What is Rett syndrome?
Rett syndrome usually happens when there’s a change on the X chromosome on a gene called MECP2. Most cases happen by chance. Rett syndrome is rarely inherited.
Rett syndrome is a severe condition that usually leads to a shorter life span.
Rett syndrome is a rare condition. It almost exclusively affects girls. Approximately 1 in 10 000 girls are affected.
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
For a child to be diagnosed with Rett syndrome, doctors usually need to see the following signs and symptoms:
- typical development for the first 6-18 months of age, followed by a loss of skills - for example, crawling, walking, communicating and use of hands
- repetitive hand movements like clapping, tapping, washing, wringing, clasping 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 generally appear in 4 stages. The timing of these stages often varies among children with the syndrome. The stages aren’t fixed, and some symptoms can appear at different times.
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
This stage typically starts at 1-4 years. In this stage, children start showing a loss of skills and abilities. These symptoms can appear gradually or suddenly, and their severity can vary.
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
- screaming for no obvious reason
- loss of interest in people and social interaction
- unsteady body and walking
- slowed head growth
- tummy aches, bloating and/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 the symptoms from stage 2, but these symptoms 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. Children 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. It typically starts at 10 years and older. Other signs of this stage are:
- greatly reduced mobility
- 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)
- breathing problems
- sleep problems
- 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
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 will 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 physiotherapists, occupational therapists and speech pathologists.
It’s good to see yourself as working in partnership with your child’s professionals. 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 with Rett syndrome
If your child has a confirmed diagnosis of Rett syndrome, your child can get support under the National Disability Insurance Scheme (NDIS). The NDIS helps you get services and support in your community. It also gives you funding for things like early intervention therapies or one-off items like wheelchairs.
Looking after yourself and your family
Although it’s easy to get caught up in looking after your child with Rett syndrome, it’s important to look after your own wellbeing too. 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 the Rett Syndrome Association of Australia, 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.
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.