Angelman syndrome is a genetic disorder that cause developmental delay and neurological problems. There is sometimes sleep disturbances‚ seizures‚ jerky movements‚ frequent laughter or smiling and usually always happy. The people that have this tend to not use many words‚ or none at all. Most likely they are very hyper and have little balance. An older term that people use to use would be‚ happy puppet syndrome‚ but it is no longer an accepted term. When people have Angelman syndrome‚ they appear
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response of the hospital staff to their Down syndrome baby‚ “Instead of congratulations‚ we were told‚ “I’m so sorry.” In place of flowers and balloons‚ the hospital sent a chaplain” (para. 8). He goes on to describe the beautiful life that his daughter‚ who struggles with Down syndrome‚ lives. He also quotes Alberto Costa‚ associate professor at the University of Colorado Denver School of Medicine‚ responding to new tests that could reveal Down syndrome in unborn children‚ ‘The parent in me definitely
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Tourette Syndrome was first described by a French doctor named Georges Gilles de la Tourette. (Joseph‚ Kidshealth) The disease can be very hard to control depending on the severity. It can cause repetitive movements or sudden jerks such as excessive eyeblinking‚ or shrugging your shoulders and even head jerking. Tourette’s can also can cause you to say unwanted things such as offensive phrases/words or blurting out random words‚ which are typically called tics. (Tourette Syndrome‚ Mayoclinic) Tics
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Genetically transmitted disease Down syndrome Down syndrome is a genetically transmitted disease‚ the symptoms of this disease can vary depending on the person‚ but children with Down syndrome have unique physical characteristic traits for example: decrease in muscular tone‚ excess skin around the nape‚ widened nose‚ among others. Some mental characteristics are: impulsive behavior‚ short periods of attention and slow learning. Some of the disease’s effects are: pulmonary hypertension
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Acute Respiratory Distress Syndrome In the field of respiratory therapy‚ we are the fighters that must preserve the breath of life. The battlefield we wage war on is riddled with many diseases and hardships for us to help our patients overcome by any means necessary. One of the main heavy hitters in this battle is acute respiratory distress syndrome (ARDS). This condition is very deadly and is a tough opponent that must be defeated. ARDS is a dangerous condition affecting a vast group of patients
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The disease I chose was compartment syndrome because it’s very rare‚ fewer than 20‚000 US cases per year. Compartment syndrome is when a very dangerous and very painful condition cause from pressure builds up from internal bleeding or swelling of the tissues‚ the pressure decreases blood flow‚ depriving muscles and nerves of needed nourishment. The cause of this disease is often causes by injury‚ such as a fracture‚ that causes bleeding in a muscle which then causes increased pressure in the muscle
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Klinefelter’s Syndrome “Harry Fitch Klinefelter specialized in endocrinology and rheumatology (weak bones) and through his studies Klinefelter’s syndrome was described in 1942‚” (Encyclopedia Britannica). The diagnosis of the patient is usually done at a young age through a series of many tests‚ one in which the doctor finds if the patient has two X-Chromosomes and one Y-Chromosome. As a random genetic mishap during the formation of the fetus‚ Klinefelter’s has many symptoms. The treatment is not
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Turner syndrome is named after Henry Turner who‚ in 1938‚ was one of the first doctors to report on the disorder in medical literature. Turner syndrome is one of the most common chromosomal disorders and is one of the most common genetic disorders found in females‚ it is a rare chromosomal disorder that affects only females. This condition occurs in about 1 in 2‚500 female births worldwide‚ but is much more common among pregnancies that do not survive to term‚ like miscarriages and stillbirths.
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capability of adolescent and adult participants with Williams Syndrome to obtain conceptual change concepts with an empirical approach. These 10 participants with William Syndrome were compared to a few groups of normal developing children with respect to biological knowledge about people‚ animals and plants. The experiment’s final results ended in an engrossing sum of information that effected in the participants with Williams Syndrome being differentially impaired on conceptual change for construction
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Everyone knows about Autism‚ and Down syndrome‚ and mental retardation‚ but why not savant syndrome? Well actually most of you have heard about it. You have all heard of Kim Peek‚ or at least sort of. Kim is an autistic savant with eidetic memory (the ability to recall images‚ sounds‚ or objects in memory with great accuracy
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