Chapter 5 - Williams Syndrome
Introduction
Williams syndrome (WS) is a neurodevelopmental disorder that was first identified in the 1960s (Williams, Barrat-Boyes, & Lowe, 1961). This genetic disorder is caused by the deletion of approximately 25 genes on chromosome 7 (7q11.23; Donnai & Karmiloff-Smith, 2000) and has a reported prevalence of 1 in 20,000, occurring sporadically within the general population (Morris, Demsey, Leonard, Dilts, & Blackburn, 1988). The genetic etiology of the disorder was unknown until the early 1990s when researchers discovered that individuals with WS invariably had a deletion of the elastin (ELN) gene on the long arm of chromosome 7 (Ewart et al., 1994). By using genetic (fluorescent in situ hybridization, FISH) testing, it is now known that about 97% of individuals with WS have one copy of the ELN gene missing (see Lowery et al., 1995). Before the availability of FISH testing, the disorder was identified as a condition involving a major heart defect (supravalvular aortic stenosis, SVAS; narrowing of the arteries that constricts blood flow), intellectual difficulty, and a distinct facial dysmorphology (see Bellugi, Klima, & Wang, 1996). For example, children with the disorder have been referred to as having an “elfin” face (e.g., Lenhoff, Perales, & Hickok, 2001); the characteristics of which may include a broad forehead, prominent eyes, flat nasal bridge, full cheeks, and a wide mouth (Morris & Mervis, 1999, and also see Hammond et al., 2005). Medically, the most serious health problems are often related to the presence of the previously mentioned SVAS that may require surgery. Critically, however, WS is a multisystem disorder; for example, the severe cardiac abnormalities already mentioned occur alongside musculoskeletal problems (e.g., hyperextensive joints, small stature, delayed growth), gastrointestinal illnesses (e.g., hypercalcaemia, feeding problems in infancy), severe problems with sleep, problems with vision (e.g., strabismus, hyperopia), and issues with auditory stimuli processing (e.g., hyperacusis; Levitin, Cole, Lincoln, & Bellugi, 2005). For this range of problems, individuals with the disorder should be monitored regularly (see Morris & Mervis, 1999).
It was not until the middle to the end of the 1980s that researchers made considerable advances in understanding some of the neuropsychological features associated with WS. Since this time, there has been great progress in unearthing some of the major components of the WS cognitive and behavioral phenotypes and possible underlying neural mechanisms. In fact, WS leads the way in receiving attention and scrutiny from cognitive scientists and neuropsychologists (for a comprehensive review see Martens, Wilson, & Reutens, 2008). Those who have been interested in WS have used the disorder as a model for both typical and atypical behavior and development.1 In this chapter, we explore the current state of knowledge regarding the cognitive, social, and behavioral profiles that are associated with WS and research based interventions and clinical approaches with this group. We take in turn several phenotypes (e.g., cognitive, social, behavioral) that have been linked to the disorder, first describing the range of features associated with that phenotype and then considering intervention implications related to each of these areas at the end of the chapter.
Section snippets
IQ
Intellectually, individuals with WS tend to function at the level of a mild to moderate disability with Full Scale IQ (FSIQ) reported to be within the range of 50–60. However, individual variability will mean that FSIQ ranges between 20 (severe to profound intellectual disability) to 100 (average intellect) (see Bellugi et al., 1999, Porter & Dodd, in press, Searcy et al., 2004), although such extremes are relatively rare. Having systematically reviewed studies exploring IQ in WS, Martens and
Social Behaviors
In this section, we focus on behaviors linked to the WS social phenotype. Much work over the last decade has focused on social behaviors associated with WS, having spent much of the preceding decade focused on the cognitive profile detailed previously. Many individuals with WS show an intriguing profile of social attributes. They tend (both as children and adults) to be exceptionally friendly, outrageously outgoing, and highly sensitive to the feelings of people they interact with. Yet it
Psychopathology
The social tendencies (as well as the cognitive capabilities) outlined above may mask a complex range of behaviors and personality attributes that accompany a diagnosis of WS. The difficulty forming and maintaining friendships may, in part, be the consequence of the range of social atypicalities reported above (e.g., a tendency to over attend to faces, increased approach toward strangers) but may also be the result of a low tolerance for frustration, excessive chatter, and impulsive behavior
Interventions
Interventions targeting each of the key areas of cognition and behaviors discussed throughout this chapter will now be considered.
Conclusions and Future Directions
We have made several key points throughout this chapter that warrant consideration in terms of the current state of knowledge and future research directions. We note that when the cognitive profile of WS is described we can be justified in describing the peaks and valleys of performance and abilities but this must be done alongside the backdrop of a general mild–moderate level of intellectual disability; rather than claims of spared and impaired performance. Additionally, we must consider how
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Adaptive functioning in Williams syndrome and its relation to demographic variables and family environment
2014, Research in Developmental DisabilitiesCitation Excerpt :Therefore, the more marked plateauing of Communication skills with increasing chronological age, relative to other adaptive skills may be due to the cognitive phenotype observed in WS. Despite the well-known personality characteristics of WS individuals as friendly, hypersocial, affectionate and empathetic (Riby & Porter, 2010) the Socialisation skills for adults with WS were found to be lower than those of younger individuals. The difference is likely due to the increased social demands typically expected with increased age.
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