Letter to the Parents of Child with Prader-Willi Syndrome
Dear Parents,
I am writing you because I was informed that you have a child with the Prader-Willi Syndrome (PWS). I have recently been researching this disorder and want to give you some information about it that you may not yet know and suggestions that may help in maintaining your child's health and safety.
Prader-Willi Syndrome is a two-stage non-hereditary genetic disorder that occurs in both male and females. The first stage is the mutation of gene expression, the second stage starts after the child is born. It is not very common, only 1 out of 15,000 people are born with it. It is caused by a genetic abnormality on the 15th chromosome.
On a normal person, you have 23 pairs of chromosomes. In each pair, 1 gene comes from the mother, and 1 gene comes from the father. This is how things get passed down from parents to children (like eye color, height, skin tone etc...).
However, in a person with PWS, the 15th chromosome has been given 2 genes from the mother, and none from the father. This is called maternal UPD ( uni-parent disomy) in which 2 copies of the maternal chromosome are inherited with no paternal contribution. Despite the presence of 2 intact chromosomes, there is a functional abnormality in the imprinting that may lead to the absence of gene expression from the paternally donated chromosome, resulting in the PWS phenotype (physical trait) that is common in persons with PWS.
The physical traits or symptoms of a person with PWS are due to the abnormality in the satiety center of the brain, (satiety is the sense of being "full" after eating, or knowing when your hungry and when your not). People with PWS do not have the sense of normal satiety, therefore they do not realize when they are "full" from eating. This leads to obesity, and uncontrolled eating habits. No medication has been found to treat this problem.
This means that people with PWS have to be maintained and controlled their entire life, basically they need 24-hour care. It is essential that food intake is controlled. Also, they will have to maintain good exercising habits, at least 30 minutes each day. This will not prevent them from being overweight, because of the body composition in PWS: muscles are small, muscle tone is low and the activity level is usually below normal.
The implication that teachers may take from this article include: strict and firm direction is needed for students with Prader- Willi syndrome in order to ensure their eating disorder does not become a problem. Also, restricted access to food during classroom activities should maintained to reduce need for restraints and over- eating.
...so discuss making a exercise plan that will work for the patient, and will not cause him/her any pain. If all of the correct measures are taken, and the patient is taking care of themselves, they can prevent more serious complications from occurring. They must know that they are serious complications from one not taking care of themselves, or living a unhealthy life style. It does involve a lifelong commitment to change. Medication will help, but one must also be willing to change.
As Dr. Ceballos explained it in lecture, the need for metabolic fuels is continuous, but food intake is episodic; consequently, energy intake and expenditure are never quite balanced. After a meal, there is a surplus of energy that must be stored for later use (Ceballos 2016). The fat cells usually take on the storage duties and vicious cycle ensues. Eating more leads to surplus of energy that will get stored as fat. Additionally, there is a chance Bonnie’s condition maybe hormonal. The hormone PYY3-36 is released by intestinal cells. This small peptide level increases after a meal to lower the appetite (satiety) signal (Ceballos 2016). This PYY3-36 acts on hypothalamic appetite control mechanism. PYY3-36 is very low in obese people, causing them to feel hungry. Dr. Ceballos discussed stress hormones such as cortisol. The release of cortisol can boost abdominal fat and may be the primary connection between stress and weight gain. Cortisol is a glucocorticoid. These hormones, along with insulin, appear to be responsible for stress-related food cravings (McLaren Health
The disease Angelman Syndrome, named after the physician Harry Angelman, was first diagnosed in 1965. It is now known that the disease results from the loss of function of UBE3A, a gene. One is normally inherited from each parent. The copy inherited from the mother is active in certain areas of the brain. If this copy of the gene UBE3A is lost due to chromosomal change or gene mutation, the lost gene will not have active copies in parts of the brain. A majority (70%) of Angelman syndrome cases happen when a segment of the maternal chromosome 15 is lost or destroyed. A minority of the disease is caused by a mutation or loss of function of the mother’s copy of the UBE3A gene. The majority of cases result from uniparental disomy, which is when the son or daughter inherits two copies of chromosome 15 from his or her father. Translocation, or chromosomal rearrangement, can also cause the disease. Most cases of this disease are not inherited, instead are a result of deletion in the maternal chromosome 15. Across 1. 2 copies of chromosome 15 are inherited from the father Down 1 Person who first diagnosed this disease 2 Disease the magazine is about 3 A gene 4 a minority of this disease is caused by this 5 Chromosomal rearrangement DISEASE BACKGROUND PAGE 1
(Calendar 2013) Waardenburg Syndrome is a rare genetic disorder meaning that is caused by a mutation of genes. The disorder is classified as type I, II, III, or IV based on inheritance pattern and symptoms (Genetics 2013). Waardenburg Syndrome is an incurable disorder that is inherited from either one or both parents. If it came from one parent, it is an autosomal dominant pattern and if it came from both, it is known as an autosomal recessive pattern (Calendar 2013).
A genetic disorder is a sickness caused by one or many abnormalities or absentees in the genes or chromosomes. One interesting genetic disorder such as cancer, are found genetic but, can also be caused and affected by many by environmental factors such as being exposed to asbestos which may increase the risk of lung cancer and many other cancers. While on the other hand most disorders like Williams Syndrome are genetic and are primarily rare and only affect a limited amount of people about one in every several thousand. Because it is a genetic disorder that is estimated between 1 in 10,000 people worldwide, primarily caused by a micro-deletion on the seventh chromosome is what indicates the disorder being Williams Syndrome.
...r Progeria. Monitory for cardiovascular disease may help with managing the heart conditions that occur later in the child’s life. Some children may have coronary artery bypass surgery of dilation of cardiac arteries (angioplasty) to reduce the onset of cardiovascular disease. Physical and occupation therapy will ease stiff joints and allow more flexibility and allows children to maintain a healthy level of playtime with friends or even some sports. Regular dental visits are important and having the milk teeth extracted will help prevent problems associated with HGPS. Good nutrition for caloric building and promoting smaller meals frequently through out the day will help with energy and growth. Hydration is very important when dealing with a child suffering from Progeria; due to the thin dry skin children with progeria are more prone to become dehydrated.
The normal human karyotype comprises 22 chromosomes from the mother, and 22 from the father. AS is caused by the loss of the normal maternal contribution to a region of chromosome 15, most commonly by deletion of a segment of that chromosome. However, if the paternal contribution to a region of chromosome 15 took place, it would be called Prader-Willi syndrome, the sister disorder of AS. Both disorders can result from deletion, uni-parental disomy, single gene mutation, and imprinting defects of chromosome 15. These two conditions contain both complex similarities and clinical distinctions. They both feature neurological, developmental, and behavioral phenotypes as well as other structural and functional abnormalities. However, symptoms of AS include seizures and ataxia, while PWS includes obsessive-compulsive symptoms and hypothalamic insufficiency.
Despite being the most prevalent eating disorder amongst individuals with developmental disabilities and may occur in as many as 25%-33% of children, there is much that is still unknown about pica. There has been little advancement in finding out what causes this disorder and because of that, treating and even diagnosing pica can be difficult. In addition to that, pica can have health consequences that range from mild to severe so, when coupled with the difficulty in treatment and lack of breakthrough research, pica has the potential to be an extremely dangerous disorder.
The type of mutation that occurs in Down syndrome is aneuploidy that is the irregular number of chromosomes in a cell. The most common of the three is the trisomy 21 that occurs in about 90% of people with the disorder. In this factor the human is given three copies of the chromosome 21 instead of the common two copies. This occurs due to the complications of the cell division in the process of the egg or sperm. The next case is mosaic which happen when there are inequality of cells with three copies of chromosome 21 and others with the original two copies. Mosaic appears when there is an unexpected cell division after fertilization. The last and the rarest form is translocation and that happens while the chromosome 21 in cell division is broken off and attached to another chromosome. Since the disorder is unexpected there are numerous amounts of risk factors that are possible based on the severity of the person.
Researchers have founded numerous genes that cause to become Albino. The genes are situated on autosomal chromosomes. Autosomes are the chromosomes that contain genes for overall body features. Genes carry the material that makes you a person. We usually have two duplicates of these chromosomes and genes: one inherited from our father, the other inherited from our mother. Albinism is a recessive trait and someone without albi...
Most cases of Down syndrome are not inherited. When the condition is caused by trisomy 21, the chromosomal abnormality occurs as a random event during the formation of reproductive cells in a parent. The abnormality usually occurs in egg cells, but it occasionally occurs in sperm cells. An error in cell division called nondisjunction results in a reproductive cell with an abnormal number of chromosomes. For example, an egg or sperm cell may gain an extra copy of chromosome 21. If one of these atypical reproductive cells contributes to the genetic makeup of a child, the child will have an extra chromosome 21 in each of the body's cells.
In a perfect world there is no such thing as a disease. However, in our world there are several diseases any living thing can be diagnosed with. Some diseases are inherited and passed down through genetics. Mucopolysaccharidosis I, also known as MPS I, is one of the diseases that an offspring will inherit from their parents. This disorder causes many symptoms within the body and has long term effects on the individual. Since MPS I has a wide spectrum of medical issues it is subdivided into three syndromes: Hurler's syndrome, Hurler–Scheie syndrome, and Scheie's syndrome. In this research essay, I will discuss the conditions and treatment of MPS I, the genes that are associated with it, and the inheritance of the disorder.
The genetic defect that causes albinism in other types of albinism is unknown, but it is speculated that it involves other enzymes used to make pigment. Albinism is passed from parents to their children through genes. For nearly all types of albinism, both parents must carry an albinism gene to have a child with albinism. Parents may have normal pigmentation, but still carry the gene. When both parents carry the gene, and neither parent has albinism, there is a one in four chance at each pregnancy that the baby will be born with albinism.