For girls, Rett Syndrome is one of the scarier neurodevelopmental disorders that can occur. It can affect boys too, but it attacks girls almost exclusively. At first, the development of the child seems normal and it follows healthy patterns, including in growth. Then development begins to slow down and the child will begin to lose the use of their hands. There are distinctive movements within the hands as well, then slowed brain growth occurs, and eventually the child has problems walking and winds up with an intellectual disability.
Statistics About Rett Syndrome
1. There is no cure for Rett Syndrome.
2. Rett syndrome is estimated to affect one in every 10,000 to 15,000 live female births.
3. It occurs equally in all racial and ethnic groups around the world.
4. Prenatal testing is available to determine if there are specific gene mutations that may increase the chances of Rett Syndrome development.
5. Having a second child with Rett Syndrome after having a first child diagnosed occurs in fewer than 1% of instances worldwide.
6. For girls who survive the destructive stages, the total population effect of Rett Syndrome affects an estimated 1 in 8,500 girls and women.
7. In more than 99 percent of people with Rett syndrome, the condition is not inherited.
8. Many girls live into adulthood, requiring total, 24-hour-a-day care.
9. The prevalence of Rett Syndrome equals that of Cystic Fibrosis, Huntingtons, and ALS.
10. About 85% of girls exhibiting Rett Syndrome symptoms have one of the over 200 currently identified MECP2 mutations.
11. In the United States, about 16,000 children and women are affected by Rett Syndrome.
12. Less than 5% of the cases of Rett Syndrome that occurs in childhood results in the death of the child.
13. 1 out 4 children who die after a diagnosis of Rett Syndrome do so without any acute injury or infection present.
14. The brains of girls with Rett Syndrome tend to be about 30% smaller than normal.
15. One of the most common symptoms of Rett Syndrome is ongoing and constant constipation, occurring in 90% of cases.
16. Studies in Sweden yielded a prevalence rate of 1:10,000 cases per female births, which is the highest rates in the world today.
17. Rett individuals have an estimated 70% survival at age 35 years.
18. For women who have severe intellectual disabilities, the survival rate drops to 27% by the age of 35.
Facts About Rett Syndrome
It is called Rett Syndrome because of the doctor who first described it in 1966. It took 17 years, however, for this disorder to be recognized. Part of the difficulty of Rett Syndrome is that the course of the symptoms can vary from child to child. Symptoms may appear gradually or may begin appearing all at once. Some children have signs of an abnormality at birth, but others show no signs whatsoever until the issue becomes pronounced.
The worst part about Rett Syndrome is Apraxia. The child loses the ability to perform basic motor functions, including speech. Many times children will have trouble sleeping, grind their teeth, or be found having a preference to walk on their toes. The rapidly destructive stage usually occurs by the age of 4 and it can last for weeks or months at a time. It is unfortunately a syndrome that will affect girls over the course of their entire lives and although it is believed that partial gene deletions are the cause of the problem, only gene mutations have been identified in girls with this disorder.
Rett Syndrome is diagnosed by doctors who observe the symptoms and signs of it during the child’s early development. A genetic test has also been designed to help compliment a clinical diagnosis for better confirmation. Infections that cause neurological problems, brain injuries, or abnormal motor function that occurs in the first 6 months excludes Rett Syndrome. It is considered to be part of the autism spectrum and is the most debilitating form of it.
Difficulty with Retts
One of the most difficult parts of Rett Syndrome is that it isn’t part of the regular screening process. Looking for the gene mutation must either be specifically requested by an expectant mother or ordered because of suspicious results found on during an examination. Even though these mutations are more common than other pregnancy issues that are part of the standard testing protocol, Rett is still commonly written off as unimportant. It receives a fraction of the funding of other disorders or diseases.
Part of the issue might be the fact that Rett rarely causes an early fatality. Funding may be sent toward diseases that have high fatality rates, such as ALS, in order to find cures or prolong life spans in that area. That doesn’t help the children who are affected by this syndrome, however, because they are almost guaranteed to have a life of total 24/7 care. With struggles in breathing, eating, and total support in the activities of daily living, it is a completely dependent existence.
Heart functions can also become problematic for a girl with Rett. At the age of 5, it is recommended that all children with Rett receive an ECG every other year if the results turn out to be normal. Minimizing stress and providing comfort are the primary ways this syndrome is managed and medications can help to prevent seizures, limb spasms, and some of the other problems which occur when Rett is at its destructive best.
Rett Syndrome is one of those things that are the stuff of nightmares for new parents. Everything seems so normal and then that normalcy is ripped away. For the girls that are affected by Rett, being locked into place for a lifetime with very little self-expression must be even more difficult. By supporting the families who are dealing with Rett, spreading awareness of this syndrome, and by being aware of the statistics, research can help lead to new treatments and perhaps a cure for this debilitating problem.