Show:
Mode of Inheritance
Symptoms
Treatment
History of Disease
Fun Facts
100
what is the mode of inheritance
Autosomal dominant
100
When do symptoms begin to show?
During early childhood
100
What treatment is recommended to control seizures?
Prescription medication
100
Who first noted Angelman syndrome
Dr. Harry Angelman
100
What is the life-expectancy of AS patients?
Normal
200
When is the only case where AS is hereditary
Genetic Mutation
200
How does Angelman Syndrome affect development?
It slows development drastically
200
For how much of life is care suggested for a person affected with Angelman Syndrome?
life-long care
200
What was the University that became a leading center for AS research?
University of Florida
200
TRUE or FALSE: Developmental delays usually take years to notice in AS patients.
False
300
What gene is affected in AS
Maternal UBE3A
300
As people affected with Angelman Syndrome age, does difficulty sleeping worsen or lessen?
Lessen
300
What are the two ways to treat scoliosis?
Specialized jackets or surgery
300
Name one scientist that discovered that changes in the UBE3A gene were the cause
Dr. Joseph Wagstaff or Dr. Arthur Beaudet
300
TRUE or FALSE: AS very rare.
true
400
What are the 4 causes of AS
What is genomic imprinting, deletion, uniparental disomy, genetic mutation
400
People with Angelman Syndrome are often fascinated with what?
Water
400
Management is suggested for what two symptoms of Angelman Syndrome?
Feeding difficulties and heartburn
400
What was the original name for Angelman Syndrome?
Puppet Children
400
What disorder can be caused through an anomaly in the paternal version of the affected gene in AS
Prader-Willi
500
When does deletion occur
Crossing over
500
People with Angelman Syndrome often have small head size. What is the scientific word for small head size?
microcephaly
500
What are the three types of therapy that are recommended for someone with Angelman Syndrome?
Physical, occupational, and speech therapy
500
What year was the UBE3A gene discovered to be the cause of AS?
1981
500
When do seizures typically begin in AS patients
2 and 3 years old