Williams syndrome Explained

What is Williams Syndrome

Williams syndrome is a rare genetic disorder caused by the deletion of the long arm of chromosome 7. A random genetic mutation (deletion of a small piece of chromosome 7), rather than inheritance, most often causes the disorder and is present at birth. This region includes the elastin gene and affects approximately 1 in 10,000 births. It affects males and females equally. Williams syndrome is characterized by a wide range of medical problems with the most significant being cardiovascular disease. Medical problems can include hypercalcemia, which is many times present at birth, narrowed arteries causing high blood pressure, kidney problems, chronic ear infections, gastrointestinal issues, thickened organs, optical issues, hernias, rectal prolapse, and urinary tract issues.

Individuals with Williams syndrome also have a developmental delays ranging from mild to severe. Delays are typically global and most children are quite delayed in meeting milestones such as crawling, walking, talking and many children have significant feeding difficulties. Williams syndrome is also associated with a characteristic cognitive profile of mental strengths and weaknesses composed of strengths in verbal short-term memory and language, combined with severe weakness in visuospatial construction. Mild to severe anxiety and Attention Deficit Disorder are also common features of Williams syndrome. No two individuals with Williams syndrome are alike and the degree of severity in characteristics are variable from person to person. It is important to also remember that not all medical problems are present at birth and many occur over time and some may not be realized until adulthood.

Diagnosing Williams Syndrome

Williams syndrome can be confirmed by a blood test, fluorescent in situ hybridization (FISH) or targeted mutation analysis.

Most Common Characteristics

Cardiac Issues: supravalvular aortic stenosis, renal artery stenosis, aortic stenosis and pulmonary stenosis

Hypertension

Gastric reflux

Gastroparesis

Hypercalcemia

Chronic ear infections

Hernias

Low muscle tone

Hyperacusis (sensitive hearing)

Strabismus

Poor growth

Hoarse voice

Early puberty

Delay in meeting developmental milestones

Delays in speech, language and communication

Delays in fine and gross motor skills

Phobias

Excessive worrying

Mild to severe anxiety

Individuals with Williams syndrome also have a characteristic facial appearance. The characteristic facial features include puffiness around the eyes, a short nose with a broad nasal tip, wide mouth, full cheeks, full lips, and a small chin. Individuals with Williams syndrome are also likely to have a long neck, sloping shoulders, short stature, limited mobility in their joints, and curvature of the spine. Some individuals also have a star-like pattern in the iris of their eyes.

Course of Treatment

Williams syndrome cannot be cured and there is no standard course of treatment. Each medical and developmental issue should be addressed by a specialist. Physical, occupational and speech/language therapy is typically recommended. Cardiovascular monitoring should occur on an ongoing basis as well as an annual evaluation and monitoring of all body systems.

Anxiety and Williams Syndrome

Many individuals with Williams syndrome have anxiety that may begin in childhood and last through adulthood. Some have anticipatory anxiety, or fear of what "may" happen. They can fixate on topics or situations that cause them anxiety and worry about people or situations that may occur.

The use of Social Stories can be used to discuss future occurrences and "tell a story" about what is going to happen. These can be personalized to include pictures of the child, pictures of places or sources of anxiety. This will allow the child to talk about his or her fears and the source of their anxiety and provide a sense of familiarity with the situation, event or place. Ask your child to "read" the story to you and it may provide a calming effect for them.

Allow him or her to see the source of anxiety. If your child becomes anxious about the fire alarm at school, allow him or her to go "see" the fire alarm and ask the school to allow him or her to watch as the fire alarm is pulled. This allows for the child to become more familiar with the source of anxiety and can have a calming, comforting effect. If you child fears vacuum cleaners or lawn mowers, as is common with many children with Williams syndrome; you can set up a situation where the child can see the vacuum or the lawn mower, then progressively work slowly towards the steps of completely having the child interact with the source of anxiety.

It is sometimes best not to talk too much into the future with your child. The anticipatory anxiety can be overwhelming for them. Individuals with Williams syndrome tend to fixate on favorite or positive upcoming events and this can lead to unnecessary anxiety. This can also cause difficulty if plans need to change and the upcoming event does not occur as originally planned.

As with any child, you will learn what works best for him or her.

Sensory Processing Issues and Anxiety - Penny Perez

1) Know Your Child
Few children with Williams syndrome are intentionally "bad." Some may have difficult and unexpected behaviors. Each child is different, and knowing your own child is key to taking action. Is your child extra-sensitive to sound and other sensory input? Does he or she need lots of sensory input, or perhaps limited sensory input? What causes anxiety one day, may have absolutely no effect on your child the next day. The more you know, the easier it is to find answers or adapt to a situation.

2) Modify Your Expectations
Your typical child may have been able to sit still through a full dinner hour. But that's not a reasonable expectation for some children with Williams syndrome. Consider starting with a smaller goal -- sitting still for ten minutes, eating with a fork, or whatever you think he or she can handle -- and building toward the larger goal of sitting through a full meal.

3) Modify the Environment
Safety is key. And for children with Williams syndrome, creating a safe environment can be a challenge. Since so many of your child's behaviors may have the potential to be dangerous, it's important to take precautions such as bolting shelves to the walls and floor, putting a dead bolt on the front door, and latching cabinets securely. Children may be fascinated with the lawn mowers outside and attempt to leave the house to discover them. Know the safety concerns and take appropriate precautions.

4) Consider the Possible Sources of the Behavior
Many children with Williams syndrome either crave or over-respond to sensory input. Some alternate between the two extremes. Very often, "bad" behavior is actually a reaction to too much or too little sensory input. By carefully observing your child, you may be able to figure out what's setting him off. It may be a certain sound frequency, interruption of a routine or an inability to explore their source of fixation.

5) Remove Overwhelming Sensory Input
If your child is over-reacting to sensory input, there are many ways to change the situation. Of course, the first option is to simply avoid overwhelming sensory settings such as parades, amusement parks and the like. When that's not an option, consider ear plugs, noise reduction earphones, distracting sensory toys, or plain old bribery to get through difficult moments.

6) Provide Sensory Input
If your child is crashing into couches, climbing the walls or spinning in circles, chances are he or she is craving sensory input. You can provide that in any number of more appropriate ways. Some people recommend bear hugs; rolling them up like in blankets, or providing them with weighted vests or weighted blankets.

7) Look for Positive Outlets for Unusual Behaviors
While climbing the entertainment center may be "bad" behavior, climbing at a rock gym can be a great way to build muscles and friendships at the same time. While spinning at the grocery store may be odd, it's ok to twirl on a tire swing. What's a problem in one place may be a virtue in another!

8) Enjoy Your Child's Successes
We were the only parents on the block to cheer at our son's first intentional fib. We're thrilled when he says "yes" to a play date, completes a full sentence, or kicks a ball back and forth a few times. He may not have typical successes -- but he is successfully becoming himself.

9) Worry Less About Others' Opinions
Your child may have unusual behaviors in public places. You will, no doubt, at some point, find others staring and making comments. Focus on what your child is experiencing and what he or she may need from you and try not to give in to the ignorance of strangers.

10) Find Ways to Have Fun Together
Find things that interest him or her and schedule a play date together for him or her to enjoy their "fixations" or sensory needs. My son loves trains. We now make time to go to a local train store and let him simply explore the store and the trains in the garden and I now have a new found appreciation of trains.

Considerations for Adults with Williams Syndrome

As individuals enter into adulthood, many additional issues may arise. Some of the more common issues are diabetes or pre-diabetes and mild to moderate sensorineural hearing loss (a form of deafness due to disturbed function of the auditory nerve). For some people, hearing loss may begin as early as late childhood.

Problems with diverticulitis and hypothyroidism are often seen in adults and they also have a higher tendency to be overweight. Many individuals appear to be older than they are and premature greying of hair is common. Cognitive aging also tends to be present. Malocclusion of teeth is most often present along with chronic build up of wax in the ears.

It is important that in addition to monitoring existing conditions from childhood, as an individual enters into adulthood, physicians also review all systems to look for subsequent medical issues that commonly occur.

A higher incidence of depression also occurs as individuals enter adulthood along with anxiety and phobias and obsessions.

There is currently no documentation of typical life expectancy of individuals with Williams syndrome. All medical issues should be closely monitored throughout the life cycle.

Williams Syndrome Changing Lives Foundation

PO Box 76021 Saint Petersburg, FL 33734 US

Website: www.wschanginglives.org

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What is Williams Syndrome