BACKGROUND:The developmental and cognitive profile of Down syndrome (DS) has been studied across various age groups, but we have still a limited understanding of the preschool-age range, including the domains that show the greatest variability at this age. Our study aims to (1) define the developmental profile in preschool-age children with DS and (2) explore variability within domains of functioning. METHOD:We assessed 43 preschool-aged children with DS (38-76 months) using the Griffiths-III scales. This tool assesses development across five scales: Foundations of Learning, Language and Communication, Eye and Hand Coordination, Personal-Social-Emotional and Gross Motor Skills. We employed multivariate linear models for analysis. RESULTS:The analyses revealed a peaks-and-valleys profile, with higher scores in the Personal-Social-Emotional and Gross Motor domains compared to the Foundations of Learning, Language and Communication and Eye and Hand Coordination scales. Notably, high interindividual variability was observed in the Language and Communication and Personal-Social-Emotional domains. CONCLUSIONS:Our findings identify strengths and weaknesses in specific domains within the preschool-aged range and show higher variability in the verbal and personal-social-emotional domains. All this information offers valuable insights for early intervention planning, supporting parents, caregivers, and stakeholders in promoting optimal development in children with DS.

BACKGROUND:This cross-national study aimed to investigate and identify the motivations that drive parents of children with Down syndrome (DS) towards or away from participating in research. METHODS:Participants were 33 parents of children with DS who took part in nine focus groups in the United States and in Italy. Answers to questions regarding motivation for research participation were transcribed and then analyzed using ATLAS.ti. RESULTS:Six themes emerged regarding parent motivation: (a) Increasing parent knowledge; (b) Interest in a specific research topic; (c) Opportunities to receive support; (d) Logistical accessibility; (e) To support the DS community; and (f) To create a more inclusive society. 'Interest in a specific research topic' and 'Logistical accessibility' emerged as the main motivating factors cross-culturally. Only subtle differences emerged between the two countries. CONCLUSION:Results of this work can inform the alignment of future DS research with community and stakeholder priorities and values.

Emerging evidence suggests that prenatal exposure to fine particulate matter (PM2.5) may adversely affect child neurodevelopment. However, studies evaluating the multidimensional nature and timing of these effects remain limited. This study investigated the association between prenatal PM2.5 exposure and child developmental outcomes in a cohort of Italian school-age children, with a focus on identifying critical exposure windows during gestation and recent WHO-recommended thresholds. Data were drawn from an observational study in Italy conducted between 2021-2022. Child development was assessed at school-age using the Developmental Profile 4 (DP-4), covering five key domains: physical, adaptive behavior, cognitive, social-emotional, and communication. Prenatal PM2.5 exposure was estimated using the satellite reanalysis dataset, and penalized functional regression models were applied to evaluate time-varying associations across pregnancy. Models adjusted for a wide range of maternal, paternal, child, and family-related confounders. Higher exposure to PM2.5 during pregnancy was significantly associated with lower total DP-4 scores. The strongest effects were observed in the cognitive and socio-emotional domains, and for exposure from the fifth month of pregnancy onward. With respect to the WHO-recommended threshold of 5μg/m3, children exhibited an average reduction of about 3 points in total developmental scores. Prenatal exposure to PM2.5, particularly during mid-to-late pregnancy, is associated with deficits in key domains of child development. These findings underscore the importance of stringent air quality standards to protect fetal brain development, especially in highly polluted regions.

In this study, we aimed to investigate the cognitive and affective-emotional factors underlying math achievement in a sample of 169 Japanese elementary school children. Using structural equation modeling, we examined the contributions of fluid and crystallized intelligence, verbal and spatial working memory, and affective-emotional variables, including general anxiety, test anxiety, math anxiety, and math self-efficacy. We found intelligence to be a strong positive predictor of math achievement, while among the affective-emotional variables, math self-efficacy emerged as the only significant predictor of math achievement. Interestingly, intelligence mediated the association between affective-emotional factors, such as math anxiety and self-efficacy, highlighting its central role in children’s math achievement. These findings underscore the strong relationship between intelligence and self-efficacy in educational contexts, suggesting that self-efficacy is closely linked to cognitive abilities to support children’s success in math. Educational implications are discussed, emphasizing the need to strengthen math self-efficacy alongside cognitive abilities.

Math anxiety negatively affects math performance and future career choices in math-related fields. Various tools assess math anxiety, but the Abbreviated Math Anxiety Scale (AMAS) is noteworthy for its ease of administration and good psychometric properties. This study evaluates the AMAS's applicability and utility in a sample of approximately 170 Japanese elementary-school children. Findings indicate that the Japanese version of the AMAS has very good internal consistency, good test-retest reliability and validity, both convergent and concurrent. Results from a multigroup analysis showed that the scale shows no gender bias, although girls scored higher on the AMAS despite similar performance to boys on a standardised math test. These findings highlight the AMAS's potential as a screening tool for math anxiety in young children.

BACKGROUND:People with Down syndrome (DS) are predisposed to challenges with executive functions (EF), which are crucial for adaptive outcomes and academic success. Early interventions targeting EF are therefore critical. The present study analysed Italian data on the acceptability, enjoyability and household implementation of EXPO (EXecutive function Play Opportunities), a novel caregiver-mediated intervention designed to strengthen EF skills in young children with DS. METHODS:Nineteen families of children aged 42-93 months participated. Caregivers completed questions via a smartphone app and provided feedback through Mid-Point and Exit questionnaires. RESULTS:Implementation and enjoyment remained consistent throughout the intervention. Caregivers reported positive effects of EXPO on children's everyday life skills and found the coaching sessions beneficial for successful program implementation. CONCLUSION:The EXPO intervention is acceptable and enjoyable for both caregivers and children, with caregivers reporting perceived improvements in children's everyday life skills after participating in the program.

BACKGROUND:Individuals with Down syndrome (DS) have an elevated likelihood of challenges with executive function (EF) throughout the lifespan, and syndrome-informed intervention approaches that strengthen these foundations during early childhood may be beneficial. This single group baseline versus postintervention pilot study presents findings from the implementation of a syndrome-informed, parent-mediated intervention designed to support the development of EF in preschool-aged children with DS (EXPO: Executive Function Play Opportunities). METHOD:Participants were 34 children aged 3-7 years old with DS and their caregivers. The full sample participated in a novel 12-week parent-mediated intervention focused on building working memory, inhibitory control, cognitive flexibility and planning skills. Participants were evaluated at baseline and poststudy for feasibility outcomes and preliminary evidence of intervention efficacy. RESULTS:Activities were feasible for families to implement and appropriate for the developmental range of participants in the study. Preliminary evidence of efficacy was observed via laboratory-based EF outcome measures. Within-sample heterogeneity in response to intervention was also observed. CONCLUSIONS:EXPO is feasible for a larger trial in its current form. Additional intervention modifications may further increase the potential impact of EXPO by addressing heterogeneity in presentations among young children with DS.

Parents of children with autism spectrum disorders (ASD) experience higher levels of stress than parents of typically-developing (TD) children, due to differences in their children’s emotional functioning. The COVID-19 pandemic exacerbated the cognitive and practical demands on vulnerable populations and their families. The aim of this study was to examine parenting stress levels in parents of children ASD and TD children, considering the children’s emotional functioning (i.e., anxiety and cognitive emotion regulation strategies), and stressful life events deriving from the COVID-19 pandemic. The study involved 64 parent–child dyads comprising children from 7 to 16 years old, divided into two groups: 32 (26 M) children and adolescents with ASD but no intellectual disability, and 32 (26 M) with typical development. Our results show that parents of children with ASD reported higher levels of stress, but factors relating to the child and the context had a different influence on parenting stress in the ASD and TD groups. The higher level of parenting stress in the ASD group seemed to relate more to the children’s emotional characteristics, while the TD group was more affected by the unpredictable stressful events prompted by COVID-19. Families’ mental health should be considered a core aspect of supporting parents having to deal with both their child’s emotional adjustment and the challenges of the COVID-19 pandemic.

Impaired numerosity perception in developmental dyscalculia (low "number acuity") has been interpreted as evidence of reduced representational precision in the neurocognitive system supporting non-symbolic number sense. However, recent studies suggest that poor numerosity judgments might stem from stronger interference from non-numerical visual information, in line with alternative accounts that highlight impairments in executive functions and visuospatial abilities in the etiology of dyscalculia. To resolve this debate, we used a psychophysical method designed to disentangle the contribution of numerical and non-numerical features to explicit numerosity judgments in a dot comparison task and we assessed the relative saliency of numerosity in a spontaneous categorization task. Children with dyscalculia were compared to control children with average mathematical skills matched for age, IQ, and visuospatial memory. In the comparison task, the lower accuracy of dyscalculics compared to controls was linked to weaker encoding of numerosity, but not to the strength of non-numerical biases. Similarly, in the spontaneous categorization task, children with dyscalculia showed a weaker number-based categorization compared to the control group, with no evidence of a stronger influence of non-numerical information on category choice. Simulations with a neurocomputational model of numerosity perception showed that the reduction of representational resources affected the progressive refinement of number acuity, with little effect on non-numerical bias in numerosity judgments. Together, these results suggest that impaired numerosity perception in dyscalculia cannot be explained by increased interference from non-numerical visual cues, thereby supporting the hypothesis of a core number sense deficit.Research Highlights A strongly debated issue is whether impaired numerosity perception in dyscalculia stems from a deficit in number sense or from poor executive and visuospatial functions. Dyscalculic children show reduced precision in visual numerosity judgments and weaker number-based spontaneous categorization, but no increasing reliance on continuous visual properties. Simulations with deep neural networks demonstrate that reduced neural/computational resources affect the developmental trajectory of number acuity and account for impaired numerosity judgments. Our findings show that weaker number acuity in developmental dyscalculia is not necessarily related to increased interference from non-numerical visual cues.

BACKGROUND:Parent-mediated intervention (PMI) is a potentially scalable approach for tailored interventions in neurogenetic conditions like Down syndrome (DS). Because PMIs require ongoing parent engagement, they must be developed in alignment with the needs of intended users. The present study examined caregiver opinions and preferences to inform the development of syndrome-informed interventions for children with DS. METHOD:Parents of children with DS (n = 34) participated in focus groups discussing PMI. Interviews were transcribed and a thematic analysis was applied to code the data. RESULTS:Three themes were identified: advantages of PMI, disadvantages of PMI and preferred features of PMI. To align with parent preferences, future PMIs for children with DS should require a brief time commitment, blend intervention activities into daily routines and include family members in activities. CONCLUSIONS:Findings have implications for developing novel interventions to support early development in children with DS and other neurogenetic conditions.

PURPOSE:This study aimed to assess the reliability and validity of the Italian translation of the Unhelpful Thoughts and Beliefs about Stuttering (UTBAS) scales for adults who stutter, as there are no assessment tools currently available in Italy. The UTBAS scales provide a comprehensive stuttering-specific measure of the unhelpful thoughts and beliefs that can be used to screen for indicators of social anxiety in adults who stutter. Additionally, the UTBAS scales also allow the identification of negative thoughts and beliefs that negatively impact speech treatment outcomes. METHOD:The translation of the UTBAS scales into Italian (UTBAS-ITA) was completed using the forward-backward translation process and it was administered to 98 adults who stutter (AWS) and 98 adults who do not stutter (AWNS). Both groups were matched for gender and age. We also administered the UTBAS-ITA to 76 AWS a second time within a two-week interval to assess test-retest reliability. Additionally, we administered the State-Trait Anxiety Inventory and the Fear of Negative Evaluation Scale to 20 AWS to assess concurrent validity. RESULTS:The UTBAS-ITA showed good power of discrimination between AWS and AWNS, high internal validity, high internal consistency, good construct validity, and good test-retest reliability. CONCLUSION:Since there is a scarcity of clinical assessment tools for adults who stutter in Italy, the UTBAS-ITA could serve as an assessment tool and outcome measure for clinical and research environments.

New insights regarding the early emergence of phenotypic patterns of strength and challenge in neurogenetic conditions afford the possibility of personalized, anticipatory intervention approaches. The development of novel 'syndrome-informed' interventions, however, should incorporate principles that will maximize the utility of intervention activities for as many children with a given neurogenetic condition as possible. This review examines several of these dimensions, including the use of community-engaged frameworks to ensure feasibility and acceptability of novel interventions; the development of cross-nationally valid approaches that can be readily translated into other languages and cultural contexts; and the use of adaptive interventions designs that allow for the tailoring of intervention pathways based on key child dimensions. A case example of the use of these principles is presented in the context of EXPO, a novel executive function intervention designed for young children with Down syndrome. Implications for future intervention development are discussed.

BACKGROUND:The role of domain-general cognitive abilities in the etiology of Developmental Dyscalculia (DD) is a hotly debated issue. AIMS:In the present study, we tested whether WISC-IV cognitive profiles can be useful to single out DD. METHODS AND PROCEDURES:Using a stringent 2-SD cutoff in a standardized numeracy battery, we identified children with DD (N = 43) within a clinical sample referred for assessment of learning disability and compared them in terms of WISC cognitive indexes to the remaining children without DD (N = 100) employing cross-validated logistic regression. OUTCOMES AND RESULTS:Both groups showed higher Verbal Comprehension and Perceptual Reasoning than Working Memory and Processing Speed, and DD scores were generally lower. Predictive accuracy of WISC indexes in identifying DD individuals was low (AUC = 0.67) and it dropped to chance level in discriminating DD from selected controls (N = 43) with average math performance but matched on global IQ. The inclusion of a visuospatial memory score as an additional predictor did not improve classification accuracy. CONCLUSIONS AND IMPLICATIONS:These results demonstrate that cognitive profiles do not reliably discriminate DD from non-DD children, thereby weakening the appeal of domain-general accounts.

There is a host of research on the structure of working memory (WM) and its relationship with intelligence in adults, but only a few studies have involved children. In this paper, several different WM models were tested on 170 Japanese school children (from 7 years and 5 months to 11 years and 6 months). Results showed that a model distinguishing between modalities (i.e., verbal and spatial WM) fitted the data well and was therefore selected. Notably, a bi-factor model distinguishing between modalities, but also including a common WM factor, presented with a very good fit, but was less parsimonious. Subsequently, we tested the predictive power of the verbal and spatial WM factors on fluid and crystallized intelligence. Results indicated that the shared contribution of WM explained the largest portion of variance of fluid intelligence, with verbal and spatial WM independently explaining a residual portion of the variance. Concerning crystallized intelligence, however, verbal WM explained the largest portion of the variance, with the joint contribution of verbal and spatial WM explaining the residual part. The distinction between verbal and spatial WM could be important in clinical settings (e.g., children with atypical development might struggle selectively on some WM components) and in school settings (e.g., verbal and spatial WM might be differently implicated in mathematical achievement).

Down syndrome (DS) or trisomy 21 is the most common genetic cause of intellectual disability (ID), but a pathogenic mechanism has not been identified yet. Studying a complex and not monogenic condition such as DS, a clear correlation between cause and effect might be difficult to find through classical analysis methods, thus different approaches need to be used. The increased availability of big data has made the use of artificial intelligence (AI) and in particular machine learning (ML) in the medical field possible. The purpose of this work is the application of ML techniques to provide an analysis of clinical records obtained from subjects with DS and study their association with ID. We have applied two tree-based ML models (random forest and gradient boosting machine) to the research question: how to identify key features likely associated with ID in DS. We analyzed 109 features (or variables) in 106 DS subjects. The outcome of the analysis was the age equivalent (AE) score as indicator of intellectual functioning, impaired in ID. We applied several methods to configure the models: feature selection through Boruta framework to minimize random correlation; data augmentation to overcome the issue of a small dataset; age effect mitigation to take into account the chronological age of the subjects. The results show that ML algorithms can be applied with good accuracy to identify variables likely involved in cognitive impairment in DS. In particular, we show how random forest and gradient boosting machine produce results with low error (MSE <0.12) and an acceptable R2 (0.70 and 0.93). Interestingly, the ranking of the variables point to several features of interest related to hearing, gastrointestinal alterations, thyroid state, immune system and vitamin B12 that can be considered with particular attention for improving care pathways for people with DS. In conclusion, ML-based model may assist researchers in identifying key features likely correlated with ID in DS, and ultimately, may improve research efforts focused on the identification of possible therapeutic targets and new care pathways. We believe this study can be the basis for further testing/validating of our algorithms with multiple and larger datasets.

The purpose of this study was to identify developmental profiles associated with autism spectrum disorder (ASD) and global developmental delay (DD) in pre-school aged Italian children. Developmental profiles were evaluated by means of a standardized tool widely used for the assessment of psychomotor development in early childhood, the Griffiths III scales, recently adapted and standardized for the Italian population. Specifically, we compared the Griffiths III profiles of children with ASD and DD (ASD + DD) with those of children with DD alone. Moreover, we inspected the psychometric function of single items by comparing children with ASD + DD and children with DD with typically developing (TD) children from the Griffiths III normative sample. In this way, we aimed to isolate the effects of each diagnostic class on psychomotor abilities and on the psychometric function of single items. The ASD + DD and DD groups were found to share the presence of lower age equivalent scores relative to their chronological age in all the developmental domains considered: Foundations of Learning, Language and Communication, Eye and Hand Coordination, Personal-Social-Emotional and Gross Motor Skills. However, the DD group displayed a homogeneous profile with similar levels of delay in all developmental domains, while children with ASD + DD exhibited relative weaknesses in the Language and Communication and Personal-Social-Emotional scales. The analysis of the psychometric function drawn for each item has confirmed different profiles in social-communicative and non-verbal items between the two diagnostic groups and in relation to TD normative sample. The Griffiths III is a valid psychometric tool for identifying atypical developmental profiles and its use may be recommended during the diagnostic process of ASD and DD, to detect specific strengths and weaknesses and guide person-centered treatment.