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Understanding Angelman Syndrome: Causes, Symptoms, Treatments, and Health Effects
Angelman Syndrome (AS) is a rare genetic disorder that typically presents during early childhood. It is characterized by developmental delays and intellectual disabilities, most notably severe language impairment and severe motor difficulties. People with Angelman Syndrome also have seizures and subtle physical features, including a wide mouth, missing or underdeveloped teeth, and almond-shaped eyes.
Causes and Risk Factors of Angelman Syndrome
Angelman Syndrome is caused by the loss of function of the UBE3A gene, which is on the 15th chromosome, typically due to a genetic deletion, mutation, or imprinting error. When the gene does not function properly, cells have difficulty carrying out vital processes. This can lead to some of the physical and cognitive symptoms associated with Angelman Syndrome.
Symptoms of Angelman Syndrome
People with Angelman Syndrome usually present with moderate to profound developmental delays and intellectual disabilities. They may also exhibit poor musculoskeletal control and difficulty walking or talking, impaired intellectual abilities, and challenging behaviors, such as hyperactivity, repetitive motions, and hand-flapping. Other common symptoms include: seizures, microcephaly, a wide mouth, and a distinct facial appearance.
Treatments for Angelman Syndrome
At this time, there is no cure for Angelman Syndrome, however, treatments can help manage physical and cognitive symptoms and improve quality of life. Treatment options include:
- Physical therapy: Physical therapy can help individuals with Angelman Syndrome improve their motor skills, balance, and coordination, as well as their ability to engage in physical activities.
- Occupational therapy: Occupational therapy can help individuals with Angelman Syndrome improve their self-care skills, communication abilities, and overall level of functioning.
- Speech therapy: Speech therapy can help individuals with Angelman Syndrome express their needs and improve their ability to communicate with others.
- Medication: Medication can be used to treat the seizures, muscle stiffness, and sleep disturbances associated with Angelman Syndrome.
Health Effects of Angelman Syndrome
Angelman Syndrome can have a major impact on health, including:
- Difficulty sleeping: Sleep disturbances are common in individuals with Angelman Syndrome, including difficulty falling asleep and staying asleep.
- Increased risk of seizures: People with Angelman Syndrome are at an increased risk of having seizures, which can be dangerous if not properly treated.
- Heightened risk of accidents: People with Angelman Syndrome are at an increased risk of accidents due to their difficulty with physical mobility and motor coordination.
- Mental health issues: Individuals with Angelman Syndrome may experience mental health issues due to their limited ability to self-express and socialize.
Angelman Syndrome can have a significant impact on an individual’s quality of life, but with proper medical care and support, people with Angelman Syndrome can experience a better life. If you believe you or a loved one may have Angelman Syndrome, it is important to speak with a genetic counselor or doctor for further evaluation and treatment.