Today’s guest post on Williams Syndrome comes from Pamela Mandell, M.S. CCC-SLP with a contribution from Priya Deonarain, MA, OTR/L, CKTP.
Williams syndrome (WS), also known as Williams-Beuren Syndrome, is a rare genetic disorder caused by the deletion of the long arm of chromosome 7 or, more specifically a microdeletion at 7q11.23, which involves the elastin gene. WS occurs in approximately 1 in 10,000 births worldwide. It is characterized by cardiovascular disease, dysmorphic craniofacial features, a characteristic cognitive and personality profile, deficient visuospatial abilities, hyperacusis, growth retardation, developmental delays, feeding difficulties, and learning disabilities. However, many people with WS exhibit strong expressive language skills and an affinity for music. Mild to severe anxieties as well as Attention Deficit Hyperactivity Disorder (ADHD) are also associated with WS. The degree of severity or involvement of these characteristics is variable and no two individuals with WS are alike. WS affects both males and females equally. Sadler, et al. (2001), determined the severity of both supravalvular aortic stenosis (SVAS) and total cardiovascular disease was significantly higher in males than females. There is no cure for WS. Patients must be continually monitored and treated for symptoms throughout their lives. Continue reading Spotlight on Syndromes: An SLPs and OTs Perspective on Williams Syndrome