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Objectives: Autism spectrum disorder (ASD) is a neurological condition that affects social communication and causes repetitive behavior. Autistic children often have comorbidities such as epilepsy. Although the co-occurrence of epilepsy and ASD is frequent, the genetic basis for this association is not fully understood. Many cases of ASD and epilepsy remain unresolved without a molecular diagnosis. The purpose of this study was to determine the molecular diagnostic yield in two Saudi families with a single affected offspring with both ASD and epilepsy using whole-exome sequencing (WES). Methods: Pediatric patients were diagnosed by a pediatric psychiatrist and neurologist, and diagnosed according to the diagnostic and statistical manual of mental disorders (DSM-V) criteria. WES was used to analyze the coding region of DNA from the two trios. Enrichment analysis was performed on the final list of genes. Results: De novo variations were detected in eleven genes (two in ZBTB17 and FRG, and one each in CAD, CTNNA3, GILGA8J, CCZ1, CASKIN1, growth differentiation factor (GDF7), NBPF10, DUX4L4, and ZNF681). Variations in CTNNA3, GOLGA8J, CASKIN1, CCZ1, and NBPF10 genes were correlated to autism. In addition, similar studies found that CAD, CASKIN1, and GOLGA8J were candidate genes for epilepsy. FRG1 and DUX4 variations were associated with facioscapulohumeral muscular dystrophy. The expression of ZBTB17 and GDF was high in nervous system, and variations in these genes might be correlated to autism and epilepsy. Conclusion: Not all the genes presumed to cause ASD and epilepsy in this study were previously identified, suggesting that more genes were suspected of being involved in ASD and epilepsy co-occurrence.
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The proliferation of automated syntactic complexity tools allowed the analysis of larger amounts of learner writing. However, existing tools tend to be language-specific or depend on segmenting learner production into native-based units of analysis. This study examined the utility of a language-general and unsupervised linguistic complexity metric: Kolmogorov complexity in discriminating between L2 proficiency levels within several languages (Czech, German, Italian, English) and across various L1 backgrounds (N = 10) using two large CEFR-rater learner corpora. Kolmogorov complexity was measured at three levels: syntax, morphology, and overall linguistic complexity. Pairwise comparisons indicated that all Kolmogorov complexity measures discriminated among the proficiency levels within the L2s. L1-based variation in complexity was also observed. Distinct syntactic and morphological complexity patterns were found when L2 English writings were analyzed across versus within L1 backgrounds. These results indicate that Kolmogorov complexity could serve as a valuable metric in L2 writing research due to its cross-linguistic flexibility and holistic nature.
Asunto(s)
Multilingüismo , Lenguaje , Lingüística , Pruebas del Lenguaje , EscrituraRESUMEN
Arabic is understudied in second-language research (L2) and lacks rapid and adequate tools for measuring proficiency. Drawing inspiration from LexTALE and its extensions, this study created and validated a quick receptive vocabulary size test to estimate L2 Arabic proficiency. In Experiment 1, the initial version of LexArabic was designed and evaluated with 192 L1 and L2 speakers. Item analysis using point-biserial correlations and item response theory (IRT) was conducted to refine the test, resulting in a final version with 90 items (60 words, 30 nonwords). Experiment 2 assessed LexArabic reliability, validity, and accuracy using a new group of 260 L1 and L2 speakers. The validity of LexArabic was evaluated through objective tasks (a general Arabic proficiency test, L1 to L2 translation task, L2 to L1 translation task) as well as subjective tasks (self-rated proficiency). Results showed that LexArabic demonstrated good reliability (α > 90), validity (correlation with two objective tasks and one subjective task), as well as accuracy (AUC value = .88). The introduction of LexArabic has the potential to facilitate experimental research on both L1 and L2 Arabic speakers and contributes to the development of standardized L2 proficiency assessment across languages.
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Previous psycholinguistic research has shown that Second Language (L2) speakers could learn from engaging in prediction. Few works have directly examined the relationship between prediction and L2 syntactic learning. Further, relatively limited attention has been paid to the effects of two linguistic factors in this area: structure type and L2 proficiency. Using a mixed experimental design, 147 L2 Arabic speakers with varying L2 proficiency levels completed two syntactic priming experiments, each targeting a different structure: (a) the dative and (b) Temporal Phrases (TP). The experimental conditions required participants to predict what the upcoming sentence's structure would be. The experimental conditions differed in the degree of engagement in prediction error. Results suggested that Arabic L2 speakers at different proficiency levels showed enhanced priming and short-term learning for two syntactic structures (PO, fronted TP) when (a) instructed to guess only (constrained condition) as well as when (b) instructed to guess and compute the prediction error (unconstrained condition), relative to the controls. These results imply a guessing benefit for priming and short-term learning. Participants also experienced different priming effects by structure type, but there was no significant effect for proficiency. The theoretical and practical implications of these findings are discussed.