Research Paper 2: Angelman Syndrome Angelman Syndrome (AS) also known as Happy Puppet Syndrome was originally founded in 1965 by an English physician named Dr. Harry Angelman. (NORD 1) According to the Genetics Home Reference‚ “AS is a complex genetic disorder that primarily affects the nervous system”.While exact numbers are unknown due to the fact that some cases are misdiagnosed as cerebral palsy or Autism‚ it is believed that about 1 in 15‚000 people have AS‚ ( Genetics Home Reference 2)
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was 1984 in Springfield‚ Oregon when Diane Downs was convicted of shooting her three children‚ ending the life of one. Diane Downs was mentally unstable and obsessed over a man who did not want her. What was a peaceful and calm night quickly turned into a fight for survival. Downs had shot her three young children at close range in an attempt to win back the affection of the man she so desperately loved... Crime Nothing could have prevented the Downs children from meeting an unfortunate fate with
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Exceptionality Report: Angelman Syndrome The Exceptional Child Andrea Gamber-Smith Dr. Harry Angelman discovered the disease that came to share his name‚ Angelman Syndrome in 1965. Angelman syndrome is impossible to diagnose until approximately the age of three to seven when symptoms become evident. The features of Angelman’s syndrome include a stiff body‚ little or no speech‚ constant giggling or laughter‚ and an easily excitable personality. There are
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Perception‚ and Social Behavior in People with Williams Syndrome Jocelaine PresenDieu Columbus State University Abstract This paper explores three aspects of Williams syndrome. Williams syndrome is a rare developmental disorder caused by the microdeletion of genes from chromosome 7q11.23 (Mervis‚ 2003). The microdeletion is evident in almost all individuals with Williams syndrome so is the personality characteristic. Individuals with Williams syndrome are social‚ easily distracted‚ overly friendly
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Diarmuid Sugrue Angelman Syndrome SYMPTOMS Angelman Syndrome is a neuro-genetic disorder involving the chromosomal region 15q‚ between positions 11-13. The symptoms primarily include intellectual development retardation‚ epilepsy‚ speech impairment‚ ataxia‚ and persistent laughing or smiling. CAUSATIVE MUTATIONS A healthy individual receives 2 copies of the 15 chromosome‚ one maternal and one paternal. The chromosomal region 15q11-13 (base pairs 23‚133‚488-23‚235‚220)‚ contains the gene
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The book‚ “Watership Down‚” written by English Author Richard Adams‚ tells an unusual story about a group of talking rabbits in a warner. One of these strange talking rabbits has a vision of the warner be destroyed by something. He apparently has a rabbit brother and they both go talk to the chief rabbit about evacuating from the warner. Their efforts are shortened and fail as the chief is unwilling to listen. The two unusual talking rabbits decide to set out on their own with a small band of rabbits
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Down the River Edward Abbey’s essay Down the River reveals his strong belief that the existence of life revolves around nature itself. Abbey conveys these views through syntax‚ imagery‚ and his choice of structure. Abbey’s varying detail and syntax in the first half of the passage conveys an amazement toward nature. He states while gazing at the lion that there was a “mutual curiosity: [he] felt more wonder than fear”. His unexpected reaction to the mountain lion when they shared
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will try and establish some theories on what might have caused this mother to commit such a criminal act. I feel that I should first give some background on what we will be discussing. I have chosen to do my paper on a female murderer named Diane Downs. She was convicted of murder‚ attempted murder‚ and criminal assault for the shooting of her three children. The incident took place on Thursday‚ May19‚ 1983 in Springfield‚ Oregon at approximately 10:48 p.m. She was driving a red Nissan that had Arizona
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In light of the description of anthropomorphism‚ I think it is only fitting to use the novels Charlotte’s Web and Watership Down to demonstrate them. While both of these novels show animals behaving in different manners‚ they are both uncharacteristic of normal animal behaviour. Charlotte’s Web shows animals behaviour as primarily human while Watership Down demonstrates animals behaving mostly as animals. This said‚ we see that both these novels show their characters with human traits‚ however
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Hunter Syndrome Hunter syndrome is a rare genetic disease that almost always occurs in males. This incurable disease is also called mucopolysaccharidosis II (MPS II). This disorder is caused by the deficiency of the lysosomal enzyme iduronate-2-sulfatase (I2S). This enzyme is needed to successfully break down glycosaminoglycans‚ as part of the body’s normal recycling and renewal process. In a person with Hunter syndrome‚ enzyme I2S is missing or not working correctly. It is the accumulation
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