Narrative skills play a crucial role in organizing experience, facilitating social interaction and building academic discourse and literacy. They are at the interface of cognitive, social, and linguistic abilities related to school engagement. Despite their relative strengths in social and grammatical skills, students with Williams syndrome (WS) do not show parallel cognitive and pragmatic performance in narrative generation tasks. The aim of the present study was to assess retelling of a TV cartoon tale and the effect of an individualized explicit instruction of the narrative structure. Participants included eight students with WS who attended different special education levels. Narratives were elicited in two sessions (pre and post intervention), and were transcribed, coded and analyzed using the tools of the CHILDES Project. Narratives were coded for productivity and complexity at the microstructure and macrostructure levels. Microstructure productivity (i.e., length of narratives) included number of utterances, clauses, and tokens. Microstructure complexity included mean length of utterances, lexical diversity and use of discourse markers as cohesive devices. Narrative macrostructure was assessed for textual coherence through the Pragmatic Evaluation Protocol for Speech Corpora (PREP-CORP). Macrostructure productivity and complexity included, respectively, the recall and sequential order of scenarios, episodes, events and characters. A total of four intervention sessions, lasting approximately 20 min, were delivered individually once a week. This brief intervention addressed explicit instruction about the narrative structure and the use of specific discourse markers to improve cohesion of story retellings. Intervention strategies included verbal scaffolding and modeling, conversational context for retelling the story and visual support with pictures printed from the cartoon. Results showed significant changes in WS students’ retelling of the story, both at macro- and microstructure levels, when assessed following a 2-week interval. Outcomes were better in microstructure than in macrostructure, where sequential order (i.e., complexity) did not show significant improvement. These findings are consistent with previous research supporting the use of explicit oral narrative intervention with participants who are at risk of school failure due to communication impairments. Discussion focuses on how assessment and explicit instruction of narrative skills might contribute to effective intervention programs enhancing school engagement in WS students.
The chromosome 1q21.1 duplication syndrome (OMIM# 612475) is characterized by head anomalies, mild facial dysmorphisms, and cognitive problems, including autistic features, mental retardation, developmental delay, and learning disabilities. Speech and language development are sometimes impaired, but no detailed characterization of language problems in this condition has been provided to date. We report in detail on the cognitive and language phenotype of a child who presents with a duplication in 1q21.1 (arr[hg19] 1q21.1q21. 2(145,764,455-147,824,207)×3), and who exhibits cognitive delay and behavioral disturbances. Language is significantly perturbed, being the expressive domain the most impaired area (with significant dysphemic features in absence of pure motor speech deficits), although language comprehension and use (pragmatics) are also affected. Among the genes found duplicated in the child, CDH1L is upregulated in the blood of the proband. ROBO1, a candidate for dyslexia, is also highly upregulated, whereas, TLE3, a target of FOXP2, is significantly downregulated. These changes might explain language, and particularly speech dysfunction in the proband.
Linguistic phenotypes of individuals with Fragile X (FXS) and Williams (WS) syndromes exhibit various degrees of pragmatic impairment, involving difficulties in social communication and in adapting to conversational principles. The goal of the present study was to explore syndrome-specific pragmatic profiles of adults with FXS and WS based on the assessment of the observance of Gricean maxims of conversation. The participants were 12 Spanish-speaking adults (6 FXS/6 WS), without a diagnosis of ASD, whose extensive naturalistic conversations (71,859 words) were transcribed and coded with the CHILDES/TALKBANK tools and the PREP-CORP pragmatic protocol. Violations of the maxims of conversation were analyzed, and indexes of cooperation and conversational response were obtained. Both groups showed reduced verbal production and repetitive dysfluencies; prominent features in the FXS profile were higher proportion of non-contingent language, perseverations of topic and form, and impulsive conversational responses; in the WS profile, salient characteristics were higher proportion of tangential utterances, reformulations, and conversational responses reflecting overly literal interpretation. Pragmatic profiles of violation of conversational maxims reflect specific communication skills impaired in adults with FXS and WS and raise the need for assessment and intervention methods that specifically address their social communication abilities.
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