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Williams Syndrome in Psychology - Research Paper Example

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The presentation of genetic disorders can be varied, yet in some ways, similar in manifestation. One of the most popular conditions that had been well-studied is Down syndrome, with its familiar facial features and endearing personality; this group is widely accepted in most societies…
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Williams Syndrome in Psychology
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?William Syndrome: A Psychological Concept Introduction The presentation of genetic disorders can be varied, yet in some ways, similar in manifestation. One of the most popular conditions that had been well-studied is Down syndrome, with its familiar facial features and endearing personality; this group is widely accepted in most societies. Yet, another similar condition can be compared with Down Syndrome, the Williams Syndrome--also known as William-Beuren Syndrome. Rare in characteristic, this type of syndrome was first recognized in the early 1960’s, where four young samples had been identified with such conditions, as all had presented “supravalvar aortic stenosis...mental retardation” and similar facial features. By such discovery, the said disorder had been named in honor of one of its founder, Dr. Williams--a cardiologist (Bellugi, Wang, & Jernigan, 1994, p. 3). Other than these initial diagnostic parameters, Williams syndrome is also characterized by hypercalcemia of unknown origin, accompanied by distinct cognitive and behavioral profile (Khan, Calureriu, Huang, & Robin, 2011). At this point, such concepts seemed to be more focused on the pathophysiological context of the said condition, disregarding the psychological elements of William syndrome. In appeal, this group is said to be hypersociable, where they are into over-friendliness, as they appear to lack the adaptive behavior of covertly following the unwritten social rules common in most societal structures (Udwin, Davies, Howlin, & Stinton, 2007). With such social trait, one can assume that the interpersonal skills generated by individuals with William syndrome are adequate for daily public associations, yet, a number of literatures presented otherwise. The overtly sociable attitude by groups with William Syndrome may be acceptable in society, but their psychological status may not be as stable as most believed. This paper seeks to establish the paradoxical traits that individuals with Williams Syndrome seemed to have; present common psychological features and find patterns among such psychological manifestations. Biological Origins and Clinical Features The etiologic origins and pathological process seemed to be pointed back to genetic deficits. Generally thought of as a neurodevelopmental condition, most experts identified the “deletion of ~25–30 genes...(which span) about 1.5 megabases in the q11.23 region of chromosome 7” as the exact cause of the William Syndrome (Deutsch, Rosse, & Schartz, 2007, p. 903). Genetic in function, such dysfunction in the genetic level can significantly cause a series of physiological changes upon human anatomic development, especially in organ tissues of the heart. As this is genetic in origin, the defective genetic material is said to have a hereditary feature, where there can be a 50% chance that individuals might pass this DNA product to the next generation. Although random in pattern, studies showed that 1 infant in every 80,000 births can have this syndrome--a highly rare occurrence (“William Syndrome,” 2011). Like most genetic disorders, people with such condition can easily be distinguished due to their common appearance, where their faces may have an elfin quality, with prominent forehead and eyes, ample cheeks, expansive mouth, small nose, and broad earlobes (Semel & Rosner, 2003). In line with this, overall presentation of the condition can be divided into four sections: “cognitive development, language, auditory function, and visuospatial function” (Khan, Calureriu, Huang, & Robin, 2011). In context, cognition and language functions are quite delayed for their age, with highly sensitive hearing capabilities to auditory stimuli, and a disassociation between what is seen and its normative interpretations. As such, environmental adaptation of these groups is delayed, compared to their normal counterparts. Aside from these clinical symptoms, those with William Syndrome are also plagued with a number of medical disorders, which may range from clinically serious cardiac malformations, gastrointestinal disorders, and disproportionate musculature--accounting for joint limitations and difficulties of movement (Semel & Rosner, 2003). In an unfortunate sense, Williams Syndrome affects not only on the physiological side, but also on developmental adaptation in daily living. Neuropsychological Outlook As the genetic basis had been proposed to cause Williams Syndrome, such interruption in optimal physiological development can extend to neurological features, manifesting cognitive shortcomings through irregularities in behavioral patterns. As identified by Freides (2001), this type of condition can be divided into four psychological sectors: “mental retardation, relative language...grossly impaired spatial cognition, and high sociability” (p. 483). Further discussion will clarify the extent that such conditions may demonstrate, especially on the three latter concepts. In particular, varying degrees in language capabilities are said to be delayed, and in some areas, seriously underdeveloped, leaving these groups at difficulties to adapt independently. In one report, it exhibits that the development of a highly sociable nature in Williams Syndrome is said to be developed early on in life, where their hypersociability relegates patterns of excessive efforts to establish and maintain social contact, despite the lack of cooperation on the other end of the interaction (Galaburda, 2001). The likelihood that other deficits in cognitive functions, especially in language abilities are effectively concealed behind the sunny nature that this group portray. In early child development, studies had found out that the ability of children with Williams Syndrome to communicate their wishes, by referential pointing on desired objects, appeared to be delayed; yet, this group is well-able to verbally express a referential language to specific objects. In relative terms, individuals with Williams Syndrome have delays in two areas: “pointing gestures...(and) attention to both a communicative partner and an object” (Mazzocco & Ross, 2007, p. 221). With such deficits, children and even the older ones struggle at simultaneously communicating and concentrating on other matters, as well as referentially gesturing their intents on other people. In another language concept, the semantics in spatial language patterns is also affected in individuals with Williams Syndrome. Perceptions related to spatial prepositions are inadequate, in relation with their inability to cognitively process language vocabulary in straightforward basis (Mazzocco & Ross, 2007). As such, individuals cannot follow through with simple instructions, especially in areas in translating them into definitive actions and results. Impairments in some areas in language are not the only areas that need attention, as groups with Williams Syndrome have poor motor abilities, where the coordination between spatial perceptual and motor dexterity are inconsistent, hence, distance and directional discrimination is affected, leaving them unable to fend for themselves (Udwin, Davies, Howlin, & Stinton, 2007). As daily activities require better motor coordination and sound spatial judgment in performing simple and complex household tasks, individuals with Williams Syndrome require assistance and further training before they can do household work without the danger of hurting themselves in the process. In relevant manner, Williams Syndrome is not only hampered by lower adeptness in language parameters; their daily activities are interrupted by incompetent muscle coordination and movement, as well as defective spatial language and organization in translating instructive words into relevant deeds. Adverse Psychological Perspective Amidst the overly friendly disposition of individuals with Williams Syndrome, underlying negative feelings may surface, likely demonstrated in overt acting up behaviors. In a study on the psychological disposition of children with Williams Syndrome, a number of outcomes yield a contrasting feature to the sociable nature of this group. They are said to be characterized by attitude of “distractability, and negative mood, and...lower persistence and threshold of excitability” (Mervis & Klein-Tasman, 2000, p. 154). The results demonstrated the low tolerance for inert control commonly seen in children with normal psychological functions. Although, these can be substantially managed as children are still growing up and adjusting to environmental fluctuations. In a realistic sense, the empathetic and sociable attitude presented by people with Williams Syndrome could have assisted them in adapting well to a variety of situations, yet, studies reported otherwise. Semel and Rosner (2003) grouped together the common psychological problems encountered in individuals with Williams Syndrome: “fears and anxieties, distractibility and attentional problems, impulsivity, and low frustration tolerance” (pp. 253-264). In more ways, the combination of internalizing and externalizing attitudes may have resulted from inadequacies in cognition and psychological capacities, resulting in behavioral discrepancies. Internally, individuals may possess a number of emotions in excess, as in fears and anxieties. As presented by Semel and Rosner (2003), the prevalence of such exaggerated emotions is primarily experienced by individuals with Williams Syndrome, with a study yielding outcomes of 81%, although the degree of anxiety may vary, ranging anxious edginess to excessive worrying to worse cases of panic and phobias. Udwin, Howlin, and Stinton (2007) identified three distinct sources for such extreme reactions, including additional situational demands that pressure this group to adapt on situations despite their cognitive limitations, alterations in usual patterns of daily activities and expectations, or when they are threatened by strict social norms that can be inflexible in broadly accommodating their psychological situation. As such, these individuals are prone to experience anxiety episodes of mild causes. On the external side, deficits in language and spatial perceptions, in some ways, seemed to affect the level of concentration that individuals with Williams Syndrome may manifest. In a study on samples with such condition, a 100% result had been generated, where all subjects had been reported to be easily distractible. Additionally, these are reported to occur more frequently with background and auditory stimuli. Other than this behavior, their ability to control the impulse to act is either delayed or dysfunctional; thus, they are liable to risk their safety in pursuit of brief, impulsive interest to act--which can be outwardly conducted in aggressive behaviors. Lastly, as they have low level of tolerance for having their wishes denied, they may respond in unpleasant manners, possibly by throwing temper tantrums and acting out acts, which seemed out of character with their sunny demeanor as highly sociable people (Semel and Rosner, 2003). Like any other children, these individuals also possess adverse behaviors of psychological origins; yet, those with Williams Syndrome take them towards extreme levels. Conclusion All in all, the genetic factor in Williams Syndrome had affected not only the physical features prominent in such condition, in a more significant term, its impact of neuropsychological aspect relegates seemed to affect this group’s individual lives more. As their developmental abilities to perform normal language comprehension, perceptions in spatial language, and motor coordinated movements are largely affected, their subsequent adaptions to harsh realities of life are also somehow diminished. On the internal part, they are unable to cope with situational fluctuations, rendering them too fearful to venture out without assistance, constantly worrying over insignificant objects and events. Externally, such inner turmoil is deflected by behaviorally acting out in extreme measures. For one, some of them tend to act out or throw some tantrums when their wishes are not granted, showing the immaturity (even in adults) due to underdeveloped psychological capacities. In other times, the low tolerance for frustrated emotions is channeled through different manner, where others become aggressive when socially interacting with others. In unfortunate times, their highly sociable dispositions are exploited, especially since their sense of adapting to social climate is not as developed as in normal individual groups. By this, people with Williams Syndrome are prone to be abused by others, accounting for further possibilities of psychological disturbances, translated to extreme behavioral patterns. This type of group needs understanding and active empathy, and not the patronizing facade that pities them, and empowers them to be independent and to socially adapt. On this note, full awareness is the key to psychologically handle people with Williams Syndrome. References Bellugi, U., Wang, P.P., & Jernigan, T.L. (1994). Williams Syndrome: An unusual neuropsychological profile. Retrieved from http://crl.ucsd.edu/courses/commdis/pdf/Bellugi-et-al.pdf Deutsch, S.I., Rosse, R.B., & Schartz, B.L. (2007). Williams Syndrome, A genetic deletion disorder presenting clues to the biology of sociability and clinical challenges of hypersociability. CNS Spectr, 12 (12), 903-907. Retrieved from http://mbldownloads.com/1207CNS_Deutsch.CME.pdf Freides, D. (2001). Developmental disorders: A neuropsychological approach. United States of America: Blackwell Publishers. Galaburda, A.M. (Ed.). (2001). Journey from cognition to brain to gene: Perspectives from William Syndrome. United States of America: Massachussets Institute of Technology. Khan, A., Calureriu, O., Huang, L.H., & Robin, N.H. (2011). Williams Syndrome. WEbMD. Retrieved from http://emedicine.medscape.com/article/893149-overview Mazzocco, M.M., & Ross, J.L. (Eds.). (2007). Neurogenetic development disorders: Variation of manifestation in childhood. United States of America: Massachusetts Institute of Technology. Mervis, C.B., & Klein-Tasman, B.P. (2000). Williams Syndrome: Cognition, personality, and adaptive behavior. Mental Retardation and Developmental Disabilities, 6, 148-158. Retrieved from http://www.uth.tmc.edu/clinicalneuro/institute/2005/Mervis%27%20pdf%27s/Mervis%20%20Klein-Tasman%20WS%20MRDDRR%202000_Mervis.pdf Semel, E., & Rosner, S.R. (2003). Understanding Williams Syndrome: Behavioral patterns and interventions. United States of America: Lawrence Erlbaum Associates. Udwin, O., Davies, M., Howlin, P., & Stinton, C. (2007). Adults with Williams Syndrome guidelines for families and professionals. Tonbridge, Kent: The Williams Syndrome Foundation. William Syndrome. (2011). MedlinePlus. Retrieved from http://www.nlm.nih.gov/medlineplus/ency/article/001116.htm Read More
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