Prader Willi Syndrome Research Paper

Prader Willi Syndrome
Prader Willi syndrome, or more commonly known as PWS is a disorder that causes “obesity, intellectual disability, and shortness in height” (Mayo Clinic). PWS is a not a common disorder. According to MNT, it is estimated that “one in 25,000 people have PWS in the US and it affects an estimated 350,000 to 400,000 people worldwide.” However, PWS is the most common genetic cause of life-threatening childhood obesity that has been identified to date in genetic clinics. There is not a specific population targeted by PWS; any female or male in the world can have the condition.
Prader Willi syndrome is a genetic disorder, meaning that someone with Prader Willi syndrome was born with it. Although people with PWS generally have
symptoms like intellectual disabilities and poor or delayed responsiveness, symptoms differ from early childhood to later years in adulthood. For instance, a newborn with PWS may weigh less than normal, have hypotonia, and may find sucking difficult, while a child in the ages 2 to 5 may experience unusual increase in appetite (hyperphagia), and hypogonadism. Behavioral issues do tend to get worse as the child gets older. Moreover, the most common symptoms of PWS that exacerbate as a person gets older are, sleep disorders, skin picking, and lazy eye.
Though PWS is a life threatening condition, people with it are expected to live well into their adult years, as normal, if obesity is avoided and complications are well managed.
PWS greatly impacts those who have it. PWS patients will need caregivers at all times to help them with management of hypotonia, poor feeding, obesity, and behavioral issues. Patients will also need strict meal plans and schedules to stick to. People with PWS have health complications such as risks of getting osteoporosis, scoliosis, type two diabetes, heart disease, sleep apnea, and stroke. Vomiting, high tolerance for pain and unusual reactions to standard dosages of medications are associated with PWS. Someone with Prader Willi syndrome will not feel pain until an infection is severe. Caregivers should also use the utmost caution when giving medications that may cause
sedation.
Normal body functions are affected by PWS. Prader Willi syndrome damages the hypothalamus. The hypothalamus is a part of the brain that controls sleep, emotions, appetite, temperature, and the autonomic nervous system. PWS is caused by an error or more in a person’s genes. The damaged gene can be contracted from both parents to the offspring. The exact gene that Prader Willi syndrome affects has not been detected, but geneticist have found that the problem lies in the area of chromosome 15. With Prader Willi syndrome, the damaged chromosome 15 interferes with the hypothalamus, “resulting in uncontrollable hunger, stunted growth, sexual underdevelopment and other characteristics of Prader-Willi syndrome”(Mayo Clinic).
Prader Willi syndrome is not a curable condition.
Yet, there is treatment to help patients live more comfortably with PWS. The most common treatments for PWS are growth hormones (HGH) and “caloric restriction diets”(fpwr). In 1996 the Food Drug Administration (FDA) approved growth hormone treatment for adults and in 2000 for kids. Growth hormone is injected nightly, approximately six times a week, through the skin by a caregiver or family member, just as insulin is. The restricted diet, Miller diet, was created in 2013. The Miller diet plan is used in a patient's everyday diet. The diet keeps carbohydrates and glucose to a minimum, but it also helps patients to eat food items that will allow them to feel not as hungry. Both treatments are effective, they help control obesity and help body parts develop. Side effects of growth hormones are sleep apnea, higher risk of diabetes, and pain in the body. Their are not side effects for the diets, though there are concerns of the diet not being as effective as it needs to
be.
Recent studies by conducted by Dr.Schaaf have shown that gene MAGEL2 and few others,on chromosome 15, are suspected to be the genes responsible for PWS. There has not been a new and approved treatment for PWS yet, but scientist are working on making the growth hormone injections more effective. New treatments are not tested on animals, but are tested on study groups of people who are willing to try new treatments.
Unfortunately, there is not a way for people to prevent Prader Willi syndrome, since it is a genetic disorder. However, there are methods intended to help people, who already have the condition, manage it and live life as normal as possible. The best ways to help manage PWS consist of behavioral therapy, appropriate environmental control, minimized diets, and possibly medication. Not many people are familiar with PWS leaving them with no ideas how to manage it.
Although Prader Willi syndrome is not common but poorly understood, curable, or increasing in diagnosis, it is still a good condition for a PSA. Prader Willi syndrome is the most common cause of childhood obesity genetically! However, not much is known about the disease, and patients are often misdiagnosed or overlooked because of the lack of physical abnormalities one with PWS could have. Presenting the facts and symptoms of PWS publicly will likely increase the amount of patients diagnosed with PWS because information about symptoms and complications will be readily available. Let it be known that Prader Willi syndrome is real and that children affected by it are not just being “greedy” or “bad.”