What Is Angelman Syndrome?
If you’ve been WONDERing with us for a while, you already know a bit about DNA. You may know it influences many things about you, including your eye color. Maybe you’ve read that scientists could one day edit DNA. Perhaps you’ve even learned that your DNA can make music.
You probably also know that DNA makes up your genes and that those genes form chromosomes. Some people have an extra chromosome—this causes Down syndrome. Today’s Wonder of the Day is about another chromosomal condition called Angelman syndrome (AS).
What is Angelman syndrome? It’s a condition that affects the body’s nervous system. It can cause a variety of symptoms, including difficulty with movement and communication. Many people with AS also have epilepsy and difficulty sleeping. They may also have microcephaly.
Children with AS tend to smile and laugh more often than others. Like most kids, they become excited about many parts of the world around them—and they often take it to the next level! Kids with AS may also wave their arms and legs with excitement. Many children with AS also have short attention spans.
People are born with AS, but they’re often undiagnosed until they’re at least six months old. In many cases, children are even a few years old before their families learn they have AS. The earliest signs of the condition are developmental delays. For example, children with AS might not learn to walk until they’re two or older. About 10 percent of people with the condition never walk without help.
What causes Angelman syndrome? It all has to do with a person’s chromosomes. Most people have 46 of these—23 from each parent. AS is caused by an issue with chromosome 15. It contains a gene called UBE3A. Most people have a copy of this gene from each parent.
The most common cause of AS is a missing UBE3A gene from a child’s mother. It could also be that the child did inherit UBE3A from their mother, but the gene is not working. In rare cases, AS occurs when a child has two copies of the gene, but they both came from the father. Other times, the cause is unknown.
Doctors are still learning a lot about AS and how to treat it. Many people with the condition improve their balance and ability to walk with physical therapy. They also learn ways to communicate non-verbally. This often includes the use of pictures or sign language.
Do you know anyone with AS? If so, you know they can be a lot of fun to have around. Their laughter and cheerful demeanors can seem contagious. Like many conditions, AS makes some parts of life more difficult. However, people with this condition often live long, happy lives with their loved ones.
read more at Wonderpolis.org