Site Map

Rett syndrome

RTT; Scoliosis - Rett syndrome; Intellectual disability - Rett syndrome

Rett syndrome (RTT) is a disorder of the nervous system. This condition leads to developmental problems in children. It mostly affects language skills and hand use.

I Would Like to Learn About:

Causes

RTT occurs almost always in girls. It may be diagnosed as autism or cerebral palsy.

Most RTT cases are due to a problem in the gene called MECP2. This gene is on the X chromosome. Females have 2 X chromosomes. Even when one chromosome has this defect, the other X chromosome is normal enough for the child to survive.

Males born with this defective gene do not have a second X chromosome to make up for the problem. Therefore, the defect usually results in miscarriage, stillbirth, or very early death.

Symptoms

An infant with RTT usually has normal development for the first 6 to 18 months. Symptoms range from mild to severe.

Symptoms may include:

NOTE: Problems with breathing patterns may be the most upsetting and difficult symptom for parents to watch. Why they happen and what to do about them is not well understood. Most experts recommend that parents remain calm through an episode of irregular breathing like breath holding. It may help to remind yourself that normal breathing always returns and that your child will become used to the abnormal breathing pattern.

Exams and Tests

Genetic testing may be done to look for the gene defect. But, since the defect is not identified in everyone with the disease, the diagnosis of RTT is based on symptoms.

There are several different types of RTT:

RTT is classified as atypical if:

Treatment

Treatment may include:

Supplemental feedings can help with slowed growth. A feeding tube may be needed if the child breathes in (aspirates) food. A diet high in calories and fat combined with feeding tubes can help increase weight and height. Weight gain may improve alertness and social interaction.

Medicines may be used to treat seizures. Supplements may be tried for constipation, alertness, or rigid muscles.

Stem cell therapy, alone or in combination with gene therapy, is another hopeful treatment.

Support Groups

The following groups can provide more information on Rett syndrome:

Outlook (Prognosis)

The disease slowly gets worse until the teen years. Then, symptoms may improve. For example, seizures or breathing problems tend to lessen in the late teens.

Developmental delays vary. Usually, a child with RTT sits up properly, but may not crawl. For those who do crawl, many do so by scooting on their tummy without using their hands.

Similarly, some children walk independently within the normal age range, while others:

For those children who do learn to walk at the normal time, some keep that ability for their lifetime, while other children lose the skill.

Life expectancies are not well studied, although survival at least until the mid-20s is likely. The average life expectancy for girls may be mid-40s. Death is often related to seizure, aspiration pneumonia, malnutrition, and accidents.

When to Contact a Medical Professional

Call your health care provider if you:

References

Kwon JM. Neurodegenerative disorders of childhood. In: Kliegman RM, Stanton BF, St. Geme JW, Schor NF, eds. Nelson Textbook of Pediatrics. 20th ed. Philadelphia, PA: Elsevier; 2016:chap 599.

Mink JW. Congenital, developmental, and neurocutaneous disorders. In: Goldman L, Schafer AI, eds. Goldman-Cecil Medicine. 25th ed. Philadelphia, PA: Elsevier Saunders; 2016:chap 417.

BACK TO TOP

Review Date: 10/18/2018  

Reviewed By: Alireza Minagar, MD, MBA, Professor, Department of Neurology, LSU Health Sciences Center, Shreveport, LA. Also reviewed by David Zieve, MD, MHA, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.

ADAM Quality Logo

A.D.A.M., Inc. is accredited by URAC, for Health Content Provider (www.urac.org). URAC's accreditation program is an independent audit to verify that A.D.A.M. follows rigorous standards of quality and accountability. A.D.A.M. is among the first to achieve this important distinction for online health information and services. Learn more about A.D.A.M.'s editorial policy, editorial process and privacy policy. A.D.A.M. is also a founding member of Hi-Ethics. This site complies with the HONcode standard for trustworthy health information: verify here.

The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed medical professional should be consulted for diagnosis and treatment of any and all medical conditions. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. © 1997- 2020 A.D.A.M., a business unit of Ebix, Inc. Any duplication or distribution of the information contained herein is strictly prohibited.

A.D.A.M. content is best viewed in IE9 or above, Firefox and Google Chrome browser.