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Prader-Wille Syndrome

Phase I is the prenatal, neonatal, and early infancy period. During this period the child shows diminished fetal activity, poor muscle tone, and a failure to thrive after birth. Phase II is between the ages of two and three. During this phase uncontrollable hunger emerges. During the 1970's and 1980's literature described the behavioral, personality, and medical problems associated with PWS. A study by Greenswag in 1987 showed that a controlled diet can extend the life expectancy of individuals with PSW. Greenswag's study also showed that emotional lability does increase with age and is independent of the presence of adult obesity.
             Now that we know a little bit of history about Prader-Willi Syndrome, let's look at the three main genetic errors that cause Prader-Willi Syndrome. The most common of these errors is a non-inherited deletion in the paternally contributed chromosome 15. This type of genetic error is the cause of seventy percent of Prader-Willi Syndrome cases. The second most common genetic error that causes PSW is maternal uniparental disomy. This occurs when both chromosome 15s are inherited by the mother. About twenty-five percent of PWS cases are caused by maternal uniparental disomy. Lastly, an imprinting defect inherited from the father will not allow the normal expression of the active genes on chromosome 15. .
             Scientists and physicians are discovering more and more about Prader-Willi Syndrome and how to read the genetic structure that can lead to a child developing this syndrome. It is important to know some of the common characteristics of an individual with Prader-Willi Syndrome. Let start by talking about some of the Major Clinical Findings.


Essays Related to Prader-Wille Syndrome

1. Facing the Disability of Down Syndrome

... People who have been affected with being disabled face society in cruel way. The world does not see that people diagnosed with Down syndrome or other disabilities live with every day and get treated differently. Whether those diagnosed with the illness dealt with discrimination, bullying, been ... who have disabilities and families whom have to deal with every day. One well known disability that gets discriminated against are people with Down syndrome. Down syndrome is a type of condition when a child is born, they have an extra chromosome. In total, it would make forty-seven chromosom...

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  • Grade Level: High School

2. Diagnosing Down Syndrome

... the individual, the extra chromosome changes the body and brain's normal development and causes mental and physical problems (www.britannica.com). There are many physical problems associated with Down syndrome. Some of the most common include birth defects of the heart, stomach problems, hearing problems, eye problems, thyroid problems, skeletal problems, dementia, cognitive impairments, small intestine ... a decision to make between terminating the pregnancy and carrying their child to term. Research has shown multiple factors to help influence a woman's decision making process following...

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3. Down Syndrome

... that are stuck together would cause the child to have three number 21 chromosomes. " If the Translocation Trisomy 21 was inherited from a balanced carrier, the risk of Down syndrome occurring in future pregnancies is higher than the general population." (Stray-Gundersen 12). The characteristics for nondisjunction Trisomy 21 are very similar to the characteristics found in the babies with ... translocation Trisomy 21. When a baby is diagnosed with having Mosaicism Trisomy he/she may have fewer traditional Down syndrome characteristics. Mosaicism Trisomy 21 occurs when " a faulty cell div...

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4. Downs Syndrome

... to be one hundred percent affective, but they have helped many patients to live happier, more comfortable lives. The Medical problems are involved with Downs Syndrome are more severe in Downs then they would be in that of a healthy child. Named for a British Doctor, John Langdon Down, who first ... in three different forms, Trisomy 21, Translocation, and Mosiac. The most common of the three, Trisomy 21, affecting 95 percent of patients with Downs Syndrome is caused by an extra 21st chromosome. Usually a person has twenty-three pairs of chromosomes, each made up of genes, but in Trisomy ...

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  • Grade Level: High School

5. Down Syndrome

... . Screening tests need to be confirmed by a diagnostic test. Diagnostic tests are amniocentesis and chorionic villus sampling (CVS). Amniocentesis is the commonest form of antenatal diagnosis for Down syndrome. With amniocentesis a needle is passed through the mother's belly into the womb to sample fetal cells in the amniotic fluid. These cells are then sent for chromosome analysis. ... enrichment, and assistance to the families will result in progress that is usually not achieved by those infants who have not had such educational and stimulating experiences. Children with Down syndrome,...

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  • Grade Level: High School

6. Fragile x syndrome

... apprehension of future events, worry with regard to competence, performance and social acceptability all seem to trigger anxiety disorders. Various learning strengths and weaknesses characteristic of Fragile X syndrome have been identified. Arithmetic, receptive language, expressive language and significant attention problems are areas of weaknesses whereas, reading is an area of strength. Males show difficulties in ... individualized education plan must be developed to clearly identify specific learning needs through explicitly defined goals and objectives. BIOMEDICAL ADVANCES IN DEVELO...

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  • Approx Pages: 10
  • Has Bibliography
  • Grade Level: Undergraduate

7. Downs Syndrome

... ago there wasn't as much they could do for it. And those with the disorder didn't lead as productive lives as they do now. To detect Down syndrome in a baby there is a genetic test done called Karyotype, this test confirms the diagnosis. The test consists of taking a small amount of blood. At ... birth there are many physical characteristics that make doctors suspect Down syndrome, but the test is still very necessary. Some characteristics are the ears being set lower on the head, rounded face structure, widely set apart eyes, ... people. They work and have families of their own and li...

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  • Grade Level: High School

8. Down Syndrome

... . These can include shock, feelings of disbelief, feelings of sorrow, guilt and feelings of embarrassment. In the past, most babies who had Down syndrome were put into an institution. Today the trend is to keep the child at home and have the child became a functioning member of society. ... They have flabby muscle tone and poor coordination due to less control over the motor nerves. 9. About one third of children born with Down syndrome will be having a heart abnormality. The most common being atrioventricular septal defect. This is when there is a hole between the two atria. About ... b...

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  • Grade Level: High School

9. Down Syndrome

... all races and levels of society. The effects of the disorder on physical and mental development are severe and expressed throughout the persons life. (Genetic Disorders Source Book pg. 2) Down Syndrome is characterized by a genetic defect in the chromosome pair 21. Normal cells in the human body, except the Ova and Sperm cells have 46 chromosomes. There are 44 autosomes and ... egg, sperm, or during fertilization. (Genetic Disorder Source Book pg. 5) Translocation is the interchange of chromosomes or parts of chromosomes which may result in a mismatched pair. Children with translocation D...

  • Word Count: 1316
  • Approx Pages: 5
  • Has Bibliography
  • Grade Level: High School

10. Down Syndrome Today

... impaired learning, social, and vocational ability. It is a disorder in which a person's overall intellectual functioning is well below average, with an IQ of 70 or less. Down Syndrome has a universalized definition found correspondingly in almost all sources: A congenital disorder, caused by the presence of an extra 21st chromosome (also called trisomy 21), in which the affected person ... in the beginning; however, students were not given sufficient support and services. Resent additions to PL 94-142 have created a variety of new classrooms for students with Downs syndrome and other me...

  • Word Count: 3603
  • Approx Pages: 14
  • Has Bibliography

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