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Rett Syndrome


Disease: Rett Syndrome Rett Syndrome
Category: Psychiatric diseases
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Disease Definition:

The severe, genetic disorder that affects the way in which the brain develops is called Rett syndrome. This syndrome produces symptoms similar to those of autism and it occurs almost exclusively in girls.

At first, most babies with Rett syndrome develop normally; however, by the time they reach 18 months of age, their progress often slows. A child’s ability to walk, chew, use their hands, speak and even breathe may be affected over time, because Rett syndrome causes increasing problems with motor function.

Treatment focuses on improving movement and communication and providing care and support for affected children and their families, however, there’s no cure for Rett syndrome.

Work Group:

Prepared by: Scientific Section

Symptoms, Causes


From child to child, symptoms of Rett syndrome vary. Some children have seizures along with other symptoms of Rett syndrome, others may retain the ability to speak and have milder symptoms, while others may show signs of the disorder from birth, with no period of normal development.

There are four stages of Rett syndrome:

Stage I:
During the first stage of Rett syndrome, which starts between 6 months and 18 months of age, signs and symptoms are subtle and easily overlooked. In this stage of Rett syndrome, babies may start to lose interest in toys and show less eye contact. They may also have delays in sitting or crawling.

Stage II:
Children with Rett syndrome gradually lose the ability to speak and use their hands purposefully when this condition starts between ages of 1 and 4 years. During this stage, repetitive, purposeless hand movements begin, such as tapping, clapping, washing or wringing. With Rett syndrome, some children may scream or cry without provocation and hold their breath or hyperventilate. Initiating movement is often difficult for them. During this stage, slowing of head growth is usually noted.

Stage III:
Between the ages of 2 and 10, the third stage usually begins, which is a plateau. Behavior may improve but problems with mobility continue. In this stage, children may show an improvement in nonverbal communication skills, attention span and alertness, they also cry less and aren't as irritable. With Rett syndrome, many people remain in stage III for the rest of their lives.

Stage IV:
Reduced mobility, muscle weakness and scoliosis, which is an abnormal curvature of the spine, are the things that mark the last stage. During this stage, hand skills, understanding and communication usually don't decline any further. As a matter of fact, repetitive hand movements may decrease. Most people with Rett syndrome live into their 40s or 50s, despite the fact that sudden death in sleep is possible. These people need care and assistance throughout their lives. 

Parents should be alert for changes in a child's behavior, especially loss of interest in normal play or lack of eye contact because symptoms of Rett syndrome can be subtle in the early stages. If parents notice these signs, they should consult their child's doctor right away.


Mutations in the MECP2 gene, which is involved in making a protein essential for normal brain development, are the cause of most cases of Rett syndrome. One of the two chromosomes that determine a person’s sex is the X chromonome, on which the MECP2 gene is situated.
In every cell, girls have two X chromosomes. Each cell automatically inactivates one of its two X chromosomes because a cell needs only one working copy of the gene. The symptoms of Rett syndrome will be less severe the more cells that have the mutated gene are inactivated.

The mutation of MECP2 isn’t typical in about 20% of girls with Rett syndrome. Researchers think that these children may have mutations in genes that haven't yet been identified or in a different part of the gene.

For most boys, the story is very different. Boys normally have one Y and one X chromosome in each cell, unlike girls. Boys who have the genetic mutation that causes Rett syndrome aren't protected from the devastating effects of the disease because the single X chromosome can't be inactivated. So most of them die before birth or in early infancy.  
A few boys have an extra X chromosome in many or all of their cells and if they have an MECP2 mutation, they may survive. A very small number of boys have mutations in the MECP2 gene in a few cells, and they are likely to live to adulthood as well.

What causes the genetic mutation?
Rett syndrome is inherited in only a few cases despite the fact that it's a genetic disorder. Instead, the genetic mutation that causes the disease occurs randomly and spontaneously, sometimes after conception and usually when sperm are formed.  

Occurring in one out of every 10.000 to 20.000 births, Rett syndrome is rare. Children of all races and nationalities are affected by this syndrome. Having genetic mutations known to cause the disease is the only known risk factor.



With Rett syndrome, most children have trouble eating, so when compared to other children, they often weigh less and are shorter. Some children need to be fed through tubes placed in their noses or stomachs to maintain proper nutrition. Additionally, constipation can be a severe and chronic problem.

Some of the other common problems include:


  • Bone fractures
  • Scoliosis, which is the abnormal curvature of the spine
  • Unusual heart rhythms called cardiac dysrhythmias
  • Seizures


A multidisciplinary approach, including regular medical care; physical, occupational and speech therapy; and academic, social and vocational services are required in treating Rett syndrome. As children become older, the need for this level of care and support doesn't end and it's usually necessary throughout life.

Children and adults with Rett syndrome may benefit from these treatments:
Medications may help control some of the symptoms associated with Rett syndrome, such as seizures and muscle stiffness, but they can't cure the disorder.

Nutritional support:
For both improved mental and social functioning and for normal growth, proper nutrition is extremely important. With Rett syndrome, some children may respond to a high-fat, high-calorie diet, while others may need to be fed through a tube placed directly in the stomach or in the nose (nasogastric tube).

Physical and speech therapy:
The use of braces or casts and physical therapy can help children who have scoliosis. Occupational therapy may improve purposeful use of the hands, while physical therapy can help maintain walking skills, balance and flexibility in some cases. Splints that restrict elbow or wrist motion may be helpful if repetitive arm and hand movement is a problem. When their habitual movement is disrupted, children with Rett syndrome may show improvements in their overall functioning. By teaching nonverbal ways of communicating, speech therapy can help improve a child's life.


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