Rett syndrome is a recently discovered genetic disorder. It was first discovered and named in 1966 by an Austrian doctor, and was subsequently confirmed by other doctors elsewhere in the world. The syndrome is postnatal, which means it develops in children after they are born, as opposed to most genetic disorders which can be diagnosed before birth.
1. Discriminates With Gender?
One unusual aspect of Rett syndrome is that is affects girls almost exclusively. This is because the genetic mutation that causes Rett syndrome occurs on the X chromosome. Males only have one X chromosome, and most males who develop this mutation do not survive to term and are spontaneously aborted by the body.
The mutation itself appears to be a random one. In other words, Rett syndrome is not genetic. A past family history of Rett syndrome does not indicate a greater likelihood of having a child with Rett syndrome and a family history free from it does not indicate a lesser likelihood of having a child develop this syndrome.
2. A Rarity Around the Globe
Rett syndrome is rare, however, and only affects one out of every ten thousand live female births. Because the mutation is random, this number is true across all demographics and countries of the world. The rarity of this condition means that few people outside the medical profession are aware of it.
3. Lacks Treatment Options
There is no treatment for Rett syndrome, although there are several promising lines of research. Some research indicates that insulin-like growth factor 1 could reverse the signs of genetic mutations. Another line of research suggests that dexomethorphan can be used to fight the toxic effect of a specific neurotransmitter, common in patients with this condition.
Most of the treatment for a child with Rett syndrome is on symptom management. Rett syndrome produces a wide variety of unpleasant symptoms in sufferers. The most distinctive markers of this syndrome are the small hands, feet and head of the children with this syndrome. This aspect, unfortunately, cannot be treated or reversed at this time.
4. Common Symptoms and Associated Health Conditions
However, there are other symptoms that can be treated. These include gastrointestinal issues, scoliosis, and sleep issues, all of which can be treated with medication. People with Rett syndrome tend to have a loss of control over their hands and arms, and this can be treated with occupational or physical therapy.
5. May Not Be Aware for Years
A diagnosis of Rett syndrome is frequently a surprise to the parents. A child with this disorder will appear normal at birth and develop normally until they are between six and eighteen months old, when symptoms begin to appear. From that point, diagnosis can take some time depending on the severity of the symptoms. There are people working to research and develop cures and treatments for this condition. The significant information available now for a condition that is relatively new is encouraging.