Twenty missing genes can have a devastating effect on the lives of people. This is what is true with people who have Williams Syndrome (WS). A Gloria Lenhoff, for example, can't add 5 plus 4, but would remember more than 1,000 songs. …
A Michael Williams can't go out the door without getting lost, yet can play almost anything. The brains of people with Williams syndrome are on average 15 percent smaller than normal. This size reduction almost comes from underdeveloped dorsal regions (Grice, Spratling, Karmiloff-Smith, Halit, Csibra, de Haan & Johnson, 2001). Because of the missing genes, a Williams person is liable to weakness in some functions regarding space and other abstractions. Fortunately, he is also endowed with some abilities like in processing emotion, sound and language wherein he may excel (Dobbs 2007, Bellugi, et al. 2000). As early as at birth, the Williams child comes faced with visible challenges (Science Daily, 2006). A Williams person, therefore, should not be looked upon as necessarily weird or hopeless. In music, for example, he may be able to excel if given the right preparation (williams-syndrome.org, 2008).
Williams syndrome is the deletion of one of the two #7 chromosomes and is missing the gene that makes the protein elastin, a protein which provides strength and elasticity to vessel walls. Named after cardiologist Dr. J.C.P. Williams of New Zealand, and recognized in 1961, it is a rare congenital disorder characterized by physical and development problems. WS persons usually exhibit "elfin-like" facial features, heart and blood vessel problems, irritability during infancy, dental and kidney abnormalities, hyperacusis or sensitive hearing, and musculoskeletal problems (Levitin, Menon, Schmitt, Eliez, White, Glover, Kadis, Korenberg, Bellugi & Reiss, 2003).
Williams syndrome is estimated to occur in 1/7,500 births which causes medical and developmental problems (williams-syndrome.org). It is present at birth, and affects males and females equally. It can occur in all ethnic groups and has been identified in countries throughout the world (williams-syndrome.org). Just like autism, this syndrome is a developmental disorder commonly described as having difficulties in integrating perceptual features, i.e. binding spatially separate elements into a whole. (Grice, et al. 2001).
Common features of WS
There are common features of Williams syndrome and three are most notable: characteristic facial appearance, overly friendly or excessively social personality and developmental delay, learning disabilities and attention deficit (williams-syndrome.org).
Characteristic facial appearance. Most young children with Williams syndrome are described as having similar facial features. These features which tend to be recognized by only a trained geneticist or birth defects specialist, include a small upturned nose, long philtrum (upper lip length), wide mouth, full lips, small chin, and puffiness around the eyes. Blue and green-eyed
children with Williams syndrome can have a prominent "starburst" or white lacy pattern on their iris.
Overly friendly or excessively social personality. Individuals with Williams syndrome have a very endearing personality. They have a unique strength in their expressive language skills, and are extremely polite. They are typically unafraid of strangers and show a greater interest in contact with adults than with their peers. This behavior is opposite to that seen in autism (Bellugi, et al. 1999). This is the same observation noted in ...
Cite this document
(“Williams Syndrome Essay Example | Topics and Well Written Essays - 2000 words”, n.d.)
Retrieved from https://studentshare.net/nursing/309947-williams-syndrome
(Williams Syndrome Essay Example | Topics and Well Written Essays - 2000 Words)
“Williams Syndrome Essay Example | Topics and Well Written Essays - 2000 Words”, n.d. https://studentshare.net/nursing/309947-williams-syndrome.
Generally, if there is a heritable factor, then the cancer will occur earlier in life than a sporadic condition. However, it is important to note that people do not inherit breast cancer, but rather an increased likelihood of having the disease . Around 20 – 30% of women who have breast cancer have the disease occurring within their family, however there are also many environmental risk factors, such as use of alcohol or exposure to radiation .
This syndrome is not associated with one single cause but may occur due to many different causes. The temporomandibular joint is the joint which is formed between the mandible which is commonly referred to as jaw and the temporal bone which is a bone of the skull.
Functionally, it synthesizes substances of almost all clotting factors necessary in coagulation process. Meanwhile, vitamin K, which is synthesized in the intestine by bacteria, is also necessary for hepatic synthesis of prothrombin, serum prothrombin conversion accelerator or factor VII, plasma thromboplastin component or factor IX, factor X, and protein C.
Gentle forms of “out-of-the-body” experiences generally fall within the dissociative disorder categories. In different parts of the world, there have been proofs of various disorders that have been marked as instances of de-personalization, which differs greatly from those typically seen in the West.
The pathophysiology of the disease is largely credited to insulin opposition with extreme instability of fatty acids incriminated. This assemblage of metabolic uproars and risk factors associated with cardiovascular disease were identified in 1920’s. In the past two decades, there has been an increase in cases of metabolic syndrome due to rising cases of obesity and diabetes (Codario, 2011).
It is indicated that, “Steven Johnson Syndrome (SJS) and toxic epidermal necrolysis (TEN) are acute, severe, life threatening diseases with a mortality rate reaching 30 %” (Wolf, 2010, p. 154). The disorder is becoming prevalent in several settings due to medication complications.
However, some recent studies have proposed that the face processing of WS patients are exactly like normal individuals. In the present paper, an attempt to resolve the ongoing debate on WS face processing was made by means of three experiments. In specific, developmental trajectories from childhood to adolescence/adulthood were made for two of the experiments.
ns vary from one autistic child to another and the symptoms of certain other disorders such as Rett’s and Asperger’s disorder often overlap with that of autism.
The key clinical features that are identified as the child grows include, abnormal social interaction such as
Steven Johnson Syndrome and toxic epidermal necrolysis are acute, severe, life threatening diseases with a mortality rate reaching 30%. The disorder is becoming prevalent in several settings due to medical complications. This is apparent in the increasing proportion of individuals who are reporting cases of skin and mucous membrane damage.
The author of the paper states that the mechanism causing all the associated features of the syndrome is not known. The syndrome may involve migration defects of neural-crest derived tissues, and in particular the development of third and fourth branchial pouches is hindered. The thymus gland is also affected.
10 Pages(2500 words)Essay
GOT A TRICKY QUESTION? RECEIVE AN ANSWER FROM STUDENTS LIKE YOU!
Let us find you another Essay on topic Williams Syndrome for FREE!