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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 problems 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.
History Of Angelman Syndrome
Dr. Harry Angelman
Angelman syndrome was first identified by Dr. Harry Angelman, an English physician at Warrington General Hospital.
Dr. Angelman 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 a happy demeanor.
Then, while vacationing in Italy, Dr. Angelman 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”.
It wasn’t until 1982, when Dr. Charles Williams and Dr. Jaime 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. The paper reported studies of six patients and compared their data to those from previous reports. It sighted – severe developmental delay, “puppet-like” gait, craniofacial abnormalities, and frequent episodes of laughter. It became clear the syndrome was more common than previously thought. They proposed the name of this disorder be changed to Angelman Syndrome.
In 1986, Dr. Williams started the Angelman Research Group (ARG) for facilitating research and education of Angelman syndrome. A few years later, in 1990, the ARG became the Angelman Syndrome Foundation.
A Cure For Angelman Syndrome
It is believed that there is a high chance of finding a cure for Angelman syndrome, due to the fact that scientists know what causes AS and have been able to reverse it in mouse models.
Watch Dr. Arthur Beaudet discuss a cure for AS: