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About Angelman Syndrome

What is Angelman Syndrome?

Angelman Syndrome is a rare genetic disorder that affects the nervous system. It is characterized by severe developmental delays, intellectual disability, speech impairment, and movement and balance disorders. People with Angelman Syndrome often have a happy demeanor, frequent laughter, and a tendency to be excitable. Other common features include seizures, sleep disturbances, and feeding difficulties.

What are the symptoms of Angelman Syndrome?

Common symptoms of Angelman Syndrome include:

-Developmental delays
-Speech impairment
-Movement and balance disorders
-Behavioral issues such as hyperactivity, short attention span, and excitability
-Sleep disturbances
-Feeding difficulties
-Flat back of the head
-Wide-spaced teeth
-Frequent laughter and smiling
-Frequent hand flapping and arm waving

What are the causes of Angelman Syndrome?

Angelman Syndrome is caused by a genetic mutation or deletion of a specific region of chromosome 15, known as 15q11-q13. This region contains the UBE3A gene, which is responsible for producing a protein that is essential for normal brain development. The mutation or deletion of this gene can cause Angelman Syndrome. Other causes of Angelman Syndrome include imprinting defects, uniparental disomy, and mutations in other genes.

What are the treatments for Angelman Syndrome?

1. Physical therapy: Physical therapy can help improve muscle tone, balance, coordination, and motor skills.

2. Occupational therapy: Occupational therapy can help improve fine motor skills, communication, and daily living skills.

3. Speech therapy: Speech therapy can help improve communication skills.

4. Behavioral therapy: Behavioral therapy can help improve social skills and reduce challenging behaviors.

5. Medications: Medications can help reduce seizures and improve sleep.

6. Dietary changes: Dietary changes can help improve nutrition and reduce symptoms.

7. Surgery: Surgery can help improve mobility and reduce seizures.

What are the risk factors for Angelman Syndrome?

1. Maternal age: Women over the age of 35 are more likely to have a child with Angelman Syndrome.

2. Family history: If a family member has Angelman Syndrome, there is an increased risk of having a child with the condition.

3. Genetic mutations: Certain genetic mutations can increase the risk of Angelman Syndrome.

4. Chromosomal abnormalities: Abnormalities in chromosome 15 can increase the risk of Angelman Syndrome.

Is there a cure/medications for Angelman Syndrome?

There is no cure for Angelman Syndrome, but there are medications and therapies that can help manage the symptoms. These include medications to help with seizures, physical and occupational therapy to help with motor skills, speech therapy to help with communication, and behavior therapy to help with social skills.