The Succinct Story of Prader Willi-Syndrome
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Prader-Willi syndrome is a rare genetic disorder discovered in 1956 by 2 major people. Andrea Prader and Heinrich Willi, in which seven genes are deleted or not expressed due to a problem on the 15th chromosome. This disease affects one in ten thousand births. This disease shows symptoms from when unborn all the way to adulthood, with many signs from each period of life,
Understanding the genetics behind this disease:
A process called imprinting plays a role in this disease. Most genes have two sources, the mom and the dad, but imprinted genes only have one working copy. It may be either the mom or the dad but one gene is silenced. Silencing can occur during the sperm and egg formation. Now although we need imprinting, we usually have one active copy, improper printing causes two active copies or two inactive copies, which causes the genetic problem. An illustration of imprinting can be seen at the bottom of the page.
Prader-Willi affects the neurological aspects of a person as well as psychical. Some signs are reduced fetal movement and frequent abnormal fetal position while still in the uterus; it is often a C-section birth with a problem with the muscle tone which leads to a hard time feeding because of the sucking reflex being a problem as well and a hard time with respiration. Signs in an infant are failure to thrive, an abnormal amount of sleeping, not developing properly along the lines of intelligence, walking. This disorder is known to cause obesity because of a chronic feeling of hunger that, coupled with a metabolism that utilizes drastically fewer calories than normal, can lead to excessive eating. This lasts throughout the person’s life, the disruption of the hypothalamus(which plays a role in hunger and water regulation) is said to be the reason for this. A speech delay is noted in childhood and poor appearances due to the hypertonia (weak muscles).
Around adolescent, short stature is seen coupled with delayed puberty with severe obesity from the eating. Adulthood is usually the same but with infertility added. Learning difficulties are seen on a wide range from some at the very low end of the scale, 35, to 15 IQ points below average, which is said to be 100. A compelling fact is that Children with PWS show a distinctive cognitive profile. They are often strong in visual organization and perception. This includes reading and vocabulary, but their spoken language is generally poorer than their comprehension. People with this condition have been noted to do very well on Jigsaw Puzzles.
Behavior wise, patients can be at a higher risk for problems such as anxiety, hallucinations and other psychiatric conditions. Prader–Willi syndrome is often misdiagnosed as other syndromes due to ignorance or the fact that many don’t have experience of seeing it. Sometimes it could be misdiagnosed as Down Syndrome. The main way of figuring it out is from genetic tests. DNA-based testing to detect the absence of the paternally contributed Prader–Willi syndrome/the sister condition Angelman syndrome on chromosome 15. The presentation of hypertonia, short stature, obesity, behavioral issues (OCD-like behaviors), small hands and feet, hypogonadism, and mild mental retardation that would provoke genetic testing which would lead to a diagnosis.
The earlier it is caught, the better, because with early diagnosis and prompt treatment (such as with growth hormone therapy), the prognosis for persons with PW is beginning to change. Like autism, PW is a spectrum disorder, and so symptoms can range from mild to severe, and may change throughout the person's lifetime. Various organ systems are affected as described initially. There are various treatments available though; each tailored to each part of the patient’s life starting from infancy, therapy for the muscles and speech, during school, a highly structured learning system with added help is strongly helpful, the hardest problem to deal with is the hunger feeling which can lead to morbid obesity which leads to new problems, such as diabetes, or several other conditions as the age advances. The short height is combated with daily shots of human growth hormone which may also suppress some of the other problems. This disorder was shown on the show My Deadly Appetite and Ethan Starkweather, who was on Extreme Makeover: Home Edition. Technology is always rapidly advancing, with more time allocated to genetic research, one day faulty genes could be repaired or added where there are missing to help people with disorders as this.
"Prader–Willi Syndrome." Wikipedia, the Free Encyclopedia. Web. the < >ttp://en.wikipedia.org/wiki/Prader–Willi_syndrome#Signs_and_symptoms>.
"What Is Prader-Willi Syndrome?" Prader-Willi Association (USA). the < >ttp://www.pwsausa.org/syndrome/index.htm>.