Angelman Syndrome (AS) is a rare genetic disorder that affects the nervous system. It is characterized by developmental delays, intellectual disabilities, severe speech impairment, and a distinct facial appearance. One of the most recognizable features of Angelman Syndrome is the happy, excitable smile that is often seen on the faces of those with the syndrome.
What Causes Angelman Syndrome?
Angelman Syndrome is caused by a mutation or deletion of the UBE3A gene on chromosome 15. This gene is responsible for producing a protein called ubiquitin-protein ligase E3A, which is important for normal development of the nervous system. Without the presence of this gene, the body cannot produce the necessary protein, resulting in the various symptoms of Angelman Syndrome.
Why Do People with Angelman Syndrome Smile?
The exact cause of the smiles seen on the faces of those with Angelman Syndrome is unknown. It could be due to the lack of functional UBE3A gene, which could lead to an overproduction of serotonin and dopamine in the brain, causing the person to become euphoric or overly excited. It could also be caused by the person’s lack of understanding of facial expressions, causing them to smile in response to various stimuli.
How Can Smiling Help Those with Angelman Syndrome?
Smiling can be a form of communication for those with Angelman Syndrome. It can be used to express joy, excitement, or affection. It can also be used as a way to initiate conversations with others. Smiling can be a way for those with Angelman Syndrome to communicate their feelings, even if they are unable to use words.