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Williams Syndrome - Essay Example

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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. …
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Williams Syndrome
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Williams Syndrome

Williams Syndrome

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 ... Read More
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