Cognitive vs. Linguistic Training in Children with Developmental Language Disorder: Exploring Their Effectiveness on Verbal Short-Term Memory and Verbal Working Memory.

The present study explores comparatively the effectiveness of a cognitive (verbal short-term memory (vSTM), verbal working memory (vWM)) and of a linguistic training (10-week duration each) in the diffusion of gains in cognitive abilities (vSTM and vWM) of in school-aged Greek-speaking children with developmental language disorder (DLD). To this purpose, two computerized training programs i.e., a linguistic and a cognitive one, were developed and applied to three groups (A, B, and C) of children with DLD (N = 49, in total). There were three assessments with two vSTM tasks (non-word repetition and forward digit span) and a vWM task (backward digit span): pre-therapeutically (time 1), where no significant between-group differences were found, post-therapeutically I (time 2), and post-therapeutically II (time 3) and two training phases. In phase Ι, group A received meta-syntactic training, whereas group B vSTM/vWM training and group C received no training. In phase ΙΙ, a reversal of treatment was performed for groups A and B: group A received vSTM/vWM while group B meta-syntactic training. Again, group C received no training. Overall, the results indicated a significant performance improvement for the treatment groups and revealed beneficial far-transfer effects as language therapy can affect vSTM and vWM in addition to direct and near transfer effects. In addition, the intervention type order affected performance as follows: first, better performance on the vSTM task (non-word repetition) was shown when the linguistic treatment was delivered first; second, better performance on the vWM in Time 2 and Time 3 was shown by group B, for which the cognitive treatment was delivered first. Concluding, not only intervention type but also intervention type order can affect performance in DLD.

Novel clinical, molecular and bioinformatics insights into the genetic background of autism.

BACKGROUND: Clinical classification of autistic patients based on current WHO criteria provides a valuable but simplified depiction of the true nature of the disorder. Our goal is to determine the biology of the disorder and the ASD-associated genes that lead to differences in the severity and variability of clinical features, which can enhance the ability to predict clinical outcomes. METHOD: Novel Whole Exome Sequencing data from children (n = 33) with ASD were collected along with extended cognitive and linguistic assessments. A machine learning methodology and a literature-based approach took into consideration known effects of genetic variation on the translated proteins, linking them with specific ASD clinical manifestations, namely non-verbal IQ, memory, attention and oral language deficits. RESULTS: Linear regression polygenic risk score results included the classification of severe and mild ASD samples with a 81.81% prediction accuracy. The literature-based approach revealed 14 genes present in all sub-phenotypes (independent of severity) and others which seem to impair individual ones, highlighting genetic profiles specific to mild and severe ASD, which concern non-verbal IQ, memory, attention and oral language skills. CONCLUSIONS: These genes can potentially contribute toward a diagnostic gene-set for determining ASD severity. However, due to the limited number of patients in this study, our classification approach is mostly centered on the prediction and verification of these genes and does not hold a diagnostic nature per se. Substantial further experimentation is required to validate their role as diagnostic markers. The use of these genes as input for functional analysis highlights important biological processes and bridges the gap between genotype and phenotype in ASD.

Assessing phonological short-term memory in Greek: Reliability and validity of a non-word repetition test.

This study explores the reliability and validity of a NWR task in a large cohort of 387 TD Greek-speaking children aged 7-13 years attending elementary (Grades 2-6) and secondary school (Grade 1), divided into six age groups. Further, the relationship between NWR and reading fluency skills as well as the predictive value of the NWR on reading fluency skills in TD children are examined. To investigate the external reliability of the NWR task, test-retest reliability was performed, and excellent test-retest reliability was found. Internal reliability was explored with Cronbach's alpha coefficient and good reliability was found. To explore convergent validity, correlation analysis between NWR and reading fluency was conducted and significant and strong correlations were found for all age groups excepted 2 (ages 9-10 and 12-13). To examine predictive validity, regression analysis was conducted between these two variables and showed that performance on NWR contributed significantly to reading fluency skills, suggesting that NWR skills are a good predictor of reading skills. Finally, it was explored whether the relevant scores increase as a function of age and found significant differences between groups that differed in 2 years or more, while this difference was no longer significant after 10 years. This finding suggests that phonological STM increases in capacity along with age, but only until the age of 10, where it seems to reach a ceiling. In addition, linear regression analysis showed that age contributed significantly to performance on NWR test. To sum up, the present study provides normative data of a NWR test for a wide age range, which does not exist in the Greek language (particularly for ages over 9 years) and it can be concluded that the present NWR test can be successfully used as a reliable and valid measure of phonological STM in the age range that was examined in this study.