Angelman Syndrome: A Complex Neuro-Genetic Disorder
What is Angelman Syndrome?
Angelman syndrome (AS) is a rare and complex neurodevelopmental condition that affects the nervous system, causing developmental delays, intellectual disabilities, and speech impairments. It is caused by a loss of function of the UBE3A gene on chromosome 15.
Symptoms of Angelman Syndrome
Symptoms of AS can vary, but common features include:
- Small head
- Specific facial appearance (e.g., happy demeanor, wide mouth)
- Difficulty with balance and coordination
- Speech impairments
- Intellectual disabilities
- Delayed development
- Behavioral problems (e.g., hyperactivity, attention deficit)
- Seizures
- Sleep disturbances
Diagnosis and Treatment
AS is typically diagnosed based on clinical symptoms and genetic testing. Treatment focuses on managing symptoms and maximizing the individual's potential. Therapies may include speech therapy, physical therapy, occupational therapy, and medications to manage seizures.
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