Williams Syndromes, Research Paper Example

Definition and Description of Disorder

Williams Disorder is defined as a genetic abnormality that is defined by a number of genes that are missing, which may lead to serious problems during human development (PubMed Health, 2009). With this condition, it is likely that parents will pass on this condition to their children in about one-half of all cases, and the odds of diagnosis are approximately one in 8,000 cases (PubMed Health, 2009). The primary abnormality is associated with the gene that is responsible for producing a protein known as elastin, which enables the stretching of tissues and blood vessels as needed to accomplish their activities (PubMed Health, 2009).

Key Diagnostic Symptoms of Disorder

In evaluating Williams Syndrome in greater detail, it is important to recognize that the disorder leads to a number of symptoms, including the following: “dysmorphic facial features, a hoarse voice quality, heart valve problems, kidney problems, hypersensitivity to sound, joint abnormalities, an overfriendly personality, and mild to moderate mental retardation. In terms of language abilities, children with Williams syndrome show a delay in language development” (Rice et.al, 2007, p. 18). Under these conditions, the disorder is largely significant because developmental difficulties that may complicate growth and maturity in very important ways (Rice et.al, 2007). Therefore, it is important to address these challenges and how they impact children who are born with this condition, and what it signifies for long-term development through childhood and even into the adult years (Rice et.al, 2007). It is important to address these challenges and the impact of these symptoms, not only on human development, but also on the ability of children with Williams Syndrome.

Description of how Problem Affects Speech, Language, or Communication

Williams Syndrome represents a number of challenges for children diagnosed with this condition, and in terms of language development, they are often behind their peers (Rice et.al, 2007). In evaluating patients with this condition, it was noted that “The children with Williams syndrome made errors that were developmental in nature; that is, typically developing children made the same errors at early ages. The developmental nature of these errors suggest a delayed rather than deviant pattern of linguistic development” (Rice et.al, 2007, p. 18). A variety of studies have explored this phenomenon in great detail, and demonstrate the different language deficiencies that tend to exist in patients with Williams Syndrome, and that also demonstrate other challenges that must be considered with this genetic abnormality (Mervis and Becerra, 2007). For individuals with Williams Syndrome, it is also important to note that language difficulties or abnormalities may also lead to unique circumstances involving the ability to adapt socially to different situations, which may create new challenges for this population group (Meyer-Lindenberg et.al, 2005). For example, it has been determined that some members of this group possess a remarkable ability to be successful in communicating with others in a social context, in spite of their language difficulties (Meyer-Lindenberg et.al, 2005). This presents new alternatives to explore the dimensions of this condition, and to determine how individuals respond according to different neurological processing methods that reflect this disease (Meyer-Lindenberg et.al, 2005).

Summary of Journal Article

An article by Leyfer et.al (2009) addresses the relevance of anxiety disorders in those persons who have been diagnosed with Williams Syndrome, and how this condition impacts the increased vulnerability associated with anxiety disorders. This article is instrumental in determining that the missing gene sequences which are prevalent in Williams Syndrome represent a marked increase in the diagnosis of anxiety disorders in many members of this patient population, which is an important finding in supporting the ability to manage this condition more effectively (Leyfer et.al, 2009). The study explores the frequency of anxiety disorders, and supports the ability to associate Williams Syndrome with anxiety symptoms in many sufferers (Leyfer et.al, 2009). Scientists have attempted to better understand the connection between Williams Syndrome and anxiety disorders, and this correlation remains unsolved at this juncture (Leyfer et.al, 2009). Therefore, the article considers the fact that additional research within this area is required in an effort to determine how to best approach a diagnosis of Williams Syndrome from a comprehensive point of view, and to expand research objectives and options to improve the overall understanding of Williams Syndrome and its impact on children in all stages of development, including neurological development and its relationship to anxiety within this specific patient population (Leyfer et.al, 2009).

References

Leyfer, O., Woodruff-Borden, J., and Mervis, C.B. (2009). Anxiety disorders in children with Williams Syndrome, their mothers, and their siblings: implications for the etiology of anxiety disorders. Journal of Neurodevelopmental Disorders, 1(1): 4-14.

Mervis, C.B., and Becerra, A.M. (2007). Language and communicate development in Williams Syndrome. Mental Retardation and Developmental Disabilities Research Reviews, 13: 3-15.

Meyer-Lindenberg, A., Hariri, A.R., Munoz, K.E., Mervis, C.E., Mattay, V.S., Morris, C.A., and Berman, K.F. (2005). Neural correlates of genetically abnormal social cognition in Williams Syndrome. Nature Neuroscience, 8(8): 991-993.

PubMed Health (2009). Williams Syndrome. Retrieved from http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002105/

Rice, M.L., Warren, S.F., and Betz, S.K. (2007). Language symptoms of developmental language disorders: an overview of Autism, Down Syndrome, fragile X, specific language impairment, and Williams                Syndrome. Applied Psycholinguistics, 26: 7-27.