Williams syndrome from a clinical perspective

Siegmüller, Julia; Bartke, Susanne

doi:10.1075/lald.36.05sie

Cited by 4 publications

(6 citation statements)

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“…This is another genetic condition, less frequent but equally characterized by MR and typified by a number of severe medical anomalies, such as facial dysmorphology and abnormalities of the cardiovascular system (Siegmuller and Bartke, 2004). Differently from DS, WS children often show marked impairment in certain visual-spatial abilities (especially praxic-constructive) and relative preservation of both productive and receptive language, at least concerning the phonological elements (Vicari et al, 2004a, b).…”

Section: Introductionmentioning

confidence: 98%

Motor Development and Neuropsychological Patterns in Persons with Down Syndrome

2006

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Neuropsychological research has permitted defining specific cognitive profiles among individuals with mental retardation (MR) of different etiology. Namely, the cognitive profile of people with Down syndrome (DS) is often reported to be characterized by a deficit in language abilities that usually exceed impairments in visual-spatial capacities. However, recent studies have demonstrated a more complex neuropsychological profile in this population, with atypical development in the cognitive and in the linguistic domain. This paper is dedicated to reviewing literature regarding motor, linguistic and cognitive abilities in DS. Our aim is to present evidences supporting the hypothesis that individuals with these syndrome exhibit a peculiar motor development and neuropsychological profile with some abilities more preserved and others more impaired. This finding may have theoretical and practical implications. In fact, a better definition of the cognitive pattern in DS may contribute to understand the nature of MR in general and, also, it may suggests individualized rehabilitation treatment protocols.

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Section: Introductionmentioning

confidence: 98%

Motor Development and Neuropsychological Patterns in Persons with Down Syndrome

2006

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“…For about 20 years now, researchers in the cognitive sciences have taken an interest in individuals suffering from Williams syndrome (WS), a rare genetic disease (1 out of every 20,000 births) caused by a microdeletion on the long arm of chromosome 7 (7q11.23) that results in the loss of about 16-25 genes (Bellugi, Lichtenberger, Jones, Lai, & St George, 2000;Karmiloff-Smith, 1998;Siegmu¨ller & Bartke, 2004). Physiologically, persons with WS are characterized by a heart condition (supravalvular aortic stenosis) and a facial dysmorphology that makes them look elflike.…”

Section: Introductionmentioning

confidence: 99%

Narration and collaborative conversation in French-speaking children with Williams syndrome

Lacroix

Bernicot

Reilly

2007

Journal of Neurolinguistics

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“…It can be agreed that the language functioning of WS is complex and the debates in this area are far from resolved (Siegmuller & Bartke, 2004). It remains important to continue to investigate any possible linguistic strengths that may exist in the WS population.…”

Section: Discussionmentioning

confidence: 99%

“…It has been shown that WS individuals display higher scores on some linguistic measures than DS individuals, who show parallel scores in verbal and non-verbal tasks (Bellugi et al, 1990(Bellugi et al, , 1993Siegmuller & Bartke, 2004;Ypsilanti, Grouios, Alevriadou, & Tsapkini, 2005), despite the fact that they have similar mental ages to the WS individuals. If participants with WS do in fact show better language skills relative to their non-verbal performance, then it can be predicted that the WS individuals in this study will outperform the individuals with DS.…”

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confidence: 95%

“…It is quite clear that the linguistic functioning of individuals with WS continues to be controversial (Siegmuller & Bartke, 2004). Reasons for the differences in performances across verbal and non-verbal abilities include the following: (a) studies with small sample sizes; (b) an assumption that WS is a homogeneous group; (c) different and/or insufficient matching procedures (based on average ages of large groups or matching on performance IQ alone) (see Mervis & Klein-Tasman (2004) for further discussion).…”

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confidence: 99%

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Language abilities in Williams syndrome: Exploring comprehension, production and repetition skills

Joffe¹,

Varlokosta

2007

Advances in Speech Language Pathology

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The present paper investigates the verbal and non-verbal abilities of a group of ten individuals with Williams syndrome (WS) in order to explore the debates surrounding the language functioning of this population and the controversial claims that the WS profile supports the dissociation between language and cognition as well as possible dissociations within the language module. A range of standardized and non-standardized measures was employed to assess WS individuals' language abilities with particular focus on two morphosyntactic phenomena, past tense and plural inflection. These morphosyntactic features were investigated through three assessment types: elicitation, comprehension and repetition. Performance was compared with chronological and cognitive age-matched Down's syndrome (DS) controls as well as with a younger cognitively agematched typically developing (TD) cohort. Overall results for the WS group reveal significant linguistic impairments across most of the language measures with little evidence of the reported spared linguistic abilities in the WS population. Better performance was evident on standardized lexical versus grammatical tasks. A regularity advantage in the WS group with both past tense and plural elicitation was replicated in the TD group, and in the DS cohort with plurals. The relatively poor performance of the WS group on both past tense elicitation and comprehension, and the better performance on plurals reflect difficulties with the concept and understanding of past tense in the context of a better understanding of number.

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Williams syndrome from a clinical perspective

Cited by 4 publications

References 0 publications

Motor Development and Neuropsychological Patterns in Persons with Down Syndrome

Motor Development and Neuropsychological Patterns in Persons with Down Syndrome

Narration and collaborative conversation in French-speaking children with Williams syndrome

Language abilities in Williams syndrome: Exploring comprehension, production and repetition skills

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