What is Rett syndrome?
Rett syndrome is a genetic disorder that causes intellectual and physical disability. Children are affected by Rett syndrome in different ways. For example, it appears at different ages in different children, and the severity of the symptoms varies.
In most cases, Rett syndrome happens when there is a change on the X chromosome on a gene called MECP2. Most cases happen by chance. In less than 1% of people with Rett syndrome, the condition is inherited.
Rett syndrome is a rare condition. It almost exclusively affects girls. Approximately 1 in 10 000 girls are affected.
There is a separate condition called ‘Rett syndrome in males’. It’s also caused by mutations to the MECP2 gene. It’s a severe condition that can cause death early in life.
The syndrome was first described by Dr Andreas Rett in 1966, but didn’t become generally recognised until about 1986.
Signs and symptoms of Rett syndrome
For a child to be diagnosed with Rett syndrome, doctors need to see the following signs and symptoms:
- normal early development until about six months, although there can be developmental delay from birth
- slowed head growth
- loss of purposeful hand skills, followed by repetitive hand movements like clapping, tapping, washing and rubbing
- severe problems with speech
- unsteady walk
- shaky upper body
- social withdrawal and loss of interest in people.
Four stages of Rett syndrome
The signs and symptoms of Rett syndrome are divided into four general stages. The timing of these stages is often different for each child with the syndrome. The stages aren’t fixed, and some symptoms can appear at different times depending on the child.
Stage 1: early signs and slow development
Symptoms first start to appear at 6-18 months. The earliest signs are slowed growth and development, which are easy to miss at first.
These early symptoms might include:
- hand-wringing, or jerky, clasping hand movements
- problems with crawling or walking
- less eye contact and interest in people
- feeding problems.
Stage 2: regression phase
The second stage of symptoms can appear gradually or suddenly. It includes severe problems with communication, coordination and other brain functions.
Children usually start showing these more severe symptoms around 1-4 years. This can vary a lot, and children might not show symptoms until they’re a bit older.
These symptoms can include:
- loss of the ability to use hands purposefully, followed by repetitive hand movements like clapping, tapping, washing and rubbing
- loss of speech skills
- breath-holding and rapid or slow breathing
- inconsolable crying
- loss of interest in people and social interaction
- unsteady body and walking
- slowed head growth
- tummy aches, bloating and constipation.
Stage 3: plateau stage
This stage typically starts around 2-10 years and can last for several years. In this stage, the symptoms from stage 2 continue, but usually don’t get any worse.
Other signs of this stage include:
- difficulty moving around
- floppy limbs
During this stage, there can also be improvements. The child might:
- show more interest in surroundings
- have better attention, alertness and communication skills
- be less irritable and cry less.
Stage 4: deterioration in movement
This stage is marked by reduced movement, muscle weakness and joint stiffness. Most typically it starts at 10 years and older. Other signs of this stage are:
- reduced mobility
- curved spine (scoliosis)
- stiff legs and possible loss of walking ability
- possible decrease in repetitive hand movements
- improvement in eye gaze.
Health complications and concerns linked with Rett syndrome
Rett syndrome is also associated with other health conditions and complications later in life, including:
- gastro-oesophageal reflux disease (GORD)
- sleep disturbances
- inflammation of the gall bladder.
Diagnosis and testing for Rett syndrome
Rett syndrome is diagnosed by looking at a child’s physical signs and symptoms. The child can also have a blood test to look for the genetic abnormality.
Genetic testing confirms about 80% of cases. But changes in the MECP2 gene aren’t found in every child with the syndrome.
The signs and symptoms develop over time, which means that Rett syndrome can be hard to diagnose. It can also be misdiagnosised as Prader-Willi syndrome, Angelman syndrome, autism spectrum disorder or cerebral palsy in the early stages.
Early intervention services for children with Rett syndrome
Although there’s no cure for Rett syndrome, early intervention can make a difference. Through early intervention services, you can work with health professionals to treat your child’s symptoms, support your child, improve outcomes for your child and help her reach her full potential.
The team of professionals involved in supporting you and your child will include paediatricians, who will prescribe medication for seizures if your child has them, and also care for your child’s overall health and development. The team might also include physiotherapists, occupational therapists and speech pathologists.
Together, you and your team can choose treatment and therapy options to best help your child.
Services and support for children with Rett syndrome
Learning as much as possible from your health specialists will help. It’s OK to ask lots of questions.
Many services and supports can help your child with Rett syndrome achieve her potential. But finding your way through the disability services system can be tricky. Our Disability Services Pathfinder can help.
If you live in a National Disability Insurance Scheme (NDIS) trial area and your child has a confirmed diagnosis of Rett syndrome, your child can get support under the NDIS. The NDIS helps you get services and support in your community, and gives you funding for things like early intervention therapies or one-off items like wheelchairs.
If you don’t live in one of the NDIS trial areas, your child can get funding under the Better Start for Children with Disability initiative. If your child is eligible for the NDIS, she’ll be moved over when it becomes available in your area. Read our NDIS and Better Start FAQs for more information.
Looking after yourself
If your child has Rett syndrome, it’s natural to focus on looking after her. But it’s important to look after your own wellbeing too. If you’re physically and mentally well, you’ll be better able to care for your child.
If you need support, a good place to start is with your GP and genetic counsellor. You can also get support from organisations like Genetic Alliance Australia.
Looking after siblings
Siblings of children with disability have good times and not so good times, just like everyone else. It’s important to find the right support for them too.