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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Art syndrome is a disorder that affects the neurological system. It most commonly affects the boys of families with the inheritance trait. Females are affected as well‚ however‚ not as severe as the males of families. This disorder is significant not only because it is rare but because it is interesting that the disease causes more difficulties and problems in the males than in females. A fact that’s most commonly ask when introduced to this amazing‚ special‚ yet rare neurological disorder. To
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The primary intervention in the management of dysmetabolic syndrome consists of lifestyle modifications such as cessation of smoking‚ healthy eating of calories restricted diet and increase in physical activity (Falentin‚ 2010). In dysmetabolic syndrome‚ the main emphasis is on reducing the individual risk factors especially in patients identified as high risk of cardiovascular disease and T2DM. Riediger and Clara (2011)‚ state the importance of doctors using a screening tool for other risk factors
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Jacob’s syndrome 2 Anatomy and Physiology: Jacob’s syndrome Over the past 40 years people have been aware of Jacobs’s syndrome‚ a rare chromosomal genetic syndrome which occurs when a male receives an extra Y chromosome‚ resulting in a sequence in XYY. Males normally have XY and females normally have XX sequencing 1. Chromosomes store genetic information in all human beings. There are 23 pairs of chromosomes and 46 in total. On the 23rd pair holds the sex chromosomes which also store genetic information
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published the first report on the symptoms of Turner Syndrome. It was published as “A Syndrome of Short Stature‚ webbed beck and infantilism”. It was a report on seven girls who shared similar features to each other. Dr. Turner helped with the advancement of treatment for the girls with the syndrome. He did this by pioneering the use of exogenous sex steroids for treating ovarian failure (“Years of Medical Advances in Turner Syndrome”) . Today‚ Turner Syndrome occurs in 1 in 2‚500 females worldwide. 15% of
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Cushing’s Syndrome Cushing’s Syndrome is a hormone disorder caused by the body tissues being exposed to high levels of the hormone cortisol for a long period of time. The disease is commonly caused by taking corticosteroid medicine in high doses over an extended period of time. The condition can also be caused by the body’s excess production of cortisol due to an overactive adrenal gland. It is a rare disease that mostly affects adults between the ages of 20 to 50. Females are more likely
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Rett Syndrome for Girls Only Rett syndrome is very rare neurological disorder that affects the brain. The disorder primarily effects girls only‚ but there has been reported cases of males with the disorder. The disorder is rare‚ it effects one in every 10‚000 to 15‚000 females‚ in all racial and ethnic groups. Rett syndrome effect one in every 100‚000 males. Rett Syndrome impairs the child’s speech‚ motor functions‚ daily activities‚ and respiratory functions. Rett Syndrome is usually diagnosed
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Written assignment - "The fun they had" "The fun they had" is a science-fiction short story written in 1951 by Isaac Asimov. The text has its focal points on the human behavior as a response to the development of technology - human dependency of technology and how it has become a necessity in order to live a normal life. The text expresses‚ how the progression of technology have lead to the closed and therefore more "efficient" school system that Margie is a part of. As she reads the "real" book
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(CPD) date was 01/29/2003. The SSA granted disability benefits because of borderline intellectual functioning and pervasive developmental disorder. She had a history of Apert’s syndrome
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the disease. Progeria Research Foundation also funds medical research that is specifically aimed at finding the cause. Treatments and cures for this syndrome are more reasons that the foundation funds research for the disease (How PRF was formed). Progeria is an outcome of a fault in the Lamin A(LMNA) gene (Hutchinson-Gilford Progeria Syndrome 2012). The LMNA gene has codes that are for two proteins‚ Lamin A and Lamin C. These proteins play a big role in stabilizing the inner membrane of
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