Mental and Physical Effects of William Syndrome - Research Paper Example

? William Syndrome The of the Your The William syndrome is a disease occurring due to the missing of gene in the chromosome 7 of human body. William syndrome is seen in new born babies , but its detection is not easy as all the features of the disease do not appear by birth. Some of the features of William syndromes are delayed speech , development delay in both physical and mental field, feeding problem, mental retardation and typical facial structure. It is mandatory for couple with family history to pay extra attention to the new born baby in look out for the disease symptoms. Unfortunately there is no treatment for this disease ,and only thing which can be done is to give health care and affection to the children as long as they live. Williams Syndrome Introduction William syndrome is a genetic disorder in people which leads to problems with their physical and mental development. It is a rare disease and is caused due to the missing of gene. Much of the time, the family history or parents may not have this particular disease. Although an individual who possess William’s disorder has 50% chance of passing it on to the coming generation. It is seen that William’s syndrome appears 1 in 8000 of births. The cause of this disease occurs randomly. Here, there is missing of 26 genes from the long arm chromosome 7.William syndrome was primarily identified by Dr.J.C.P Williams in the year 1961 in Newzealand. The patients of William Syndrome depict mental disability, underdeveloped forehead and cheeks and also wide set eyes and mouth. William syndrome can affect any person and its presence is obvious from birth. The characteristics of William’s syndrome are related to cardiovascular problems, learning disability and delay in development pattern. It is estimated that 20,000to 30,000 people in United States are affected by this disease. Around the world almost 1 in 10,000 people are affected by William syndrome. This disease occur in people from any culture and any children affected by William syndrome are socially active, endearing and friendly unlike other diseased children. Often the parents say that children who affected by this disease bring joy and happiness like normal children. However, there is also struggle with children affected with William syndrome as they can be encountered with serious cardiovascular diseases. What is William’s Syndrome William Syndrome is a genetic condition present from birth and it is caused due to the missing of certain number of genes from our chromosome. In this, one of the missing genes creates elastic, which allows the tissues and blood vessels in the body to stretch. This disease also leads to the narrowing of blood vessels due to having only one copy of this gene. The main characteristic of William Syndrome is that it affects the cardiovascular system and this can threaten the life of the diseased. Children with William Syndrome often need ongoing and costly treatment. They also need early intervention health care programs like occupational and speech therapy. This is needed as the children diseased may encounter learning and cognitive disabilities. Williams Syndrome makes the daily life of children at risk as they may suffer from spatial relations, abstract and number reasoning. For this very reason, the elderly diseased adults need housing support to live a health life. It is noticed that about 75% of people have mental retardation when encountered with William‘s Syndrome. In case of William Syndrome, most people suffering from it do not have lengthy life span. Most of the patients suffering from William Syndrome demand a need of care giver or a caring from supervised home groups. It is a fact that many of the symptoms of William Syndrome are not revealed during birth. In that case the parents or guardians have to contact health care if they identify any feature of William syndrome with their babies. History of William Syndrome The history of William Syndrome can be traced down back to 1961 when Doctor J.C. Williams detected it. Doctor William detected this deadly disorder and his colleagues made an attempt to write about the condition of four people affected by it. These patients were having strange facial characteristics with mental disability, supravalvular aortic stenosis including low cheeks , wide set mouth , widely spaced eyes and broad forehead .According to (Khan,2012) “The clinical manifestations include a distinct facial appearance, cardiovascular anomalies that may be present at birth or may develop later in life, idiopathic hypercalcemia, and a characteristic neurodevelopment and behavioral profile”. During the time between 1964 and 1975, a medical knowledge of William Syndrome was revealed, which was that the disease led to cardiovascular troubles. In the following years, this trouble was detected in many patients by the doctors. These patients also depicted some or many or all of the symptoms of this disorder. It was observed that the patients were not only infants but also adults. It was shown that the patients suffered not only from mentioned problems, but also many other physical disabilities which were not mentioned previously. It took many deep researches by the doctors to find the details of this dangerous disease. Many historians in the past understood that ‘elfin’ is the word used to connote the facial features of the people affected by William Syndrome. However, the people affected by this syndrome did not refer them to call “elfin”. Earlier when science did not have the reason for the cause of this disease, people believed that those with William disorder syndrome possessed amazing powers. It is because patients often presented a charming personality unlike normal people. Symptoms of William Syndrome Below we can see the symptom of William Syndrome: a) Delayed speech; The individual affected by William’s syndrome are often seemed to be having delayed speech problem. This may later convert into strong speaking abilities and learning while hearing skills. b) Development delay: The patients are often seen to have development delay in both the cognitive and physical field. c) Attention Deficit Disorder: The children with William Syndrome often have problem in giving attention to a certain issue. d) Feeding problem: The babies affected with this disease have problem with sucking and this leads to feeding problem. e) Finger Defect: A child with this disease often depict inward bend of fingers. f) Learning disorder: This is a major problem found in almost all children as this disease give way to cognitive disability and malfunctioning. g) Moderate to mild mental retardation: The diseased due to the defects in the brain and cognitive ability depicts mental retardation. As per (UOU,2012).“The most common symptoms of Williams’s syndrome are mental retardation, heart defects, and unusual facial features”. h) Short Height: The children born with William Syndrome has shorter height than normal ones. i) Sunken Chest : Sunken chest is another symptom found in children with this disease j) Abnormal appearance of the face: The patients of this disease have unusual appearance of the face. The Affect of William Syndrome on Brain The William Syndrome has many effects on brain as it is caused by the missing of multiple genes in the DNA. It cause abnormalities in the left frontal cortical region, left parietal cortex and cerebellum .Along with this there is problem with visual –spatial disabilities and behavioral timing of the children. According to (Mcguire,2012)“Williams syndrome, a rare birth defect that leaves children profoundly impaired in some areas of their spatial awareness yet possessed of strong language skills”. The William Syndrome disorder can be otherwise called as neurodevelopment disorder. In this disease, there is major impairment of cognitive functioning at times accompanied by infantile spasms. This infantile spasms also known as West syndrome and appears in the first year of a child and is connected with disordered neurological system. William syndrome cause mental retardation and this is due to the micro deletion on chromosome 7. This leads to cognitive impairment with different types of physical abnormalities. The MRI scanning of the brain of William syndrome diseased people showed a decrease in the brain size. Also there can be found a decrease in the cerebral white matter of the brain in comparison with the grey matter. Moreover studies have revealed that the posterior cerebrum is more defected in the person with William syndrome and they have a much larger ratio of frontal to posterior regional volume. The Affect of William Syndrome on Physique Common features of William Syndrome a) Different Facial Appearance: It is observed that most of the youths suffering from William Syndrome have similar facial traits. Their characteristics include, wide mouth, fuller lips. Upturned nose, small chin and puffiness around the eyes. b) Blood vessel and Heart problems: Most of the children who are affected with William Syndrome have some kind of blood vessel or heart problems. c) Hypercalcemia (Highblood calcium levels): Few young children with William’s Syndrome are seen to be affected with elated level of calcium in their body. D) Low birth weight: Many children affected with William Syndrome have a lower birth weight than their counterpart E) Problem with feeding: Many babies who are affected with William’s syndrome have seen to have sucking problem hence they develop as a weak baby. f) Kidney and Dental abnormalities: The kidney structure and dental structure of children affected with William Syndrome is of inferior quality.Children affected here have widely spaced death and abnormalities in the tooth appearance and shape. g) Hernia; The children suffering with William Syndrome are usually affected with hernia. h) Sensitive hearing: Children affected by this disease also has problem with hearing facility compared to other normal children. Treatment & Management of William Syndrome William syndrome is a disease with complex multisystem medical condition which needs assistance from multidisciplinary team. Unfortunately there is no cure for William Syndrome and no standard treatment for it. Since William Syndrome has multi – faceted syndromes, it is difficult to give an appropriate treatment for it. However there are few multi- disciplinary clinics in United State which gives treatment to this uncommon disease. Since William Syndrome gives away to the origin of cardiovascular disease ,a close monitoring of the cardiovascular system is recommended. The monitoring of cardiovascular problem is also needed to assess the narrowing of blood vessel, heart failure and high blood pressure. As per( NCBI,2011).“There is no cure for William’s syndrome. Avoid taking extra calcium and vitamin D. Treat high levels of blood calcium, if present.”Avoiding over consumption of calcium is also highly important for people with Williams Syndrome. The blood calcium of the patient also needs to be treated if elevated. Blood narrowing is also an abnormality faced by the patients and need to be treated according to its severity. Physical therapy also needed to be given to patient who is suffering from joint stiffness. The children with speech and cognitive abnormality also need to be treated with expert doctors. Since people with William syndrome portray different symptoms, expertise of different doctors may be needed. The Situation of Family with Affected Children William syndrome is a genetic condition which can be affected by any person in any culture. The children affected by William’s syndrome have unique facial characteristic s and mental and physical development. Since these kids have special needs, it is highly important for parents of these children to give special care and interest to them. In their article(WSA)writes that“Unlike disorders that can make connecting with your child difficult, children with WS tend to be social, friendly and endearing”. Since children affected with Williams syndrome, has various physical and mental needs, the parent of them need to be very caring and inquisitive. Many children with this disease have cardiovascular problems and the parent’s needs to extra sensitive and take children for heart check up. Usually, many of the symptoms of this disease are not obvious at birth of the child, and parents have to be extra careful once their children look and react abnormal. As they grow it can be found that these children get less attention from their peers and elders. In such case, the parents need to be extra careful in providing health care, love and affection to the affected children. It should be noted that girls affected by this disease are extra sensitive when it comes to socializing and this can lead to their sexual exploitation .According to (Rambo)“Because of their kindness, curiosity and social orientation, the girls with WS may be more vulnerable to sexual abuse”. Apart from all this, the parents of affected children need to educate themselves efficiently regarding the disease. Conclusion William syndrome is a dangerous disease and it projects many symptoms unlike many diseases. The best way for parents to detect the disease among children is to look for features of disease in them. Hence there is no cure for William disorder; things can be made better with the effort of timely parents and medical care. It is unfortunate to know that there is no cure for this disease. The couples who have family history of William Syndrome can undergo prenatal care to avoid complications. However after the delivery of the baby, the couples need to be extra- cautious regarding the development of baby. It is also fact that, parents need to educate themselves about William’s Syndrome for the well fare and health of the baby. There are many William Syndrome disease associations in United States and when parents detect the diseases in children, they need to consult with these associations. It is both the parents and health care professionals who can help the affected children to live a healthy life. In his journal(Issac,2011) mentions that,“Williams syndrome (WMS) is a rare genetic disorder with an estimated prevalence of 1 in 20 000 live births”. It is unfortunate that people affected by William syndrome has no prolonged life span. For the same reason, there are various researches going on as to the cause and effect of genetic disorder in affected children. However, early detection of the disease along with good medical care can give a quality life to the children who are affected with this syndrome. Bibliography Frambu, S. (2012). William Syndrome. In williams-syndrom.no/eng_hvaerws. Retrieved July 15, 2012, from http://www.williams-syndrom.no/eng_hvaerws.htm Issac, . "Featural versus configural face processing in a rare genetic disorder: Williams syndrome."Journal of Intellectual Disability Research 55.1110 May (2011): 1034-42. Print. Khan, Aneal. "William Syndrome." emedicine.medscape.com. Medscape, 12 Mar. 2012. Web. 15 July 2012. . Mcguire, Patrick. "A Mystery of Misinterpretation." krieger2.jhu.edu. John Hopkins University, 2012. Web. 14 July 2012. . NCBI.Williams syndrome (2011, November). In ncbi.nlm.nih.gov. Retrieved July 15, 2012, from http://www .ncbi.nlm.nih.gov/pubmedhealth/PMH0002105/ UOU."WILLIAMS SYNDROME." earn.genetics.utah.edu. The University of Utah, 2012. Web. 15 July 2012. . WSA.What is Williams Syndrome? (2012). In williams-syndrome.org. Retrieved July 15, 2012, from http://www.williams-syndrome.org/what-is-williams-syndrome Read More