About Rett syndrome
Rett syndrome is a genetic condition that causes intellectual disability and physical disability.
Rett syndrome usually happens when there’s a change on the X chromosome on a gene called MECP2. This change usually happens by chance. Rett syndrome is rarely inherited.
Rett syndrome is a rare condition. Almost all children and teenagers with Rett syndrome are female.
The syndrome was first described by Dr Andreas Rett in 1966, but it didn’t become generally recognised until 1983.
Signs and symptoms of Rett syndrome
Children with Rett syndrome usually develop typically for 6-18 months and then gradually lose skills and abilities.
The signs and symptoms of Rett syndrome vary, and some children and teenagers are more affected than others. But children and teenagers with Rett syndrome typically have:
- severe problems with speech and communication
- problems with motor skills like walking, crawling and using their hands
- intellectual disability
- developmental delay
- behavioural challenges.
Children and teenagers with Rett syndrome also have characteristic hand movements, like clasping, wringing, clapping and mouthing their hands.
Four stages of Rett syndrome
The signs and symptoms of Rett syndrome generally appear in 4 stages. The timing of these stages often varies among children with the syndrome. The stages aren’t fixed, and some signs and symptoms can appear at different times.
Stage 1: early signs and slow development
Signs first start to appear at 6-18 months. The earliest signs are slowed growth and development. These signs are easy to miss at first.
These early signs 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
This stage typically starts at 1-4 years. In this stage, children start showing a loss of skills and abilities. These signs can appear gradually or suddenly, and their severity can vary.
These signs include:
- loss of the ability to use hands purposefully
- repetitive hand movements like clapping, tapping, washing and rubbing
- loss of speech skills
- breath-holding and rapid or slow breathing
- inconsolable crying
- screaming for no obvious reason
- loss of interest in people and social interaction
- unsteady body and walking
- slowed head growth
- stomach aches, bloating or constipation.
Stage 3: plateau stage
This stage typically starts at 2-10 years and can last for several years. In this stage, children might still have symptoms from stage 2, but these usually don’t get any worse.
Signs of this stage include:
- difficulty moving around
- floppy limbs
- teeth-grinding
- seizures.
During this stage, there can also be improvements. Children might:
- show more interest in their surroundings
- be more alert and able to pay attention
- have better communication skills
- be less irritable and cry less.
Stage 4: deterioration in movement
This stage typically starts at 10 years and older. Its main signs are reduced movement, muscle weakness and joint stiffness.
Other signs include:
- greatly reduced mobility
- scoliosis
- stiff legs
- possible loss of the ability to walk
- fewer 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. These include:
- gastro-oesophageal reflux disease (GORD)
- breathing problems
- epilepsy
- sleep problems
- heart problems
- anxiety
- fractures
- urinary tract infections.
Diagnosis and testing for Rett syndrome
Rett syndrome is diagnosed by looking at a child’s development and their physical signs and symptoms. Genetic testing can confirm the diagnosis by identifying changes in the MECP2 gene.
The signs and symptoms develop over time, which means that Rett syndrome can be hard to diagnose. In the early stages, it can be misdiagnosed as Prader-Willi syndrome, Angelman syndrome, autism or cerebral palsy.
Early intervention services for children with Rett syndrome
If your child has Rett syndrome, early intervention is the best way to support your child’s development. Early intervention includes therapies, education and other supports that will help your child reach their full potential.
Early intervention should also include helping you learn how to spend time with your child in ways that support their development. Children learn the most from the people who care for them and with whom they spend most of their time, so everyday play and communication with you can help your child a lot.
You and your child will probably work with many health and other professionals as part of your child’s early intervention. These professionals include paediatricians, who’ll prescribe medication for seizures if your child has them. Paediatricians will also care for your child’s overall health and development. Other professionals might include occupational therapists, physiotherapists and speech pathologists.
Working in partnership with your child’s professionals is very important. When you combine your deep knowledge of your child with the professionals’ expertise, you’re more likely to get the best outcomes for your child.
Financial support for children and teenagers with Rett syndrome
If your child has a confirmed diagnosis of Rett syndrome, you might be able to get support from the National Disability Insurance Scheme (NDIS). The NDIS can help you get services and support in your community. The NDIS might also fund things like early intervention therapies or one-off items like wheelchairs.
Looking after yourself and your family
It’s important to look after yourself physically, mentally and emotionally. If you take care of yourself, you’ll be better able to care for your child.
If you need support, you could start by talking with your GP or a genetic counsellor. You can also get support from organisations like Rett Syndrome Association of Australia (RSAA), Genetic Alliance Australia and Genetic Support Network of Victoria.
Talking to other parents can be an important way to get support too. You can connect with other parents in similar situations by joining a face-to-face or an online support group through RSAA.
If you have other children, they might have a range of feelings about having a sibling with disability. They need to feel that they’re just as important to you as your child with disability – that you care about them and what they’re going through. It’s important to talk with your other children, spend time with them, and find the right sibling support for them.