Williams syndrome

Content

Introduce 3
History 4
Characteristics of William Syndrome 4
Body 4
Behaviour 5
Emotion 5
Cognitive 5
Prevalence and Incidence 5
Causes 6
Biological 6
Assessment 6
Intervention 7
Conclusion 8
References 9Introduce
The most important treasure for peoples is health. Every body knows that, every body repeats it thousands of times. For parents sometimes the most important are them own child. They could do anything for them. But sometimes it is not enough to want or to do, because diseases do not ask or you could do for your child everything, it just appears and you need to fight with them. How much cost child’s health? For paarents it maybe to much, because if them child has some disease them life stop like stop for them children. In now a days healthy, smart child make us feel very happy. In this time in world there are too much new disease, syndromes, illness, weakness. If we look to world history we will see how much human create, took efforts to make our life easier, softest, kindness. Way to progress always was hard, but humans always reach them intention too make something new for peoples. Everyone century is marked of discoveries in everyone direction: science, arts, technique, economy and so on. Human are strong creatures, they can create a lot of fabulous things, but there are one thing – with th

his, come and a lot of bad things, and the main of them are new diseases, illness, syndromes, virus, grips and a lot of others. Maybe human who want did better life for peoples did worst? We just can hope that medic always will be one step front to block way for death, huge virus syndromes, new grips.History
Zealand cardiologist John Cyprian Phipps Williams (born in 1922) he first described this syndrome in 1961. It also knew how Williams- Beuren syndrome. This syndrome characterized by delayed physical and mental development, this delay lead to mild mental retardation. Last-mentioned mark for children that they are extremely out-going, friendly, polite, expressive social skills. They are typically unafraid of strangers and show a greater interest in coontact with adults than with common age people. It is notice that they have tendency in music, good music performance. Sometimes they are called a “cocktail party” person, it is visible that they have honest, public opinion, expressive speech and musical ability. This was discovered in 1993 that the syndrome is caused by the deletion of the gene that directs the manufacture of elastin, a protein providing strength and elasticity to blood vessels, from one of the two copies of chromosome 7
begin present in every body cell. Adults, children with this syndrome have special face, sometimes it seem that they a like elf, pixie, thick voice, extreme sensitive to noise, hard and vessels problems.Characteristics of William Syndrome
Body
Williams’s syndrome (WS) marks people with all life cardiovascular disease. Humans being are marked and have original face, puffiness around the eyes, a short nose with a broad nasal tip, wide mouth, full cheeks, full lips, and a small chin. They are also likely to have a long neck, sloping shoulders, short stature, limited mobility in their joints, and curvature of the spine. Some individuals with WS have like a star pattern in the iris of their eyes. Babies with WS are often irritable, anxious; they have feeding problems that keep them from gaining weight. Chronic pain in belly, stomach is common in adolescents and adults age. By age 30, the majority of individuals with WS have diabetes or pre-diabetes and mild hearing loss. For some people, hearing loss may begin as early as late childhood.Behaviour
People with WS have unique personality characteristics. Individuals with Williams’s syndrome have a very kind personality. They have a unique strength in their expressive language skills, and are extremely polite, always wa
ant to talk. They are typically unafraid of strangers and show a greater interest in contact with adults than with their peers. Therefore, they have attention deficit.Emotion
Many infants with Williams’s syndrome have an extended period of colic or irritability. This typically lasts from 4 to 10 months of baby age, then it resolves. Abnormal sleep patterns are delayed to get normal, so of sleeping through the night may be associated with the colic. Children with Williams’s syndrome often have more sensitive hearing than other children; certain frequencies or noise levels can be painful or startling to the individual. This condition often improves with age. More than 50% of children with WS have attention deficit disorders, and about 50% have specific phobias, such as a fear of loud noises. The majority of individuals with WS worry excessively.Cognitive
People who have WS characterise of mental weaknesses in short-term memory and verbal language, they have skills to copy patterns, draw, and write. Language is basal, strongest skills is in typically vocabulary. In almost all cases (of children) speech level reaches less than average. Abstract or conceptual-relational vocabulary is much more limited. Older children and adults with WS speak fluently and use good grammar. Usually they also have mi
ild mental retardation.Prevalence and Incidence
1 child suffers from Williams’s syndrome per 7,500 – 20,000 people. The cases are sporadically, chances for girls and boys get this syndrome are the same. Disorder is found across all races and countries. This syndrome do not have cure for sick persons.Causes
Biological
This William syndrome arises of one missing genetic material on chromosome number seven. It is gene which forms ‘Protein Elastin’; this protein ensures strength to tissues of blood vessels. Then protein elastin is stopping forming in human body arise strange attribute of physical physiognomy. The missing chromosomal that causes William Syndrome is so small that it is not possible to see in nucleus of cell. Moreover, how it is being hard done not see it, with special technique called FICH (fluorescent in situ hybridization) we could diagnosed it. However, no two persons suffering from ‘William’s Syndrome’ will have the same problems. One problems could arise for one persons, other – others. Syndrome occurs spontaneously, not as the result of transmission of genes from either of the parents. Individuals who have syndrome have a 50 percent chance of passing it on if they decide to have children. Unfortunately there is no cure of William syndrome.Assessment
The prognosis of people who sick William syndrome could be changing. With this disorder scientists find what persons have mild mental retardation, but this do not disturb live them life independence from parents. Some adults a able to live alone, finish academic or professional school and live in supervised homes or on their own; in the most cases people have they own carer. Family could change situation a little in feature if they teach they child from childhood self-support. Also early intervention and individualized educational programs help maximize their potential. Medical complications associated with the disorder may shorten the lifespan of some individuals with WS. Physical therapy is helpful to patients with joint stiffness. Developmental and speech therapy can also help these children; for example, their verbal strengths can help compensate for other weaknesses. Other treatments are individualized based on a particular patient’s symptoms.Intervention
The syndrome arises from biological causes. It changes all persons life, they do not live how normal people, they look like not everybody, them behavior, mind is different too. William syndrome is an uncommon and complex disorder; multidisciplinary clinics have been established at several centres in the United States. Also this syndrome has supporting groups like Williams Syndrome Foundation www.wsf.org, Williams Syndrome Association www.williams-syndrome.org and others. All the main organizations are in United States, because they have a big population of people. Of course in whole world we have supporting organizations for sick people, somewhere – more, somewhere – less. In world there is no prevention for random mutation of this sick. If there is a family history of Williams’s syndrome prenatal genetic testing is available. There are support groups where both parents and children are given counselling with the help of psychologists and physicians together.
Williams’s syndrome often goes undiagnosed (peoples who sick this disease do not get acceptations that they sick this disease). This means many people fail to get the support and treatment they need until later in life. There may be many physical, developmental, intellectual and social problems in Williams’s syndrome, which may require a team of health professionals. Treatment it could be like speech therapy, social ‘training’ – for example, how to greet people appropriately instead of automatically kissing and hugging, till physical therapy from a physiotherapist, occupational therapy.
In Lithuania there are no clinics which would be separate for these syndrome sick peoples. It is sad, because we even do not have good information about it, but in my opinion it is happening because that we do not have big population is Lithuania; so, we do not have and a lot of peoples who sick this disease. So, there go these people in Lithuania? Normally, they go to special centres, schools where go and other children with some certain problems for e.g., mental and physical. With WS people can get help or treatment. All citizens of Lithuania get support of health centres if they need, but usually the main care of them come to family, parents.Conclusion
A lot of people in world destine to live with their own disease – asthma, diabetes, arthritis, and a lot of others. In now a days medicine help to do our life longer, but make sure quality and meaningful of life it can not. For patient and for him family need accept effect of illness. It is not easy reach normal ambition for healthy peoples, then they need give help for sick peoples to live them life. Then ill arise, and then people lost them hope to recover it, it is easy to feel that destiny done hard to you, easy imprison them self’s in small world – home, clinic, pharmacy. Everyone’s ills case is individual, but sick people find everything something common. Always healthful – hospitals, sanatoriums, or going to clinics – come up chance to meet new people, share them own experience and information. Common experience gets closer new peoples, and often they get friends, who they can trust. Do not lose and learn from start live different life help family, doctors, believing, and especial inspire successful the same destiny peoples efforts overcome life difficulties. Without knowing and skills, for most it bring more strength, spirit comfort and support try to live again. I just could wish for these peoples do not lose and always have strength to live they life like they want. It is not easy, but try everybody can.References
1) http://www.rareglobaldiseases.com/williams_syndrome.php
2) http://www.geneclinics.org/profiles/williams/details.html
3) http://www.encyclopedia.com/doc/1O87-Williamssyndrome.html
4) http://www.wisconsinmedicalsociety.org/savant_syndrome/savant_articles/williams_syndrome
5) http://www.autism-world.com/index.php/2007/08/16/characteristics-of-williams-syndrome/
6) http://www.emedicine.com/ped/topic2439.htm
7) http://www.mamashealth.com/syndrome/willsyn.asp
8) http://www.williams-syndrome.org/forparents/whatiswilliams.html
9) http://www.ninds.nih.gov/disorders/williams/williams.htm
10) http://www.drugs.com/enc/williams-syndrome.html
11) http://www.k12academics.com/ws_causes.htm
12) http://www.betterhealth.vic.gov.au/bhcv2/bhcarticles.nsf/pages/Williams_syndrome
13) http://www.sveikaszmogus.lt/index.php?pagrid=pacientas&lid=2&rodyti=str&strid=2716&subtema=147

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