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February 15th is Angelman Syndrome Awareness Day

Feb 15th, 2024 | by Serena Patel, PT, DPT

Serena Patel, PT, DPT

February 15th, 2024

In honor of Angelman syndrome awareness day, this blog explores the diagnosis and treatment options. Angelman syndrome is a rare genetic disorder that affects the nervous system, causing developmental delays and physical impairments. Although there is no known cure for Angelman’s syndrome, there are treatments available that can help manage and improve the symptoms of the disorder.

For parents of a child diagnosed with Angelman syndrome, we share some great tips from other AS parents at the bottom of this post.

Your child will meet milestones and make progress, just in their way and time. Keep the bar high so they can reach their maximum potential!

What is Angelman Syndrome?

Angelman syndrome is a rare, very complex, neurodevelopmental condition that primarily affects the nervous system because of issues with a specific gene (UBE3A) that occurs before the baby is born. Our nervous system is the command center for our body, starting in the brain, it controls our movements, behaviours, thoughts, and automatic responses to the world.

What Are Some Common Characteristics of Those Diagnosed With Angelman Syndrome?

The characteristics below affect most people diagnosed with Angelman syndrome, including adults and children:

  • Developmental delay
  • Intellectual disability
  • Limited speech
  • Movement and balance deficits
  • Seizures

Characteristics Unique to Children Diagnosed With Angelman Syndrome:

The characteristics listed below are commonly seen in children diagnosed with Angelman syndrome:

  • A joyful and enthusiastic demeanor with frequent displays of smiles and laughter (this characteristic tends to lessen with age)
  • Repetitive hand-flapping motions
  • Hyperactivity and a limited ability to focus for extended periods
  • Sleep disturbances (sleeping issues tend to improve with age)

How Common is Angelman Syndrome?

Angelman syndrome is very rare, impacting around 1 in 12,000 to 20,000 people. It can affect both people assigned male and people assigned female equally and is oftentimes the result of a spontaneous gene mutation, not a condition that is passed down biologically from parent to child.

Angelman Syndrome Treatment Options

Currently, there is no known main treatment or cure for Angelman syndrome. Research is focused on targeting specific genes for treatment. Healthcare providers focus on the treatment of specific symptoms that each child may have. Oftentimes, children with Angelman syndrome have unique symptoms and may present differently than another child of the same age diagnosed with Angelman syndrome. Early diagnosis is key to helping a child maintain high quality of life. A qualified team of specialists that includes, but is not limited to: paediatricians, neurologists, rehabilitation therapists, gastroenterologists, and nutritionists are important to treatment.

Early diagnosis is key to helping a child maintain high quality of life.

Examples of Symptom Management for Angelman Syndrome May Include:

  • Anti-seizure medications
  • Physio, occupational, and speech therapy
  • Use of ankle/foot braces or devices to assist with walking
  • Adherence to strict bedtime routines
  • Behavioural therapy

Tips For Parents Who Have Children Diagnosed With Angelman Syndrome:

Having a child who is diagnosed with any disability can be overwhelming. Below are some helpful tips from other AS parents.

  • Remind yourself that your child is probably capable of more than you think. Keep the bar high so they can reach their maximum potential! Your child will meet milestones and make progress, just in their way and time.
  • Be proactive about care. Work on communication, activities of daily living, and academics before providers think your child is ready. There’s no reason to wait, you know your child best!
  • Find support in communities. There are plenty of virtual support groups you can join to get more advice from people who have knowledge to share. Angelman Syndrome Foundation, Angelman Connections, or local groups are some of the more popular options.
  • Visit an ASF clinic! There are clinics globally that can help you better understand your child’s diagnosis.
  • Give yourself credit! Understand that everyone is not going to be in the same place emotionally all the time. Your love and attention to your child will not go unnoticed.
  • Check out: Angelman Syndrome Foundation – With you for the journey for other resources. Other AS families have put together incredible resources for navigating Angelman syndrome.

Feb 15th is Angelman syndrome awareness day

About the Author

Serena Patel is a paediatric physiotherapist at NAPA Los Angeles who received her DPT from Duke University. Outside of her love for kiddos, she enjoys spending time outdoors with her friends and family, reading or baking delicious goodies. Having been trained in dance, she also appreciates sharing her passion with other kids through teaching occasional classes at her old studio!

About NAPA Centre

At NAPA Center, we take an individualised approach to paediatric 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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