Williams Syndrome - Essay Example

Hope with Music in Williams Syndrome (WS) 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. And a Meghan Finn can't tell left from right, but studies music in college (CBS News, 2004). In other words, these are people born with defects and yet, they have plus factors going for them, musicality for one. It is music that can get them through a very tough life, different from the normal lives of others. 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). This paper looks into what Williams syndrome is, the symptoms, how it affects the brain, and mainly the strong connection to music that these patients have. Williams syndrome described 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 Science Daily (2006) that reported WS individuals as capable of remembering names and faces with ease and showing strong empathy and have fluent and exceptionally expressive language. Yet, they are confounded by the visual world around them: While they can't scribble more than a few rudimentary lines to illustrate an animal, they can verbally describe one in almost poetic detail (Science daily, 2006). Developmental delay, learning disabilities. Most people with Williams syndrome have some degree of intellectual handicap. Young children with Williams syndrome often experience developmental delays. Milestones such as walking, talking and toilet training are often achieved somewhat later than is considered normal. Distractibility is a common problem in mid-childhood, which appears to get better as the children get older (williams-syndrome.org). Older children and adults with Williams syndrome often demonstrate intellectual "strengths and weaknesses." There are some intellectual areas such as speech, long term memory, and social skills in which performance is quite strong, while other intellectual areas such as fine motor and spatial relations are significantly deficient (Bellugi et al. 2000). Scientists place them as mentally retarded with about 95% with IQs in the mild to moderate range (Bellugi et al. 2000). These individuals also tend to have limited writing and arithmetic skills. Some display developed abilities to compose stories and are found comfortable narrating. Simply put, William's syndrome people have cognitive impairments but many show signs of having unusual musical abilities. Music therapy is a growing area of therapeutic treatment for these people but a number of music teachers will not take them as students because they can't read notation. How WS affects the brain Identified more than 40 years ago, Williams syndrome arises from a faulty recombination event during the development of sperm or egg cells. As a result, almost invariably the same set of about 20 genes is deleted from one copy of chromosome seven (Science Daily, 2006). In other words, Williams people are missing a group of genes from one of their chromosomes. The typical problems they deal with are both cognitive and behavioral including trouble with simple addition and subtractions, spacial relationships, logical reasoning, and abstract ideas. They have the condition called "hyperacusis" that allows them to hear the faintest sounds. Many of them have perfect pitch Williams syndrome is a perfect example where a genetic predisposition interacts with the environment to sculpt the brain in unique ways," said Professor Allan L. Reiss. He is the Director of the Center for Interdisciplinary Brain Sciences Research at Stanford University and a senior author of a study looking into the connection between the syndrome, the brain and music (Science Daily, 2006). WS children may have significantly poorer visuo-spatial and motor skills, but they are not uniformly poor in all areas of nonverbal abilities. Their performance is superior on a task of face recognition and on tasks requiring recall of verbal material (Udwin & Yule, 1991). Bellugi et al. (2000) would call the first as a need to connect to people so that their eye contact with others is quite penetrating. Healthy adults and infants are said to display electroencephalographic (EEG) [gamma]-band bursts around 40 Hz when the brain is required to achieve binding spatially separate elements into a whole, or integrating perceptual features. However, with WMS, there are differential abnormalities (Grice et al. 2001). They do not approximate this figure. Specifically, according to (Bellugi et al. 1999), a genetic hallmark of WS - is a deletion on chromosome band 7q11.23. Williams syndrome is also associated with specific neuromorphological and neurophysiological profiles: proportional sparing of frontal, limbic and neocerebellar structures is seen using MRI; and abnormal functional organization of the neural systems that underlie both language and face processing is revealed through studies using event-related potentials. The non-uniformity in the cognitive, neuromorphological and neurophysiological domains of WMS make it a compelling model for elucidating the relationships between cognition, the brain and, ultimately, the genes. Udwin and Yule 's (1991) study found that children with the syndrome showed higher rates of behavioral and emotional difficulties when compared with the control group children, particularly in terms of concentration difficulties, excessive anxiety, and poor relationships with peers Dobbs (2007) explains the syndrome as - "rising from a genetic accident during meiosis, when DNA's double helix is divided into two separate strands, each strand then becoming the genetic material in egg or sperm. Normally the two strands part cleanly, like a zipper's two halves. But in Williams, about 25 teeth in one of the zippers - 25 genes out of 30,000 in egg or sperm - are torn loose during this parting. When that strand joins another from the other parent to eventually form an embryo, the segment of the DNA missing those 25 genes can't do its work. As a result, the cognitive deficits find many with Williams syndrome having so vague a concept of space that even as adults they will fail at six-piece jigsaw puzzles, easily get lost, draw like a preschooler and struggle to replicate a simple T or X shape built with a half-dozen building blocks. Dobbs (2007) further said that for lack of abstract thinking skills - these deficits generally erase about 35 points from whatever I.Q. the person would have inherited without the deletion. Since the average I.Q. is 100, this leaves most people with Williams with I.Q.'s in the 60s. Though some can hold simple jobs, they require assistance managing their lives. The strong connection to music What is the connection to music Children with Williams syndrome just love music and will spend hours listening to or making music. Despite averaging an IQ score of 60, many possess a great memory for songs, an uncanny sense of rhythm, and sensitive sense of hearing that can differentiate hair line differences between humming sounds (Science Daily, 2006). From when he was very small, music was the thing that calmed him down. And music is what taught him to walk. He didn't walk; he marched to music when he was 4-and-a-half. This was Terry Monkaba describing her WS child to Morley Safer of 60 Minutes (Cbsnews, 2004). Morley Safer was reporting on people diagnosed with Williams Syndrome over CBS news entitled, "A Very Special Brain." According to Dr. Barbara Pober who runs a Williams Syndrome clinic at the Yale University School of Medicine, WS persons activate a greater part of the brain which may explain their affinity to music - "Folks with Williams Syndrome activated more brain areas and not the same area that you or I would activate. So, it was an overall greater activation. The underlying differences could explain why persons with Williams Syndrome are so much more connected to music, seem to respond to music differently." (CBS News, 2004). Affinity to music. Organizations having to do with WS children find that their wards often think music is part of their being. This is explained as an inclination towards music and things musical. It does not absolutely apply to all of them, however, but for most of them, music can help overcome their difficulties in life. For example, where music is playing at levels that would otherwise bring them to tears, some children with Williams syndrome have been known to overcome their acute sensitivity to loud noises in order to join others on a dance floor. The same can sometimes be said for children with Williams syndrome in a classroom. They are often able to stay on task during a "musical" activity, for much longer times than would be possible during non-music activities. This can be an important piece of information for an educator who is working with a Williams child who has a limited attention span. Individuals with Williams syndrome usually enjoy participating in musical activities, whether or not, they show increased musical abilities (williams-syndrome.org). Musically gift or affinity. More than the general population, individuals with WS seem to have a higher rate of musicality, and in some instances musical ability. Among WS people are those who have increased levels of musicality, but there are also those who are not. To be sure, it is the affinity and love of music, rather than musical "giftedness" that appears to be a common trait in individuals with WS. There is a distinction between the two. It was also found that among those with Williams syndrome, there are more who have perfect pitch than among individuals in the general population. Musicality through education. Educating the child with WS when it comes to music may be interesting as well as challenging. There are early childhood delays and medical problems so that as time goes, it is possible that many common WS traits will emerge later. For example, a child with WS who appears to have little interest in music at age three may exhibit a high level of interest or an ability at age 11. There are in fact stories about these children suddenly composing songs (New York Times, 2002). A child's musicality can potentially be brought out by circumstances, and thus affected by their educational experiences. Music Therapy benefits. Will therapy in music come to the rescue It's possible, according to Science Daily (2008) as music therapy uses an interactive musical setting to achieve specific educational goals. With an affinity toward music, the child with WS may be enabled to be more engaged and have a higher retention of success. This is only when difficult tasks are reinforced with music. However, it is found that as with any type of therapy, not all children respond in the same way. For this reason, it is very important to have a thorough Music therapy assessment performed on the child with Williams syndrome. Accordingly, this assessment should be performed by a licensed Music Therapist. It is also recommended that the evaluation includes time with the child in the current classroom. Conclusion Williams people know they are different and that something is wrong with them but it is not their fault. Yet, people make fun of them without as much as trying to understand these people. One Meghan is living in California, and attends regular classes at a local college, where she has learned to ignore people who make fun of her. "I'm not gonna be pushed or shoved or anything like that - because nothing's gonna pass me by. I'm a tough woman," says she (CBS news, 2004). The remarkable musical and verbal abilities of individuals with Williams syndrome, and their tendency to be very sociable, has lead to the suggestion that children with Williams syndrome were an inspiration for folktales and legends, as these people are often musicians and storytellers. A very unique characteristic of Williams syndrome is an affinity to music and often, people with Williams syndrome are naturally drawn to music. Music has been shown to help children with Williams syndrome overcome development delay and learning disabilities For many WS children, the Williams Syndrome Association suggests that a thorough music therapy assessment be performed by a licensed music therapist. If music therapy is deemed appropriate for a child with Williams syndrome, the music therapist should become a part of the child's instructional team. The Williams Syndrome Association also states that nearly all children with WS can benefit from individual speech, occupational and physical therapy. References A Music Camp for Those Afflicted but Gifted, Too. New York Times. August 26, 2002. Retrieved May 1, 2008, from http://query.nytimes.com/gst/fullpage.htmlres=9406EEDA103CF935A1575BC0A9649C8B63&scp=2&sq=&st=nyt Bellugi, U, Lichtenberger, L. Mills, D. Galaburda, A & Korenberg, J.R. (1999). Bridging cognition, the brain and molecular genetics: evidence from Williams syndrome. Trends in Neurosciences. Volume 22, Issue 5, 1 May 1999, Pages 197-207. doi:10.1016/S0166-2236(99)01397-1. Copyright 1999 Elsevier Science Ltd . Bellugi, U. Lichtenberger, L. Jones, W. Lai Z. & St. George, M. (2000). The Neurocognitive Profile of Williams Syndrome: A Complex Pattern of Strengths and Weaknesses. Journal of Cognitive Neuroscience. 2000;12:S7-S29. The MIT Press. Retrieved May 4, 2008, from http://jocn.mitpress.org/cgi/content/abstract/12/suppl_1/S7 CBS news. A Very Special Brain. Morley Safer Reports On People Diagnosed With Williams Syndrome. 60MinutesII. July 28, 2004. Retrieved May 3, 2008, from http://www.cbsnews.com/stories/2004/01/06/60II/main591710.shtml Dobbs. D. The Gregarious Brain. The New York Times. July 8, 2007. Retrieved May 3, 2008, from http://www.nytimes.com/2007/07/08/magazine/08sociability-t.html_r=1&n=Top/Reference/Times%20Topics/Subjects/C/Children%20and%20Youth&oref=slogin Grice, S. J; Spratling, M. W; Karmiloff-Smith, A; Halit, H; Csibra, G; de Haan, M & Johnson, M. H. (2001). Disordered visual processing and oscillatory brain activity in autism and Williams Syndrome. Neuroreport. 12(12):2697-2700, August 28, 2001. Levitin, D.J. Menon, V. Schmitt, J.E. Eliez, S. White, C.D. Glover, G.H. Kadis, J. Korenberg, J.R. Bellugi, U. & Reiss, A.L. (2003). Neural Correlates of Auditory Perception in Williams Syndrome: An fMRI Study. NeuroImage. Volume 18, Issue 1, January 2003, Pages 74-82. doi:10.1006/nimg.2002.1297. Music and Williams syndrome. Retrieved May 2, 2008 from williams-syndrome.org Website: http://www.williams-syndrome.org/forteachers/musicandws.html Science Daily. Williams Syndrome, The Brain And Music. Oct. 5, 2006. Retrieved May 5, 2008. http://www.sciencedaily.com/releases/2006/10/061003191006.htm Udwin, O & Yule, W. (1991). A cognitive and behavioral phenotype in williams syndrome. Journal of Clinical and Experimental Neuropsychology, Volume 13, Issue 2 March 1991, pages 232 - 244. DOI: 10.1080/01688639108401040. Retrieved May 3, 2008, from http://www.informaworld.com/smpp/contentcontent=a789214067db=all Weinberger, Norman M. (1998). "Musical Ability as an Independent Intelligence." University of California. Musica Research Notes. Vol 13. Fall 1998. http://www.musica.uci.edu/mrn/V5I3F98.html#independent What is Williams syndrome. Retrieved May 2, 2008 from williams-syndrome.org Website: http://www.williams-syndrome.org/about/mediapacket.pdf Williams Syndrome Foundation(USA). University of California. Irvine, CA 92697-2300 (949) 824-7259. http://www.wsf.org Read More