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By: Vineet Ravoori. Angleman Syndrome. History.

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By vineet ravoori

By:

Vineet Ravoori

Angleman Syndrome


History
History

Angelman Syndrome was first noticed by Dr. Harry Angelman in 1965, when he noticed three children who had stiff, jerky gait, abnormal laughter and seizures, and absent speech. Angelman said that he encountered these three kids by “pure chance”, or in other words, he met them on accident. As he was examining these kids in his hospital in England, he observed that all three children had different problems/conditions, but theorized that all of them had been suffering under the same dilemma. Angelman, however, was not able to prove that these three people had the same disease because of his lack of technology, therefore not publishing an article on this issue. It was not until he took a trip to Italy and saw a painting in a museum called “A Boy With A Puppet”, that he had an urge to take up his original findings. This picture depicted a boy with a laughing face which reminded him of the abnormal laughter of his patients and influenced him to write an article about the disease which he called Puppet Children. Due to unhappy feedback from parents, the name was changed to Angelman Syndrome.

Dr. Harry Angelman


Symptoms
Symptoms

  • This genetic disorder/mishap affects the nervous system.

  • Some symptoms/characteristics of people with Angelman syndrome include delayed development, intellectual disability, severe speech impairment, hyperactivity, scoliosis, and ataxia (movement problems).

  • Also, epilepsy (repeating seizures) and microcephaly (small head size) are noticed with children that have this syndrome.

  • The symptoms are usually noticed at a very young age, usually between the first 6 months to a year of a baby.

  • Kids with this disease are usually always happy with constant smiling and laughing, and have trouble falling asleep.

  • As people with Angelman syndrome grow older, the symptoms start to have a lesser effect. For example, the grown children (adults) are now not as “happy” and their sleeping troubles improve.

  • Although some symptoms start to “fade off”, others stay forever, such as intellectual disability, speech impairment, and seizures.

  • Features of people with Angelman syndrome usually have a light skin tone and light colored hair.


The genetics
The Genetics

  • It was after two decades that the forgotten research by Henry Angelman was again taken up. Ellen Maganis was the one to have explained the genetics behind the Angelman syndrome. She concluded that this disease was a result of microdeletions on the chromosome 15.

  • After thorough experiments, it was found that when isolating the UBE3A gene (in animals) they also developed the syndrome. This led to the belief that the dysfunction or disappearance of UBE3A leads to Angelman syndrome.

  • The gene UBE3A is received by both parents, and both of these copies remain active throughout the body. In the brain however, only the maternal copy (gene from the mother) is active due to genomic imprinting. Sometimes this gene gets deleted or lost due to genetic mutation.

  • Angelman syndrome can also arise when two copies of the gene UBE3A come from the father, instead of one from each parent, which is called paternal uniparentaldisomy; translocation can also cause this problem.

  • People who have this syndrome usually also lose the OCA2 gene (which gets deleted), and this is the cause of the light colored hair and skin. (OCA2 gene controls the facial and hair pigmentation).

  • Angelman syndrome affects 1 in every 12,000 people.


Treatments
Treatments

  • There is no guaranteed treatment for people with Angelman syndrome, however , extensive therapy is usually good to reduce the symptoms.

    Therapies to help maximize person’s development are :

  • Physical and occupational therapies

  • Communication therapy

  • Behavioral therapies

  • There is no way to prevent Angelman syndrome partly because this disease is not inherited. The genetic changes/mutations that occur are purely of chance and happen randomly. Deletion of genes on chromosome 15 are not because of the genetic make-up of the parents. History shows that people plagued with Angelman syndrome have minimal to no people have the same problem within their family.

  • Very rarely can Angelman syndrome be inherited if a mutation in a gene (UBE3A) that controls the gene activation be passed down.


Life with angelman syndrome the story of brady
Life with Angelman syndrome(The Story of Brady)

Brady is a nine year old boy suffering from Angelman syndrome. He is prescribed to numerous drugs and must take them everyday in order to prevent seizures or other catastrophes. Sometimes his med levels get too high, therefore needing to reduce the intake of some of his drugs; but this causes a problem, for he is more likely to show severe symptoms if he is not taking enough of the medicine. Furthermore, Brady is beginning to get a calice in his foot, because of walking on the inside of his foot too much. Other than these issues, Brady leads a well and happy life. Sometimes he doesn’t eat, but other times he “pigs out”, just like a naught little kid. He plays with his friends on a daily basis and enjoys the gifts that life has to offer him, despite his syndrome.

His parents and other family members try their best to make Brady’s life as happy as possible, but they cannot get over the fact that their child is at disability. Most people do not take into consideration the hardships that these little kids have to face their entire life, because they have never seen or experienced this lifestyle up close. The people that are familiar with this handicap know the struggle that people face, and therefore are more concerned and considerate about these people. Brady’s parents pray everyday that nothing goes wrong with their child and they also set up blogs to other websites to promote this syndrome to spread the prayers around for all the other people that have this unfortunate disease.

Brady


Famous people with angelman syndrome
Famous People with Angelman Syndrome

Ian Rankin

(writer)

Colin Farrell’s son, James

(Actor’s son)

Dave Henderson (Baseball pro)

Peter McDuffe

(Hockey Pro)


Bibliography
Bibliography

  • http://www.angelman.org/stay-informed/facts-about-angelman-syndrome---7th-edition/harry-angelman-and-the-history-of-as/

  • http://ghr.nlm.nih.gov/condition/angelman-syndrome

  • http://im-09-ra.blogspot.com/2009/04/schizophrenia-and-autism-as.html

  • http://www.ninds.nih.gov/disorders/angelman/angelman.htm

  • http://www.healthinmotionrehab.com/speech-therapy-at-health-in-motion-rehab.php

  • http://www.primehealthchannel.com/angelman-syndrome-symptoms-pictures-causes-life-expectancy-and-treatment.html

  • http://sweetsweetangels.blogspot.com/

  • http://www.cureangelman.org/news/Colin.html

  • http://trainerskills.com/halpotl/Angelman-Syndrome


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