Williams Syndrome Essay

Introduction
Williams Syndrome, also known as Williams-Beuren disorder is a congenital genetic disorder characterized by a deletion in parts of chromosome 7. It is “a multisystem disorder, caused by deletion of the Williams-Beuren syndrome chromosome region, spanning 1.5 to 1.8 million base pairs and containing 26 to 28 genes.” (Pober, 2010, p 239)
Demographics
Williams Syndrome affects 1 in 10,000 children throughout the world and an estimated 20,000 to 30,000 in the United States. (Williams Syndrome Association, 2014). There is no prevalence between men or women affected by Williams Syndrome and it is not pertinent to any specific culture.
Causes
To date there is no known reason for the gene deletion to occur, however it was first thought
However due to the deletion being within the same chromosome these individuals do have common features.

Typical Presentation of Diagnosis Individuals diagnosed with Williams Syndrome have many distinct attributes ranging from physical and social to medical and developmental. Physically they are thought to look pixie or elfin like due to facial features such as a “small upturned nose, long philtrum (upper lip), wide mouth, full lips, small chin, and puffiness around the eyes.” (W.S.A., 2014) They are extremely sociable people with a “unique strength in their expressive language skills” (W.S.A., 2014)
Severe presentations Individuals with more deletions tend to have more severe cases which affect major organs of the body. These developmental abnormalities are more physiological and include heart and blood vessels problems, hypercalcemia, dental abnormalities, and musculoskeletal problems and cognitive impairments. (W.S.A.,
With corrective surgery of life-threatening organ deficiencies and treatments including Occupational, Physical, and Behavioral therapies, individuals diagnosed with Williams Syndrome can lead a full and productive life.
Treatment
A treatment option for Williams Syndrome depends on the problems presented. In cases of organ abnormalities corrective surgery and regular checkups are generally required. Most cases of Hypercalcemia resolve on their own however in severe cases dietary and medical intervention can be used. (W.S.A., 2014) Lifelong Occupational therapy, Physical therapy, and Behavioral therapy are usually required to address issues like hyperacusis, social disorders, and musculoskeletal disorders such as hypotonia.
Implications of Occupational Therapy
Music