Rett syndrome is a rare but serious neurological disorder that affects about 1 in 9,000 girls in Australia. Even more rarely, boys may be affected.
Early development appears normal, however some time in the first 6 to 18 months of life, the normal pattern of childhood development does not progress.
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. Many children and adults with Rett Syndrome do not learn to sit up on their own, walk or talk.
Rett Syndrome is primarily caused by a sporadic mutation in the MECP2 gene on the X chromosome. The MECP2 gene makes a protein, also called MeCP2, believed to play a pivotal role in silencing, turning off or regulating the activity of other genes. The MECP2 mutation (change in the gene) causes the turn-off/regulatory mechanism to fail, allowing other genes to function abnormally. So, RTT is a genetic disorder of developmental arrest or failure of brain.
Some signs of Rett Syndrome can include –
- Loss of speech
- Inconsolable crying and screaming fits
- Sensory processing disorder
- Gastrointestinal problems
- Delayed or absent ability to walk
- Teething grinding
- Breathing disturbances
- Poor head growth
- Sterotypical hand movements
- Sleeping disturbances
- Heart irregularities
- Digestion issues
Development appears to be normal in early infancy until the MeCP2-related regulation or control is needed. Without these controllers, selected regions of the brain do not develop properly. This explains why the child appears to be developing normally in the first months of life.
Rett syndrome has been most often misdiagnosed as autism, cerebral palsy, or non-specific developmental delay
* Apraxia (dyspraxia), the inability (or reduced ability) to program the body to perform motor movements, is the most severely handicapping aspect of Rett Syndrome. It can interfere with every body movement, including eye gaze and speech, making it difficult for the girl with RS to do what she wants to do.
There is no current cure for Rett Syndrome.
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