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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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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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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s Rett’s Syndrome Website: http://understandingrettsyndrome.webs.com History Rett Syndrome is a developmental disorder experienced almost always in girls‚ and is first recognized during infancy. Before the discovery of this disorder‚ incidents of Rett Syndrome were mistaken for many other neurologic disorders such as Autism‚ Cerebral Palsy‚ or Nonspecific Developmental Delay‚ especially in females. An Austrian physician‚ Dr. Andreas Rett‚ first described this
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Down Syndrome Down syndrome is a genetic condition that typically causes some level of learning disability and a characteristic range of physical features. Most babies born with Down’s syndrome are diagnosed with the condition after birth and are likely to have: reduced muscle tone leading to floppine eyes that slant upwards and outwards a below average weight and length at birth Although children with Down’s syndrome share some common physical characteristics‚ they do not all look the same
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Marfan Syndrome Have you ever wondered about the diseases that you can get from your parents? One of these major diseases that can change someone’s life is called the Marfan Syndrome. Marfan Syndrome is a disorder of connective tissue that is inherited from the parents. The bones and circulatory system are usually the parts of the body that are longer and the ones that are changed because of the disease. There are many things that can cause a disease. Marfan syndrome is caused by a mutation
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Down Syndrome What is Down Syndrome? Where does it come from? Is there a cure? About one in every 800 American babies is born with Down syndrome‚ and it is estimated that about 350‚000 people in the United States‚ and just under 6 million people worldwide live with this condition today. There is a false impression that pregnancy screening has eliminated or substantially reduced the incidence of Down syndrome in the population. Despite years of screening‚ the Down syndrome population in the
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one of my younger sisters‚ and she has Down’s syndrome. I was young when my parents found out that they were going to have a child with Down’s syndrome‚ and we weren’t sure how things would be for our family or for Haley. As I grew up I came to realize what the next lifetime with her as a sister would entail. Today Down’s syndrome is a common disorder in the United States‚ about 1 in 830 or 4‚700 annually. Many people are unaware of what Down’s syndrome actually is‚ the health issues that may accompany
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Asperger’s Syndrome In today’s society‚ Asperger’s Syndrome is being talked about‚ and seen‚ more than ever‚ from television shows‚ such as Parenthood‚ to magazine articles‚ and of course in the inclusive classroom. Throughout this paper we will be looking at where Asperger’s Syndrome originated‚ some of the characteristics and causes‚ as well as ways in which teachers and parents can better deal with a child that has Asperger’s Syndrome. Asperger’s Syndrome is found under Autistic Spectrum
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Turner Syndrome Allie Fitzgerald BIOL 150 11/22/11 Turner syndrome (TS) is a genetic condition in which a female does not have the usual pair of two X chromosomes (“What is TS?”). This condition was named after Dr. Henry Turner‚ who was one of the first researchers to describe the features of Turner’s Syndrome in 1930s. TS occurs in about 1 female out of every 2‚000 female births‚ but is much more common in miscarriages. A diagnosis of TS is made through a karyotype test. This is performed
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