What Is Angelman Syndrome? Signs, Causes, and Diagnosis

Angelman syndrome is a genetic condition that impacts the nervous system. It causes speech problems, delayed development, issues with balance and movement, and intellectual disability. In some cases, it may even cause seizures.

Unfortunately, there is no cure for the Angelman disorder. But certain treatment and management methods can help the child manage the symptoms.

In this article, we’ll discuss what Angelman syndrome is, its causes, symptoms, risk factors, diagnosis, and treatment methods.

What is Angelman Syndrome?

Angelman syndrome, also called happy puppet syndrome or Angelman disease, is a rare genetic disorder that affects how the brain works. It happens due to a change in a specific gene that helps nerve cells communicate.

The condition is usually detected during the first year of a baby’s life when it shows slow development or delayed milestones. As the baby grows, it may face challenges with speech, movement, and balance.

Children with Angelman syndrome are usually very cheerful. With proper care and therapy, they can lead healthy, happy lives.

What Causes Angelman Syndrome?

Angelman syndrome occurs due to a change in a gene called UBE3A on chromosome 15. This gene helps the brain develop and control movement and communication.

An individual typically gets one copy of this gene from each parent. However, only the mother’s copy is active in certain parts of the brain. If this copy is missing or damaged, the brain does not get the signals it needs. This leads to the development of Angelman syndrome characteristics.

In some rare conditions, a person may receive two copies of the UBE3A gene from the father instead. This also causes Angelman disorder.

What are the Risk Factors of Angelman Syndrome?

Angelman syndrome is extremely rare. In most cases, it occurs without any clear reason. As such, there is still no solid research that suggests what triggers the genetic change that leads to this disorder.

In some families, however, the condition can be passed down from a parent. This means that if there is a history of Angelman syndrome in the family, it increases the risk of having a child with the same disorder. Doctors often recommend genetic testing to understand the risk involved.

What are the Symptoms of Angelman Syndrome?

Angelman syndrome symptoms appear in early childhood. They affect movement, speech, and development. Common Angelman symptoms include:

• Delayed development, often noticed around 6 to 12 months
• Limited or no speech
• Difficulty walking, balancing, or moving smoothly
• Frequent smiling, laughter, and excitement
• Trouble sleeping or staying asleep
• Seizures that may begin around age two or three

Other Angelman syndrome symptoms may include:

• Small head size
• Jerky movements
• Light-colored hair or skin
• Crossed eyes

How is Angelman Syndrome Diagnosed?

Doctors may diagnose the condition if a child laughs frequently, has movement problems, or experiences seizures. However, to confirm the diagnosis, they recommend genetic testing. This is done to check for changes in the UBE3A gene.

In some cases, noninvasive prenatal screening (NIPS) can detect the risk of Angelman syndrome before birth.

How to Manage/Prevent Angelman Syndrome?

Presently, there is no cure for Angelman syndrome. However, early treatment and proper care can help improve quality of life. Management methods for the disorder focus on easing symptoms and supporting development based on individual needs. Some common treatment methods include:

• Antiseizure medicines
• Speech and communication therapy
• Physical and occupational therapy
• Special education programs
• Sleep management techniques
• Feeding support for infants

While Angelman syndrome is a lifelong condition, the right care and therapy can help a child lead a fulfilling life. If an individual has a family history of this condition or is planning a pregnancy, they must consult a doctor and book a genetic test on the Dr. Lal PathLabs app.

FAQs

1. What is the main cause of Angelman syndrome?
   Angelman syndrome occurs if a gene called UBE3A on chromosome 15 is missing or not working properly. This gene helps the brain develop and function normally.
2. At what age does Angelman syndrome start?
   Signs of Angelman syndrome usually appear between 6 and 12 months of age. They are noticeable when a baby shows slow development or misses early milestones.
3. Is Angelman syndrome diagnosed before birth?
   Yes, in some cases, Noninvasive prenatal screening (NIPS) can detect the risk of Angelman syndrome before birth. This screening checks for small DNA fragments in the mother’s blood.