, research is underway on new drugs that may improve management of symptoms.

Will my child be able to attend school?

Your child should be able to attend school, but may need special accommodations. Getting early treatment, including physical therapy, speech therapy, and occupational therapy, can help your child learn and communicate.

What’s the long-term outlook for my child?

Rett syndrome is a disease that progresses slowly throughout life. However, the speed at which it progresses varies greatly from child to child. Some children with Rett syndrome may have improvement in their symptoms between ages 2 and 10. During this time, your child may have an increased interest in surroundings, and improved alertness, attention span, and communication skills. Many children with Rett syndrome will remain in this stage for the rest of their lives and have no further decline in communication or motor skills.

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 individuals with the condition survive into their 40s or 50s.

How we care for Rett syndrome at Boston Children’s Hospital

The Boston Children’s Hospital Rett Syndrome Program is dedicated to helping children and adults who have Rett syndrome. We bring together a team of physicians and therapists from various fields who have expertise in Rett syndrome. Our team will work with your child and family to choose the best combination of therapies and medication to manage your child’s symptoms.