Angelman Syndrome (AS) is a rare neurological disorder that is caused by a mutation of the UBE3A gene, located on chromosome 15. AS is characterized by severe developmental and learning delays, motor impairment, and speech and language difficulties. It is estimated to affect 1 in 15,000 to 20,000 individuals worldwide. In most cases, the condition is not inherited, but rather is caused by a genetic mutation that occurs spontaneously in the egg or sperm before conception.
When it comes to life expectancy, the outlook for individuals with Angelman Syndrome is generally favorable. Most people with AS can expect to live a normal lifespan, although the severity of the disorder can affect life expectancy. For instance, individuals with more severe forms of the disorder may be more prone to respiratory issues or other health complications that can reduce life expectancy. Other factors that may contribute to shortened life expectancy include inadequate nutrition, inadequate physical activity, and lack of proper medical care.
With early diagnosis and proper care, however, individuals with Angelman Syndrome can live a long, healthy life. Treatment plans should be tailored to the individual and should include physical, occupational, and speech therapy, as well as medications to manage seizures and other symptoms. Nutritional counseling and psychological support can also help improve quality of life for individuals with AS and their families. With a supportive environment and an appropriate treatment plan, individuals with AS can look forward to a long, fulfilling life.