Angelman Syndrome

Angelman syndrome is a genetic condition that affects the brain and nervous system. It often leads to delayed development, limited speech, movement difficulties, and a generally happy demeanor with frequent smiling and laughter.

What is Angelman syndrome?

Angelman syndrome is a rare genetic condition that affects the way a person develops. It mainly affects their ability to communicate, learn, and move.

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What are the symptoms of Angelman syndrome?

People with Angelman syndrome often show a variety of symptoms, including:

  • Delayed development, especially in speaking and learning
  • Difficulty walking or balancing
  • Frequent laughter or smiling, often at inappropriate times
  • Seizures
  • Sleeping problems
  • Unique facial features, such as a wide mouth and prominent chin

What causes Angelman syndrome?

Angelman syndrome is caused by changes in a specific gene called UBE3A. In most cases, the gene is missing or not working properly, which affects the way the brain develops. This gene usually comes from the mother, so issues with this gene can be inherited from the mother or happen by chance.

How common is Angelman syndrome?

Angelman syndrome is quite rare, affecting about 1 in 12,000 to 20,000 people. This means that while it is not common, some people will still be diagnosed with it each year.

Who is more likely to get Angelman syndrome?

Angelman syndrome can happen to anyone, but it is more commonly diagnosed in children. It affects both boys and girls equally.

How can I treat Angelman syndrome?

There is currently no cure for Angelman syndrome, but various therapies and supports can help manage symptoms and improve quality of life. Treatments may include:

  • Speech therapy to help with communication
  • Physical therapy to improve movement and coordination
  • Behavioural therapy to support learning and social skills
  • Seizure management through medications if seizures occur

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How to live with Angelman syndrome?

Living with Angelman syndrome can be challenging, but many people thrive with the right support. This may include:

  • Finding a supportive school environment that accommodates learning needs
  • Creating a consistent daily routine to help establish security and predictability
  • Accessing community resources and support groups for families

What support is available for people with Angelman syndrome?

There are various forms of support available, including:

  • Local and national support groups for families
  • Access to professionals like therapists and special educators
  • Online communities and resources for sharing experiences and advice

What’s the outlook for Angelman syndrome?

While there is no cure for Angelman syndrome, many people can lead happy lives with the right support and treatment. Early intervention is key, and ongoing care can help manage symptoms effectively.

Final thoughts

Angelman syndrome is a complex condition, but understanding it can help improve lives. If you have concerns or questions, please speak to your GP or healthcare provider for more information.

Sources

NHS, Healthline, WebMD, Patient.info

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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