What You Need to Know About Angelman Syndrome
A Genetic Disorder with Neurodevelopmental Impact
Understanding Angelman Syndrome (AS)
Angelman syndrome (AS) is a rare genetic disorder that primarily affects the nervous system. It is caused by a change in a gene called UBE3A, which is responsible for producing a protein essential for proper brain development. AS occurs in approximately one in 15,000 live births, affecting both males and females equally.AS primarily affects the nervous system, leading to a wide range of symptoms, including:
- Intellectual and developmental disabilities
- Delayed speech and communication skills
- Movement and balance difficulties
- Seizures
- Sleep disturbances
Individuals with AS often have a distinct facial appearance, characterized by a wide mouth, prominent chin, and happy demeanor. They may also exhibit repetitive behaviors, such as flapping their hands or rocking side-to-side.
Causes and Diagnosis
AS is caused by a loss of function in the UBE3A gene on the 15th chromosome. This gene is imprinted, meaning that only one copy (from the mother) is active in most cells. In AS, either the maternal copy of the UBE3A gene is missing or is altered in a way that prevents it from functioning properly. Diagnosing AS can be challenging, as it is a rare disorder with a wide range of symptoms. A variety of tests, including genetic testing, can be used to confirm a diagnosis.Treatment and Management
There is currently no cure for AS, but treatment can help improve symptoms and quality of life. Treatments may include:- Medication to manage seizures and other neurological symptoms
- Speech and language therapy to improve communication skills
- Occupational and physical therapy to enhance mobility and coordination
- Behavioral therapy to address repetitive behaviors and social challenges
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