What is Williams syndrome?
Williams syndrome (WS) is a genetic condition caused by the deletion of genetic material on chromosome 7. It affects I in every 10 000 people across all culture. Williams Syndrome is present at birth and affects both males and females equally. Although children with Williams Syndrome tend to be incredibly social and interact well with others, they present significant medical conditions.
William Syndrome is characterised by a number of features including:
- Characteristic Facial Feature (these become more apparent with age): a small upturned nose, long philtrum upper lip, wide mouth, full lips, small chin, and puffiness around the eyes. Children with blue and green eyes can have a white lacy pattern on their iris.
- Heart Complications: Most individuals with Charge syndrome will have some form of heart or blood vessel complication. This may include narrowing in the aorta or narrowing in the pulmonary arteries which may require surgical correction of the defect and periodic monitoring of cardiac functioning. Some children also have elevations in their blood calcium level that may require dietary or medical treatment.
- Low Birth weight/Slow weight gain: with adult stature being smaller than the average height
- Feeding Difficulties: usually due to low muscle tone including severe gag reflex, poor suck/swallow reflex and tactile defensiveness.
- Dental Abnormalities: Slightly small, widely spaced teeth, abnormalities of occlusion (bite), tooth shape or appearance.
- Kidney abnormalities and Hernias.
- Hyperacusis: Children with Williams syndrome often have hearing that is more sensitive and find certain frequencies or noise levels to be painful and/or startling.
- Musculoskeletal Problems: low muscle tone and joint laxity is very common.
- Learning Disability, Attention Deficit Disorder and Developmental Delay: Children with Williams Syndrome often are delayed in meeting their developmental milestones such as walking, talking and toilet training. Individuals tend to be overly social however may have some cognitive and language issues especially in the area of spatial relationships.
If you have questions about speech pathology for children with Williams Syndrome, contact your local doctor who will arrange for you to see a speech pathologist. Contact Us Today!
You can read more about Williams Syndrome: Williams Syndrome Association