Angelman Syndrome
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1. Who first discovered this disorder? Where, when, and under what circumstances was it discovered?

In 1965, Dr. Harry Angelman, an English physician had three patients who were children that had the same characteristics such as absent speech, seizures, excessive laughter, and jerky gait. The children were seen by Dr. Angelman at different times, however, they were said to have the same handicap disabilities; but he could not scientifically prove it. When on vacation in Italy during a holiday, the doctor saw an oil painting with a boy laughing and exhibiting jerky movements, which reminded him of his patients. The painting was named “The Puppet Boy.” The encounter gave him the idea of writing an article about the three children, which he called “Puppet Children,” later changing the name to Angelman Syndrome. The article was published in 1965.


-The first cases in North America appeared in the early 1980’s.


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2.What are the symptoms/characteristics associated with this disorder? At what age do the symptoms begin? Are the symptoms treatable? If so, how? Is the disorder fatal?

Characteristics/symptoms-
*Developmental delay
*Lack of speech
*Seizures
*Balance and walking disorders
Angelman Syndrome is a rare neuro-genetic disorder occurring in 1 in 15,000 births. It affects the ages of zero-forty years old, and rarely any higher. The delayed development is visible around 6-12 months old, with early symptoms being seen in before 6 months. Treatments include anti-seizure antibiotics and therapy to help manage the medical and developmental disorders. Individuals with the disorder are able to live full normal life spans.


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3.What is the inheritance pattern of the disorder: dominant, recessive, sex-linked, autosomal, other?

-Angelman Syndrome is a chromosomal disorder.
-It is not inherited, causing it to happen just by chance.

4.Are there any environmental factors that can affect the symptoms (either aggravate or alleviate)?

-There are not any known environmental factors that can influence Angelman Syndrome.

5.How common is this disorder? Does it occur more frequently in certain parts of the world or in certain ethnic groups or in one sex?

This disorder is rare. However, it is also often misdiagnosed as autism because it is not a well-known disorder. It affects an estimated 1 in 15,000 people. There is not a particular group that it affects the most, it just occurs by chance.

6.What tests are done to confirm a diagnosis of this disorder?

-For 85% of the people, a blood test can identify whether the UBE3A gene is working right.
-For the others, a doctor who has a great amount of knowledge about the disorder can detect if the patient has it or not.


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7.Which chromosome(s) is responsible for this disorder? Is it caused by a gene mutation? Which gene is involved? Is it caused by a chromosomal mutation? Which type: nondisjunction, deletion, inversion, etc.?

Angelman Syndrome is caused by a loss of the function of gene UBE3A. The loss of the gene function is caused by a deletion in the maternal chromosome 15; in which, the genetic changes occur in the formation of reproductive cells, or even in early stages of embryonic development.
-Many of the people who have the disorder have no history of it being in their family.


http://www.cidd.unc.edu/Angelman-Syndrome/about.aspx
https://www.angelman.org/what-is-as/medical-information/
https://www.medicinenet.com/angelman_syndrome/article.htm#is_there_any_treatment_for_angelman_syndrome
http://www.childrenshospital.org/conditions-and-treatments/conditions/a/angelman-syndrome/symptoms-and-causes