Síndrome de Williams e linguagem: avaliando as habilidades linguísticas mediadas pelo domínio cognitivo visuoespacial

Abstract

Williams-Beuren Syndrome (WILLIAMS, 1961; BEUREN, 1962) is constituted from a unique cognitive profile caused by a genetic disorder that compromises multiple genes of 7q11.23 region (GARCIA et al., 1964) and draws attention not only from a genetic point of view, but also regarding the performance of this population in the most varied cognitive domains. Usually described from a profile of peaks and valleys (BELLUGI et al., 2000), until nowadays, there are questions about sparsed and impaired abilities in the syndrome. Since there is still no consensus on the preservation of the linguistic domain in individuals with WS (REILLY; KLIMA; BELLUGI, 1990; BELLUGI et al., 1990, 1992, 1994; KARMILOFF-SMITH et al., 1997; THOMAS et al., 1997; THOMAS et al., 1992, 1994; al., 2001; TEMPLE; CLAHSEN, 2002; BROCK, 2007; FISHMAN, I et al., 2011; KARMILOFF-SMITH, 2015; CASHON, CH et al., 2016; FAN et al., 2017; ROSSI; GIACHETI, 2017), the study intends, based on specific assessments, to promote an investigation that considers the hypothesis that possible atypicalities found in the linguistic performance of these individuals can be taken as indirect interferences in the domain of language arising from other cognitive domains. In this research specifically, the linguistic behavior is observed, particularly in relation to aspects of the visuospatial domain, attestedly impaired by the deletion of the LIMK1 gene. For that, a language model proposed by the generative theory is assumed, more specifically the one adopted by the Minimalist Program (Chomsky, 1993 and subsequent ones), from an integrated processing point of view (CORRÊA, 2008; CORRÊA; AUGUSTO, 2013; LEVELT, 1996), in order to identify the steps involved in the processes of production and comprehension and their articulation with the interfaces assumed with other cognitive modules, thus preserving a notion of stricto sensu linguistic derivation, but establishing relationships with others cognitive modules. The population observed, 10 individuals with WS, were submitted to neurocognitive tests and anamnesis. Furthermore, in order to assess the stricto sensu linguistic domain as well as evidence of the possible impact caused by cognitive deficits in other domains on the linguistic performance of individuals with WS, the thesis presents 4 tasks, including tests with visuospatial demands and linguistic tasks without visuospatial demands: (i) MABILIN – Module 1 is a battery of evaluation of linguistic abilities focusing on high computational cost structures (CORRÊA, 2000), which does not include visuospatial demands; (ii) the Semantic and Syntactic Questions Judgment Test deals with syntactic subcategorization and semantic anomaly, particularly in PPs, without visuospatial demands; (iii) the Spatial Relationship Comprehension Test: Movement Verbs assesses the comprehension of sentences with different movement verbs in order to observe the impact of the visuospatial domain on the linguistic performance of these individuals and, finally, (iv) the Narrative Elicitation Test with Movement Verbs investigates the production of narratives from videos that include displacements and provide data on stricto sensu linguistic performance, such as the type and complexity of sentences used, as well as data related to the visuospatial cognitive domain. The results indicate, in broad terms, satisfactory performance in linguistic assessments and greater difficulty in coding visuospatial aspects, presenting, however, relevant individual variability, which does not seem to be correlated with distinctions in cognitive assessment. It is assumed, however, the relevance of observing, as defended by Landau & Lakusta (2006), possible interferences arising from memory limitations, distractions, attention, interest, leading to errors in the actual performance of individuals with WS that do not compromise the knowledge of the language itself. Thus, the present research understands that the data described here are in line with the hypothesis that atypicalities observed in the linguistic performance of individuals with WS may arise from the interface between language and other cognitive domains, such as, the one particularly tested here, the visuospatial domain