Williams syndrome occurs when there is a deletion of genes 25 to 27 on chromosome 7, affecting approximately 1 in every 20,000 newborns. Patients exhibit distinctive facial features, mild to moderate intellectual disability, but also possess significant musical abilities. This ability often manifests as hyperacusis, an extreme sensitivity to sound that can be bothersome and painful.
Patients with Williams syndrome show a relative enlargement of the left temporal plane, which is also characteristic of musicians with absolute pitch.
In many cases, the cause of Williams syndrome is genetic. Specifically, it involves a microdeletion and microduplication of a small fragment of a chromosome (approximately 1 to 3 Mb): 7q11.23 (Mulle et al: Reciprocal duplication of the Williams-Beuren syndrome deletion on chromosome 7q11.23 is associated with schizophrenia. Biol Psychiatry 2014, 75(5):371-377). The chromosome is flanked by short repeated sequences known as LCRs (Low Copy Repeats) that have a sequence identity of >97%.
Today, music is recommended as therapeutic treatment for patients with Williams syndrome.
