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Understanding Williams syndrome

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Williams syndrome (WS) is a genetic disorder which is present at birth. It occurs in approximately one in 10,000 births. It is not passed down through families and so can happen at time, although a person who has Williams is 50% more likely to pass it to his or her child. It is caused by the deletion of genes 26-28 on the seventh chromosome at the time of conception. The severity of Williams’ symptoms is determined by the size of the deletion. The disorder can be definitively diagnosed through a blood test.

Williams syndrome is characterized by a cluster of symptoms, although not every person exhibits every symptom. People with this disorder have distinct facial features such as an upturned nose, puffiness around the eyes, an elongated upper lip, a thin face, and a small chin.

Cardiac and blood vessel problems are also common among these individuals. Arteries tend to be narrow, which can lead to various medical problems later in life. Another difficulty can be the presence of excess calcium in the blood which can lead to prolonged colic in babies with Williams. In addition, children are prone to low muscle tone and loose joints. Physical therapy can help with stiffness and range of motion in the joints and improve muscle strength.

People with Williams are typically very friendly and outgoing. They have very pleasant dispositions and tend to be especially verbal. Reading social cues from others may be especially difficult, making lasting relationships a challenge. These individuals have mild to severe developmental and cognitive delays. Many of the milestones, such as walking, talking, and toilet training, are often reached later than average. While people with Williams have strong verbal and social skills, they usually struggle with spatial relations, fine motor skills, and attention span.

While there is no cure for Williams syndrome there are treatments for some of the symptoms. Cardiovascular conditions must be monitored carefully. Physical therapy can address some of the musculoskeletal problems associated with the disorder.

Support services are available through the state of Connecticut Department of Developmental Services(DDS). Vocational and residential services help these capable individuals to live and work independently and become contributing members of society. DDS also provides many social activities for adults with intellectual disabilities. This is particularly important for those with Williams since they are especially friendly people who love to interact with others. DDS also offers respite serviceswhich provide social opportunities, as well as a much needed break for caregivers.

According to the Williams Syndrome Association’s website,

“Unlike disorders that can make connecting with your child difficult, children with WS tend to be social, friendly and endearing. Parents often say the joy and perspective a child with WS brings into their lives had been unimaginable.”

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