Williams Syndrome
Williams syndrome also recognized as Williams-Beuren syndrome is a genetic disorder caused by a deletion of more than twenty five genes from chromosome 7. Although Williams syndrome is often non-hereditary, the chances of the syndrome being passed on if an individual with Williams syndrome has a child are fifty percent. Individuals born with Williams syndrome often possess distinctive facial features which make the syndrome easily recognized. These features include wide spaces between their teeth, a flattened nasal bridge, and puffy cheeks, this distinctive facial appearance is often referred to as an ``elfin`` appearance. It has also been presented that most children with Williams syndrome often suffer from comorbidities as well; Williams syndrome is often dual diagnosed with attention deficit hyperactivity disorder, attention deficit disorder and anxiety disorders.
Williams syndrome occurs in 1 person out of every 7, 500. An early diagnosis is important when it comes to Williams syndrome as the deletion of genes in chromosome 7 often produces more health problems than just the syndrome itself. The ELN gene found within chromosome 7 is missing which provides the elastin gene; the loss of this gene often causes cardiovascular disease and abnormalities. The deletion of this gene and Williams syndrome in general can be diagnosed with a blood test called the FISH technique; a series of probes that bind to sequences within the chromosomes that are injected to diagnose whether the elastin gene is missing. The loss of other genes within the chromosome 7 also explain the behavioural characteristics found within an individual with Williams syndrome, these behavioural characteristics include a remarkable linguistic ability, mild to moderate mental impairments, a hyper social personality and difficulties with their visual and spatial processing. Infants with Williams syndrome display many developmental delays such as a delay in language acquisition, and gross
Williams syndrome occurs in 1 person out of every 7, 500. An early diagnosis is important when it comes to Williams syndrome as the deletion of genes in chromosome 7 often produces more health problems than just the syndrome itself. The ELN gene found within chromosome 7 is missing which provides the elastin gene; the loss of this gene often causes cardiovascular disease and abnormalities. The deletion of this gene and Williams syndrome in general can be diagnosed with a blood test called the FISH technique; a series of probes that bind to sequences within the chromosomes that are injected to diagnose whether the elastin gene is missing. The loss of other genes within the chromosome 7 also explain the behavioural characteristics found within an individual with Williams syndrome, these behavioural characteristics include a remarkable linguistic ability, mild to moderate mental impairments, a hyper social personality and difficulties with their visual and spatial processing. Infants with Williams syndrome display many developmental delays such as a delay in language acquisition, and gross
References: Morris, Colleen A. M.D, Lenhoff, Howard M. Ph.D & Wang, Paul P. M.D. (2006) Williams-Beuren syndrome: research, evaluation, and treatment. USA: The John Hopkins University Press. Semel, Elenanor & Roser, Sue R. (2003) Understanding Williams syndrome: behavioural patterns and interventions. USA: Lawrence Erlbaum Associates, Inc. National Insitute of Neurological Disorders and Stroke. (2008) NINDS Williams Syndrome Information Page. Retrieved from : http://www.ninds.nih.gov/disorders/williams/williams.htm Canadian Association for Williams Syndrome