Angelman Syndrome: Understanding the Causes and Symptoms

What is Angelman Syndrome?

Angelman syndrome (AS) is a rare genetic disorder characterized by several symptoms that impact the nervous system. It is caused by alterations in a specific gene called UBE3A, which is responsible for essential cellular functions.

Symptoms and Characteristics

Specific symptoms of AS include:

• Small head size (microcephaly)
• Distinct facial appearance with a wide mouth, thin lips, and a pointed chin
• Developmental delays and intellectual disabilities
• Speech and language difficulties
• Characteristic laughter and happy demeanor
• Sleep disturbances
• Seizures

Prevalence and Causes

AS is a rare condition affecting approximately 1 in 15,000 live births. The exact cause is still being studied, but most cases result from genetic mutations or abnormalities in the UBE3A gene. However, it's important to note that AS can also be caused by other genetic factors or chromosomal rearrangements, making its diagnosis complex.