Prader-Willi SyndromPrader-Willi Syndrome is a serious genetic disorder that begins at birth with no known cure; causing mental retardation, short stature, low muscle tone, incomplete sexual development, and its main characteristic, the desire to eat everything and anything in sight. Prader-Willi syndrome was first known as Prader-Lab hart-Willi Syndrome after three Swiss doctors who first described the disorder in 1956. The doctors described a small group of kids with obesity, short stature and mental deficiency, neonatal hypo tonia (floppiness) and a desire to constantly eat because they are always hungry. Many other features of PWS have since been described, but extreme obesity and the health problems associated with being fat are the most prominent features.
Individuals with PWS have some but not all of the same features and symptoms. PWS is a birth defect. A defect in the hypothalamus, a region of the brain, is suspected to be the cause. The hypothalamus determines hunger and satiety.
Theycan’t fell satiety, so they always have a urge to eat. Some PWS cases are so out of control that will eat bottle caps, glass, pencils, garbage, bugs, dog food, and anything else they can stuff in their mouths.’ The ingenuity and determination of PWS children in surreptitiously obtaining edibles is almost legendary and belies their cognitive defects. Serial weighing may be the only way to discover whether such a child is, in fact, stealing food’ (Fine, 1983).
The Essay on Pws Info Letter Willi Syndrome
Dear Parents, I am writing you because I was informed that you have a child with the Prader-Willi Syndrome (PWS). I have recently been researching this disorder and want to give you some information about it that you may not yet know and suggestions that may help in maintaining your child's health and safety. Prader-Willi Syndrome is a two-stage non-hereditary genetic disorder that occurs in both ...
PWS occurs in about l in 10, 000 births. It occurs in both males and females equally and is found in people of all races and all nations.
It is one of the ten most common conditions seen in genetics clinics. Young people with PWS resemble each other very much. Most of the time, they look like brother and sister. Most of PWS people have almond shaped eyes, narrow foreheads, down turned mouth, thin upper lip and a small chin.
Other common features are: obesity, they may be short; they have small hands and feet; have skin picking habit, thick and sticky saliva, incomplete sexual development, a curved spine (scoliosis), and chronic sleepiness. PWS patients also have similar personalities: talkative, friendly, extreme attempts towards getting food, , repetitive thoughts and behavior, stubbornness, frequent temper tantrums, and sometimes sudden acts of violence. Most people with PWS have some degree of mental deficiency. The average IQ of people with PWS is 65, and it ranges from 20 to 90. 41% of PWS people have IQs in the normal or borderline range.
Specific academic weakness in math and writing are common, but reading and art are considered strengths. A delay in getting to early developmental milestones is common in PWS. The average IQ testing shows that people with PWS are mildly retarded, the range is from severely retarded to not retarded, with 40% having borderline retardation or just a low normal intelligence. Most affected children, besides their IQ scores, will have many, severe learning disabilities, and will show poor academic performance no matter what their IQ shows to their mental abilities. There are many signs and symptoms of PWS that show up before birth. some are decreased fetal movement in 80-90% and having an abnormal delivery in 20-30%due to having a really floppy baby.
There are two distinct clinical stages ofPWS. Stage 1 Babys with PWS are called ‘floppy babies’ a lot. Thats because they have weak muscles, officially it is known as hypo tonia. This hypo tonia, which almost always occurs, could be mild to severe.
Neonatal hypo tonia makes sucking difficult, and a special feeding method called a gavage is used. A gavage the placing of a tube into the stomach through the mouth. They use it during the first days of life a lot… Decreased caloric intake from the special feeding difficulties may lead to failure to gain weight. To keep the baby’s weight under control supervision by a professional nutritionist or a specialist who understands the syndrome might be necessary. Physical therapy is strongly recommended to improve muscle tone.
The Essay on People often complain about life in the U.S.
People complain when most of their needs are not met. The irony of it lies when complaints are just piled up without any further insights on how to solve such problems. In the long run, complaints become a part of the lifestyle of people who are good at pointing at the loopholes most especially of the government, and of the leaders. As there would always be a reason for every action that is done, ...
When the muscle tone improves enough, an increased appetite and weight gain starts. The beginning of the second stage has begun. This not progress and begins to improve between 8 and 11 months of age in most cases. It improves, but it is never completely normal. Stage 2 Stage 2 occurs between one and two years of age and is characterized by an appetite that can not be satisfied which causes excessive weight gain.
Speech problems, sleepiness, decreased pain sensitivity, skin picking habits and decreased growth are also characteristics of the second stage of PWS. The personality problems develop between ages 3 and 5 years also. Most parents who have a kid with PWS do not have another kid affected with PWS. The cases of PWS are thought by scientist to have occurred by chance in isolated flukes of nature.
But, there have been reports of families with more than one kid with PWS, but it is not common. Fewer than a dozen families with more than one affected offspring have ever been reported. A blood sample for high resolution chromosome analysis is drawn on anyone who is though to have PWS. This will check out the chromosomes. Chromosomes a repackages of information found in the cells of our bodies. Each cell has a set of 46 chromosomes, which come in pairs numbered from 1 to 23.
Parents contribute with one chromosome from each pair. Okay, now Prader-Willi Syndrome is caused by the absence of some genes on one of the chromosomes that affect the the hypothalamus. Many laboratories around the world are researching this. About three-fourths of people with PWS have a tiny piece missing from one member of the pair of chromosome fifteens (the one inherited by the father).
The other one fourth are missing the dads contribution to this part of the chromosome by missing all of the fathers chromosome fifteen and having two copies the mother’ fifteen.
The Homework on Why Do We Sleep?
As we all know, one third of our life is spent to sleep, but very few people intend to lay bare the secret of that. There would be a question: why do we sleep? According to the video “The Function of Sleep”, Tyson states that people are not very clear about the purpose of sleep, but some researchers believe that sleep could enhance memory. MIT researcher Matthew Wilson also illustrates ...
The genes in this region are not functional and why. As soon an the kid has improved muscle tone, and has increased its appetite, and is old enough to get move on the floor, than any food that can be easily gotten must be moved to a safer, out-of-reach place. To make inappropriate “food ” unavailable to the kid with PWS, parents must learn special patterns of food storage and handling Sleepiness during the day and napping a lot are some of the common features ofPWS. Recently, studies have show that there is a strong link between this and sleep quality. Some of the types of sleep disorders that have been described in PWS affected people are: disturbance to the sleep wake cycle, obstructive sleep apnea, hypo ventilation syndromes and narcolepsy. Although patients with PWS fall asleep very quickly, their sleep period is significantly disrupted with frequent awakenings and abnormal patterns of rapid eye movements sleep (rems).
Obstructive sleep apnea occurs with increased upper airways resistance, either from enlarged tonsils, relaxation of the upper airway musculature, or from structural airway anomalies. Sometimes actual pauses in breathing during sleep can occur… Narcolepsy, which involves sleep attacks and occasional loss of muscle tone, Short stature is also a common feature of almost all PWS affected people (80-100%), but birth height is usually normal. The average adult height is 59 inches in women and 61 inches in men. Abnormal growth hormone response suggests a possible dysfunction of the hypothalamus and, growth hormone deficiency as a contributing factor in short stature. Improvement in growth rate and decreased rate of weight gain have recently been demonstrated in several growth hormone-deficient children with PWS after six months of growth hormone treatment Other significant actions of growth hormone that have been reported is an improvement of muscle mass, muscle strength, energy expenditure, bone mineralization, sexual development, and also a decrease in fat mass, have led to further investigations in people with PWS.
The Research paper on Eating habits chapter 1
At home, at work or at school, in a restaurant or in a fast-food take out. Batangueños can choose from an ever-increasing variety of foods. Grocery stores offer an abundance of imported products, along with frozen meals that can be ready in minutes to satisfy the needs of time-crunched households. Fresh fruits and vegetables once considered exotic are now available throughout the year. In the ...
Children with PWS have distinct behavioral abnormalities because of all the frustrations associated with the syndrome. These behaviors may begin as early as two years of age. They will get a variety of different eating behaviors like foraging for food, secretly eating large amounts of food, and other attempts to continue eating. Other problems include verbally and physically aggressive behaviors such as lying, stealing, scratching and skin picking.
Tantrums and unprovoked outbursts are common among children and youths with PWS. People with mild cases of PWS can do many things their normal peers can do, such as go to school, get jobs, and sometimes even move away from home. However they need a lot of help. Kids going to school would need to be enrolled in special education programs (Otherwise they’d be eating their pencil and paper).
They need to be constantly supervised.
