Angelman Syndrome
By Maiya LeBron
6 th grade
7 th
period
Science
Angelman syndrome was first discovered in1965 by an English physician named
Dr. Harry Angelman. Most cases of Angelman syndrome are not inherited, sometimes caused by the mother leaving out chromosome 15. These genetic changes occur as random events during the formation of reproductive cells in early development. Affected people typically have no history of the disorder in their family.
Symptoms are usually noticeable by age of 6 to 12 months, like mental retardation, unusual facial appearance, and muscular abnormalities. Angelman syndrome is a genetic disorder that causes developmental disabilities and nervous system problems such as, difficulty speaking, balancing and walking, and in some cases, seizures. Frequent smiles and outbursts of laughter are common for people with Angelman syndrome, and many have happy, excitable personalities and jerky movements, and flapping of the hands that are similar to a puppet. This syndrome is also referred to as the “happy puppet syndrome”.
Hyperactivity and short attention span is common. Most affected children also have difficulty sleeping and have less sleep than usual. Some affected people have unusually fair skin and light-colored hair. Angelman syndrome affects an estimated 1 in
12,000 to 20,000 people.