Angelman Syndrome is a rare genetic disorder affecting 1 in 15,000 to 20,000 live births. It is caused by a mutation or deletion in a gene on chromosome 15, and is typically inherited from a parent. While the syndrome affects both genders equally, the majority of those affected by it are male.
Who Is At Risk for Angelman Syndrome?
Angelman Syndrome is a genetic disorder, meaning that it is passed down through families. If a parent has a gene mutation or deletion on chromosome 15 that causes Angelman Syndrome, there is a 50% chance that their child will also have the condition. Angelman Syndrome has also been known to occur spontaneously, without any family history of the disorder.
What Are the Symptoms of Angelman Syndrome?
Angelman Syndrome is characterized by a wide range of physical and behavioral symptoms. Common physical symptoms include delayed motor development, ataxia (lack of muscle coordination) and seizures. Behavioral symptoms include frequent laughter and smiling, hyperactivity, hand-flapping, and frequent vocalizations.
How Is Angelman Syndrome Diagnosed?
Angelman Syndrome is typically diagnosed through genetic testing. This involves taking a sample of the individual's blood and testing it for a mutation or deletion in the UBE3A gene on chromosome 15. Genetic testing is the most reliable method of diagnosing Angelman Syndrome.
What Are the Treatment Options for Angelman Syndrome?
There is currently no cure for Angelman Syndrome, but there are a variety of treatment options available to help manage the symptoms. These include physical therapy, speech therapy, occupational therapy, and anti-seizure medications. In addition, individuals with Angelman Syndrome may benefit from a variety of assistive devices and tools.