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Genetic and environmental contributions to semantic processing in Williams syndrome
Poster Session D, Thursday, October 1, 4:30 - 6:30 pm, Wangari Maathai
Marta Almería-Morena1, Marius V. Oprea2, Carlos Romero-Rivas2; 1Universidad Autónoma de Madrid, 2Mind, Brain and Behavior Research Center, Universidad de Granada
Williams syndrome (WS) is a neurogenetic disorder caused by a deletion of 25 – 27 genes on chromosome 7q11.23 (approximately 95% of diagnosed cases). However, both longer and shorter genetic deletions may also occur. The syndrome involves various medical conditions and is typically associated to moderate intellectual disability. The linguistic profile is particularly interesting, as it has been considered a relative strength compared to the overall level of intellectual ability. Our study aims to contribute to a more detailed understanding of linguistic abilities in WS. Specifically, the objective is to explore semantic processes and the genetic and environmental contributions to these processes. To this end, 45 individuals diagnosed with WS (mean age = 24.77 years, range: 9.92 – 48.17, 18 females) participated in a semantic priming paradigm, comprising a training phase in which participants learnt ten pseudowords and their meanings (on Day 1), followed by a semantic priming task (i.e., a lexical decision task), in which both the previously studied pseudowords and real words were used as primes, and a memory test (both tests administered both on Day 1 and Day 2). In addition, CGH arrays were used to determine the participants’ genetic profiles, and questionnaires were administered regarding various environmental factors. Data from the semantic tests were correlated with the size of the deletion and with environmental variables. Results showed a robust semantic priming effect, regardless of whether participants were presented with real words or the newly learnt pseudowords as primes (p < .001). These results thus suggest that the pseudowords were quickly incorporated into related semantic fields. It is also important to note that this semantic integration occurred both on Day 1 and Day 2, with no differences between the testing timepoints, suggesting that the beneficial effect of a consolidation period during sleep may not be needed in WS. Results on the memory test showed significantly higher accuracy rates for Day 1 compared to Day 2, consistent with the forgetting curve effect (p = 0.039). Regarding the genetic results, although the extent of the deletion in the critical WS region predicted verbal IQ (r = -0.32; p = 0.015), it was not associated with the magnitude of semantic priming (r = 0.19; p = 0.30 for real words; r = 0.15; p = 0.40 for pseudowords). However, environmental and developmental factors, such as the participants’ mothers’ educational level (r = 0.35; p = 0.03 for real words; r = -0.32; p = 0.05 for pseudowords) or participants’ level of sociability (r = 0.40; p = 0.01 for real words; r = 0.30; p = 0.07 for pseudowords), were associated with the semantic priming effects. To conclude, in this study we showed that people with WS exhibit semantic priming effects with real words (as occurs in people with typical development). We also demonstrated that they are capable of integrating new semantic information both immediately after training and after a consolidation period. Finally, we explored how genetic factors, as well as various environmental factors, relate to these semantic processes.
Topic Areas: Disorders: Developmental,