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Rett Syndrome: Symptoms, Causes, and Treatments

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Rett syndrome is a rare neurodevelopmental (brain and nerve) disorder. Children with Rett syndrome appear to develop typically in the first year of life, but they lose the ability to use their hands purposefully. Other development then slows as they get older.

Rett syndrome causes developmental challenges throughout childhood. As children get older, these challenges stop progressing but do not go away. People with Rett syndrome may have challenges throughout their lives, although they can live to middle age or have close to a typical lifespan.

Rett Syndrome

Who might get Rett syndrome?

Rett syndrome almost exclusively affects females. About 1 in every 10,000 to 15,000 baby girls are born with Rett syndrome. It affects babies of all racial and ethnic groups.

What causes Rett syndrome?

Rett syndrome is a genetic syndrome. It occurs because of a mutation (change) in the MECP2 gene. This mutation occurs spontaneously (randomly). It is not usually inherited. The chance of passing down Rett syndrome from a healthy parent to a child is less than 1%.

What are the symptoms of Rett syndrome?

Babies may not show any signs of Rett syndrome in the first few months or years of life. As they get older, signs of developmental delays or other symptoms become more apparent. Rett syndrome symptoms primarily affect children’s:

  • Behavioral development.
  • Language skills.
  • Motor skills and especially hand use.

About 85% to 90% of people who have Rett syndrome have muscle weakness and slowed growth. These symptoms often occur because children have difficulty swallowing or chewing. Swallowing problems can lead to not eating enough.

Other symptoms of Rett syndrome include:

  • Hand-wringing, squeezing or hand-to-mouth movements.
  • Apraxia, a lack of ability to say the correct words or perform familiar movements on command.
  • Breathing issues.
  • Autism-like behaviors, such as lack of eye contact, disinterest in socializing or panic attacks.
  • Balance and coordination challenges.
  • Epilepsy or seizures.
  • Muscle weakness or spasticity.

How does age affect a child’s Rett syndrome symptoms?

Rett syndrome progresses in four stages. Children show slightly different symptoms during each stage. Not everyone goes through every stage. For example, some people with Rett syndrome are never able to walk.

Rett syndrome stages are:

  • Stage I, early onset, starts when a child is between 6 and 18 months. Children may show a subtle slowing of development, such as delays in crawling or lack of eye contact.
  • Stage II, rapid progressive stage, usually occurs between ages 1 to 4 years. Children may lose some language skills and use of their hands. They may constantly wring their hands. Some children also experience autism-like behaviors and lack interest in socializing.
  • Stage III, plateau or pseudo-stationary stage, usually occurs between ages 2 and 10. This stage can last for years. Children’s behavior may improve, but they may lose motor function. Seizures are also common during this stage.
  • Stage IV, late motor deterioration stage, may occur at any time after stage III. Children typically lose some walking skills, mobility and muscle strength. But in this stage, most people keep their communication and thinking abilities.

How is Rett syndrome diagnosed?

Usually, parents first notice symptoms of Rett syndrome during a child’s early years. Healthcare providers who suspect that a child may have Rett syndrome use a genetic test to look for the MECP2 gene mutation. This genetic screening is a blood test. It doesn’t require any special preparation or a hospital stay.

How is Rett syndrome treated?

Rett syndrome treatment varies based on specific symptoms. For example, children who have seizures may take antiseizure medications. For difficulty with motor skills and language, children may benefit from:

  • Occupational therapy.
  • Physical therapy.
  • Speech therapy.

Your child may need care from other specialists, such as:

  • Neurologists.
  • Nutritionists.
  • Psychiatrists.
  • Gastroenterologists.

What are the complications of Rett syndrome?

Some Rett syndrome symptoms can increase a child’s risk of health complications. For example, swallowing problems or breathing issues can lead to a risk of aspiration pneumonia. This type of pneumonia occurs when food, saliva or other liquids go into the lungs instead of the stomach.

Children who have scoliosis may also develop lung problems. Uncontrolled seizures also can increase the risk of health complications.

Is there a cure for Rett syndrome?

There is no cure for Rett syndrome. When children receive appropriate treatment, they often manage their symptoms effectively into adulthood.

How can I prevent Rett syndrome?

Because a random gene mutation causes Rett syndrome, there is nothing parents can do to prevent it. However, if you have a family member with Rett syndrome, you may ask your healthcare provider about genetic testing. Genetic counselors can guide prospective parents about health risks and possible treatment options.

What is the outlook for people with Rett syndrome?

The long-term effects of Rett syndrome can vary significantly. Almost all people with Rett syndrome will need caregiver support for their whole life.

Many people with Rett syndrome live a high quality of life well into their 40s and beyond. For some people, other health complications may shorten life expectancy.

Some neurological disorders share similar symptoms with Rett syndrome. Some of these conditions include:

  • Angelman syndrome causes developmental delays and involuntary movements.
  • CDKL5 can lead to seizures and severe impairment of the brain .
  • FOXG-1 disorders can lead to seizures, developmental delays and intellectual disabilities.

What else should I ask my doctor?

You may want to ask your healthcare provider:

  • How can I support my child’s development?
  • What specialists should my child see?
  • What changes should I expect to see in my child over time?
  • Can I care for my child at home, or do I need outside support?
  • How much and what type of regular medical care will my child need?
  • Should I or my other children be tested for the gene mutation that causes Rett syndrome?
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