WILLIAMS SYNDROME

What is it?

Williams syndrome is a non-hereditary syndrome which strikes at random and can cause brain-damage in varying degrees, combined with some physical side-effects. These include lack of co-ordination, slight muscle weakness, possible heart defects, and occasional kidney damage. Hypercalcaemia, a high calcium level, is often discovered in infancy, and normal development is generally delayed.

Who gets it?

The incidence of cases is approximately 1 in 20,000.

What tests will the Doctor want to do?

Diagnosis is not easy because side-effects vary considerably, but various clues can be combined to produce a near-certainty. The probable cause of Williams Syndrome is a micro-deletion of the Elastin Gene on Chromosome 7, and a blood-test (called the FISH technique) can establish if the Elastin Gene is in fact missing.

What are the symptoms?

Facial features provide a clue. All the children have a facial similarity, referred to as "elfin" features, which include:

• a wide mouth, with large, slack bottom lip
• very retrousse nose with flattened bridge
• slightly "bulgy" cheeks
• irregular teeth widely spaced
• sometimes a squint

The child experiences many early problems, including:

• low birth-weight
• slow weight gain
• sometimes weight loss
• below average growth
• very slow feeding
• restless sleeping
• irritability
• sometimes a hernia
• excessive vomiting leading to dehydration and constipation
• sometimes a raised calcium level

Additionally, all WS children appear to have a slight narrowing of the aorta above the valve, in many cases insignificant, but occasionally leading to more serious heart defects.

Hyperactivity is often displayed in early years, exhibited as extreme uninhibited behaviour, excessive talking (in an inappropriate and "adult" manner), over-friendliness with strangers, and a compulsion to talk to adults, while being unable to make friends with peers.

Later on, the child exhibits a high verbal ability leading to artificial expectations of matching mental ability. He or she may have an obsessional interest in certain things (e.g. cars, trains, vacuum cleaners, wheels, etc.). Fear of heights, open stairs, and uneven surfaces is a common symptom. A very short concentration span and high distractibility adds to learning difficulties. An emotional immaturity is exhibited by over-reaction to events, and exaggerated displays of fear, excitement, sadness, and happiness.

The most common clue is hypersensitivity to noise. About 90% of affected children show great distress on hearing sudden loud noises, such as guns firing, balloons bursting, Christmas crackers, fireworks etc.

What is the treatment?

There is no "cure" for Williams Syndrome. When hypercalcaemia is present, a low-calcium diet can stabilise the situation, but any damage done by birth cannot be reversed. However, early diagnosis means better understanding of the problems which may arise, leading to a happier life for the child, and relief and support for the parents. Continuing further education can help to realise full potential.