Sunday, April 12, 2015

Population Spotlight: Williams Syndrome

To continue with my blog post series regarding my experience with Camp Blue Skies, I decided to do a more specific population spotlight on Williams Syndrome. The founder of Camp Blue Skies, Dick Sesler, has a son (Brent) with Williams Syndrome. 

While at camp this week, there were several college volunteers who had never heard of the syndrome. I wanted to take the time to provide some more information regarding it!  

One of my favorite quotes I heard at camp was from a camper with Williams Syndrome. The camper said, "Hi! I'm Susie*. I have Williams Syndrome, and that means I am always happy." 
Name changed for privacy purposes. 


 The following is a fact sheet I completed for a class in undergraduate college.

Williams Syndrome Fact Sheet

Description:
Williams syndrome is a rare genetic disorder that affects a child's growth, physical appearance, and cognitive development, that is present at birth.

Etiology and age of onset:

Williams syndrome is caused by a break in the DNA molecule that makes up a chromosome. The chromosome break occurs while the sperm or egg cell is developing. When this gamete is fertilized, the child will develop Williams syndrome. A child can inherit a broken chromosome from a parent who also had the disorder.

Characteristics:
            Physical:
    • distinctive, "elfin" facial appearance, along with a low nasal bridge,and cardiovascular problems, heart murmurs and the narrowing of the blood vessels
    • higher risk of developing diabetes. severe or prolonged gastrointestinal problems
    • Urinary difficulties as well as dental irregularities.
Developmental:
    • delay of language abilities and delayed motor skill development; child's first word often occurring as late as three years of age.
    • Language abilities are often observed to be deficient until adolescence
    • delay in development of motor skills; develop the ability to lift their heads and sit without support months later than typically developing children. These delays continue into childhood, where patients with Williams syndrome are delayed in learning to walk.
    • typically achieve a below-average height and weight, compared with non-affected populations.
    • with age, frequently develop joint limitations and hypertonia or abnormally increased muscle tone.
Social:
    • An unusually cheerful demeanor and ease with strangers;High anxiety levels and can develop phobias more easily than others.

Treatment Interventions:
There is no cure for Williams syndrome. Individuals with Williams syndrome need regular monitoring for potential medical problems by a physician familiar with the disorder. Specialized services and therapies are also recommended to help individuals with Williams Syndrome maximize their potential.




Resources Available:
Williams Syndrome Association: You can become a member, read about research, network, or blog at www.williams-syndrome.org


Characteristics:
  • Characteristic facial appearance: small upturned nose, long philtrum (upper lip length), wide mouth, full lips, small chin, and puffiness around the eyes.
  • Heart and blood vessel problems:narrowing in the aorta (producing supravalvular aortic stenos is SVAS), or narrowing in the pulmonary arteries.
  • Hypercalcemia (elevated blood calcium levels):Low birth-weight / slow weight gain
  • Feeding problems:These problems have been linked to low muscle tone, severe gag reflex, poor suck/swallow, tactile defensiveness etc.
  • Kidney abnormalities
  • Irritability (colic during infancy)
  • Dental abnormalities:Slightly small, widely spaced teeth are common in children with Williams syndrome
  • Hernias: Inguinal (groin) and umbilical hernias are more common in Williams syndrome than in the general population
  • Hyperacusis (sensitive hearing)
  • Musculoskeletal problems:Young children with Williams syndrome often have low muscle tone and joint laxity
  • Overly friendly (excessively social) personality:They have a unique strength in their expressive language skills, and are extremely polite. They are typically unafraid of strangers and show a greater interest in contact with adults than with their peers.
  • Developmental delay, learning disabilities and attention deficit disorder: Older children and adults with Williams syndrome often demonstrate intellectual "strengths and weaknesses." There are some intellectual areas (such as speech, long term memory, and social skills) in which performance is quite strong, while other intellectual areas (such as fine motor and spatial relations) show significant weakness.


Q. What is the cause of Williams syndrome?
A. Williams syndrome is not caused by anything the parents did or did not do either before or during pregnancy. Williams syndrome is caused by the spontaneous deletion of 26-28 genes on chromosome #7.  The deletion occurs at the time of conception.  It is likely that the elastin gene deletion accounts for many of the physical features of Williams syndrome. Some medical and developmental problems are probably caused by deletions of additional genetic material near the elastin gene on chromosome #7. The extent of these deletions may vary among individuals.  In most families the child with Williams syndrome is the only one to have the condition in his or her entire extended family. However, the individual with Williams syndrome has a 50% chance of passing the disorder on to each of his or her children.


Q. What is the difference between Williams syndrome (WS) and Williams-Beuren syndrome (WBS)?

A.  The terms "Williams syndrome" and "Williams-Beuren syndrome" refer to the same syndrome. Drs. Williams and Beuren published papers within months of each other in New Zealand and Germany.  Each described several patients with the same cardiovascular problem and a similar facial appearance.  Williams syndrome is commonly used in the United States, while Williams-Beuren syndrome is widely used in Europe.

Have you ever met anyone with Williams Syndrome? 
What did you learn? What other populations would you like us to spotlight? 

-Caroline

0 comments: