Williams Syndrome: A Unique Profile

Speech-language pathologists play an important role in the intervention and educational planning of individuals with Williams syndrome. It is the expertise of speech-language pathologists that is needed to remediate deficits related to areas of expressive and receptive language. Individuals with this syndrome have a unique profile across all levels of development. This article reviews the literature on Williams syndrome, presents some of the general characteristics, and also looks at some of the most important aspects of development related to cognition and language to aid in the assessment and individual of the individual with Williams syndrome.

What Is Williams Syndrome?

Williams syndrome (WS) is a rare genetic disorder first identified in 1961 by Williams and his colleagues (Williams, Barratt-Boyes, & Lowe) and, at the same time, described in Europe by Beuren, Apitz, and Harmjanz (1962). It is estimated to occur in approximately 1 out of 7,500 births (Stromme, Bjornstad, & Ramstad, 2002; Williams Syndrome Association [WSA], 2007). Boys and girls can be affected equally (Gilbert, 1996; Pore & Reed, 1999). WS can occur in all ethnic groups and has been identified throughout the world (WSA, 2007).

WS has been reported to manifest itself in multiple systems and not all individuals have been shown to exhibit the same characteristics (WSA, 2007). Virtually all individuals (~99 percent) have been reported to have a micro-deletion on the long arm of chromosome 7 (chromosomal subunit 7q11.23) in the area of the elastin (ELN) gene (Hillier et al., 2003; Korenberg et al., 2000; WSA, 2007). This can be confirmed by a fluorescent in situ hybridization (FISH) test (Ewart et al., 1993; Lowery et al., 1995). Since WS has become a medical diagnosis, children are being diagnosed at an earlier age. With that and the increase in knowledge of WS, individuals are often diagnosed in the early childhood years.

Physical Characteristics

Heart and blood vessel abnormalities, including heart murmur (Kataria, Goldstein, & Kushnick, 1984; Preus, 1984), congenital heart disease, hypertension, and/or supravascular aortic stenosis (Gilbert, 1996; Morris, Demsey, Leonard, Dilts, & Blackburn, 1988; Morris, Leonard, Dilts, & Demsey, 1990) have been seen in individuals with WS. The deletion of the elastin gene may contribute to these vascular abnormalities (Ewart et al., 1993). Elevated blood calcium levels and kidney stones (Gilbert, 1996) reportedly are common in children and may need lifetime monitoring (WSA, 2007).

Characteristic facial features have been reported in WS and include: round, chubby faces; an upturned nose; depressed nasal bridge; full lips; a long upper lip; and a wide mouth (Gilbert, 1996; Kataria et al., 1984; Morris, 2003; Morris et al., 1990; Preus, 1984; WSA, 2007). Facial features may become more prominent with age (WSA, 2007).