Prader-Willi syndrome or PWS, is not a disease many people have knowledge about, or have even heard about it. Only about 1 in 25,000 children are born with this rare syndrome. In 1956, Prader-Willi was first described by Andrea Prader, Heinrich Willi, and Alexis Labhart. Prader and Willi, both Swiss pediatricians, and Labhart, an internist, were the first people to publish a report on this syndrome (Nord, 2015). In the research, they described characteristics observed of the affected children.
Fetal activity, difficulties in feeding, underdeveloped sex organs, and short stature were amongst the long list of abnormalities seen in these children. In addition, psychological impairments and an increased risk of diabetes were found as patients aged. As years passed, discoveries were found progressively. In the late 1960’s, a report, known today as Prader- Willi syndrome, led to various other studies that remains the foundation for doctors today.
We began to realize that there was a group of children with identical symptoms and findings and a typical developmental pattern forming a syndrome which had not been described previously,” Andrea Prader said in a National Prader-Willi press conference in 1984 held in Minnesota (Nord, 2015). GENES Prader-Willi syndrome is categorized as a mutation on chromosome 15. Typically people inherit one copy of a chromosome from each parent, but in this case only the paternal copy is inherited. This syndrome is present when a segment of the paternal chromosome is deleted in each cell in an individual.
In other cases, patients inherit two copies of the maternal gene instead. This is what is known as maternal uniparental disomy. PWS will occur when the genes on chromosome 15 are not present. A region on this chromosome has been named the Prader-Willi syndrome/Angelman syndrome region since this is always the non-functioning region in all PWS patients (Mascari, 2015). Specifically, genetic factors are changes when Prader- Willi is present. Epigenetics (explain) are also studied, which is what the gene primarily expresses.
Predominantly, three abnormalities are associated- chromosomal deletion, uniparental, disomy and genetic imprinting errors. Genetic imprinting is controlled methylation which is the chemical process of turning genes on and off. In patients, both genes from each parents is “turned off” therefore affecting the importance of the specific gene. Defecting imprinting can explain Prader-Willi syndrome, and various other diseases (like what) (Foundation for Prader-Willi Research, 2015). In a smaller amount of cases, the translocation of genes can be seen.
This is evaluated as a part of one gene is rearranged into another gene. Not only does this affect the individual, but the carrier has an increased chance of transferring the same occurrence to their offspring. There is a loss of function that is solely dependent on the genes from the missing segment, which poses many complications. The genes provide instructions to make molecules called RNA. Ribonucleic acid has many jobs including, coding, decoding, regulation and expression of genes. Research shows the loss of RNA plays a significant role in the symptoms of Prader-Willi syndrome.
The genetic changes of the genes occur randomly during the formation of the reproductive cells in embryonic development. There is normally no history of the disorder in the generations prior to the affected child (Chevalere, 2015). PWS affects the same amount of females and males and does not occur more in one gender. Also, people of all ethnic backgrounds have equal chances of becoming a PWS patient. 2 SYMPTOMS Symptoms vary entirely on the patient, and can differ greatly. Signs can come suddenly, or persistently become more noticeable over time.
It is important to understand not all people have the symptoms mentioned, and each Prader-Willi patient has a specific prognosis and plan to follow once diagnosed. First, an infant will experience hypotonia, or poor muscle tone and will result the baby to feel limp. Infantile hypotonia is almost certain is all cases of Prader- Willi Syndrome. Prenatal hypotonia may be present, forcing the possibility of an assisted delivery. Various observations are made of the baby once birthed. If the baby is unresponsive to actions, performs little to no cries, and has feeding complications, hypotonia is most likely present (Nord, 2015).
Between the ages of 2 and 4, the patient’s weight increases and appetite increases. Once the child hits ages 6 to 8, appetite increases and a need to eat a large amount of food becomes severe. Patients develop satiety, a feeling of never being satisfied after finishing a meal. In addition, there is a decreased level of calories a PWS patient can intake, and without surveillance and control at all times, obesity and weight gain can takeover quickly. Since the want to eat becomes unbearable at times, individuals will go to extreme measures to do whatever possible to eat more.
Some individuals will hoard food, binge eat, steal food or even steal money to buy food. As the regime of diet is strict within a PWS patient, eating more than usual can result in complications like gastric dilation, or even a tear in the abdominal wall. (Nord, 2015). DEVELOPING DIFFICULTIES Obesity has the potential to lead to extremely serious problems in a PWS patient. Diabetes, high blood pressure and lung complications are all things a patient may never be able to recover from once deemed obese.
Not only does PWS affect your physical state, but also their emotional state. Children suffering with this syndrome have learning disabilities as well. Impairment varies mild to moderate, as some patients have delayed speech and cannot execute regular tasks on a daily basis. ADD MAYBE MORE(Chevalere, 2015). Affected children tend to have caring and loving personalities. As they grow older, behavioral issues arise. Temper tantrums, manipulative behavior, and obsessive/compulsive behavior are only some conditions children might face.
Doctors have done research to relate Autism to PWS. In approximately 15% of young adults with Prader-Willi, psychosis transpires (Nord, 2015). As previously mentioned, function of sex organs decreases. In a female with PWS, sex organs fail to produce sex hormones which eventually leads to underdevelopment puberty. Also, absence of menstrual cycle in a female is common. In males, undeveloped sex organs and failure of the testes are seen in the early stages of diagnosis. Infertility and puberty is greatly influenced due to these characteristics (Nord, 2015).
Due to the weight gain, scoliosis is common and can be extremely disturbing to patients. There are many cases that patients have trouble sleeping due to body difficulties. Excessive daytime drowsiness cause patients to act sluggish and lackadaisical. Sleep apnea also may be prevalent, starting typically at ages 30 and above (Cohen, 2012). PHYSICAL APPEARANCES Evidence is visible in the face of an affected infant. Features including almond-shaped eyes, thin lips and an abnormally narrow head can trigger suspicions in a doctor (Mascari, 1992).
According to studies, PWS patients may experience abnormally small hands and feet. This feature causes many doctors immediate concern. In addition, there are about 10% of individuals with a malformed hip. TREATMENT /INSTITURE Like mentioned before, PWS is an incurable disease. Although, patients will benefit from a supervised diet. Many parents take responsibility, and are fully committed to helping their child fight this disease, and one day live a healthy life. Some parents take more careful measures, and find programs with medical professionals to place their children in.
In a small area close to Downtown Pittsburgh, there are multiple Prader-Willi patients being cared for in The Children’s Institute. In this building, affected people are admitted in hopes of helping this incurable disease. Doctors, and nurses care for these people and have various programs to treat this syndrome as much as possible. The diet and nutrition in patients is extremely significant, which is why the Red-Yellow-Green Weight Control System was developed. This system is individualistic to each patient and is much easier to understand than a calorie-counting diet.
Each color represents a food group. Similar to a traffic light, the red means stop, yellow means slow down, and green means go. Essentially all patients are able to have second servings of food that are categorized in the green group. The yellow group contains foods that are high in nutrition but also in calories. Lastly, desserts, and high fatty foods are in the red group. Generally each patient is allowed one red color food a day. This system has proven its success over the past couple of years, and studies show weight loss is highest when using this method (Amazingkids. org, 2015).
