Five Things You Should Know About Rett Syndrome
Rett syndrome is a rare genetic condition that affects how the brain develops. It changes movement, coordination and communication, and most people with Rett syndrome need support throughout their lives.
After a period of typical early development, signs usually appear between six and eighteen months: development slows or stalls, and parents often notice low muscle tone, difficulty feeding, reduced interest in toys, and poor coordination.
It is a condition surrounded by a lot of misunderstanding, so here are five things worth knowing, including the one that matters most to us as therapists: communication is possible.
1. Rett syndrome develops in four stages
Stage one, early signs and slowed development, typically involves the signs described above.
Stage two, known as regression, usually begins between one and four years old. During this stage a child loses some of the abilities they had, and develops significant difficulties with communication, language, learning and coordination.
Stage three, the plateau stage, follows the regression and usually occurs between two and ten years old. It can last for years. Many children develop seizures and irregular breathing patterns during this stage, though some of the earlier difficulties may also improve.
Stage four can last for years or decades, and is characterised by changes in movement.
The NHS website has more detail on each stage.
2. Although Rett syndrome is genetic, it is very rarely inherited
Fewer than one percent of cases are passed down. Rett syndrome is almost always caused by a spontaneous genetic mutation, meaning a change occurs in a gene within a cell’s DNA. The gene involved is MECP2, which produces a protein essential for brain development.
Because the mutation happens spontaneously, almost all cases occur with no family history of the condition at all. If you are a parent who has been told your child has Rett syndrome, this is not something you passed on.
3. Rett syndrome is mainly seen in girls
This also comes down to genetics. Girls have two X chromosomes; boys usually have one X and one Y. The mutation that causes Rett syndrome occurs on the X chromosome, and the affected chromosome cannot produce the proteins needed for brain development.
In girls, one X chromosome carries the mutation while the other does not, so some of these proteins are still produced. Boys who develop the same mutation have no second X chromosome to compensate, and most often develop a condition called infantile encephalopathy, which is usually life-limiting in very early childhood.
4. It varies considerably from person to person
In any given cell, only one X chromosome is fully active. In girls and women with Rett syndrome, some cells have the unaffected X gene active and others have the mutated one.
How the condition presents depends on the proportion of cells where the unaffected gene is active. A lower proportion generally means greater support needs, and signs appearing earlier in life. Two children with the same diagnosis can look quite different from one another.
5. Communication is possible
This is the one we most want people to take away.
Most people with Rett syndrome do not use speech, and that is not the same as having nothing to say. A Speech and Language Therapist can do a great deal to support communication, so that a person can express and understand messages by whatever means work for them.
People with Rett syndrome often cannot manipulate their environment to get a message across, but they do communicate, through movement, sound, gesture, facial expression, body language, eye gaze and proximity. These signals are easy to miss if you are not looking for them, and they can be built on. That is the basis of Augmentative and Alternative Communication (AAC), and it is one of the most rewarding areas of our work.
Getting support
If your child has Rett syndrome, working with a Speech and Language Therapist helps in two directions. We support your child’s communication, and we help you recognise and respond to the communication skills your child is already using, so those signals get stronger rather than being missed.
Speak to your GP, who can refer you to your local NHS service, or contact us to be seen privately: email enquiries@londonspeechtherapy.co.uk or call 020 3475 2189.
You can read more about how we work with children on our speech and language therapy for children page. If AAC is new to you, our guide to core boards is a practical place to start.
