Angelman Syndrome (AS) is a rare genetic disorder that causes severe physical and mental disabilities. It is caused by a deletion or mutation of a particular gene that is critical for normal brain development. Unfortunately, the life expectancy for individuals with Angelman Syndrome is significantly lower than average, and the cause of death is usually related to the physical and mental challenges of the disorder.
Neurological Complications
One of the primary causes of death in individuals with Angelman Syndrome is neurological complications. These can include seizures, respiratory problems, and other neurological issues that can make it difficult for individuals to breathe or control their movements. Seizures are especially common in individuals with AS, due to the abnormal brain development caused by the gene mutation. Seizures can lead to respiratory or cardiac arrest, which can be fatal.
Gastrointestinal Problems
Gastrointestinal issues are also a common cause of death in individuals with Angelman Syndrome. These can include constipation, diarrhea, and vomiting. These conditions can lead to dehydration and nutritional deficiencies, which can be fatal if left untreated. Gastrointestinal issues can also lead to aspiration, which is when food is inhaled into the lungs. Aspiration can cause pneumonia, which can be life-threatening.
Infections
Infections are another common cause of death in individuals with Angelman Syndrome. Individuals with AS have weakened immune systems, and are more prone to bacterial and viral infections. Common infections in individuals with AS include pneumonia, meningitis, and urinary tract infections. If left untreated, these infections can be fatal.
Accidents and Injuries
Accidents and injuries are a common cause of death in individuals with Angelman Syndrome. This is due to the impaired physical and mental abilities associated with the disorder. Individuals with AS have difficulty walking and may be prone to falls. They can also have difficulty recognizing dangerous situations, and may be more prone to accidents.
Other Causes of Death
Other causes of death in individuals with Angelman Syndrome can include heart problems, genetic disorders, and complications from medications. In some cases, the cause of death is never determined.
The life expectancy for individuals with Angelman Syndrome is much lower than average, and the cause of death is often related to the physical and mental challenges of the disorder. Common causes of death include neurological complications, gastrointestinal problems, infections, accidents and injuries, and other genetic or medical issues.