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Children with Rett syndrome display a wide variety of symptoms, and the disorder is seen with differing levels of severity.
- Language - Language and motor skills are usually affected, and many patients lose the ability to speak.
- Hand movements - Distinctive and repeated patterns of hand movements, called stereotypies, are seen which are unique to each child and may change over time.
- Apraxia - The inability or impaired ability to program the body to perform movements underlies the loss of language and motor functions.
Symptoms may resemble:
Children with Rett syndrome also frequently have alterations in communication and language similar to those seen in autism and other developmental disorders. Rett syndrome sometimes resembles and may be diagnosed initially as autism, cerebral palsy, or developmental delay.
Other neurological symptoms may include:
- seizures
- sleep disruption
- tremors
- excess salivation
Symptoms that affect other parts of the body may include:
- breathing irregularities including breath-holding and hyperventilation are common
- gastrointestinal problems such as reflux and constipation
- heart rhythm abnormalities
- orthopedic problems such as scoliosis
- microcephaly (small head size)
- low muscle tone
- dystonia (abnormal muscle tone and position)
Some children develop early or delayed puberty, osteoporosis (low bone mineral density), gall bladder disease or have problems with teeth grinding, cold small hands and feet, and skin changes. Nutrition and feeding are a frequent problem.
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Rett syndrome is a neurodevelopmental disorder associated primarily with mutations in a gene on the X chromosome and most people affected are girls. In the majority of cases, these mutations are in the MECP2 gene. The syndrome is named after Dr. Andreas Rett who first described the disorder in the 1960s.
