Rett Syndrome

Rett syndrome is a rare genetic condition that mainly affects girls. It leads to serious developmental problems over time, particularly in speech and movement.

What is Rett syndrome?

Rett syndrome is a condition caused by changes in genes, particularly affecting how the brain develops. It usually becomes noticeable in early childhood, and children may start to lose skills they had previously learned.

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What are the symptoms of Rett syndrome?

Symptoms of Rett syndrome can vary, but common signs include:

  • Loss of purposeful hand skills, often replaced by repetitive hand movements
  • Difficulty in walking or loss of ability to walk
  • Problems with communication and social interaction
  • Seizures in some children
  • Problems with coordination and balance
  • Unusual breathing patterns

What causes Rett syndrome?

Rett syndrome is usually caused by changes in a gene called MECP2. This change affects how the brain grows and works. Most often, these changes happen by chance and are not inherited from parents.

How common is Rett syndrome?

Rett syndrome is rare, affecting about 1 in 10,000 to 15,000 girls born. It is much less common in boys, and many boys who have it usually do not survive past early childhood.

Who is more likely to get Rett syndrome?

Rett syndrome mainly affects girls, and it is very rare in boys. It is often diagnosed between 6 months and 2 years of age when girls start to show signs of losing skills.

How can I treat Rett syndrome?

There is no cure for Rett syndrome, but treatment focuses on helping with the symptoms. Options can include:

  • Therapies to improve communication skills
  • Physical therapy to help with movement
  • Medication to control seizures or behaviour
  • Support for families and caregivers

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How to live with Rett syndrome?

Living with Rett syndrome means that ongoing support is important. Children and families may benefit from therapy, education services, and community support to help with challenges in everyday life.

What support is available for people with Rett syndrome?

Many organisations and support groups offer help for families affected by Rett syndrome. These can provide resources, connect families with each other, and offer emotional support.

What’s the outlook for Rett syndrome?

Rett syndrome is a lifelong condition, and it can significantly affect a person’s quality of life. However, many children and adults find ways to communicate and enjoy activities with support from family and caregivers.

Final thoughts

Rett syndrome is a complex condition that affects many aspects of life. If you have concerns about Rett syndrome, it is important to talk to a GP or healthcare provider for advice and support.

Sources

Always consult a medical professional
This article is for informational purposes only and is not a substitute for medical advice. Always consult a healthcare professional before starting, stopping or changing any medication. If you have concerns about your medication or experience side effects, speak to your doctor or pharmacist immediately.

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