Prader Willie Syndrome Research Paper

Screening tests are only available through biopsies. This means that basically once symptoms arise, one would be able to go and get a prognosis as to whether or not they have this disease.

Some diagnosing can be made at birth or close to birth because of heart problems, an unusually wide neck or swelling of the hands and the feet.

The diagnosis of the inherited metabolic disorders is conducted by routine testing and is normally present at childbirth. Although this test is not conducted at childbirth many states are improving there testing systems with use of improved technology. Thus, if the disorder is not detected at birth may go undiagnosed until the symptoms present themselves on the patient, then a blood or DNA test can be conducted to find out what type of disorder it is.

How are doctors able to diagnosis Noonan Syndrome? It is based on the person’s clinical symptoms and signs. There are 55 clinical tests that are available, what these tests do is check the sequence analysis of the entire coding region, which means they check if there is any possible mutation in the genes. One of these tests is called PTPN11 Gene Sequencing, what this test is intended for is to diagnosis Noonan syndrome, and to confirm that a mutation accrued. These tests are mainly done when there are parents that have been affected with this disorder, and are afraid to pass it down to their

Clinical examination and urine test (excess muccopolysaccharides are excreted in the urine) are the first steps in the diagnosis of an MPS disease. Enzymes assays ( testing a variety of cells or blood in culture for enzymes deficiency ) are also used to provide definitive diagnosis of one of the MPS. Prenatal diagnosis using amniocentesis and choroionic villus sampling can verify if the fetus is affected with the disorder. Genetic counseling can help parents who have a family history of the MPS to determined if they are carrying the mutated gene that causes the disorder.

This lack of protein causes deficiencies in the relaying of nerve impulses which then leads to an individual displaying the physical and developmental symptoms specific to this syndrome. Most males and about half of females with a full gene mutation have characteristics such as a narrow face, large ears, a prominent jaw and forehead and unusually flexible fingers, and even flat feet and low muscle tone due to associated problems with connective tissues (National Library of Medicine, 2014). Males tend to have a mild to moderate intellectual disability, while only one-third of affected females are intellectually disabled (National Library of Medicine). Individuals also suffer from behavioral problems that include things such attention-deficit/hyperactivity disorders, obsessive-compulsive fidgeting or impulsive actions, unstable and disproportionate emotional displays, aggressive and self-injurious behavior related to difficult temperament, and features of autism spectrum disorders like hand-flapping and poor eye contact (Hersh & Saul,

Newborn screenings are done to identify infants with PKU. Each state in the United States differs with their screening process, but most of the screenings consists of blood tests. A few drops of blood are collected from the baby’s heel 24 hours after the baby is born. The blood sample is sent to the laboratory to test for metabolic disorders such as PKU. If there is an indication of PKU further tests are conducted like urine tests and more blood tests.

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

Your health care provider may suspect trisomy 13 or 18 if multiple defects are found at birth. The diagnosis can be confirmed by genetic testing done on a blood sample. Your health care provider may have imaging studies done to check for major abnormalities in the heart, digestive system, or brain. These may be done using:

Also, diagnostic lab testing is done from blood and skin samples of progeria children to take a close look at the DNA.

Treatment varies from child to child and depends on the specific symptoms” (“Trisomy 13” 2017). If the child survives, then surgery may be necessary to repair heart defects or cleft lip and cleft palate. Physical, occupational, and speech therapy will help individuals with Patau Syndrome reach their full potential in life.Treatment of children with Patau Syndrome depends on the patient's circumstance. A concentration is on particular physical problems when each infant is born. According to an educational website, “Patau Syndrome is diagnosed by a prenatal diagnosis. Chorionic villus sampling is needed to make a definitive prenatal diagnosis. Cytogenetic of fetal blood may also be carried out” ("Trisomy 13 - Genetics Home Reference” 2017). Patau Syndrome can be diagnosed before birth by amniocentesis with chromosome studies of the amniotic cells. Patau syndrome occurs as a random event throughout the formation of both the eggs and

abnormally shaped head, and long overlapped fingers. There is also bone abnormalities, frequent lung and

Estrogen is a hormone that controls sexual and reproductive development, mostly in women. This hormone is predominantly produced in the female ovaries, and plays an important role in puberty.() Estrogen helps in the development of secondary sex characteristics such as, pubic hair, armpit hair, and breasts. The development of secondary sex traits or puberty once occurred at the age of 15, but now the adolescents are witnessing these changes in their body at ages less than 12 years old().

through several test the entire body of the person can be checked for what is

Diagnosis of the disease can be done different ways. Ultrasound is a noninvasive way that can detect most incidences of it during the 11th-14th week of pregnancy. If existence of disorder is possible, then amniocentesis and/or chorionic villus sampling testing can be done; these tests consist of taking fetal cells from the placenta and analyzing them for the presence of an extra chromosome. Interruption of the pregnancy is a personal choice of the parents but nevertheless the baby is fully formed after 15th week, which is a critical factor taken in consideration when making such an impacting