Williams syndrome is a rare genetic disorder that manifests itself in heart problems, learning difficulties, and particular physical and behavioural characteristics.
Williams syndrome is a chromosomal genetic disorder that causes cardiovascular malformations, learning difficulties, delayed growth and psychomotor development, physical characteristics in appearance such as changes in facial features as well as behavioural characteristics such as hypersociability. These different symptoms have consequences for communication, social life and independence of the person affected.
People with Williams syndrome often have very sensitive hearing. Many also tend to be very talented at music. Those who has Williams syndrome also often have excellent auditory and visual memory as well as ease of speech. They also tend to have outgoing and engaging personality characteristics and tend to take a strong interest in other individuals. Attention deficit disorder, anxiety disorder and phobias have been associated with Williams syndrome. Also known as Williams-Beuren syndrome, this condition affects about one in 10,000 births and affects boys and girls equally.
The symptoms of Williams syndrome vary from person to person, both in intensity and in number. These are the main signs of the condition:
- Cardiac pathologies (strictures, breaths)
- A delay in the psychomotor development (sitting position, walking, fine motor skills)
- Learning difficulties and concentration problems
- Hypercalcemia in children (increased calcium in blood and urine)
- Childhood sleep disorder
- Hypersensitivity to sound
- Difficulties with visuospatial construction (such as drawing and completing puzzles)
- Hypersociability and high levels of empathy
- Common physical traits (small face, fleshy lips, small broadly tipped nose)
Williams syndrome is a chromosomal genetic condition linked to the loss of a small piece of chromosome 7. The loss of this small fragment, called microdeletion, represents about 25 genes. The severity of the syndrome depends on the size of this deletion. We do not know the cause of this genetic anomaly. In the majority of cases, the child with Williams syndrome is the only one in the family and neither parent has transmitted the genetic abnormality. A person with Williams syndrome, however, has a one in two chance of to passing the condition on to their children.
DIAGNOSIS AND TREATMENT
Diagnosis of Williams syndrome can be complicated due to variability in the symptoms and the effects of the disease. However, the occuring group of symptoms can usually be rounded together to determine the diagnosis. In order to reach a more accurate diagnosis, a doctor will take a sample of the patient's blood which can establish whether the elastin gene contained in chromosome 7 is missing along with any other genes.
There is no such thing as a 'cure' for Williams disease. However, early intervention by educational and medical teams - including pediatrician, speech therapist, physiotherapist, orthodontist and psychologist - can help people with Williams syndrome in their development as they grow up and support them in leading independent lives as adults.