Prader Willi Syndrome Research Paper

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 provider is correct that short stature is not necessary for the diagnosis of growth hormone deficiency if the member is short for expected height; however, this member’s height has never clearly been outside the expected range for family. It also can be argued that delay in growth velocity can be masked by the pubertal growth spurt. However, review of the growth charts provided by the member’s primary care physician and endocrinologist does not clearly demonstrate abnormal growth velocity. While he did have one point that dipped down to the 10th percentile, overall his points are between the 10th and 25th percentiles and generally follow the same curve, indicating that one point is likely aberrant or perhaps consistent with normal prepubertal slowing in growth. After puberty started, the member grew at the upper end of the normal range, which is generally not seen in growth hormone

Williams Syndrome(WS) is considered as a neurodevelopmental disorder, caused by a contiguous gene deletion of about 26 genes from the long arm of chromosome 7(Peoples et al., 2000). Since it had been first aware by J.C.P. Williams in 1961(Lenhoff, Wang, Greenberg & Bellugi, 1997), Williams Syndrome has drawn more attention in last 40 years. the incidence rate is approximately 1 in 2000 and diagnosed generally at 6.4 years old (Morris, Demsey, Leonard, Dilts & Blackburn, 1988). People with WS usually show a developmental delay at the early age and are affected all life long. Williams Syndrome is characterised by some abnormalities in physical, behavioural, and cognitive.

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

The treatment depends on their specific symptoms. If an individual’s heart is affected, then they would be treated just like any other individual with a heart condition. If they have growing problems it is most likely due to the fact that they don’t have enough hormones. If that is the case, then the individual would be given growing hormones as a treatment. Early development disabilities are dealt with during therapy when the right equipment is present. If the individual had bleeding problems, then the treatment all depends on their

In most cases, this condition is caused by a genetic abnormality that interferes with brain growth. The child's brain may not have

It is no secret that children’s growth and development is an ever-changing and at times difficult aspect on life. In most cases, changes in both mass and stature occur for girls from ages 10-12 and in boys from ages 12-14. Most of the growth during this time for both girls and boys occurs in their legs. For example, at age five, leg length is about 45% of total height while at age 10 the

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.

A “FISH” (fluorescent in-situ hybridization) test will identify those patients with PWS due to a deletion, but it will not identify those who have PWS by “UPD” (uniparental disomy) or an imprinting error.

Prader-Willi syndrome is the most common known cause for life-threatening child obesity. Although the causation is quite complex, there are many available treatments to the wide variety of symptoms that this disease will bring (Genetics Home Reference, 2016).

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.

They primarily include hormone growth therapies and estrogen supplements. Growth hormone treatment is usually given several times a week as injections. The goal is to increase height as much as possible at appropriate times during their development years. They would need to start estrogen and related hormone therapy in order to begin puberty and achieve adult sexual development, until the age when menopause starts to happen is when they will have to be on it till. There will be few women with Turner syndrome who can become pregnant without fertility treatment. For those who cannot get pregnant they have the option of doing special hormone therapy and getting donated ovaries and

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

Today one of the most pressing issues in society is obesity, especially in young children. Childhood obesity is a multifaceted disorder that has an array of causes from genetic to environmental factors. Genetic disorders and syndromes, which would be classified as nature, include Cohen Syndrome, Ayazi Syndrome, Leptin Deficiency, Proopiomelanocortin Deficiency, and Growth Hormone Deficiency. On the other side of the spectrum there are environmental issues, or nurture issues, which include an unbalanced diet, socioeconomic factors, and physical activity. It is important to note that neither nature nor nurture are the immediate cause of childhood obesity rather, they work in unison.

Your pediatrician informed me that your six-month-old child Sam has troubles when it comes to feeding, and she displays signs of restricted motility due to a small muscle tone. These symptoms are common to many genetic disorders. We sent in a blood sample collected from your previous appointment with the pediatrician to confirm a diagnosis.Through a molecular genetic test called DNA methylation analysis, the results identify that there is a small section of genes deleted on the long arm of the paternal chromosome 15 (Gunay-Aygun). The weak muscle tone (also known as hypotonia), infant inactivity, and the deletion of paternal chromosome 15 meets the criteria that Alex has an uncommon genetic disorder called Prader-Willi Syndrome (PWS) (NIH, n.d.).A feature of PWS is the dysfunction of the hypothalamus. The altered hypothalamus creates problems in growth development such as reduced activity, mental retardation, hypotonia, short stature, small hands and feet, and hypogonadotropic hypogonadism, and most notably hyperphagia (overeating) (McKusick, 1986; Hypothalamus n.d.).