Rett syndrome is a rare but serious neurological disorder that
affects about 1 in 9,000 girls. Even more rarely, boys may be
affected.
In 1999, it was discovered that Rett syndrome is commonly
associated with a mutation in the MECP2 gene. The clinical
diagnosis has often been uncertain in early childhood as the
symptoms may be confused with those occurring in other disorders
such as autism, cerebral palsy and non-specific global
developmental delay. However, since the discovery of the
association with abnormalities in the MECP2 gene the
clinical diagnosis is now often confirmed by genetic testing.
- In most cases, early development is normal.
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- However, some time in the first 6 to 18 months of life, the
normal pattern of childhood development does not progress.
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- In most cases there is a loss of communication and hand skills
and the development of unusual hand movements, such as wringing,
clapping and mouthing.
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- During this time the child may display autistic features and
appear agitated and distressed.
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- In the long term, most children are no longer able to talk and
many find it difficult or are unable to walk.
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- Other clinical features include poor growth, seizures, spinal
curvature, altered breathing patterns, low bone density,
gastrointestinal and sleeping problems.
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- Therefore, Rett syndrome is usually associated with severe
disability and sometimes with considerable health problems.
However, despite this many parents find that over time, their
daughter may appear to improve in her social awareness and
communication skills, and may learn more gross motor skills.
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