As a Featured Health and Wellness writer I believe it is my duty to bring attention to the reader’s attention illnesses that are uncommon. One of those illnesses is Rett syndrome. Rett syndrome is a neurobiological disorder which affects primarily female infants. It is quite rare affecting roughly 1 in 10,000.
What is Rett Syndrome?
Rett syndrome affects infants who have already started to say words and develop motor skills. They begin to enter a destructive phase where their vocabulary leaves and they begin to lose their capabilities of walking as well as their hand and leg movements. It becomes evident they have this syndrome when they begin to use hand movements over and over, such as “hand clapping, ringing or patting.” There are a few males who develop this condition, but not many. Far and away most Rett syndrome victims are female and they do not live beyond their thirties.
Rett syndrome is inherited but it is also spontaneous meaning there may not be a history of it in parents or grandparents.
While researches do not know why it is caused they know how it is caused. The “Methyl-CpG-binding protein 2 (MECP 2) on the X- chromosome does not do what it is supposed to.” It is supposed to make Methyl-Cpg binding protein 2 (MeCP2.) This gene is necessary for the child to develop their nervous system. The mutation causes a lack of protein and the body cannot use it. MeCP 2 is also supposed to turn off genes that make proteins and nerve cells. Without it the body keeps making these materials even though they are not needed and with a high amount it actually hurts the nervous system and causes Rett syndrome.
As I said earlier typical features of Rett syndrome include purposeful hand movements, loss of speech, repetitive movements and later anxiety, social behavior problems and intellectual disabilities. People with Rett Syndrome typically have seizures, cardiac problems and have trouble feeding themselves.
The syndrome moves through four phases including the early onset phase where development stalls or stops, the rapid destructive where skills are lost quickly, the plateau phase where regression slows and the late motor deterioration phase where their body deteriorate to the point where it is going to stay.
While there is no cure for Rett syndrome, physical therapists, occupational therapists and speech language therapists can assist in maintaining the skills they do have.
Rett syndrome is a condition that does not make the front page. However we should be aware of it and continue to teach ourselves about those illnesses that are not well known.
“Rett Syndrome,” Brochure, NICHD