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Rett Syndrome

Authors:
  • Debra Wood, RN
Publication Type:

Condition

Rett Syndrome

(Rett’s Disorder)

Definition

Rett syndrome is a problem with the development of the nervous system. It can lead to severe disabilities like not being able to walk or talk.

Many people with Rett syndrome live into adulthood.

Causes

Rett syndrome is most often caused by changes to a specific gene on 1 X chromosome. This change is not passed from parent to child. It is not known why the gene changes.

The changed gene leads to problems with a key protein that helps the brain and body grow. This can cause other problems.

Risk Factors

Girls are at higher risk for Rett syndrome than boys. Boys who have Rett syndrome do not survive long after birth.

Symptoms

Children with Rett syndrome will start growing normally and meeting milestones. By 18 months they stop making progress and may no longer be able to walk or pick up items with their hands. The age of onset and how bad the symptoms are differ from person to person. There are 4 stages. Symptoms for each stage include:

Diagnosis

The doctor will ask about symptoms and health history. A physical and neurological exam will be done. Genetic testing can often help with the diagnosis. Tests may be done to rule out other conditions, like autism .

Some symptoms of Rett syndrome are like those of autism. Children with autism, who are more often boys, do not keep person-to-person contact. Most girls with Rett syndrome prefer human contact to focusing on inanimate objects. These differences may help diagnose Rett syndrome.

Physical and developmental symptoms can often lead the doctor to a Rett syndrome diagnosis.

Blood tests will be used to help confirm Rett syndrome.

Tests on the brain may be done, such as:

Treatment

The goal of treatment is to control symptoms. There is no cure for Rett syndrome. People with this condition need to be watched for bone and heart problems.

Treatment may include:

Prevention

There is no way to prevent Rett syndrome. Talk to a genetic counselor with any questions about the risk of Rett syndrome in the family.

Stage 1

  • Starts at age 6 to 18 months
  • Can last for months and include:
    • Less eye contact with parents
    • Less interest in toys and play
    • Hand wringing
    • Slow head growth
    • Calm, quiet baby
RESOURCES:

CANADIAN RESOURCES:

CANADIAN RESOURCES:

References

  • Kazantsev, A.G., Thompson, L.M. Therapeutic implication of histone deacetylase inhibitors for central nervous system disorders. Nature Review Drug Discovery, 2008; 7: 854-868.
  • Rett syndrome. EBSCO DynaMed website. Available at: https://www.dynamed.com/condition/rett-syndrome.
  • Rett syndrome fact sheet. National Institute of Neurological Disorders and Stroke website. Available at: https://www.ninds.nih.gov/rett-syndrome-fact-sheet.
  • 7/17/2023 DynaMed Systematic Literature Surveillance https://www.dynamed.com/condition/rett-syndrome: FDA approves first treatment for Rett syndrome. FDA website. Available at: https://www.fda.gov/drugs/news-events-human-drugs/fda-approves-first-treatment-rett-syndrome.

Contributors

  • Chelsea Skucek, MSN, BS, RNC-NIC
Last Updated:
2022-08-01

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This content is reviewed regularly and is updated when new and relevant evidence is made available. This information is neither intended nor implied to be a substitute for professional medical advice. Always seek the advice of your physician or other qualified health provider prior to starting any new treatment or with questions regarding a medical condition.