William's Syndrome

About Williams Syndrome

Williams Syndrome is a neurogenetic disorder caused by an abnormality on chromosome 7. Though Williams Syndrome is inheritable, in most affected individuals it is caused by spontaneous mutation.

The syndrome is characterised by facial features including a broad forehead, flat nasal bridge, full cheeks and wide mouth. Their teeth are often small, crooked and spaced apart. They may also have loose joints and skin, as well as low muscle tone. Cardiovascular problems, such as aortic stenosis, are also common in those with Williams Syndrome. Hypercalcaemia, which is elevated calcium levels in the blood, may cause colic in infants.

The syndrome is typically first detected through observation of the distinctive physical features, and is then confirmed through genetic testing. Although there is no cure, early diagnosis and intervention allows children with Williams Syndrome to manage their symptoms. For example, orthodontic treatment can help in managing their dental problems, and physiotherapy may help with improving their muscle tone. Regular medical check-ups also ensure that any cardiovascular problems are detected as soon as possible.

 

Cognitive issues associated with Williams Syndrome

Williams Syndrome is characterised by speech and developmental delays from a young age, and most can be classified as having mild to moderate mental retardation. As they get older, however, individuals with William Syndrome start developing relatively proficient spoken language abilities and are able to incorporate complex grammar structures into their sentences. Their cognitive profile is hence quite different from other individuals with developmental disorders, whose delays usually do not improve with age.

They also have little or no problems in socialising with others. However, their personalities can sometimes be described as ‘too outgoing’, as they can be overly affectionate even in inappropriate social contexts. They have relatively good verbal IQ and working memory, and are able to learn through repetitions and memorisation.

On the other hand, visual-spatial impairments are common. When asked to draw a picture of a house, a teenager with Williams Syndrome may be able to illustrate the parts making up a house, and explain the parts as they draw, but unable to organise those parts in the shape of a typical house. Attentional Deficit Hyperactivity Disorder (ADHD) is also more prevalent in children with Williams Syndrome, and they are more likely to develop anxiety-related challenges such as social phobia.