Dr. Harry Angelman (see Figure 3), an English pediatrician, first described three individuals with the same characteristics in 1965.  He initially called them “The Puppet Children” because while on a vacation in Italy, Dr. Angelman saw the painting (see Figure 4), “A Boy With a Puppet” and saw similarities between the boy in the painting and the children that he observed. They all seemed to have the same happiness and marionette-like limbs that were reflected in the painting (The U.S. National Library of Medicine, 2016). Later the syndrome was given a more appropriate name, Angelman Syndrome.

 

 

 

 

 

 

 

 

 

 

 

 

Though Dr. Angelman initially made the connection of certain characteristics of AS in 1965, it was considered rare, and some doctors even doubted its existence (The U.S. National Library of Medicine, 2016). It wasn’t until the 1980s that the first reports of AS came from North America. Years later, in 1987, a doctor in Oregon (US), Ellen Magenis, made the finding of deletions in the chromosome 15 that was contributed paternally, a condition known as Prader-Willi Syndrome. Magenis' important discovery contributed to the AS gene (UBE3A) being isolated in 1977 by Dr. Joseph Wagstaff and Dr. Arthur Beaudet (GeneticaLens, 2003).