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Purpose: Prediction of developmental language disorder in children under 3 years of age is challenging. Among early risk factors, research has focused on having a positive familial history (FH+) for language or literacy problems and on late language emergence, that is, late-talker (LT) status. The interaction between these two risk factors and their cumulative effect is still debated. Here, we (a) investigate the effect of FH+ on 24-month language development, (b) test for cumulative effects of FH+ status and early language delay on 36-month language outcomes, and (c) disentangle the direct and indirect effects of familial history (FH) on the language outcome., Method: One hundred eighty-five Italian children were followed up longitudinally between 24 and 36 months of age (64 FH+ and 121 FH-) through parental questionnaires and direct child assessment., Results: At the age of 24 months, the FH+ group showed worse expressive vocabulary and higher prevalence of LT. At the age of 36 months, main effects of LT and FH were identified on lexical and phonological performances, respectively. Interestingly, significant interaction effects were identified on expressive vocabulary and phonological processing. Path analysis highlights that FH had a direct effect on later measures of phonology, whereas its effect on 36-month lexical abilities was indirect, via measures of expressive vocabulary at 24 months., Conclusions: The study suggests specific predictive roles of FH and LT status on language development. Interestingly, FH+ seems to represent an additive risk for LT children. The use of cumulative risk measures is confirmed as a powerful approach to identify those children with the highest probability of developing persistent language difficulties., Supplemental Material: https://doi.org/10.23641/asha.26790580.

Background: Interactive telemedicine applications have been progressively introduced in the assessment of cognitive and literacy skills. However, there is still a lack of research focusing on the validity of this methodology for the neuropsychological assessment of children with Specific Learning Disorder (SLD)., Methods: Seventy-nine children including 40 typically developing children (18 males, age 11.5 ± 1.06) and 39 children with SLD (24 males, age 12.3 ± 1.28) were recruited. Each participant underwent the same neuropsychological battery assessing reading accuracy, speed, and comprehension, writing, numerical processing, computation, and semantic numerical sense, twice (once during an in-person session (I) and once during a remote (R) home-based videoconference session). Four groups were subsequently defined based on the administration order. Repeated-measure-ANOVAs with assessment type (R vs. I testing) as within-subject factor and diagnosis (SLD vs. TR) and administration order (R-I vs. I-R) as between-subject factors, and between-group t-tests comparing the two assessment types within each time of administration, were run., Results: No differences emerged between I and R assessments of reading accuracy and speed, numerical processing, and computation; on the contrary, potential biases against R assessment emerged when evaluating skills in writing, reading comprehension, and semantic numerical sense. However, regardless of the assessment type, the scores obtained with I and R assessments within the same administration time point overlapped., Discussion: These results partially support the validity and reliability of the assessment of children's learning skills via a remote home-based videoconferencing system. Implementing telemedicine as an assessment tool may increase timely access to primary health care and to support research activity., Competing Interests: The authors declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article., (© The Author(s) 2024.)

Background: An intronic deletion within intron 2 of the DCDC2 gene encompassing the entire READ1 (hereafter, READ1d) has been associated in both children with developmental dyslexia (DD) and typical readers (TRs), with interindividual variation in reading performance and motion perception as well as with structural and functional brain alterations. Visual motion perception -- specifically processed by the magnocellular (M) stream -- has been reported to be a solid and reliable endophenotype of DD. Hence, we predicted that READ1d should affect neural activations in brain regions sensitive to M stream demands as reading proficiency changes., Methods: We investigated neural activations during two M-eliciting fMRI visual tasks (full-field sinusoidal gratings controlled for spatial and temporal frequencies and luminance contrast, and sensitivity to motion coherence at 6%, 15% and 40% dot coherence levels) in four subject groups: children with DD with/without READ1d, and TRs with/without READ1d., Results: At the Bonferroni-corrected level of significance, reading skills showed a significant effect in the right polar frontal cortex during the full-field sinusoidal gratings-M task. Regardless of the presence/absence of the READ1d, subjects with poor reading proficiency showed hyperactivation in this region of interest (ROI) compared to subjects with better reading scores. Moreover, a significant interaction was found between READ1d and reading performance in the left frontal opercular area 4 during the 15% coherent motion sensitivity task. Among subjects with poor reading performance, neural activation in this ROI during this specific task was higher for subjects without READ1d than for READ1d carriers. The difference vanished as reading skills increased., Conclusions: Our findings showed a READ1d-moderated genetic vulnerability to alterations in neural activation in the ventral attentive and salient networks during the processing of relevant stimuli in subjects with poor reading proficiency., (© 2024. The Author(s).)

Background: Duchenne Muscular Dystrophy (DMD) is a genetic disease in which lack of the dystrophin protein causes progressive muscular weakness, cardiomyopathy and respiratory insufficiency. DMD is often associated with other cognitive and behavioral impairments, however the correlation of abnormal dystrophin expression in the central nervous system with brain structure and functioning remains still unclear., Objective: To investigate brain involvement in patients with DMD through a multimodal and multivariate approach accounting for potential comorbidities., Methods: We acquired T1-weighted and Diffusion Tensor Imaging data from 18 patients with DMD and 18 age- and sex-matched controls with similar cognitive and behavioral profiles. Cortical thickness, structure volume, fractional anisotropy and mean diffusivity measures were used in a multivariate analysis performed using a Support Vector Machine classifier accounting for potential comorbidities in patients and controls., Results: the classification experiment significantly discriminates between the two populations (97.2% accuracy) and the forward model weights showed that DMD mostly affects the microstructural integrity of long fiber bundles, in particular in the cerebellar peduncles (bilaterally), in the posterior thalamic radiation (bilaterally), in the fornix and in the medial lemniscus (bilaterally). We also reported a reduced cortical thickness, mainly in the motor cortex, cingulate cortex, hippocampal area and insula., Conclusions: Our study identified a small pattern of alterations in the CNS likely associated with the DMD diagnosis.

Learning to read is a dynamic and cumulative process beginning from birth and continuing through the school years. Empirical data showed a decrease of additive genetic (A) and shared environmental (C) components and an increase of non-shared environmental (E) components from preschool to middle school. However, our understanding of the aetiology of continuity and change of reading skills across this developmental period is limited. Following the PRISMA guidelines, we reviewed the results of behavioral genetic research on reading-related neurocognitive skills of 13 longitudinal twin and adoptive sibling studies spanning from preschool/kindergarten to middle/high school. Our findings suggested that continuity was mainly explained by A components throughout the study periods, and, although to a lesser extent and less consistently, by C components during the early years; change was explained by new E components throughout the years, and also by new A components in the early years. As we are interested in models relevant to traits with early onset during development, it is crucial to deepen the investigation of how developmental time can moderate the genetic and environmental variation., (Copyright © 2024 Elsevier Ltd. All rights reserved.)

Action video-games (AVGs) could improve reading efficiency, enhancing not only visual attention but also phonological processing. Here we tested the AVG effects upon three consolidated language-based predictors of reading development in a sample of 79 pre-readers at-risk and 41 non-at-risk for developmental dyslexia. At-risk children were impaired in either phonemic awareness (i.e., phoneme discrimination task), phonological working memory (i.e., pseudoword repetition task) or rapid automatized naming (i.e., RAN of colours task). At-risk children were assigned to different groups by using an unequal allocation randomization: (1) AVG (n = 43), (2) Serious Non-Action Video Game (n = 11), (3) treatment-as-usual (i.e., speech therapy, n = 11), and (4) waiting list (n = 14). Pre- and post-training comparisons show that only phonemic awareness has a significantly higher improvement in the AVG group compared to the waiting list, the non-AVG, and the treatment-as-usual groups, as well as the combined active groups (n = 22). This cross-modal plastic change: (i) leads to a recovery in phonemic awareness when compared to the not-at-risk pre-readers; (ii) is present in more than 80% of AVG at-risk pre-readers, and; (iii) is maintained at a 6-months follow-up. The present findings indicate that this specific multisensory attentional training positively affects how phonemic awareness develops in pre-readers at risk for developmental dyslexia, paving the way for innovative prevention programs., (© 2024. The Author(s).)

To determine the validity of parent reports (PRs) of ADHD in preschoolers, we assessed hyperactivity/impulsivity (HI) and inattention (IN) in 1114 twins with PRs at 1.5, 2.5, 4, 5, 14, 15, and 17 years, and teacher-reports at 6, 7, 9, 10, and 12. We examined if preschool PRs (1) predict high HI/IN trajectories, and (2) capture genetic contributions to HI/IN into adolescence. Group-based trajectory analyses identified three 6-17 years trajectories for both HI and IN, including small groups with high HI ( N = 88, 10.4%, 77% boys) and IN ( N = 158, 17.3%, 75% boys). Controlling for sex, each unit of HI PRs starting at 1.5 years and at 4 years for IN, increased more than 2-fold the risk of belonging to the high trajectory, with incremental contributions (Odds Ratios = 2.5-4.5) at subsequent ages. Quantitative genetic analyses showed that genetic contributions underlying preschool PRs accounted for up to a quarter and a third of the heritability of later HI and IN, respectively. Genes underlying 1.5-year HI and 4-year IN contributed to 6 of 8 later HI and IN time-points and largely explained the corresponding phenotypic correlations. Results provide phenotypic and genetic evidence that preschool parent reports of HI and IN are valid means to predict developmental risk of ADHD.