Neuropsychological, neurological, and neuroanatomical profile of Williams syndrome

Bellugi, Ursula; Bihrle, Amy M.; Jernigan, Terry L.; Trauner, Doris A.; Doherty, Sally

doi:10.1002/ajmg.1320370621

Cited by 200 publications

(177 citation statements)

References 28 publications

Supporting

Mentioning

143

Contrasting

Unclassified

Order By: Relevance

“…The cardiovascular manifestations comprise SVAS and peripheral artery stenosis, which occur in 75 % of affected children [8]. Developmental delay is distinct in tasks requiring complex visual analysis for receiving information, whereas WBS patients perform better on tasks with auditory input and verbal output [9]. The typical behavioural features such as poor social relationships, overfriendliness, high sociability and empathy persist usually from childhood to adulthood [10 -12].…”

Section: Introductionmentioning

confidence: 99%

The genomic basis of the Williams – Beuren syndrome

Schubert

2008

Cell. Mol. Life Sci.

214

161

View full text Add to dashboard Cite

. The Williams-Beuren syndrome is a genomic disorder (prevalence: 1/7,500 to 1/20,000), caused by a hemizygous contiguous gene deletion on chromosome 7q11.23. Typical symptoms comprise supravalvular aortic stenosis, mental retardation, overfriendliness and visuospatial impairment. The common deletion sizes range of 1.5–1.8 mega base pairs (Mb), encompassing app. 28 genes. For a few genes, a genotype-phenotype correlation has been established. The best-explored gene within this region is the elastin gene; its haploinsufficiency causes arterial stenosis. The region of the Williams-Beuren syndrome consists of a single copy gene region (~1.2 Mb) flanked by repetitive sequences – Low Copy Repeats (LCR). The deletions arise as a consequence of misalignment of these repetitive sequences during meiosis and a following unequal crossing over due to high similarity of LCRs. This review presents an overview of the Williams-Beuren syndrome region considering the genomic assembly, chromosomal rearrangements and their mechanisms (i.e. deletions, duplications, inversions) and evolutionary and historical aspects.

show abstract

Section: Introductionmentioning

confidence: 99%

The genomic basis of the Williams – Beuren syndrome

Schubert

2008

Cell. Mol. Life Sci.

214

161

View full text Add to dashboard Cite

show abstract

“…Williams syndrome is typically characterised by an uneven cognitive profile: despite low IQs (predominantly in the 50-65 range), language and face-processing capacities have been shown to be relative strengths while more serious deficits are found in visuo-spatial cognition, number, problemsolving and planning (Arnold et al, 1985;Udwin and Dennis, 1995;Bellugi et al, 1990). The surprising linguistic fluency of individuals with WS led initially to claims that language in WS is 'selectively preserved' (Bellugi et al, 1988).…”

Section: Introductionmentioning

confidence: 99%

Love Is… AN ABSTRACT WORD: THE INFLUENCE OF LEXICAL SEMANTICS ON VERBAL SHORT-TERM MEMORY IN WILLIAMS SYNDROME

Laing

Grant²,

Thomas³

et al. 2005

Cortex

View full text Add to dashboard Cite

Contact : lib-eprints@bbk.ac.uk Laing, E.; Grant, J.; Thomas, M.; Parmigiani, C.; Ewing, S.; KarmiloffSmith, A. (2005) Love is . . . an abstract word: the influence of phonological and semantic factors on verbal short-term memory in Williams syndrome -Cortex, 41(2), pp. 169-179 INTRODUCTIONWilliams syndrome (WS) is a rare genetic disorder resulting from a micro deletion on one copy of chromosome 7q11.23 (Ewart et al., 1993;Frangiskakis et al., 1996;Tassabehji et al., 1996; for up-to-date review, see Donnai and KarmiloffSmith, 2002). It is characterised by specific physical anomalies including facial dysmorphology, and renal and cardiovascular anomalies. Abnormalities are also found in brain volume (Jernigan et al., 1993), brain structure (Galaburda et al., 1994) and brain biochemistry (Rae et al., 1998).Williams syndrome is typically characterised by an uneven cognitive profile: despite low IQs (predominantly in the 50-65 range), language and face-processing capacities have been shown to be relative strengths while more serious deficits are found in visuo-spatial cognition, number, problemsolving and planning (Arnold et al., 1985;Udwin and Dennis, 1995;Bellugi et al., 1990). The surprising linguistic fluency of individuals with WS led initially to claims that language in WS is 'selectively preserved' (Bellugi et al., 1988). However, more recent studies have suggested that the WS language system is not only delayed but follows an atypical developmental pathway that impacts on all facets of language Singer-Harris et al., 1997;Thomas and Karmiloff-Smith, 2003).The present paper focuses on one particular aspect of the WS cognitive profile, verbal shortterm memory. Verbal short-term memory has been considered a relative strength in WS and has been shown to be at the level of mental age (Udwin and Yule, 1990) or even higher than mental age (Mervis et al., 1999). In contrast, spatial short-term memory is severely impaired. Wang and Bellugi (1994) compared short-term memory in individuals with Williams syndrome and DS and found that while the WS group performed better than the DS group on a verbal short-term memory task, the Down syndrome group outperformed the WS group on a test of visual-spatial memory. Jarrold et al. (1999) extended these findings by demonstrating that this pattern holds even when differences in verbal and non-verbal skills are taken into account. Vicari et al. (1996a) further examined the dissociation between verbal and visuo-spatial memory by considering both short-and long-term memory processing. As in previous studies, they found that when compared to typically developing controls, individuals with Williams syndrome had comparable verbal memory spans and significantly lower spatial memory. However, this pattern was not replicated in long-term memory, where verbal and spatial memory were both impaired. On the basis of these findings, Vicari et al. (1996a) argue for a further dissociation in WS memory, between normally developing verbal short-term memory and deficient long-term memory.Other ...

show abstract

“…One intriguing aspect of language in WS is the unusual words that are reportedly used by people with the disorder (Bellugi et al, 1990;Bellugi, Wang & Jernigan, 1994;Udwin & Dennis, 1995). Thomas and colleagues (Thomas et al, 2006) have suggested that use of low frequency words is a linguistic social engagement device, since people with WS have been described as having a "hypersocial" personality profile (Gosch & Pankau, 1997;Howlin et al, 1998;Jones, Bellugi, Lai, Chiles, Reilly, Lincoln & Adolphs, 2000) and have been reported to make frequent use of pragmatic conversational devices to engage speakers' attention (Reilly, Losh, Bellugi & Wulfeck, 2004).…”

mentioning

confidence: 99%

The development of metaphorical language comprehension in typical development and in Williams syndrome

Thomas

Duuren

Purser

et al. 2010

Journal of Experimental Child Psychology

View full text Add to dashboard Cite

The domain of figurative language comprehension was used to probe the developmental relation between language and cognition in typically developing individuals and individuals with Williams syndrome. Extending the work of Vosniadou and Ortony (1983), the emergence of non-literal similarity and category knowledge was investigated in 117 typically developing children aged between 4 and 12, 19 typically developing adults, 15 children with Williams syndrome between 5 and 12 years of age, and 8 adults with Williams syndrome. Participants were required to complete similarity and categorization statements by selecting one of two words (e.g., either "The sun is like...?" or "The sun is the same kind of thing as...?") with word pairs formed from items that were literally, perceptually, or functionally similar to the target word, or else anomalous (e.g., 'moon', 'orange', 'oven', or 'chair', respectively). Results indicated that individuals with Williams syndrome may access different, less abstract knowledge in figurative language comparisons, despite the relatively strong verbal abilities found in this disorder. 3Although metaphor and analogy have traditionally been viewed as a relatively rare linguistic ornament that complement literal language, recent research suggests that metaphorical language is, in fact, commonplace in everyday communication (e.g., Graesser, Long & Mio, 1989;Pollio, Barlow, Fine & Pollio, 1977). For example, various strands of linguistic evidence suggest that metaphor is important for communicating, and perhaps reasoning, about abstract concepts (e.g. Gibbs, 1994;Lakoff & Johnson, 1980). Understanding metaphorical language necessitates certain degrees of proficiency in both cognition and language, and relies on several component abilities, such as processing capacity, metalinguistic skill, an understanding of communicative pragmatics and semantic knowledge (see Vosniadou, 1987aVosniadou, , 1987b.Although definitions of what constitutes a metaphorical comparison vary considerably (e.g., Bowdle & Gentner, 2005), it seems uncontroversial that understanding verbal metaphor involves accessing some similarity between two terms, while recognizing that two terms belong to different conventional categories. This, of course, necessitates knowledge of such categories. If so, then one can take an initial step in ascertaining whether children are capable of understanding metaphor at a given stage in development by investigating their ability to understand non-literal similarity statements, that is, that items that fall in different semantic or conceptual categories can nevertheless be similar in certain ways. Vosniadou and Ortony (1983) required children between the ages of 3 and 6, as well as adults, to complete similarity statements by selecting one of two words from either (1) a metaphorical/literal pair of alternatives, (2) a literal/anomalous pair, or (3), a metaphorical/anomalous pair. For example, the experimenter would say "A river is like a...?" and the participant was required to respond with...

show abstract

Neuropsychological, neurological, and neuroanatomical profile of Williams syndrome

Cited by 200 publications

References 28 publications

The genomic basis of the Williams – Beuren syndrome

The genomic basis of the Williams – Beuren syndrome

Love Is… AN ABSTRACT WORD: THE INFLUENCE OF LEXICAL SEMANTICS ON VERBAL SHORT-TERM MEMORY IN WILLIAMS SYNDROME

The development of metaphorical language comprehension in typical development and in Williams syndrome

Contact Info

Product

Resources

About