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Rett syndrome is a rare neurological disorder that affects the grey matter in the brain and leads to physical and mental disability in childhood. The condition is almost exclusively seen in females (one in 10,000–12,000 girls) and only occasionally affects boys.
Some of the symptoms of Rett syndrome are described below.
Early or stage one symptoms (first 6 to 18 months of life)
Stage two symptoms (one to four years)
Stage three symptoms (two to ten years)
Stage four (can last for years and sometimes decades)
The underlying cause of Rett syndrome is a mutation in the gene MECP2. This gene is found on the X chromosome, which is why the condition mainly affects girls. The MECP2gene codes for the MeCP2 protein, which is required for brain development. If this protein is abnormal, the brain fails to develop properly. Rarely, cases of Rett syndrome are seen in males when a child is born with more than one X chromosome (XXY configuration), a condition referred to as Klinefelter's syndrome.
A diagnosis of Rett syndrome is usually based on the child’s symptoms as they develop. Genetic analysis and karyotyping may also be used to detect the mutation that causes this condition.
There is no cure for Rett syndrome and because symptoms can be difficult to manage, children may require help from a variety of professionals. Treatment approaches range from anti-epileptic medications to control seizures, through to physiotherapy, occupational therapy, and hydrotherapy, through to implantation of a pacemaker and the use of beta-blockers to control heart rhythm.