Angelman Syndrome

What is Angelman Syndrome?

Angelman syndrome is a genetic condition that is considered to be quite rare. It only affects about 1 in 16,000 people on average. When a child is born with Angelman syndrome, they suffer from developmental disabilities as well as other problems. Considered a neurological condition, Angelman syndrome primarily affects the nervous system.

This particular genetic condition has to do with a specific gene known as the UBE3A gene. In the majority of Angelman syndrome cases, the maternal copy of this gene is missing entirely. And in some others, that maternal UBE3A gene is mutated rather than missing. There are also some instances in which the gene abnormality comes from the father’s copy of the gene, but these are much rarer.

What are the Symptoms of Angelman Syndrome?

The symptoms and signs of Angelman syndrome generally do not show up until between 6 and 12 months of age.

Infant symptoms

At these young ages, the symptoms include a lack of babbling or other vocalizations and an inability to begin crawling or scooting on their own. An inability to walk can also be an early sign of this syndrome.

Other symptoms

Other symptoms include long-term language impairment, bouts of frequent laughter, seizures, restlessness, microcephaly (small head size), excitability, and trouble sleeping or not needing a normal amount of sleep.

Angelman Syndrome Causes

The causes of Angelman syndrome are genetic. It is inherited from a specific gene – the affected individual inherits Angelman syndrome from their parents. When assessing and diagnosing Angelman syndrome, the indicator is a genetic mutation on chromosome 15. When only one part of the gene is activated in the brain, then the child will display the symptoms of Angelman syndrome.

In about 11% of cases, Angelman syndrome is caused by a mutation in the maternal copy of the UBE3A gene. In a smaller percentage, it is caused when the individual inherits two copies of chromosome 15 from their father (paternal copies) instead of one copy from each parent. About 70% of cases occur when parts of the chromosome 15 are deleted. In rare cases, it’s caused by gene translocation or mutation.

If the mother’s UBE3A is missing or not activated in the brain, then the patient will encounter difficulties in different aspects of the nervous system. The genes that control actions of the nervous system are affected and the patient displays various symptoms.

How is Angelman Syndrome Treated?

There is no cure for Angelman syndrome. However, there are treatment and management options for symptoms and to help a child with Angelman syndrome to cope and develop as well as possible.

Therapy

Occupational and physical therapy are options to help with mobility issues and problems with daily living tasks. Behavioral therapy, communication therapy, and speech pathology are also quite helpful in managing this syndrome.

Medication

Medication Prescription medications can be administered for seizures to help better control and prevent them.

Surgery

Some people with Angelman syndrome also benefit from back braces or spinal surgery to correct curvatures in the spine that occur as a result of this genetic condition.

Angelman Syndrome Prevention

There is no way to prevent Angelman syndrome. It is sporadic. In some cases, it is caused by genetics, so birth control is a possible solution.

There are different medications and therapies available to patients to help them to cope with the disabilities and effects of Angelman syndrome. One potential is medication, such as anticonvulsants, to help them with seizures that sometimes occur, beginning around the age of 2.

Others are behavioral therapy to help them learning coping skills. Language therapy can help them develop social skill as well as socializing. If one child already has Angelman syndrome, then the mother’s chromosome 15 can be tested to see if there is any indicators that it will happen again in the future.

Resources
Last Reviewed:
September 12, 2016
Last Updated:
November 08, 2017