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Introducing Rett syndrome -

Rett syndrome is a rare genetic disorder that impairs brain development. It is estimated to affect around one in 12,000 girls born every year, and it is only rarely seen in boys.

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Serious disability -

Although some children with Rett syndrome are affected more severely than others, it does tend to cause serious mental and physical disability in its sufferers.

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Four stages of development -

The development of Rett syndrome is generally described in four stages, although the symptoms at each stage overlap with one another to some extent.

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Stage 1 -

Children usually present with stage 1 signs between six and 18 months. Until that point a child with Rett syndrome appears to develop and grow normally.

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Stagnation -

Stage 1 is sometimes called ‘stagnation’ and symptoms include low muscle tone, difficulty feeding, and unusual, repetitive hand movements (among others).

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Stage 2 - Stage 2 is normally referred to as ‘regression’ or the ‘rapid destructive stage.’ It is during this stage that the child begins to lose some of their abilities.

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Regression -

This stage usually occurs between the ages of one and four, and it can last for any length of time between two months and two years.

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Regression -

Signs during this stage include the loss of ability to use the hands purposefully, periods of stress and irritability, and unsteadiness and awkwardness when walking. Later on during this stage the child may experience periods of hyperventilation, or slow breathing (including breath holding).

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Stage 3 -

Stage 3 is often referred to as the ‘plateau’ and can begin as early as two years old, or as late as 10 years old. During this stage some of the stage 2 symptoms may improve.

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Plateau -

For instance, there may be less irritability and crying, as well as an increase in alertness, attention span, and communication.

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Plateau -

However, children in stage 3 may also experience seizures, and their irregular breathing may get worse. It can also be difficult to gain and maintain weight.

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Stage 4 -

Stage 4 involves a deterioration in movement and can last for years, or even decades. The main symptoms include scoliosis, muscle weakness and spasticity, and losing the ability to walk.

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Stage 4 -

In general, communication, language skills, and brain function do not tend to get worse during stage 4. Repetitive hand movements may also improve.

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Stage 4 -

Seizures may also become less of a problem during stage 4, although usually they are a lifelong problem that has to be managed.

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Causes - The vast majority of cases of Rett syndrome are caused by a mutation in the MECP2 gene. This gene contains instructions for producing a particular protein needed for brain development.

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Not genetic -

Usually there is no family history of Rett syndrome, meaning that it is not genetic and not passed from one generation to the next.

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Spontaneous -

Almost all (over 99%) cases of Rett syndrome are spontaneous, meaning that the mutation happens randomly.

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Diagnosis -

Rett syndrome is normally diagnosed based on a child’s symptoms, and after ruling out other more common disorders.

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Often diagnosed late -

Indeed, Rett syndrome is often not diagnosed for several years, because it is so rare and children only start to present with symptoms between six and 18 months.

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Blood test -

If Rett syndrome is suspected, a blood test can identify whether a mutation on the MECP2 gene is responsible for the syndrome.

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Other causes - However, failing to find a change on the MECP2 gene does not necessarily rule out Rett syndrome (since there may be another cause).

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Treatment -

Since there is no cure for Rett syndrome, the focus of treatment is on managing symptoms. There are a number of different treatments and aids from which a child may benefit.

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Aiding communication -

Speech and language therapy, picture boards, and eye-gaze technology may help with communication.

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Other therapies -

Physiotherapy can help with mobility, and occupational therapy can help develop the skills needed for dressing, feeding, and other daily activities.

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Medication -

Some children will need medication for breathing and mobility problems, as well as anti-epileptic medicines to control seizures.

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24-hour care -

Many people with Rett syndrome reach adulthood, and some even live into old age. In the majority of cases, however, 24-hour care is needed throughout their lives.

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Ongoing research -

Rett syndrome is a very challenging condition to live and deal with. While there is currently no cure, scientists are actively looking for ways to treat and prevent the syndrome.

Sources: (NHS)

See also: Reye's syndrome: The illness that affects children

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