Angelman Syndrome

Alexis Hallden 2nd hour Biology


Angelman Syndrome was first discovered by an English physician by the name of Dr. Harry Angelman in 1965. He first noticed this when three patients were admitted to his ward who all had the same symptoms of a jerky gait, developmental disability, speech limitations, excessive laughter, and recurrent seizures. Although technology was not advanced enough for him to find the exact gene disorder, he suspected their disability went further than Down Syndrome. Because he had no outstanding evidence many physicians did not believe it existed. As he continued his research, the Doctor also wrote a book titled "Puppet Children" in an attempt to explain the disease and make its existence known.

It wasn't until 1980 that what we today know as Angelman Syndrome (AS) first appeared in the United States. It was in 1987 AS was commonly diagnosed as Prader-Willi Syndrome until Ellen Magenis, a physician at the Oregon Health Science Center) went into further research. She first noticed that the misdiagnosed victims suffered from a severe developmental delay and seizures, symptoms which were not attributed to the Prader-Willi Syndrome. At the conclusion of her research she found that AS is caused by an abnormality in the 15th chromosome pair.

How Does This Happen?

While Angelman Syndrome can be inherited it most commonly occurs as a genetic disorder. A normal, healthy baby will receive two copies of the 15th chromosome, which contains the gene UBE3A, one from each parent. A child with AS will have an abnormality on the 15th chromosome such as a missing piece, an extra piece of chromosome, or a section of the genetic code is read upside down. The most common genetic disorder for this syndrome, found in 70% of affected individuals, happens when a piece of the maternal copy is deleted, more specifically the UBE3A gene. The image to the left depicts a normal maternal chromosome and an AS maternal chromosome via deletion.

What Are the Odds?

Angelman Syndrome is fairly new and very uncommon. AS occurs in 1 of 15,000 live births and is slightly more common among Caucasians, though it does occur in all ethnicities.

Symptoms, Teatment, and Prognosis

Symptoms of AS include the following: a stiff, jerky walk, severe developmental disorders, limited speech, excessive laughter, and seizures. Developmental delays and other relating symptoms begin to be apparent around six to twelve months of age and seizures begin when a child in about two to three years old.

While there is no cure for AS itself there are treatments that can be done for its effects such as physical therapy, speech therapy, anti-seizure medications, etc. but does not affect the facial features of the person like down syndrome as seen in the picture to the above-right.

Though these disease is relatively new, it is known that, despite the disease making living life much harder, with enough help, love, and care, a victim of the Angelman Syndrome has the ability to live a long and happy life.


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