williams beuren syndrome genetic disorder

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 behaviours such as an individual being hyper social. An individual with Williams syndrome displays difficulties with their visual and spatial recognition as this processing is usually manifested within the parietal cortex`s in the brain.

Studies have also concluded that there is a disruption in their auditory functioning, which often results in hearing loss, which could begin as early as age twenty-one. Another part of the brain that is affected is the amygdala, it is shown that individuals with Williams syndrome have heightened volumes within their amygdale. The amygdala relates to sociability and regulates an individual’s sense of fear, and this heightened volume within their amygdala lessens the fear they feel in social situations and is often why individuals with

Williams are so hyper social, and why they so often talk to anyone, including people they don`t know. Although there is no cure for Williams syndrome but based on an individual`s particular symptoms within the syndrome various treatments can be used to help their quality of life. On the rare occasion that an individual with Williams syndrome is non verbal, many different forms of communication can be taught such as sign language, gestures and communication tablets, or better known as picture boards. Further advancements in technology allow individuals with communication difficulties to communicate through computer programs.

Individuals with Williams syndrome who possess various forms of anxiety may benefit from cognitive behavioural therapy, which will help them isolate their fears and anxiety and give them methods in which to cope with these anxieties. One thing commonly feared by people with Williams is their hypersensitivity to sounds and noises, this can be controlled using sensory integration therapy techniques. Adapting their environment to fit their needs is also a very important aspect, an individual with Williams syndrome`s environment should be free of distractions such as clutter or objects that may be stimulating to the individual.

Material used to instruct a child or adolescent with Williams syndrome in an academic setting can be adapted as well, such as eliminating words or items on the page that are not important and limiting the number of math problems, or sentences within a page. It is extremely important that the individual and the parents of a person with Williams syndrome are informed of their disorder. Education is an integral part of this individuals diagnosis as they may suffer from other health problems in the future.

People with Williams syndrome, as well as their parents need to be informed of important milestones that could affect the infant, child or adolescent, they also need to be aware that there are various support systems installed in various communities that help families that are living this disorder. Parents should always try to find these resources as they tend to provide relief and understanding for those involved. Many individuals should be involved in the care of a person with Williams syndrome such as special education professionals, occupational and physical therapists, speech and language pathologists and general health professionals.

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