The Co-Occurrence of Autism and Williams Syndrome: A Case Study Report

Article excerpt

Abstract

This paper describes a longitudinal case study detailing the communication profile of one child with both Williams syndrome (WS) and autism. The participant was administered two standardized assessments of language and general cognitive abilities. His parents completed the Pre-Verbal Communication Schedule; and a sample of the child's spontaneous interaction was analyzed. The results show that this child presents with markedly delayed language and communication skills and that his communication profile is the opposite of the assumed 'typical' WS profile. The conclusion is that clinicians need to be aware of the co-occurrence of genetic disorders, such as WS and autism in order to facilitate accurate diagnosis and effective treatment.

Keywords: Williams syndrome, case study, language, communication, autism

Background

Williams syndrome (WS) is a rare genetic disorder which affects 1 in 25,000 to 50,000 live births and results from a microdeletion on chromosome 7 affecting one of the alleles of the elastin gene (Korenberg, Chen, Hirota et al., 2000). The early literature describing language and cognitive characteristics of individuals with WS claimed that these individuals have intact language abilities in the face of moderate to severe cognitive deficits (Bennett, La Veck and Sells, 1978; Arnold, Yule and Martin, 1985; Bellugi, Marks, Bihrlie, & Sabo, 1988). However, subsequent research has shown that the language abilities of individuals with WS are not intact and that they are in line with other cognitive abilities rather than being dissociated from them (Karmiloff-Smith, Grant, Berthoud, Davis, Howlin & Udwin, 1997; Grant, Valian and Karmiloff-Smith, 2002; Pagon, Bennet, La Veck, Stewart & Johnson, 1987; Stojanovik, Perkins & Howard 2004). Good social communication skills in individuals with WS have been reported (Jones, Bellugi, Lai, Chiles, Reilly, Lincoln & Adolphs, 2000). Indeed, Jones et al. (2000) argued that superior social-communication skills distinguish this population from other developmental disorders, such as Down syndrome and autism. Recently, however, Laws & Bishop (2004) and Stojanovik (2006) reported pragmatic language impairment and social deficits in children and young adults with WS, which suggests that social skills in WS may not be as 'good' as previously reported.

It has also been shown that infants and toddlers with WS pass through atypical trajectories in the development of language and cognition. Referential word production precedes referential pointing; and fast mapping of novel objects appears prior to exhaustive sorting, which is the opposite of what happens in typical development (Mervis & Bertrand, 1997). Paterson, Brown, Gsodl et al., (1999) also reported that infants and toddlers with WS go through an atypical learning trajectory with regard to language and numeracy. Moreover, Laing et al. (2002) reported that children with WS differ significantly from typical peers in their development of critical prelinguistic communication skills. For example, they demonstrate different patterns of initiating joint attention and requests, and they do not produce any declarative pointing even after they have acquired their first words.

Mervis et al. (2003) described two studies in which they found unusual looking pattern in infants and toddlers with WS. Study 1 included one infant with WS who was compared to a group of typically developing infants in a triadic interaction. The infant with WS spent significantly more time looking at the mother's face than did the typically developing infants. In study 2, several infants with WS were compared to typically developing children, also during triadic interactions, but this time involving a stranger instead of their mother. The infants with WS were found to spend approximately 70% of their time looking at the stranger's face. The second study was not video-recorded or coded, however the conclusion was that the infants with WS showed a stronger preference for looking at faces than objects. …