"Angelman syndrome"の定義と意味

What is "Angelman syndrome"?

Angelman syndrome is a rare genetic disorder that affects the nervous system, causing developmental delays, intellectual disability, and movement problems. It is typically characterized by a happy attitude, frequent smiling and laughter, and a strong interest in water. People with Angelman syndrome often have serious difficulties with speech and may communicate using gestures or assistive devices. Other common features include seizures, sleep disturbances, and a unique facial appearance with a wide mouth, widely spaced teeth, and a sticking-out tongue. Angelman syndrome is caused by changes or missing parts in the UBE3A gene on chromosome 15. There is currently no cure for Angelman syndrome, but treatment focuses on managing symptoms and providing supportive care to improve the individual's quality of life. This may include physical therapy, speech therapy, occupational therapy, and medications to manage seizures or behavioral problems.