Rett syndrome is a rare disorder that's unfamiliar to a lot of people. It's mostly seen in girls, and only rarely in boys.

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Rett syndrome is first recognized in infancy. As a matter of fact, it's often misdiagnosed as autism, cerebral palsy, or non-specific developmental delay.


How does it occur?

Rett syndrome (and variations of it) occurs based on a specific gene mutation, and it's usually not inherited. The exact cause of Rett syndrome is unknown, but it's believed to be connected to problems with protein production that's vital for brain development.

This causes problems in brain functions, such as the cognitive, sensory, emotional, motor and autonomic functions.

According to the Mayo Clinic, children with Rett syndrome seemingly develop normally, but around the age of 6 months, signs and symptoms start to appear. Pronounced changes generally occur around the age of 12–18 months.

Some of the signs and symptoms are:

  • slow brain growth
  • loss of normal movement and coordination
  • loss of communication abilities
  • abnormal hand movements, like repetitive purposeless movements
  • unusual eye movements, like intense staring and blinking
  • breathing problems, such as hyperventilation
  • agitation and irritability as they get older
  • seizures
  • scoliosis

Living and treatment

People born with Rett syndrome can experience, among other complications, sleep problems, difficulty with eating, severe constipation, and muscle and joint problems.

The severity of the disability can vary from mild to severe, and depends on the mutation itself. As a matter of fact, two girls with similar mutations can have two very different outlooks. Still, regardless of the severity of the disability, people with Rett syndrome will usually be dependent on some kind of care and assistance throughout their lifetime.

According to Frambu, a Norwegian centre of competence focusing on rare diseases, children in the early stages should focus on self-initiated movement and activities where they can work on their balance and interaction with others. The centre further recommends, among other things, that children undergo treatment focusing on increasing muscle strength, the ability to walk, and improving posture.

What each individual child should focus on will depend on their situation and needs, but the key seems to be focusing on movement and reducing sedentary behaviour in order to avoid further delays in motor skills development.


What can you do?

As there is no exact cause found for Rett syndrome, there is no known way to prevent it.

However, children with Rett syndrome will benefit from getting lifelong help and support from experts in areas such as motor function, communication skills, nutrition and social interaction. It's important that the child and family are followed up on a regular basis, with the same consistent staff that can help over long periods of time.

The goal of the follow up from professionals is to treat some of the symptoms and prevent complications when the child is growing up.

It’s also normal to introduce assistive equipment to increase activity levels and independency. Facilitating and enabling movement with assistive devices, not only in treatments but also in everyday life, can reduce sedentary behaviour drastically and increase the quality of life.

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Rikke Damkjær Moen - Physiotherapist and Medical Manager

Rikke Damkjær Moen - Physiotherapist and Medical Manager

Rikke Damkjær Moen brings many years of experience as clinical physiotherapist to the Made for Movement team. Her mission is to ensure that everybody, regardless of mobility problems, should be able to experience the joy and health benefits of physical activity. As our Medical Manager, Rikke is passionate about sharing knowledge so that individuals with special needs, families, and clinicians can discover the possibilities and solutions provided by Made for Movement.