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 motor skills. An infant will often have a low birth weight and have difficulty when it comes to eating; which later causes the baby to grow at a slower pace than is considered normal. Infants will also exhibit signs of colic, have very overfriendly temperaments and oversensitivity to hearing. As this individual grows older they will more than likely develop a learning disability especially when it comes to a visual or spatial task. Children with Williams syndrome often find it hard to relate to peers and make friends as their accelerated language often corresponds more with adults.
Individuals with Williams syndrome often possess extremely varied strengths and weaknesses, and these strengths and weaknesses are not found in every single individual with Williams. Individuals with Williams syndrome often have a language delay, which is followed by a remarkable spurt. They have an extensive and interesting vocabulary and are often extremely interesting to converse with. Although not all people with Williams possess the same ability in linguistics, their area of linguistics and language is still surprisingly more advanced than those who do not have Williams syndrome. This advanced language ability can also be repetitive and unfocused, and some people with Williams are nonverbal. The development of cardiovascular diseases and manifestations are one of the initial identifications of the syndrome, the most common cardiovascular abnormality is supravalvular aoetic stenosis, or SVAS for short, as mentioned before this disease is caused by the missing elastin gene. This cardiovascular disease develops within the heart valves, and is caused by a narrowed aortic valve, which is the artery that carries your blood.
There are consistent and significant abnormalities within an individual with Williams syndrome`s brain. The cerebellum, left frontal cortical and right parietal cortex regions are affected due to the deletion of genes, these abnormalities often cause...
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
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