Five Things You Should Know About Rett Syndrome

Rett Syndrome is a severe, lifelong disorder, and those with it will rely totally on others for support throughout their lives.

Rett Syndrome is a rare condition that affects the development of the brain, causing physical and mental disability which begins in early childhood. After a short period of normal development, symptoms begin during the first six to eighteen months of life, and include a stagnation in development, along with floppiness, difficulty feeding, lack of interest in toys, and poor coordination.

Rett Syndrome is a severe, lifelong disorder, and those with the condition will rely totally on others for support throughout their lives. In order to raise awareness of the condition, and to dispel some myths, we’ve put together five things you should know about the condition.

1- Rett Syndrome develops in four stages.

Stage one (early signs and slow development) typically involves the display of the symptoms mentioned above. During stage two (known as ‘regression’, or the ‘rapid destructive stage’), which typically begins between one and four years old, those with the condition will begin to lose some of their abilities and develop severe problems with communication, language, learning and co-ordination.

Stage three, which is known as the ‘plateau’ stage, involves the emergence from the regression stage and usually occurs between the age of two and ten, and can last for years.

During this stage many children with Rett Syndrome will develop seizures and irregular breathing patterns, but there may also be an improvement in earlier problems caused by the condition.Stage four can also last for years or even decades, and is characterised by a deterioration in movement.

For more information on each of the stages of Rett Syndrome please see NHS Choices.

2 - Although Rett Syndrome is a genetic disorder, less than one percent of Rett Syndrome is inherited.

This is because Rett Syndrome is usually caused by a spontaneous genetic mutation. When a genetic mutation occurs, it means that there has been a change in a gene in a cell’s DNA. In the case of Rett Syndrome, the specific gene affected is the MECP2 gene, which is responsible for producing a particular protein essential for brain development.

This sporadic occurrence of the genetic mutation means that almost all cases of Rett Sydrome occur without their being any family history of the condition.

3. -Rett Syndrome is mainly seen in girls.

Again this is down to the fact that it’s caused by a genetic mutation. Whereas girls have two X chromosomes, boys usually have one X and one Y chromosome.The mutation that causes Rett Sydrome occurs on the X chromosome, and when this happens that chromosome is unable to produce proteins vital for brain development. This means that in girls with Rett Syndrome, while one gene has a mutation, the other is normal, allowing for some of these proteins to be produced.

Unlike girls, boys who develop this mutation in their X chromosome don’t have an extra X chromosome to produce these proteins. Boys who carry the mutated gene on their only X chromosome will most often develop a condition known as infantile encephalopathy, which is often fatal at a very young age.

4 -Rett Syndrome can vary in severity from person to person

This is because in any cell, only one X chromosome is fully functional (or ‘active’). This means that in women affected by Rett Syndrome, in some of their cells the normal X gene is active, while in others the mutated gene is the active one.

The severity of the condition depends on the percentage of cells with the normal X gene. The lower the percentage, the more severe the condition will be, with symptoms occurring earlier on in life.

5 -Communication is Possible

Although most people with Rett Syndrome are unable to speak, there’s a lot that a Speech and Language Therapist can do to support the communication skills of a person with Rett Syndrome. This will allow them to express and understand messages by any possible means to convey thoughts, feelings, and information.

Whilst people with Rett Syndrome are mostly unable to manipulate their surroundings in order to convey a message, they often exhibit other, less obvious but equally distinctive methods of expressing themselves (movements and sounds produced by the person, including gestures, facial expressions, body language and proximity). This is known as Augmented and Alternative Communication (AAC), and it can be developed and improved.

London Speech Therapy

If your child has Rett Syndrome it is important to get help from a professional in order to address their communication needs. By providing simple opportunities for your child to communicate in their own environment, a Speech and Language Therapist can help you to become more aware of and to recognise the communication skills being used by your child in order for them to be enhanced and used to their maximum benefit.

Please get in touch using the contact form below and we’ll get back to you as soon as possible.

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