Angelman Syndrome: Angels On Earth

Angelman syndrome (AS) is a rare neurogenetic disorder that affects about one in 15,000 people, or approximately 500,000 individuals worldwide. Some say it could be as frequent as one in 8,000 people, or over 1,000,000 individuals worldwide.

People living with AS have a genetic difference on chromosome 15. People with these chromosomal changes do not produce any, or remotely enough, of something called UBE3A—which is a protein involved in brain functioning that helps us walk, talk and perform many other everyday tasks.

Angelman syndrome shares symptoms and characteristics with other disorders including autism, cerebral palsy and Prader-Willi syndrome. Due to the common characteristics, misdiagnosis occurs often.

People with Angelman syndrome have developmental challenges that become noticeable by the age of 6 – 12 months. Other common signs and symptoms usually appear in early childhood like walking and balance disorders, gastrointestinal issues, seizures and little to no speech. Despite these symptoms, people with Angelman syndrome have an overall happy and excitable demeanor. An individual with AS will light up a room with their smile and laughter.

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  • Angelman syndrome (AS) is a rare neuro-genetic disorder that occurs in one in 15,000 live births or 500,000 people worldwide. [...]