Essay On Prader Willi Syndrome

There are some misconceptions of obesity. It may often be mistaken for being overweight, meaning weighing more than you should. Instead, obesity is a chronic illness that refers to having too much body fat. Although, both concepts mean that your child has exceeded what is considered to be healthy for his or her age and height. Another misconception is that a child carries an ‘obese gene’.(Cohen, 2013). Where it is believed that children were born to be obese because there are obese people in their family. Although that it is not true, it is true that children with obese parents have a higher chance of being obese as well. It is not because of the ‘obese gene’ though, it is because they follow the same unhealthy lifestyle behaviors as their parents. Also, another misconception is that the lack fruits and vegetables is the reason for the obesity epidemic. Rather, this epidemic comes from the choices people make. People may head to the

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Symptoms. Prader-Willi syndrome presents symptoms beginning in utero, where the fetus is less active than one without the

In the St. Louis, the state of Missouri, by 2008, the state ranked the 27th in overall prevalence of obese numbers in children. According to the 2008 Pediatric Nutrition Surveillance System (PedNSS), 30% of low income children aged between 2-5 were overweight in Missouri. This all started in 2003 when the rate of children falling obese continuing to rise. According to a study done by Christina, about 43% of children in the United states have at least 1-2 chronic heal conditions which increases to a 54.1% when the child is overweight. This shows that being obese also increases the risks of fatality of an illness in an individual. A different study done by (Kamath, Celia et al 4615) revealed that prevention of the condition is better than trying to manage the condition as pediatric efforts do not play a huge role in reducing the BMI and changes are seen after a very long time. It however can be helpful to those who already had the condition for instance the children who have inherited the condition can be helped through pediatric efforts to manage themselves and maintain their health.

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.

The most challenging medical diagnosis I have been introduced to is isodicentric chromosome 15 syndrome. This syndrome occurs in about 1 in 30,000 newborns and is a result from having an abnormal extra chromosome in each cell. The chromosome has mirror-image segments instead of a different segment at each

ABNORMALITIES: The abnormalities regarding growth are- Prenatal onset of marked growth deficiency. Average birth weight at term is 1543g (1000 to 2005g) Mean postnatal growth is 1543 deficiency is -7.1 SD +/- 2.08. One adult was 104 cm. Delayed bone age. Genitalia showing Cryptorchidism. In Craniofacies abnormalities are: Microcephaly with secondary premature synostosis. In one-half of cases, head circumference is more retarded than height, while for the remainder it is as retarded as height. Receding forehead. Prominent nose, micrognathia, low- set malformed

Prader-Willi syndrome(PWS) is a disease caused by spontaneous genetic mutations in chromosome 15 which is evident in the early development of a fetus. Specifically, there is a deletion or a loss of genes from that chromosome. Dr. Prader, Dr. Willi, and Dr. Lambert were the first people to describe the features of PWS in 1956. Since that first time, more and more information on Prader-Willi syndrome has begun to be understood (Encyclopedia, 2016). This genetic disease is capable

Prader-Willi syndrome (PWS) is a complex genetic disorder caused by a chromosomal abnormality. It is characterized by mild to moderate hyperphagia, severe obesity, intellectual disabilities, and behavioral and psychiatric difficulties. Characteristic behavioral disturbances in PWS include excessive interest in food, skin picking, temper tantrums, obsessive and compulsive behaviors, and mood fluctuations. It occurs in approximately one in 25,000 to 30,000 live births with no distinguishing sex or race association.

Dubowitz syndrome (DS) was discovered by Victor Dubowitz more than 40 years ago in female child he was working with. It is described as a rare autosomal disorder, with fewer than two hundred cases reported worldwide. (Groiss R, 1971).There is more recent research that hypothesizes that this syndrome might be more microduplication and or micro deletion. (Maas N, 2006). In some diagnosis the disorder has been confused with Bloom syndrome, fetal alcohol, and Fanconi anemia syndrome. (Pascual JC, 2005).Since there is no genetic reason for the disease but is thought to be pasted down or inherited from mother or the father that may carry a certain recessive gene. There is no way to test for the disease so these patients must be evaluated by different health care professionals that will focus on the physical

The Prader-Willi syndrome is a rare genetic disease characterized by a series of physical impairment, intellectual and behavioural dependent on alteration of chromosome 15. During early childhood, the syndrome manifests with an unusual muscle weakness and with a developmental delay. Subsequently, during childhood, begin to arise other problems, such as the continued appetite, learning difficulties and behavioural abnormalities. Individuals with Prader-Willi syndrome are, very often, people who suffer from obesity, from which spring problems heart of various kinds. The latter are the leading cause of death.

The disorder affects 1 out of 40,000 newborns (Atlas Genetics). Almost 90% of patients with this disease have a parent with the disease, but the symptoms in the parent can be very different from the symptoms in the child (MedlinePlus). Waardenburg syndrome type 1 (WS1) and type 2 (WS2) are inherited as autosomal dominant traits, which means one copy of the altered gene in each cell is sufficient to cause Waardenburg syndrome (GHR). Manifestations of the disorder may not be present in individuals that inherit the altered gene for the disease. Some cases of the disorder, such as type 3 (WS3) and type 4 (WS4) have an autosomal recessive pattern of inheritance. Type 1 and type 2 of Waardenburg syndrome can also be acquired even when there is no family history of the disorder. The disorder can be caused from new genetic changes that occur spontaneously for unknown reasons. Researches indicate that new sporadic mutations for type 1 of Waardenburg syndrome may be associated with the advanced age of the father. In dominant disorders, a single copy of the gene with the disease that is either received from the mother of father will be expressed in the offspring by dominating the other normal gene, which causes the result in the appearance of the syndrome (Rare

Prader-Willi syndrome is described as being caused by the function of genes in a particular region on chromosome 15 getting lost. Individuals with this syndrome will have a difficulty eating while they are in early infancy stages, however, later on in childhood over eating will cause morbid obesity. There are three main mechanisms for how this happens at the genetic level. The first one is when there is a deletion of the 5-6 Mb regions of paternal chromosome 15 (GHR 2014). Because the paternal regions were deleted and the genes on the maternal copy are inactive, this change causes people to lack important genetic information. Another mechanism the inheritance of two copies of maternal chromosome 15. This means that both members of the chromosome

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