What is Rett syndrome?
Rett syndrome is a rare genetic disorder that affects brain development.
It is often linked with profound and multiple learning disabilities, also called PMLD.
What causes Rett syndrome?
Rett syndrome is mostly caused by changes in a child’s DNA which stops nerve cells working properly. It usually isn’t passed on from parents to children.
How does Rett syndrome affect someone?
Symptoms usually start from 6 to 18 months. Some of these symptoms may improve as a child gets older. Others can stay with them for their whole lives.
Symptoms include:
- repetitive and hard-to-control hand movements like wringing, clapping or tapping
- distress, irritability and screaming for no reason
- losing interest in people and avoiding eye contact
- seizures
- irregular breathing – for example, shallow breathing followed by quick, deep breathing, or holding their breath
- problems gaining or keeping weight
- the child’s spine bending (scoliosis). This is more likely after age 6 – the risk falls after puberty
- muscle weakness and unusual stiffness, particularly in the legs
- being unable to walk.
How is Rett syndrome diagnosed?
Rett syndrome is usually diagnosed on a child's symptoms. Doctors use a genetic blood test to find out if Rett syndrome is caused by a genetic mutation.
From 14, everyone with Rett syndrome should check in with their GP at least once a year.
What is PMLD?
PMLD stand for profound and multiple learning disabilities. People with profound and multiple learning disabilities will have great difficulty communicating. Many people will have additional sensory or physical disabilities, complex health needs or mental health difficulties.
Living with Rett syndrome
Many children with Rett syndrome grow up to be adults.
People who are less severely affected can live into old age. However, some will die younger because of heart problems, epilepsy and pneumonia.
Where to go for help and support about Rett syndrome
Caring for a child with Rett syndrome can be demanding and most carers will need support.
A child with Rett syndrome can benefit from:
- speech and language therapy
- learning other ways to communicate like Makaton or PECS
- medicine for breathing and movement, plus anti-epileptic medicine to control seizures.
Rett UK provide help and support for people living with Rett syndrome. You can contact them on 01582 798911 or by email to support@rettuk.org
Information about Rett syndrome
Symptoms usually start from 6 to 18 months. Some of these symptoms may improve as a child gets older. Others can stay with them for their whole lives.
Symptoms include:
- repetitive and hard-to-control hand movements like wringing, clapping or tapping
- distress, irritability and screaming for no reason
- losing interest in people and avoiding eye contact
- seizures
- irregular breathing – for example, shallow breathing followed by quick, deep breathing, or holding their breath
- problems gaining or keeping weight
- the child’s spine bending (scoliosis). This is more likely after age 6 – the risk falls after puberty
- muscle weakness and unusual stiffness, particularly in the legs
- being unable to walk.
No. Rett syndrome is a rare genetic disorder that affects brain development.
There's no cure for Rett syndrome, so treatment is about managing symptoms.
Many children with Rett syndrome grow up to be adults.
People who are less severely affected can live into old age. However, some will die younger because of heart problems, epilepsy and pneumonia.
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