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What is Angelman Syndrome?

Feb 29th, 2024 | by Pauline Chuang

Pauline Chuang

February 29th, 2024

What is Angelman Syndrome?

Angelman syndrome is a complex genetic disorder that primarily affects the nervous system, which is the command centre of our body. This condition is very rare as it impacts 1 on 12, 000 to 20,000 births. Angelman syndrome usually doesn’t get diagnosed until developmental delays are evident at 6 to 12 months of age.

What is the Cause of Angelman Syndrome?

Angelman syndrome is caused by a mutation of the UEBA gene. It can affect both females and males equally. The mutation occurs spontaneously and is not passed down from parents to children.

What Are Some Challenges Children With Angelman Syndrome May Face?

  • Global developmental delays
  • Seizures
  • Small head size (microcephaly)
  • Intellectual disability
  • Poor muscle control, balance and coordination (ataxia)
  • A joyful and enthusiastic demeanor with frequent displays of smiles and laughter (this characteristic tends to lessen with age)
  • Repetitive hand-flapping motions
  • Limited ability to focus for extended periods
  • Sleep disturbances (sleeping issues tend to improve with age)

What Are Some Treatment Options for Angelman Syndrome?

Early intervention should begin as soon as a diagnosis of Angelman syndrome has been made, as it can result in significant improvements in gross motor, fine motor, and communication skills.

About the Author

As a creative and dedicated physiotherapist, Pauline always strives to create a supportive environment for kids to develop the confidence and competence to reach their goals. She believes in making therapy fun, interactive, and individualised so that it is enjoyable and meaningful to each child. You can spot Pauline at NAPA with the biggest smile, colorful socks, and contagious enthusiasm & positivity.

About NAPA Centre

In this blog, we discuss causes, characteristics, therapy and treatment options for Down syndrome.At NAPA Centre, we take an individualised approach to therapy because we understand that each child is unique with very specific needs. We embrace differences with an understanding that individualised programs work better. For this reason, no two therapeutic programs are alike. If your child needs our services, we will work closely with you to select the best therapies for them, creating a customised program specific to your child’s needs and your family’s goals. Let your child’s journey begin today by contacting us to learn more.

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