Williams Syndrome

📖 Overview

Williams Syndrome is caused by a deletion of approximately 26-28 genes on chromosome 7, including the elastin gene. It occurs in approximately 1 in 7,500-10,000 births and is not usually inherited — it typically arises as a new mutation.

Williams Syndrome has a characteristic cognitive and personality profile. People with Williams Syndrome are typically very sociable, friendly, and verbally expressive. They often have a strong affinity for music, excellent auditory memory, and relative strength in verbal abilities compared to visual-spatial abilities. This profile is the inverse of many other genetic conditions associated with intellectual disability.

Intellectual disability is present in most people with Williams Syndrome, usually mild to moderate. Visual-spatial abilities are significantly more affected than verbal abilities. Maths, reading maps, and understanding spatial relationships are particularly difficult.

Anxiety is a significant and often underappreciated feature. The high sociability and friendly presentation can mask severe anxiety. Specific fears — particularly of loud noises — and generalised anxiety are very common and need active support.

Cardiovascular features are a hallmark — supravalvar aortic stenosis (narrowing above the aortic valve) occurs in around 75% of people with Williams Syndrome and requires lifelong cardiac monitoring. Hypercalcaemia in infancy, kidney abnormalities, and joint hypermobility are also associated.

Hypersociability means people with Williams Syndrome often approach strangers without appropriate caution. This is a significant safeguarding consideration — the person's social instincts do not include the danger-filtering that protects most people.