Understanding Angelman Syndrome
Angelman syndrome (AS) is a rare neuro-genetic disorder affecting one in every 15,000 births worldwide. Learning what AS is and how it impacts daily life, is the first step toward meaningful advocacy.
What is Angelman Syndrome?
Angelman syndrome (AS) is a rare neuro-genetic disorder that occurs in one in 15,000 live births or 500,000 people worldwide. It is caused by a loss of function of the UBE3A gene in the 15th chromosome derived from the mother.
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.
Facts About Angelman Syndrome
Fact
1
AS is a rare disease affecting 1:15,000 people.
Fact
2
Fact
3
AS is caused by a lack or
dysfunction of the UBE3A protein in the brain.
Fact
4
Individuals suffer a nearly universal absence of verbal speech, motor impairment, seizures, and other severely debilitating symptoms.
Fact
5
Individuals suffer from balance and coordination disorders, some are unable to walk.
Fact
6
Some individuals exhibit severe anxiety due to their inability to communicate effectively.
Fact
7
Many have a hard time falling asleep or staying asleep. This is very challenging for the individual and the caregiver(s).
Fact
8
Symptoms manifest in the earliest months of life, with many individuals diagnosed by the age of 2.
Fact
9
Despite the impact to the brain, AS is not degenerative, meaning that brain tissue is not deteriorating due to the disease.