What is Rett Syndrome?

Rett syndrome is a rare neurological disorder affecting mainly females (about 1 in every 12,000 female births) and very few males. It was first described in 1966 by the Austrian doctor, Andreas Rett.

Genetic but largely not inherited, Rett syndrome is usually caused by a fault on a gene called MECP2 which is found on the X chromosome. This is why it generally affects females as they have two X chromosomes. This gene contains instructions to make a particular protein (MeCP2) that is vital for brain development. The gene abnormality prevents nerve cells in the brain from working properly.

People with Rett syndrome have profound and multiple physical and communication disabilities and are totally reliant on others for support throughout their lives. Experts generally describe four stages of the disease, although symptoms will overlap between each stage. The main features of each stage are described below.

Stage one: early signs and slow development

This describes the changes that typically appear in the first six to 18 months of the infant's life. These include:

• A general slowness in development
• Floppiness (hypotonia)
• Difficulty feeding
• Abnormal hand movements (such as repeatedly making wringing, clapping or washing motions with the hands)
• Lack of interest in toys
• • poor co-ordination of trunk and limbs

Stage two: regression

'Regression' or the 'rapid destructive stage', is where a child starts to lose some of their abilities. This stage usually begins between the ages of one and four and may last for weeks or months. A child will gradually or suddenly start to develop severe problems with communication, language, learning, co-ordination and other brain functions.

Signs at this stage include:

• no longer able to use the hands purposefully – repetitive and uncontrollable hand movements take over
• periods of distress, irritability and sometimes screaming for no obvious reason
• social withdrawal, a loss of interest in people and avoidance of eye contact
• unsteadiness and awkwardness when walking
• rapid or slow breathing, including periods where the child holds their breath
• problems sleeping
• slowing of head growth/small head size
• difficulty eating, chewing or swallowing and tummy aches, bloating and constipation

Stage three: plateau

This usually begins between ages two and 10 and can last for years. At this stage, girls are considered to have emerged from the period of regression in stage two.

There may be some improvements in earlier problems during this stage as well, such as:

• floppiness of the limbs and difficulty moving around
• not being able to use their hands to hold, carry or manipulate objects, with the persistence of repetitive hand movements
• teeth grinding and abnormal tongue movements
• not gaining much weight

Many children will also develop seizures (epilepsy), irregular breathing patterns and some may develop heart rhythm abnormalities.

There may be some improvements in earlier problems during this stage as well, such as:

• an improvement in behaviour, with less irritability and crying
• increased interest in her surroundings
• improvements in alertness, attention span, interest in people and communication
• improvement in walking ability (or learning to walk, if previously unable to do so)

Many girls remain in this stage for most of their life.

Stage four: deterioration in movement

This can last for years or even decades. The main symptoms at this stage are:

• the spine bending to the left or right side (scoliosis)
• spasticity (abnormal stiffness, especially in the legs)
• loss of the ability to walk

The repetitive hand movements may decrease by this stage and eye gaze usually improves. The seizures also usually become less of a problem in adolescence and early adult life, although they will normally be a lifelong problem to manage.

(adapted from Rett UK 'About' page and NHS Choices website)

 

One very reassuring thing we have learnt is that Rett girls are not brain damaged. They are as intelligent as their peers – it’s their body failing them and they are ‘locked in’. That’s not to say they can’t express themselves! Abbie certainly tells us what she wants and likes!!