Angelman Today November / December edition 2013 | Page 7
The History of Angelman Syndrome
Dr. Harry Angelman was an English physician
who identified what is now known as Angelman
Syndrome.
Dr. Angelman was born in Birkenhead, England.
He was an enthusiast for the language and
country of Italy.
He first observed three children who were
unrelated but showed similar symptoms of
severe intellectual delay, stiff, jerky gait, lack of
speech, seizures, motor disorders and happy
demeanors.
Then, while vacationing in Italy, he observed an
oil painting called… A Boy with a Puppet by the
renaissance artist Giovanni Francesco Caroto at
the Castelvecchio museum in Verona.
Reminded of the children, Dr. Angelman
published a paper in 1965 that described what
he called “puppet children”. At this time, his
paper was not immediately recognized as
important .
It wasn’t until 1982, when Charles A. Williams
and Jaime L. Frias of the department of
Pediatrics, Division of Genetics, University of
Florida College of Medicine, Gainesville
submitted a paper to the American Journal of
Medical Genetics reporting studies of six
patients and comparing their data to those from
previous reports - severe developmental delay,
“puppet-like” gait, craniofacial abnormalities,
and frequent episodes of laughter that it became
clear the syndrome was more common than
previously thought. They proposed the name of
this disorder be changed to Angelman
Syndrome.
Dr. Harry Angelman
1915 – 1996