Rett syndrome is a problem with the development of the nervous system. It is most common in girls. Boys with Rett syndrome are usually stillborn or die shortly after birth.
Many people with Rett syndrome live into adulthood. Most have severe disabilities, including an inability to talk or walk.
Rett syndrome is most often caused by nonhereditary mutations on a specific gene on 1 X chromosome.
Females have 2 X chromosomes. Males have 1 X and 1 Y chromosome. Males usually die from Rett syndrome because they lack a second normal X chromosome. The second normal X chromosome in girls may provide some protection.
In Rett syndrome, the mutated gene affects methyl cytosine binding protein 2 (MECP2). When it is mutated, there is a deficiency of this important protein. Not everyone with the MECP2 mutation will have Rett syndrome. Some females may be normal or have only mild symptoms.
It is not clear what causes the Rett gene to mutate. Rett syndrome is usually nonhereditary. This means it does not run in families.
There are no known risk factors for Rett syndrome.
Children with Rett syndrome will start developing normally. They will smile, move, and pick items up with their fingers. But by 18 months of age, the developmental process seems to stop or reverse itself. The age of onset and the severity of symptoms are different from person to person. There are 4 stages. Symptoms for each stage include:
Occurs at age 6-18 months
Can last for months and include:
Less eye contact with parentsLess interest in toys and playHandwringingSlow head growthCalm, quiet baby
Occurs at age 1-4 years
Can last weeks to months and include:
Small headDevelopmental/intellectual disabilityInability to purposely use handsLoss of previous ability to talkRepeatedly moving hands to mouthOther hand movements, such as clapping, tapping, or random touchingHand movements stop during sleepHolding breath, gaps in breathing, taking rapid breathsIrregular breathing that stops during sleepTeeth grindingLaughing or screaming spellsDecreased social interactionsIrritabilityTrouble sleepingTremorsCold feetTrouble crawling or walking Occurs at preschool through school years
Can last for years and include:
Difficulty controlling movementSeizuresLess irritability and cryingCommunication that may improve Occurs at age when stage III ceases, can be anywhere from age 5-25
Can last up to decades and include:
Decreased ability to walkMuscle weakness or wastingStiffness of musclesSpastic movementsCurvature of the spineBreathing trouble and seizures that often decrease with age
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You will be asked about your child’s symptoms and medical history. A physical and neurological exam will be done. Genetic testing can often confirm the diagnosis. Your doctor may also do tests to rule out other conditions, like
Some symptoms of Rett syndrome are similar to those of autism. Children with autism, who are more often boys, do not maintain person-to-person contact. Most girls with Rett syndrome, though, prefer human contact to focusing on inanimate objects. These differences may give the first clue in diagnosing Rett syndrome.
Physical and developmental symptoms can often lead your doctor to a Rett syndrome diagnosis.
Your child's bodily fluids may be tested. This can be done with blood tests.
Your child's brain may be tested. This can be done with: Electroencephalogram
There is no cure for Rett syndrome. People with this condition need to be monitored for problems of the bones and heart.
Treatment aims to control symptoms and includes:
Medications that may help with symptoms include: Anticonvulsants to control seizure activityStool softeners or laxatives if constipatedDrugs to help with breathingDrugs to ease agitationDrugs to relieve muscle spasms
To support nutrition, your doctor may recommend: Small, frequent mealsSupplementsTube feeding
if the child is unable to consume enough food
Fluids and high-
foods to help control
These therapies will help manage physical and general care challenges: Occupational therapy—to help those learn to perform daily activities, such as dressing and eatingPhysical therapy—to help with improvement coordination and movementSpeech therapy aids—to build communication skillsSocial workers—to help a family cope with caring for a child with Rett syndrome
Keeping a diary of your child's behaviors and activities helps determine the cause of agitation. The following may help to prevent or control behavior problems: Warm bathsMassageSoothing musicQuiet environment
There is no way to prevent Rett syndrome. If you have questions about the risk of Rett syndrome in your family, talk to a genetic counselor.
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Rett syndrome. EBSCO DynaMed Plus website. Available at:
http://www.dynamed.com/topics/dmp~AN~T115304/Rett-syndrome. Updated August 11, 2016. Accessed September 23, 2016.
Rett syndrome fact sheet. National Institute of Neurological Disorders and Stroke website. Available at:
http://www.ninds.nih.gov/disorders/rett/detail_rett.htm. Updated July 27, 2015. Accessed March 10, 2016.
Last reviewed March 2016 by Kari Kassir, MD
Please be aware that this information is provided to supplement the care provided by your physician. It is neither intended nor implied to be a substitute for professional medical advice. CALL YOUR HEALTHCARE PROVIDER IMMEDIATELY IF YOU THINK YOU MAY HAVE A MEDICAL EMERGENCY. Always seek the advice of your physician or other qualified health provider prior to starting any new treatment or with any questions you may have regarding a medical condition.
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