Mild Angelman Syndrome (AS) is a rare genetic disorder that is characterized by developmental delays, intellectual disability, and abnormal physical features. Affected individuals typically have a small head size and a wide, square-shaped face. Additionally, they may have a protruding tongue, drooling, and difficulty feeding.
AS is caused by a mutation or deletion of the UBE3A gene on chromosome 15. This gene is responsible for the production of a protein that is important for normal neurological development. As a result, individuals with AS have difficulty learning new skills, speaking, and understanding social cues. They may have limited communication skills, often relying on simple words or gestures to communicate their needs.
Physical features of AS can vary from person to person. Common physical features include stiff joints, tremors, and frequent hand-flapping movements. Individuals with AS may also have seizures, sleep disturbances, and gastrointestinal issues.
While there is no cure for AS, early intervention and therapies such as speech, physical, and occupational can help individuals with AS reach their full potential. Additionally, medications can be used to help control seizures. With the right support, individuals with mild AS can lead full and independent lives.