Rett syndrome: symptoms, stages, causes and care

The NHS describes Rett syndrome as a rare genetic disorder that affects brain development and results in severe mental and physical disability. It is estimated to affect around 1 in 10,000 girls born each year and is only rarely seen in boys.

Some children are affected more severely than others, and the age at which symptoms first appear varies from child to child. A child may not have all the symptoms, and their symptoms might change as they get older, the NHS says.

The NHS describes four stages, although symptoms often overlap between stages. In the first stage the child appears to develop and grow normally for at least 6 months, with subtle signs that are often only recognised with hindsight. Stage 2 usually begins between 1 and 4 years of age and may last from 2 months to more than 2 years. The NHS says some of the characteristics and behaviours are similar to those of autism.

Later in regression the child may have periods of rapid or slow breathing, including breath-holding, and may swallow air, leading to abdominal bloating. In stage 4, the NHS says communication, language skills and brain function do not tend to get any worse, the repetitive hand movements may decrease and eye gaze usually improves, and seizures usually become less of a problem during teenage and early adult life although they are often a lifelong problem to manage.

The NHS says almost all cases are caused by a mutation (a change in the DNA) in the MECP2 gene, which is found on the X chromosome. The gene contains instructions for producing a protein, MeCP2, which is needed for brain development, and the gene abnormality prevents nerve cells in the brain from working properly.

There is usually no family history, so it is not passed on from one generation to the next. Almost all cases (over 99%) are spontaneous, with the mutation occurring randomly. The NHS genetic testing page says a genetic counsellor can help you understand how family members may be affected and the risk of passing a condition on to children.

The NHS says it is usually diagnosed based on your child's symptoms and by ruling out other more common disorders. A diagnosis may not be made straight away because the syndrome is so rare and symptoms do not tend to appear until a child is between 6 and 18 months old.

A genetic blood test can be used to identify whether the genetic mutation is responsible. If a change is found in the MECP2 gene, it can help confirm the diagnosis, but failing to find it does not necessarily rule out the syndrome. The NHS says genetic testing on the NHS generally needs a referral from a doctor, and a genetic counsellor can explain what results mean for you and your family.

There is no cure, so the NHS says treatment focuses on managing symptoms, and that parents will likely need help and support from a wide range of healthcare professionals. The list below sets out the treatments and aids the NHS describes.

The NHS also says that therapeutic horse riding, swimming, hydrotherapy and music therapy have been reported to be beneficial, and to ask your healthcare team where to access them.

• Speech and language therapy, picture boards, eye gaze technology and other visual aids, and ways to help communication such as Signalong, Makaton or PECS.

• Medicine for breathing and mobility problems, and anti-epileptic medicine to control seizures.

• Physiotherapy, attention to mobility and sitting posture to minimise the chance of scoliosis, with frequent changes in posture.

• A back brace and sometimes spinal surgery if scoliosis becomes established.

• A high-calorie, low-carbohydrate (ketogenic) diet to help maintain weight and help control seizures, with a feeding tube and other feeding aids if necessary.

• Occupational therapy to develop skills for dressing, feeding and other daily activities.

• An ankle-foot orthosis (lower leg brace) to help walking independently, and a hand splint used mainly for limited periods to prevent self-injury or encourage use of the other hand.

The NHS says scoliosis is more likely from the age of 6 and that the risk reduces after puberty. The NHS scoliosis page explains that treatment depends on age, how severe the curve is and whether it is likely to get worse, and that older children may wear a back brace to stop the curve getting worse until they stop growing, with surgery sometimes needed.

Seizures can occur from the plateau stage onwards and the NHS says they often become less of a problem in the teenage and early adult years. From the age of 14, people with Rett syndrome should have checks with their GP at least once a year, the NHS says.

The NHS says that although some people with Rett syndrome may retain a degree of hand control, walking ability and communication skills, most will be dependent on 24-hour care throughout their lives. Many reach adulthood and those who are less severely affected can live into old age. However, some people die at a fairly young age as a result of complications such as heart rhythm abnormalities, pneumonia and epilepsy.

The NHS says caring for a child with Rett syndrome is mentally and physically challenging, and that most carers will need social and psychological support. The NHS social care and support guide includes advice on getting a break from caring and benefits for carers.

The NHS names Rett UK as a charity that provides help and support for people living with Rett syndrome, including a helpline and email support. Ask your child's paediatric team about local short breaks, equipment services and social care assessments, which are available through the NHS and local authorities.

On the NHS, concerns about development usually start with a GP, health visitor or paediatrician, with referral on to a paediatric neurology or genetics service for testing. Ongoing care is coordinated between therapists, doctors and carers.

Some families choose to see private specialists or therapists alongside NHS care. If you do, ask for reports to be shared with your NHS team so that therapy, equipment and monitoring plans stay joined up.