Rett syndrome is a disorder of the nervous system that leads to developmental problems in children, especially in the areas of language and hand use.
Rett syndrome occurs almost always in girls. It may be diagnosed as autism or cerebral palsy.
Most Rett syndrome 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 1 chromosome has this defect, the other X chromosome is normal enough for the child to survive.
An infant with Rett syndrome usually has normal development for the first 6 to 18 months. Symptoms range from mild to severe.
Symptoms may include:
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 in Rett syndrome 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.
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 Rett syndrome is based on symptoms.
There are several different types of Rett syndrome:
Rett syndrome is classified as atypical if:
Treatment may include:
Supplemental feedings can help with slowed growth. A feeding tube may be needed if the child breathes in (aspirates) food. Diets 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 other problems such as constipation, alertness, or rigid muscles.
Stem cell therapy, alone or in combination with gene therapy, is another hopeful treatment.
International Rett Syndrome Foundation --
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 regression or delays vary. Usually, a child with Rett syndrome 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 of a girl with Rett syndrome may be mid-40s. Death is often related to seizure, aspiration pneumonia, malnutrition, and accidents.
Call your health care provider if you:
Liyanage VR, Rastegar M. Rett syndrome and MeCP2. Neuromolecular Med. 2014;16:231-64. PMID 24615633
Raviola G, Gosselin GJ, Walter HJ, DeMaso DR. Pervasive developmental disorders and childhood psychosis. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF, eds. Nelson Textbook of Pediatrics. 19th ed. Philadelphia, PA: Elsevier Saunders; 2011:chap 28.
Last reviewed on: 11/5/2014
Reviewed by: Joseph V. Campellone, M.D., Division of Neurology, Cooper University Hospital, Camden, NJ. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Isla Ogilvie, PhD, and the A.D.A.M. Editorial team.