What Is Rett Syndrome?

Rett Syndrome is a neurological and developmental disorder which affects female patients nearly exclusively. The symptoms of this syndrome vary from person to person. However, there are some tell-tale signs that most doctors in the UK recognise almost immediately. They include slowed physical development, such as slowed head and brain growth in girls. It is also characterised by an inability to properly use one's hands, as well as problems walking. Intellectual disabilities occur as a result, and many people who have Rett Syndrome, also suffer from seizures. The disorder was recognised widely after an article that was written and published in 1983 by Swedish researcher Dr. Bengt Hagberg.

There are four stages associated with Rett Syndrome. The first stage is called early onset, and it takes hold between the ages of 6 and 18 months. During this stage, the slowed developmental processes are not as easily detected. Infants tend to exhibit less eye contact than normal, and they might not respond normally to stimuli such as toys or movements. Motor skills such as crawling, sitting up, or responding quickly to signs are slowed. This stage occurs for a few months, or even up to a year.

The second stage of Rett Syndrome is considered to be the rapid destructive stage. This occurs when the child is between 1 and 4 years old. Depending on the child, the onset of this stage might occur slowly or rapidly. During stage 2, children often exhibit inappropriate hand motions. Clapping, tapping, and moving hands to the mouth repeatedly are primary indicators. Random movements consisting of grabbing and clutching at objects occurs. One of the more dangerous aspects of this stage is that breathing irregularities take place. This results in sleep apnea issues. In some instances, the stage two characteristics closely resemble those of an autistic child.

Stage 3 is often referred to as the "pseudo-stationary stage." The stage most commonly occurs when the child is between 2 and 10 years old. Seizures and motor problems are the most recognisable. A tricky aspect of this stage is that there might appear to be improvement in the child, with less autistic-like symptoms taking place. Girls who are in stage 3 might actually show more interest in natural surroundings. The attention span and general alertness also improves. Many of the girls who suffer from Rett syndrome remain in stage 3 for a majority of their lives.

Finally, stage 4 is considered to be the motor deterioration stage. This stage lasts for many years in most girls. Primary indicators are a curvature of the spine, reduced overall mobility, spasticity, abnormal posturing, and muscle weakness. Those who suffer from stage 4 might not be able to continue to walk normally. During stage 4, however, communication and cognition do not tend to decline. Some patients do see improvements in motor skills over time. Different forms of treatment can be affective for girls who exhibit specific disabilities during each of these primary stages of Rett Syndrome.