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Recommended: prader willi syndrome
Prader-Willi Syndrome, also known as Prader-Labhart-Willi Syndrome or PWS, is a rare genetic disorder that has many physical and mental effects. It was first described in 1956 by Swiss doctors Andrew Prader, Alexis Labhart, and Heinrich Willi. They examined nine children and found that in infancy, when Prader-Willi Syndrome is usually diagnosed, babies will exhibit low muscle tone and strength, difficulties feeding because of a weak sucking reflex caused by underdeveloped muscles, and delayed mental and physical development (Foundation for Prader-Willi Research, 2014). It is best known for causing consistent hunger in those affected. This symptom appears between the ages of three and eight. An affected individual will feel hungry no matter …show more content…
Human Growth Hormone (HGH) is commonly administered to affected children. Approved by the Federal Drug Administration for use in people with Prader-Willi Syndrome in 200, HGH is effective in increasing height, muscle mass, bone density, and energy level. HGH also can decrease body fat, improve weight distribution, and has been linked to better development and behavior . Sex hormone replacement therapy is also often used to aid sexual development and reduce the risk of osteoporosis (Nordqvist, C., 2016). Behavioral issues associated with Prader-Willi Syndrome, like obsessive-compulsive tendencies and extreme stubbornness, can be treated with psychiatric therapy and sometimes antipsychotic drugs. Sleeping problems can be treated with medications, too. Daytime sleepiness can be treated with modafinil, a wake promoting drug. Breathing issues, like sleep apnea, that occur during sleep can be resolved with a Continuous Positive Airway Pressure (CPAP) machine (Forster, J., 2014). Back braces and surgery are used to treat scoliosis, which is more common in people with Prader-Willi Syndrome than the general population. While some of its symptoms can be treated, there no medications that alleviate the main effect of the syndrome: the constant hunger. Because of this, affected individuals often live in group homes where access to food is restricted for the rest of their lives after they leave the homes of their parents (Foundation for Prader-Willi Research, 2014). If obesity can be prevented and other symptoms of Prader-Willi Syndrome can be controlled, the lifespan of individuals with it is close to normal (Nordqvist, C., 2016), which is about 79 years in the United States (The World Bank, 2016). However, close medical supervision is recommended after age 40 because mental and physical issues become more common after this age (Sinnema, M., Schrander-Stumpel, C. T., Maaskant, M. A., Boer, H., & Curfs, L. M.,
Holland, A., Treasure, J., Coskeran, P., & Dallow, J. (1995). Characteristics of the eating disorder in Prader-Willi syndrome: implications for treatment. Journal Of Intellectual Disability Research, 39(5), 373-381.
Marfan syndrome is an inherited disorder that affects the connective tissue of the body (“What is Marfan Syndrome?” n.d.). The connective tissue plays a vital role in supported the tendons, heart valves, cartilage, blood vessels, and more parts of the body (“Connective Tissue,” n.d.). “What is Marfan Syndrome?” (n.d.) explains that the condition has no cure, and those who have it lack strength in their connective tissue, affecting their bone, eyes, skin, nervous system, and lungs. Furthermore, Marfan syndrome is common, and it is imperative to understand how the body is affected by it, the symptoms, and the treatment of this condition.
TSEs or more commonly prion diseases are a group of invariably fatal neurodegenerative diseases that occur in humans and animals . This disease is caused by a protease –resistant protein (PrPsc) after misfolding of a host-encoded prion protein (PrP). TSEs can exist as genetic, infectious or sporadic forms. The diseases are characterized by dementia, ataxia and neuropathlogically due to loss of specific neurons in the brain. Other clinical features include persistent painful stimuli, dystonia, visual or cerebellar problems and gliosis (1).
It is natural for a society to be concerned for the future generations. With the rate of obesity growing in adults and children, many begin to see it as an issue that needs to be addressed. New reports show “ childhood obesity has more than doubled in children and quadrupled in adolescents in the past 30 years” (cdc.gov). Overweight and obese are not actually the same. Overweight is defined as “having excess body weight for a particular height from fat,” and obesity is defined as “having excess body fat” (cdc.gov). With obesity comes the chance for cardiovascular disease and diabetes. Both can be
There are less than three hundred cases of Hutchinson Gilford Progeria Syndrome in the world.(Asselin, 2014) The possibility of being born with it is obviously extremely small. Even though the possibility is small, the need to know about it and understand it is great. The people impacted by HGPS are merely children. They are innocent children with their lives cut short. All of this happens because of a small change in their genes.
There are many disabilities that affect the Musculoskeletal System. One disability is Spina Bifida, which is a series of spinal cord defects caused by abnormal fetal development. We don’t know all the causes of spina bifida. Genetics and the environment may play a role in causing spina bifida. Spina bifida can range from mild to extreme. Some people may have little to no disability while others people may be limited in the way they move. Some people may even be paralyzed or unable to walk or move parts of their body. Although, most people affected by spina bifida lead full and productive lives. There are three types which include myelomeningocele, occulta, and meningocele. Depending on the classification there will be different characteristics and symptoms. It may be treated in different setting, with different potential treatment ideas.
...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 effects of multiple disabilities are often both multiplicative and interactive. Cerebral Palsy is a disability that originates from damage to the central nervous system, but which is often accompanied by sensory, communication, orthopedic, learning and cognitive abilities. The complex nature of cerebral palsy is related to differences in causation and the nature and degree of motor involvement. In this paper, Cerebral Palsy will be defined and described, followed by discussion of conditions that frequently occur with this disability. A description of the impact of cerebral palsy on physical and communication development will also be discussed.
It is noteworthy to mention that there are numerous diseases associated with rapid ageing and progeria like symptoms. Cockayne, Lison, Werner’s, and Wiedemann-Rautenstrauch Syndromes are amongst these diseases. The shortened term progeria can be used to address any of these disorders but is most often specifically associated with HGPS. This distinct disease was named after Jonathan Hutchinson and Hastings Gilford who each independently described it in 1886 and 1897 respectively. Thankfully, this alarming syndrome is so rare that it only affects about 1 in every 4 million children born.
There are many disorders or syndromes that cause people to behave and act differently than others. Out of all these syndromes, I picked one of them. This is a very rare syndrome and an estimate of 4% of children in the U.S. have it. It is known as the translocation down syndrome. Translocation down syndrome is a type of down syndrome caused by rearranged chromosome material. A child with translocation down syndrome has 3 #21 chromosomes instead of the two pairs. Here,one of the chromosomes is attached to another and the extra chromosome is what causes the health problems is what causes the health problems associated with the disorder known as down syndrome.
Any child can be born with Down syndrome, which could include your child. Many people don’t really down what Down syndrome is. Around the entire world not many really know what Down syndrome really is and the importance of it. Down syndrome has different causes that one should know about. There are many different types of health issues with Down syndrome. Down syndrome defines all the causes and the different health issues that Down syndrome holds.
In the video presentation of How Difficult Can This Be? The F.A.T. City Workshop, Richard Lavoie is able to simulate several of the difficulties that a student with a learning disability has to face at school. Some of the difficulties experienced by the students are intrinsic to the disability itself, but many other difficulties are directly related with the emotions that the student experiences when attending a class, and as a result of his or her interactions with teachers and classmates. Both the United States law and the education system, have the opportunity to make a huge difference in the learning experience of every student with disability. Students with disabilities need to be guided to a path to education that is both feasible and accessible for them; with achievable goals, and by being provided what they need in order to succeed, and to be able to overcome any obstacles.
Now, children with intellectual disabilities are respected, and cared for just like anyone else. This was not true prior to the mid 19th century. People and doctors feared them and they were often ignored. As time continued throughout history things changed for the better. Some people may have believed that someone either had an intellectual disability or not, but this is not true. There are different levels to it. Children with an intellectual disability can and do attend regular schools with a little extra help, but they do experience emotional and behavior problem along the way. Not all causes for intellectual disabilities can be found, but there are a few known ones. With all of this said, there are ways to prevent intellectual dishabilles and ways to treat it as well.
The disability that I would the least comfortable socially interacting with would be a physical disability. Our current society is one that values physical appearances. At a young age, family and friends tell children they have to act and look a certain way in order for others to like them. The media shows young boys and girls what a “hot” person looks like, and what they can do in order to look more like them. A physical disability would affect the image one is to present to society, and that can be emotional scarring. “When physical appearance is altered as a result of disability, the body falls further away from the expectations of society and body image, and the attitude one has toward the physical self may decline and affect self-image”
There are many life factors that can affect a person’s development and growth these inculde, genetic, biological, environmental ,socioeconomic and lifestyle factors. Genetics is the science of genes, heredity, and the variation of organisms. Also half of our chromosome come from our mother and the other half from your father. The gentic disorders are illnesess caused by the abnormalities in the genes or chromosomes. Down’s syndrome is an example of genetic disorder. Biological disorders are when something is physically wrong with the body or causes problems with the boddy, cancer is an example of biological disorder. These conditios can affect a person’s physical, intelltucal, emotional and social development.