Angelman Syndrome

A photo of Madden and his family. Our genetic services ensure that patients get the testing needed.

AmbitCare

June 25, 2022

"For the first few months, Madden was the perfect baby. He didn't really cry and was happy all the time. Around six months, we noticed he wasn't doing as much as our daughters had – he wasn't as active, didn't babble. Our doctor mentioned that he was a little delayed at his six-month appointment – but my wife and I both thought, no, he's fine. Three months go by, and at the nine-month appointment, the doctor said he was even more delayed and recommended a helmet because Madden had a flat head. We got the helmet, and another few months went by. We saw the doctor again, and he noted that Madden was getting really delayed. So, we signed him up for some therapies, and one of the doctors suggested that he might have Angelman Syndrome. All the symptoms of Angelman Syndrome were just like our son. They are happy, and they love water – from when our son was a baby to today, he loves water. They like to be around people. They flap their arms. They have developmental delays, such as learning to walk or talk, being able to interact with others socially and emotionally, and being able to learn new things."

As told by Hyrum, father to Madden who was eventually diagnosed with Angelman Syndrome

What is Angelman Syndrome (AS)?

Angelman Syndrome is a rare disorder that affects approximately 1 in every 12,000 to 20,000 people. Angelman syndrome is a condition of the nervous system characterized by seizures and development delays.

It can also cause hyperactivity (always active, can be called ADHD), seizures, shaking movements of the limbs, difficulty swallowing, and other medical issues. Males and females are equally affected and there is currently no cure.  

Cause of Angelman Syndrome

Angelman Syndrome is caused by a missing UBE3A gene or a change in the gene. In most cases, it occurs when part of the copy from the mother is flawed or missing. In rare cases, it is caused by the two copies of the flawed gene from the father of the gene rather than one from each parent.

This gene is responsible for producing a protein called ubiquitin. This protein helps to regulate the activity of other proteins, and without it, the cells in the brain cannot function well. This leads to the typical features of Angelman Syndrome, including developmental delays, seizures, and weak muscles.

The majority of cases of Angelman syndrome are not inherited, especially those caused by a chromosome 15 deletion from the mother, or a uniparental disomy (occurs when a person gets two copies of a chromosome, or part of a chromosome, from one parent and no copies from the other parent) from the father. These genetic alterations occur at random during the development of the baby’s cells (eggs and sperm) or during the early stages of development. Typically, individuals have no family history of the condition.

Key Characteristics

Seizures

Patients with AS may have different types of seizures, typically before the age of 3, called infantile seizures.

Developmental Delays

Patients with AS may come to doctors with initial symptoms like lack of crawling or lack of babbling. Other symptomatic delays include:

  • Problems with balance  
  • Speech and language delays
  • Feeding problems
  • Difficulty pooping
  • Behavior problems
  • Trouble sleeping
  • Excited and happy personalities

Other key characteristics:

  • Bent spine (scoliosis)
  • Tiny head size (microcephaly), with a flat back of the head
  • Light-colored hair, eyes, and skin
  • Tongue thrusting (moving tongue out of the mouth)
  • Strange habits, such as hand flapping and arms raised when walking
  • Older children with AS have a tendency for overeating, which can result in obesity

How is Angelman Syndrome diagnosed?

There are several diagnostic tests that can be used to diagnose Angelman Syndrome.  

Diagnostic Testing

  • A genetic test can determine whether or not a person has the UBE3A gene mutation
  • A urinary test can measure the level of ubiquitin in the urine, which can help confirm a diagnosis
  • An EEG can detect seizures associated with the disorder
  • An ultrasound can help identify physical abnormalities in the brain
  • A MRI can reveal how the brain is functioning

Is there a cure for Angelman Syndrome?

There is no cure for Angelman Syndrome as of now and it is a life-long condition. However, there are treatments available that can help with the symptoms of the syndrome. This helps people with Angelman Syndrome to live as full lives as possible. Some treatments include speech and language therapy, occupational therapy, and behavioral therapy.

How is Angelman Syndrome managed?

Let’s return to Madden’s story.

"For parents or caregivers still seeking a diagnosis, I would give two pieces of advice. Number one - listen to your gut and believe it. My wife and I both felt that he had Angelman Syndrome from the day we learned about Angelman Syndrome. Number 2 - find a community and hear from other people. We started an Instagram for Madden, and people would reach out to us all the time, some with a diagnosis, some without, and say we're on the same journey as you to figure this out. If you believe that your child has a particular diagnosis, navigate that, do your research, and push. Finding stories and sharing them is essential because there are parents out there with kids with special needs who don't have a diagnosis, and your story could bring them closer to finding answers."

Like, Hyrum, there are things that parents can do. Once their child is diagnosed with Angelman Syndrome it is important to seek help from the care team and other families who share similar experiences.  

Also, there are treatments available to help manage symptoms. Some of the common treatments include medications, therapies, and interventions. Each person with Angelman Syndrome will respond differently to these treatments, so it is important to work with a healthcare professional to find the best treatment plan for each individual.

Medication

There are a number of medications that can be used to help people with Angelman Syndrome. Some of the most common medications include:

  1. Seizure Medications: These medications are used to help control seizures in people with Angelman Syndrome.  
  2. Antipsychotic Medications: These medications are used to help manage behavioral problems in people with Angelman Syndrome.  
  3. Melatonin: This medication is used to help regulate sleep patterns in people with Angelman Syndrome.  
  4. Growth Hormone Therapy: This therapy is used to help promote healthy growth in people with Angelman Syndrome.
  5. Medication and Dietary Changes: It helps to resolve belly and bowel issues like constipation and feeding difficulties.

Therapy

There are a number of therapies that can be used to help people with Angelman Syndrome. Some of the most common therapies include:

  1. Speech Therapy: This therapy is used to help people with AS develop communication skills.
  2. Occupational Therapy: This therapy is used to help those with AS develop daily living skills.
  3. Physical Therapy: This therapy is used to help people with Angelman Syndrome develop motor skills.  
  4. Behavioral Therapy: This therapy is used to help those with AS manage their behaviors.

Other Interventions and Support Services

There are a number of interventions that can be used to help people with Angelman Syndrome. Some of the most common interventions include:

  1. Sensory Interventions: These interventions are used to help people with Angelman Syndrome cope with sensory (involving senses of vision, smell, hearing, and touch) challenges.  
  2. Feeding Interventions: These interventions are used to help people with Angelman Syndrome with feeding difficulties.  
  3. Communication Interventions: These interventions are used to help people with Angelman Syndrome develop communication skills.  
  4. Social Skills Interventions: These interventions are used to help people with Angelman Syndrome develop social skills.

Read more about Madden's full story

Life beyond the diagnosis

Angelman Syndrome is a life-long condition that affects people in different ways. However, there are treatments available that can help people with Angelman Syndrome to live as full lives as possible. If you or someone you know has Angelman Syndrome, be sure to talk to your doctor about the best treatment options for you.

Learn more about Angelman Syndrome

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