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What is Rett like syndrome?

Rett syndrome is a rare genetic disorder that affects brain development, resulting in severe mental and physical disability. It is estimated to affect about 1 in 12,000 girls born each year and is only rarely seen in boys.

nhs.uk - Rett syndrome - NHS

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It is estimated to affect about 1 in 12,000 girls born each year and is only rarely seen in boys.

Signs and symptoms

Some children with Rett syndrome are affected more severely than others. Also, the age at which symptoms first appear varies from child to child. A child may not have all the symptoms of Rett syndrome and their symptoms might change as they get older. Rett syndrome is described in 4 stages, although symptoms will often overlap between each stage. These are the main features of each stage:

Stage 1: early signs

At first, the child will appear to develop and grow normally for at least 6 months. There may be subtle signs of Rett syndrome before the child is recognised as having a problem (especially with hindsight).

Stage 1 is sometimes described as "stagnation". Symptoms include:

low muscle tone (hypotonia)

difficulty feeding

unusual, repetitive hand movements or jerky limb movements

delay with development of speech

mobility problems, such as problems sitting, crawling and walking

lack of interest in toys

These symptoms typically begin from 6 to 18 months and often last for several months, although they can persist for a year or more. Stage 1 can often go unnoticed because the changes occur gradually and may be subtle.

Stage 2: regression

During stage 2, known as "regression" or the "rapid destructive stage", the child starts to lose some of their abilities. This stage usually begins between the ages of 1 and 4 and may last for any time from 2 months to more than 2 years. The child will gradually or suddenly start to develop severe problems with communication and language, memory, mobility, co-ordination and other brain functions. Some of the characteristics and behaviours are similar to those of autism.

Signs at this stage include:

loss of the ability to use the hands purposefully – repetitive hand movements are often difficult to control and include wringing, washing, clapping or tapping

periods of distress, irritability and sometimes screaming for no obvious reason

social withdrawal – a loss of interest in people and avoidance of eye contact

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unsteadiness and awkwardness when walking

problems sleeping

slowing of head growth

difficulty eating, chewing or swallowing, and sometimes constipation that may cause tummy aches Later on during regression, the child may experience periods of rapid breathing (hyperventilation) or slow breathing, including breath-holding. They may also swallow air which can lead to abdominal bloating.

Stage 3: plateau

Stage 3 of Rett syndrome can begin as early as 2 years or as late as 10 years. It often lasts for many years, with many children remaining in this stage for most of their lives. During stage 3, some of the stage 2 symptoms may get better – for example, there may be improvements in behaviour, with less irritability and crying. The child may become more interested in people and their surroundings, and there may be improvements in alertness, attention span and communication. Their walking may also improve (or they may learn to walk, if they could not before).

Other symptoms at this stage include:

seizures, which may become more common

irregular breathing patterns may get worse – for example, shallow breathing followed by rapid, deep breathing, or breath holding

Gaining and maintaining weight can also be difficult to achieve.

Stage 4: deterioration in movement

Stage 4 can last for years or even decades. The main symptoms at this stage are: development of a spinal curve (the spine bending to the left or right side), known as scoliosis

muscle weakness and spasticity (abnormal stiffness, particularly in the legs)

losing the ability to walk

Communication, language skills and brain function do not tend to get any worse during stage 4. The repetitive hand movements may decrease and eye gaze usually improves. Seizures also usually become less of a problem during teenage and early adult life, although they will often be a lifelong problem to manage.

nhs.uk - Rett syndrome - NHS

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