Q: Which doctor should treat my child with Williams syndrome?
A: Williams syndrome requires a multidisciplinary approach. It is necessary to have one primary paediatrician or physician who will be familiar with child’s developmental and medical history. However, the child will need the services of endocrinologists, cardiologists and other specialists to take care of correlated medical issues. The child should also be rehabilitated with the support of speech and language therapists and special educators.
Q: Is there any confirmatory test for Williams syndrome?
A: In children with inherited Williams syndrome, a blood test called fluorescent in situ hybridization (FISH) confirms clinical diagnosis. This is a chromosome analysis test to check for deletion of an elastin gene. If the child has two copies of the elastin gene, he/she does not have Williams syndrome. However, if the child has only copy, the diagnosis of Williams syndrome is confirmed.
Q: Is there a cure for Williams syndrome?
A: At present there is no known cure for Williams syndrome. Complications that arise are usually dealt with on a case-to-case basis.
Q: If my first child has Williams syndrome, what is the risk in other pregnancies?
A: Since Williams syndrome has an inheritable factor, it is best to go for pre-natal counselling and testing when going in for another pregnancy. A gynecologist can direct you to a suitable genetic counsellor.
