Rett Syndrome

Rett Syndrome

Rett Syndrome is a rare genetic neurological condition that affects brain development and most commonly occurs in girls, although boys can also be affected. Children with Rett Syndrome often appear to develop typically during their first few months of life before gradually losing some previously learned skills, such as purposeful hand use, communication and movement.

At Positive Steps, we support children with Rett Syndrome through personalised physiotherapy that focuses on helping them move with greater comfort, confidence and independence while maximising their potential.

What is Rett Syndrome?

Rett Syndrome is caused by a mutation in the MECP2 gene on the X chromosome, which affects how the brain develops and communicates with the body. Around 99% of cases happen spontaneously, meaning they are not inherited from parents.

The condition affects approximately 1 in 10,000 girls and is much less common in boys.

As the brain's communication pathways are affected, children may experience challenges with movement, muscle tone, coordination, communication, breathing patterns and learning.

How Does Rett Syndrome Progress?

Rett Syndrome typically develops through four stages, although every child is different and symptoms can overlap.

• Stage 1 (6–18 months): Development begins to slow, with subtle changes such as reduced interest in toys, low muscle tone or delayed milestones.

• Stage 2 (1–4 years): Children may lose previously learned skills, particularly hand use and communication, while repetitive hand movements become more noticeable.

• Stage 3 (2–10 years and beyond): Many children enter a longer period of stability, where attention, communication or walking may improve.

• Stage 4: Movement difficulties gradually increase, with muscle stiffness, weakness and reduced mobility becoming more common.

While Rett Syndrome is progressive, the rate and extent of change varies for every individual.

Common Symptoms of Rett Syndrome

Children with Rett Syndrome may experience a combination of symptoms that change over time, including:

• Repetitive hand movements such as wringing, clapping or tapping

• Delayed speech, communication and motor milestones

• Difficulty sitting, standing or walking steadily

• Low muscle tone (hypotonia) in early stages

• Muscle stiffness (spasticity) as they get older

• Balance and coordination difficulties

• Breathing irregularities

• Seizures

• Constipation and other gastrointestinal difficulties

• Fatigue during everyday activities

• Anxiety, irritability or changes in engagement with their surroundings

Every child experiences Rett Syndrome differently, so treatment is always tailored to their individual needs.

How Can Physiotherapy Help?

Physiotherapy plays an important role throughout every stage of Rett Syndrome. The goal is not to stop the condition progressing, but to help children maintain their physical abilities, improve comfort and support participation in everyday life.

At Positive Steps, our physiotherapy is always fun, play-based and personalised.

We may work on:

• Building strength and balance through play

• Improving sitting, standing and walking skills where appropriate

• Purposeful movement practice

• Positioning and postural support

• Stretching to help manage muscle tightness

• Supporting mobility and coordination

• Helping reduce the risk of complications such as joint stiffness and contractures

We also provide practical guidance and education so families feel confident supporting their child's development at home.

Our Approach at Positive Steps

We understand that every child with Rett Syndrome has their own strengths, challenges and goals.

Our team works closely with families to create a physiotherapy programme that fits around everyday life, helping children build confidence, maintain movement and participate in the activities that matter most to them.

We focus on finding new ways to help every child succeed to their fullest potential.

When to Seek Support

If your child has Rett Syndrome or you have concerns about their movement, balance, posture or mobility, early physiotherapy can help identify the right strategies to support them as they grow and develop.