What is Rett syndrome?
Rett syndrome is a neurological and developmental disorder that mostly occurs in females. Infants with Rett syndrome seem to grow and develop normally at first, but then stop developing and even lose skills and abilities.
For instance, they stop talking even though they used to say certain words. They lose their ability to walk properly. They stop using their hands to do things and often develop stereotyped hand movements, such as wringing, clapping, or patting their hands.
Rett syndrome is considered one of the autism spectrum disorders. Most cases of Rett syndrome are caused by a mutation on the MECP2 gene, which is found on the X chromosome. For more information on the MECP2 gene, see the What causes Rett Syndrome? section of NICHD's Rett Syndrome publication.
What are the symptoms of Rett syndrome?
Beginning between 3 months and 3 years of age, most children with Rett syndrome start to show some of the following symptoms:
- Loss of purposeful hand movements, such as grasping with fingers, reaching for things, or touching things on purpose
- Loss of speech
- Balance and coordination problems, including losing the ability to walk in many cases
- Stereotypic hand movements, such as hand wringing
- Breathing problems, such as hyperventilation and breath holding, or apnea when awake
- Anxiety and social-behavioral problems
- Intellectual disability/mental retardation
There are a number of other problems common among those who have Rett syndrome. But having these problems is not necessary to get a diagnosis of Rett syndrome. These problems can include:
- Scoliosis, a curving of the spine that occurs in approximately 80 percent of girls with Rett syndrome
- Constipation and gastro-esophageal reflux
- Cardiac or heart problems, specifically problems with the rhythm of their heartbeat
- Problems feeding themselves, trouble swallowing and chewing
- Problems with sleep, specifically disrupted sleep patterns at night and an increase in total and daytime sleep.
For more details on symptoms of Rett syndrome and other associated problems, see What are the typical features of Rett syndrome? in NICHD's Rett Syndrome publication.
Reprinted with the permission of the National Institute of Child Health and Human Development.
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