Clear, supportive information
About Rett syndrome
What is Rett syndrome?
Rett syndrome is a rare genetic neurological and developmental condition that affects how the brain and nervous system develop and function. It mainly affects girls, although boys and men can also be affected in rare cases.
Children with Rett syndrome often appear to develop as expected during their first months of life. Their development may then slow, stop or change, and they may lose skills they had previously gained. The way Rett syndrome affects each person can vary considerably.
Most cases are caused by a change in a gene called MECP2, located on the X chromosome. This genetic change usually happens spontaneously and is not caused by anything a parent did or did not do.
Common signs and symptoms
Every person with Rett syndrome is unique. Possible signs and symptoms include:
- Loss or reduction of purposeful hand movements
- Repetitive hand movements, such as wringing, squeezing, tapping or clapping
- Difficulty speaking or loss of spoken language
- Problems with balance, coordination, walking and mobility
- Slower growth, including slower head growth
- Irregular breathing patterns while awake
- Epilepsy or seizures
- Sleep difficulties
- Problems with eating, drinking, swallowing or digestion
- Reflux and constipation
- Scoliosis and other orthopaedic difficulties
- Muscle stiffness, weakness or involuntary movements
- Anxiety, agitation or periods of distress
- Irregular heart rhythms in some people
Not everyone will experience every symptom, and severity can differ significantly.
Communication and understanding
Difficulty speaking does not mean that a person has nothing to say.
Many people with Rett syndrome communicate through eye movements, facial expressions, body language, sounds, gestures and assisted communication technology. Eye-gaze devices and other forms of augmentative and alternative communication (AAC) can help provide choices, encourage participation and give people a more reliable way to express themselves.
It is important to presume competence, allow enough time for a response and include the person in conversations and decisions that affect them.
How is Rett syndrome diagnosed?
Diagnosis is based on a person’s development, medical history and clinical signs. Genetic testing can identify a change in the MECP2 gene in most people with typical Rett syndrome.
A genetic result should be considered alongside clinical assessment. Healthcare professionals may recommend additional tests to investigate symptoms, monitor health and rule out other conditions.
Anyone concerned about a child’s development should speak to their GP, paediatrician or another qualified healthcare professional.
Treatment and ongoing support
There is currently no universal cure for Rett syndrome, but treatment and support can help manage symptoms, maintain abilities and improve quality of life.
Care is tailored to the individual and may involve paediatrics, neurology, genetics, physiotherapy, occupational therapy, speech and language therapy, AAC, nutrition, orthopaedics, and heart, breathing or epilepsy monitoring. Regular health reviews are important because needs may change over time.
Living with Rett syndrome
People with Rett syndrome can enjoy relationships, learning, music, activities and meaningful involvement in family and community life. With appropriate communication, healthcare, education and practical support, they can express preferences, develop skills and participate in the world around them.
Families and caregivers may also need understanding, respite and emotional support. Connecting with other people who have similar experiences can be reassuring and help families feel less alone.
You are not alone
Rett Syndrome Support is a welcoming community for parents, caregivers, family members and everyone affected by Rett syndrome. The forum is a place to ask questions, share experiences, find practical suggestions and connect with people who understand.