A Brief Note On Prader Willi Syndrome ( Pws )

This syndrome is not very common, because it is a rare condition. Its prevalence is not certain, but the proximate amount is 5 to 10 individuals per million newborns. Research workers appraise that there are approximately 200 to 300 individuals around the world who have this disorder. It is observed with equivalent recurrence in both males and females over all ethnic groups.

Prader-Willi and Angelman Syndrome are two genetic disorders with vastly differing phenotypes linked by missing genetic imprints on the 15th chromosome’s q arm between regions 11 and 13 . While both orders result in mental deficits, their symptoms are otherwise segregated from the other in their entirety. The differences in the disorders are the result of differing DNA methylation patterns present in maternally and paternally inherited DNA. If the deletion occurs in the mother’s DNA, then Prader-Willi Syndrome appears. When the deletion occurs in the father’s DNA, Angelman Syndrome is the result.

The list of proposed chronic abnormalities is lengthy. To this date, research has confirmed the following: 1) SIDS is due to a dysfunction of the cardiac and/or respiratory systems, and 2) the death of the infant is due to hypo-ventilation of the lungs and periods of complete cessation of breathing or apnea. Hypo-ventilation and apnea cause hypo-perfusion of the tissues with necessary oxygen. Ischemia of tissues results and eventually causes death. Research now centers around discovering the cause of infant hypo-ventilation and apnea.

Angelman Syndrome was first discovered by Harry Angelman, a Physician in 1965, when he witnessed three young children who represented similar symptoms. They all had bright, happy personalities, along with stiff movements, lack of speech and seizures. While in Italy for the holidays, Harry Angelman visited a museum that showed a picture of a puppet that had the same physical appearances as his patients. He diagnosed his patients with Happy Puppet Syndrome, which would later be known as Angelman Syndrome. In 1987, Ellen Magenis, who is also a physician, identified children who seemed to have Prader-Willi Syndrome, a similar genetic disorder to Angelman Syndrome. The difference between Angelman Syndrome and Prader-Willi Syndrome, is that Angelman Syndrome can be caused by the deletion of the maternally derived chromosome 15, while Prader-Willi Syndrome is the deletion of the paternally derived chromosome 15.

AS is caused by a deletion or mutation on the maternal chromosome 15, alteration in UBE3A gene, paternal uniparental disomy, translocation, or mutation in the gene that activates UBE3A gene. PWS is a deletion or mutation on the paternal chromosome 15, uniparental disomy, or translocation. The loss of the SNORD116 gene on chromosome

Prader-Willi syndrome, (PWS) is a genetic disorder that occurs in about one in every eight thousand births in the United States. PWS occurs when there is a defect or deletion in the fifteenth chromosome from either maternal or paternal origins. Individuals diagnosed with PWS need enhanced supervision to address the constant need to over eat. Current research identifies that the paternal chromosome presents with significant maladaptive behaviors. Behavioral issues commonly known to the disorder differ dependent on the origin of the parental chromosome.

Never had an idea was what Prader Willie Syndrome and how serious is this condition. You can actually observed two individual that are diagnose with PWS but are two totally different individuals. At the beginning of the documentary you can observe that Joe was struggling being away from home and had too much anger, and Tamara have gone through a lot in her life and not having her mom support has being very hard. The program in general is a good program, which it promote healthy eating and it that aspect it has help Joe and Tamara loose the weight, but there are things that I am not in accordance with the program, if this individual have a hard time with romance relationship I don’t think they should be encourage to date. I was surprised when

At birth, children with familial dysautonomia are diagnosed by a distinct set of symptoms. (FD Facts) Poor muscle tone and lack of tears are two symptoms that can be detected very early. As they get older they have a hard time maintaining body temperature, they hold their breath for long periods of time and have a delay in speech and walking. The cause of these symptoms is due to a defect IKBKAP gene.

Noonan syndrome is an autosomal dominant genetic disease that affects facial characteristics, heart, skeletal formation, stature, and may other areas of the body. Approximately 1 in 1,000 to 2,500 people are affected by Noonan syndrome. Those affected by this disease have deep grooves around their mouth and nose area, low ears, and wide eyes. Other distinct features of Noonan Syndrome include shorter necks, excess skin around the neck, and low hairlines. A common heart defect associated with this disease is the narrowing of the value that controls blood flow from the heart to the lungs. Although an individual may be affected by this syndrome, most still have a normal intelligence. A mutation occurs on the PTPN11, SOS1, RAF1, KRAS, NRAS,

Which are coma, feeding difficulties, lethargy, seizures, vomiting, and urine that smells like maple syrup. In the urine, there will be signs of ketones. Ketones are the substances your body breaks down for energy. So, if it’s in your urine that means that your body is not getting energy from it. There will also be an excess acid in the blood. There are few treatments to this disease. Treatments involve eating a protein free diet, fluids and sugars can also be given through an IV. You also might need dialysis through your belly and veins to clear out any abnormalities in your blood. With this disease, you will need to constantly be on a very special diet. For infants, they need to be fed formula with low levels of leucine, isoleucine, and valine. While adults should avoid foods with leucine, isoleucine, and valine. The reason why dieting does help lessen the symptoms is that if you do not eat food with the affected amino acids then your body would not have the buildup of BCAAs and other substances which will cause health problems. If you do not follow the diet and take precautions it can cause neurological damage. Even if you diet like you are supposed to you are still susceptible to get the symptoms because high amount of stress and certain illnesses can cause high amount of amino acids in your body which your body will not be able to break down. This can cause

Addiction is a word that many people would associate with the body and its craving of a substance of any kind. Many individuals feel as if being dependent upon a substance is something that could be preventable and that the human body can live without. Though most substances an individual is addicted to are not needed to live a healthy life, the addiction could potentially kill that individual. Other substances such as food, one cannot live without. Food, unlike other additions, is a substance that the human body needs to survive. In recent years, there has been an upcoming epidemic regarding the obesity rate and the need for individuals to understand that lack of exercise and the increase in amount of unhealthy food is killing them. However, in some cases it may not be the lack of exercise and the unhealthy food choices alone that is keeping some individuals in a category labeled obese; conversely it could be a genetic condition keeping them that way.

A genetic disorder is a mutation in an organisms DNA. It is caused by a change in the sequencing of the nucleotides that make up a specific gene. The genetic disorder can be inherited by offspring, but it may or may not show in the offspring depending on whether the genetic disorder is a dominate or recessive allele. There are many genetic disorders that humans develop and inherit. Some disorders cause improvements within the human species while others cause severe retardation of the human species. In this paper, the genetic disorder Angelman Syndrome will be discussed.

It is said to believe that the combination of APD with another neurological disorder or a

Prader - Willi Syndrome is caused by the deletion or not getting Chromosome 15 from the dad. This disorder

Low birth weight has been associated with many health problems in infants that have survived. LBW has been associated with a number of disabilities, such as, mental flexibility, attention deficit disorders, and many more. Hospitalization is always required