Rett syndrome is both a developmental and neurological disorder that you will find mostly in females. Infants who have been afflicted with this syndrome seem to develop and grow normally at first. Then they will stop developing and progress backwards losing both skills and abilities.
For example, the infant with Rett syndrome stops talking even though they were saying certain words. They may also lose their ability to properly walk. They will also stop using their hands to perform certain tasks and often will develop stereotyped hand movements like clapping, wringing or patting their hands.
Rett syndrome is closely thought to be a spectrum disorder of autism. Many people who have this disorder have it due to a mutation on the MECP2 gene. This particular gene is located on the X chromosome.
Rett Syndrome Symptoms
When the baby is between three months and three years of age, the child who has Rett syndrome will start showing some of the following symptoms:
Loss of speech
Loss of purposeful hand movements, that is, reaching for things, grasping with fingers or they stop touching things on purpose
Coordination and balance problems which includes the ability to walk
Anxiety and social-behavioral problems
Stereotypic hand movements. An example of this would be hand wringing
Breathing problems, such as breath holding and hyperventilation or apnea when awake
Mental retardation and intellectual disability
There are numerous other problems common with those who have Rett syndrome. It is usually not a necessity to get a diagnosis concerning Rett syndrome Some other problems will include the following:
Scoliosis, which is a curvature of the spine, and is seen in approximately 80% or girls who have Rett syndrome
Constipation as well as gastro-esophageal reflux
Seizures
Cardiac or problems with the heart, especially problems with the rhythm of the heartbeat
Problems with sleep, especially disrupted sleep patterns at night. There is also an increase in daytime sleep.
Problems with feeding themselves, that is, having trouble swallowing and chewing
Scoliosis or curvature of the spine occurring in about 80% of girls with Rett syndrome
There is no cure for Rett syndrome at the present time. However, girls are able to get treatment for some of the problems that are associated with this condition. The treatments tend to slow the loss of certain abilities encourage communication, improve or preserve movement and encourage social contact as well.
In view of all of the difficulties associated with Rett's syndrome, these people seem to live into middle age and beyond. This condition is rare and that is why very little is known about the life expectancy and long-term prognosis.
Scientists know that those people who have a malfunctioning MECP2 protein tends to disturb the function of mature brain cells. They are not aware of the exact mechanisms as to how this happens.
Scientists and other investigators are trying to find some other genetic mutations that happen to cause Rett syndrome as well as other genetic switches that will operate in a similar way to this special protein.
Once they discover how the MECP2 protein works and they are able to locate similar switches, therapies can be devised that will be a substitute for the malfunctioning switch. Another outcome may be to involve manipulating some of the other biochemical pathways in order to compensate for the MECP2 malfunctioning protein. This may prevent the progression of the disorder.
