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Prader willi syndrome
Prader willi syndrome
Essay on PRADER-WILLI SYNDROME
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Prader-Willi Syndrome Prader-Willi Syndrome is an unusual disorder rooting from the gene that is passed down to that person (Prader-Willi Syndrome). This disorder can act as an origin for a perpetual sensation of hunger as well as weak muscle tone and a minimal amount of sex hormones (Prader-Willi Syndrome) .This disorder is generally cause by the lacking pieces or defect in chromosome 15 in addition to the malfunction in the part of the brain that controls hunger.. Unfortunately, PWS has no antidote, but there is a range of remedies that can help to recover their symptoms (Prader-Willi Syndrome (PWS): Condition Information, 2014). Thesis- if someone has PWS specialists will work with you to help find out the causes, avoid complications and lower the severity of the symptoms. (Staff, 2014) …show more content…
There are signs that people with PWS will have. (Staff, 2014) As an infant the child will have hypotonia, which means their muscles are floppy and they have poor tone. (Prader-Willi Syndrome). A child will also have different facial features: almond shaped eyes, narrowing head, and a curved down mouth. Because of the poor muscles, the child will have difficulty sucking and will gain weight very slowly. In addition, the child’s eyes will not be coordinated, one may wonder off to the side while the other is focused ahead. The child will also have slow receptiveness: whether it is something stimulating or waking up, the infant will respond
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.
Symptoms: Up to the age of 1-3 years, affected boys have normal muscles that is they learn to stand and walk later than they are supposed to do and speech may be slow in development. Gowers sign is a sign that can be seen in boys. Hypertrophy of the calf muscles is also a characteristic sign of DMD (Alan E H Emery., 1998). Contractures at the knees and elbows are common and it will lead most boys to use wheelchairs by the age of 10, and end them dead before or at the age of 20. The commonest cause of death is cardiac muscles involvement that will lead to cardiac faliure and subsequentl to respiratory failure (Pryse-Phillips, William E. M. and Murray, T. J., “ A concise textbook Essential Neurology”. 4th ...
It is characterized by normal early growth and development followed by a slowing of development, the loss of purposeful use of the hands, slowed brain and head growth, problems with walking, seizures, and intellectual disability.
First and foremost, Eisenmenger syndrome was initially described in 1897 when German physician, Victor Eisenmenger, reported on a patient with symptoms of dyspnea and cyanosis from infancy that subsequently developed heart failure (Connolly, 2014). The postmortem description was revealed and a ventricular septal defect was discovered (El-Chami et al., 2014a). With that being said, this had been the first time that the link between a large congenital cardiac shunt defect and the development of pulmonary hypertension had ever been noted (El-Chami et al., 2014b). The normal heart has four chambers. The two upper chambers are separated from each other by the atrial septum (NORD, 2014a). The two lower chambers are known as ventricles and are separated from each other by the ventricular septum (NORD, 2014b).
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.
Nothing good comes from the disease Marfan syndrome. It is awful in many ways but can be dealt with. Here is an introduction to Marfan syndrome.
This Child exhibits Angelman syndrome because of the tongue thrusting, small head size, and the crossing of eyes that is present in this picture. There are many different symptoms for Angelman Syndrome such as, seizures, usually beginning between 2 and 3 ...
Nonspeech signs associated with hypokinetic dysarthria may include characteristics dealing with the face, eyes, hands, arms, and trunk. The individual may have an expressionless look to their face as well as weakness with gestures in the hands, arms, and face that would normally match the person’s prosody when speaking. Overall, their social interaction with others can be emotionless. Eye blinking occurs less frequently than normal and their head gaze does not match where their eyes are looking. These patients swallow infrequently which leads to drooling. A tremor may be present in the jaw, lips, and tongue as well as limited movement during speech even though strength of these structures is often normal.
Hearing loss, abnormalities with pigmentation of hair, eyes, and skin, and other minor defects are some symptoms of Waardenburg Syndrome. There are many ways to diagnose the disorder and many treatments for the symptoms of it as well.
Duane Syndrome is an inherited unusual type of strabismus (squint) most often described by the incapability of the eye(s) to move inwards, outwards individually or together. This was first reported via ophthalmologists Jakob Stilling in 1887 and also Siegmund Türk in 1896. The syndrome was named after Alexander Duane, who explained the disorder more specifically in 1905. The syndrome is described as a miswiring of the eye muscles, causing eye muscles to tighten when they don’t need to and other eye muscles not to tighten when they need to. Very often patients get the syndrome by the age of 10 and it is more common in females (60% of the cases) than males (40% of the cases). Although the eye is usually the abnormality associated with Duane Syndrome, there are other bodily functions that can be affected. Duane syndrome cannot be cured, because the cranial nerve is missing and it cannot be replaced. The gene known as “SALL4” has been associated as a cause of this condition.
Diabetes mellitus type 2 is an endocrine disorder that causes impaired use of carbohydrates while enhancing the use of proteins and lipids. This is called insulin resistance, in which the pancreas cannot make enough insulin to keep blood glucose levels normal, or the body is unable to use what is produced. The impairment causes blood glucose level to rise higher than normal. There is no cure for type 2 diabetes mellitus and it is life threatening when left untreated. Signs and symptoms of this disorder include vision changes, increased thirst, increased hunger, increased frequency of urination, stomach pain, nausea and vomiting, erectile dysfunction, and absences of mentruation. These can occur abruptly, or over a long period of time. Long-term complications from diabetes include kidney damage, eye damage, and blindness. The risk factors for developing diabetes mellitus include genetics, sedentary lifestyle, high blood pressure, history of diabetes during pregnancy, poor diet, obesity, high cholesterol, and abdominal obesity. Diabetes mellitus can be managed through the use of medication, or by reducing risk factors, such as avoiding obesity, inactivity, and poor nutrition.
Anorexia is a mental illness that can be identified by its victims starving themselves in order to drop weight to dangerous levels. Most often, anorexics will restrict their food or exercise excessively in order to decrease their body weight. Anorexia has the highest mortality rate of any mental illness. This is mainly due to suicide and the complications that occur consequently from starvation. These complications include heart and kidney failure as well as osteoporosis and muscle atrophy. Females may also stop menstruating. The gastrointestinal, cardiovascular, and endocrine systems may also be affected. Thus, Anorexia has detrimental effects on a person’s physical and mental health.
The child may also suffer repeated infections, such as gastro-enteritis, due to poor hygiene. A child with marasmus is very underweight, with no body fat and wasted muscles. Kwashiorkor occurs when a child is weaned later than normal and receives starchy foods low in protein. In this disease, the child's abnormally low body weight is often masked by water retention, which makes the face moon-shaped and the belly swollen. Deficiency diseases are usually associated with lack of vitamins or minerals.
Wurtman, J.J. and R.J. Wurtman, eds. (1979). Disorders of Eating: Nutrition and the Brain, 3, 121.
The patient may no longer be able to orally take in food, and the artificial means of feeding may worsen the patient’s quality of life. The concept of food cessation is often difficult for the patient’s friends and family to understand and accept, especially because food is essential to life, and eating is a sociocultural experience. Family must be reminded that to feed the patient may do more harm than good. However, until the time that oral intake stops, nurses must be providing other ways to increase the patient’s nutrient intake. The performance of symptom assessments and the development of plans of care should begin at the time of diagnosis and continue throughout the remainder of the patient’s life. These assessments and plans of care are both critical to preventing the onset of early malnutrition and to maintaining the patient’s quality of