What is Rett Syndrome?
Rett syndrome is a neurodevelopmental disorder that affects mostly females. The majority of Rett syndrome cases are caused by a mutation in the MECP2 gene required for brain development, however not all individuals who present with the gene mutation has Rett syndrome. The course, age of onset and severity of the syndrome varies depending on the individual but is typically characterised by normal early development. This is usually followed by a slowing of development, the loss of purposeful hand use and distinctive hand movements, slowed brain and head growth, problems with walking, seizures and intellectual disability
Although Rett syndrome is a genetic disorder, less than 1 percent of recorded cases are inherited as most cases are spontaneous. Rett syndrome affects 1 in every 10,000 to 15,000 live female births and does not occur more often in any race or ethnic group. Families of children known to have the MECP2 mutation can have prenatal testing however as the disorder occurs spontaneously in most cases, the risk of having a second child with Rett Syndrome is less than 1 percent.
The 4 Stages of Rett Syndrome:
Stage I/Early Onset Stage:
- Begins around 6 and 18 months of age and can last from a few months to a year.
- Early onset signs include: subtle decrease in eye contact, reduced interest in toys, delayed gross motor skills e.g. sitting, crawling, hand-wringing and decreasing head growth.
Stage II/Rapid destructive Stage:
- Begins between ages 1 and 4 and may last for weeks or months. The onset can be gradual or rapid.
- Destructive Stage Symptoms include; Hand movements such as wringing, washing, clapping, or tapping. Repeated movements of the hands to the mouth, holding the hands clasped behind the back or held at the sides coupled with random touching, grasping, and releasing. These movements are present while the individual is awake however are not present during sleep. Breathing irregularities such as episodes of apnea and hyperventilation may also occur during this stage. Some individuals also display symptoms similar to those with Autism such as loss of social interaction and communication. Initiating motor movements such as walking can be difficult and slowed head growth often occurs at this stage.
Stage III/Plateau or Pseudo-stationary stage:
- This stage typically begins between ages 2 to 10 years and can last for years and is most often present for the individual’s entire life.
- Plateau Stage Symptoms include: Apraxia, motor problems, and seizures. Improvements in behavior are often seen during this stage. The individual is more alert and less irritable, has an increased attention span, show more interest in their surroundings and communication skills may also improve.
Stage IV/late motor deterioration stage:
- This stage can last for years or decades.
- Motor Deterioration Stage symptoms include: reduced mobility or loss of ability to walk, Scoliosis (curving of the spine) and muscle weakness, rigidity, spasticity, and increased muscle tone, abnormal upper body and limb posture. Eye gaze often improves and cognition, communication and hand skills tend to remain stable during this stage.
You can read more about Rett Syndrome at: Rettsyndrome.org
For more information on this topic or any speech related fields, contact the ENT Clinic on 1300 123 368 and make an appointment with our Speech Pathologist Ashleigh Fattah.