Angelman Syndrome (AS) is a genetic disorder that affects the brain and the nervous system. It is characterized by severe developmental delays, intellectual disabilities, absent to limited speech, and motor impairment. It is estimated to affect 1 in 15,000 to 20,000 births worldwide.
The primary cause of Angelman Syndrome is a deletion or mutation of the UBE3A gene located on chromosome 15, which is responsible for coding a critical enzyme needed for proper brain development. When this gene is missing, mutated, or otherwise not functioning properly, the brain cannot develop normally and the resulting symptoms of AS can occur.
The syndrome affects the brain in a number of ways. Most notably, individuals with Angelman Syndrome have intellectual disabilities, meaning they are unable to learn and process information as quickly as unaffected people. They may also have difficulty understanding language, social cues, and abstract concepts. Additionally, individuals with AS have difficulty controlling their movements, and often experience difficulty with coordination, balance, and fine motor skills.
In some cases, Angelman Syndrome can cause seizures, sleep disturbances, and breathing difficulties. It can also lead to certain behavioral issues, such as hyperactivity, restlessness, and difficulty focusing. Many individuals with AS are also prone to laughter and smiling, as well as poor sleep and feeding patterns.
Overall, Angelman Syndrome has a significant impact on the brain and the nervous system, and can cause lifelong impairments and disabilities. While there is no cure, early intervention and therapies can help individuals with AS reach their highest potential.