Parent Perspectives on Parent-Mediated Intervention for Young Children With Down Syndrome.

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.

Italian normative data for the Unhelpful Thoughts and Beliefs about Stuttering (UTBAS) Scales for adults who stutter.

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.

Weaker number sense accounts for impaired numerosity perception in dyscalculia: Behavioral and computational evidence.

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.

Cross-sectional developmental trajectories in the adaptive functioning of children and adolescents with Down syndrome.

Background: Persons with Down syndrome (DS) reveal adaptive functioning (AF) difficulties. Studies on AF in DS have focused mainly on describing the profile (i.e.

Machine learning based analysis for intellectual disability in Down syndrome.

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 Structure of Working Memory and Its Relationship with Intelligence in Japanese Children.

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.

Developmental profiles of young children with autism spectrum disorder and global developmental delay: A study with the Griffiths III scales.

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.

Low discriminative power of WISC cognitive profile in developmental dyscalculia.

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.

Severe Developmental Dyscalculia Is Characterized by Core Deficits in Both Symbolic and Nonsymbolic Number Sense.

A long-standing debate concerns whether developmental dyscalculia is characterized by core deficits in processing nonsymbolic or symbolic numerical information as well as the role of domain-general difficulties. Heterogeneity in recruitment and diagnostic criteria make it difficult to disentangle this issue. Here, we selected children ( = 58) with severely compromised mathematical skills (2 below average) but average domain-general skills from a large sample referred for clinical assessment of learning disabilities.

Number estimation in Down syndrome: Cognition or experience?

Background: The ability to place numbers on a visual "number line" is a hallmark of the understanding of numerical magnitude and it is a strong predictor of mathematical achievement.

Aim: We examined whether the performance in the number line estimation task is more driven by mental age or experience with numbers in a sample of Italian children with Down syndrome (DS).

Method And Procedure: Sixty-three children with DS (M = 128.

Structure of working memory in children from 3 to 8 years old.

Several models of working memory (WM) have been proposed in the literature. Most of the research on the architecture of WM is based on adults or older children, but less is known about younger children. In this study, we tested various models of WM on a sample of 739 Italian children, ranging in age from 3 to 8 years, primarily of European heritage and from medium to medium-high socioeconomic background.

Individuals with Down Syndrome: Editorial.

Down syndrome (DS) is the most common syndromic cause of intellectual disability, so it has long been of interest to researchers [...

A reassessment of Jackson's checklist and identification of two Down syndrome sub-phenotypes.

Down syndrome (DS) is characterised by several clinical features including intellectual disability (ID) and craniofacial dysmorphisms. In 1976, Jackson and coll. identified a checklist of signs for clinical diagnosis of DS; the utility of these checklists in improving the accuracy of clinical diagnosis has been recently reaffirmed, but they have rarely been revised.

Cognitive profiles in children and adolescents with Down syndrome.

The Down syndrome (DS) phenotype is usually characterized by relative strengths in non-verbal skills and deficits in verbal processing, but high interindividual variability has been registered in the syndrome. The goal of this study was to explore the cognitive profile, considering verbal and non-verbal intelligence, of children and adolescents with DS, also taking into account interindividual variability. We particularly aimed to investigate whether this variability means that we should envisage more than one cognitive profile in this population.

Association between Exposure to Particulate Matter during Pregnancy and Multidimensional Development in School-Age Children: A Cross-Sectional Study in Italy.

Air pollutants can potentially affect the development of children. However, data on the effect of exposure to air pollution during pregnancy and developmental outcomes in school children are rare. We investigated the link between prenatal exposure to particulate matters smaller than 10 microns (PM) and the development of school-age children in multiple domains.

Is the Age of Developmental Milestones a Predictor for Future Development in Down Syndrome?

Down Syndrome (DS) is the most common genetic alteration responsible for intellectual disability, which refers to deficits in both intellectual and adaptive functioning. According to this, individuals with Down Syndrome (DS) reach developmental milestones (e.g.

Developmental Trajectories in Spatial Visualization and Mental Rotation in Individuals with Down Syndrome.

Background: The analysis of developmental trajectories of visuospatial abilities in individuals with Down Syndrome (DS) remains an unexplored field of investigation to examine in depth. The study aimed to fill such a gap by examining changes in two visuospatial abilities: spatial visualization (the ability to manage spatial stimuli) and mental rotation (the ability to rotate spatial stimuli).

Method: Eighty-seven participants with DS, aged between 7 and 53 years (forty-seven males and forty females), completed spatial visualization and mental rotation tasks.

Path Learning in Individuals With Down Syndrome: The Challenge of Learning Condition and Cognitive Abilities.

Analyzing navigational abilities and related aspects in individuals with Down syndrome (DS) is of considerable interest because of its relevance to everyday life. This study investigates path learning, the conditions favoring it, and the cognitive abilities involved. A group of 30 adults with DS and 32 typically-developing (TD) children matched on receptive vocabulary were shown a 4 × 4 Floor Matrix and asked to repeat increasingly long sequences of steps by walking on the grid.

Parent-based training of basic number skills in children with Down syndrome using an adaptive computer game.

Background: Numeracy is an area of difficulty for children with Down syndrome (DS). It has been demonstrated that The Number Race, a non-commercial adaptive computer game designed to foster basic mathematical abilities, represents a promising instrument to enhance these skills in children with DS when delivered by an expert in a clinical setting.

Aims: In the present study, we assessed the efficacy of The Number Race when administered at home by properly instructed and remotely supervised parents.

One-carbon pathway and cognitive skills in children with Down syndrome.

This work investigates the role of metabolite levels in the intellectual impairment of subjects with Down syndrome (DS). Homocysteine, folate, vitamin B12, uric acid (UA), creatinine levels and MTHFR C677T genotype were analyzed in 147 subjects with DS. For 77 subjects, metabolite levels were correlated with cognitive tests.

Training basic numerical skills in children with Down syndrome using the computerized game "The Number Race".

Individuals with Down syndrome (DS) present reduced basic numerical skills, which have a negative impact on everyday numeracy and mathematical learning. Here, we evaluated the efficacy of the adaptive (non-commercial) computerized game "The Number Race" in improving basic numerical skills in children with DS. The experimental group (EG; N = 30, M 118, range 70-149) completed a training playing with "The Number Race", whereas children in the control group (CG; N = 31, M 138, range 76-207) worked with software aiming at improving their reading skills.

Plasma metabolome and cognitive skills in Down syndrome.

Trisomy 21 (Down syndrome, DS) is the main human genetic cause of intellectual disability (ID). Lejeune hypothesized that DS could be considered a metabolic disease, and we found that subjects with DS have a specific plasma and urinary metabolomic profile. In this work we confirmed the alteration of mitochondrial metabolism in DS and also investigated if metabolite levels are related to cognitive aspects of DS.

Path Learning in Individuals With Down Syndrome: The Floor Matrix Task and the Role of Individual Visuo-Spatial Measures.

Environment learning is essential in everyday life. In individuals with Down syndrome (DS), this skill has begun to be examined using virtual exploration. Previous studies showed that individuals with DS can learn and remember paths in terms of sequences of turns and straight stretches, albeit with some difficulty, and this learning is supported by their cognitive abilities.

The Effect of Probabilistic Context on Implicit Temporal Expectations in Down Syndrome.

One of the most important sources of predictability that human beings can exploit to create an internal representation of the external environment is the ability to implicitly build up subjective statistics of events' temporal structure and, consequently, use this knowledge to prepare for future actions. Stimulus expectancy can be subjectively shaped by hierarchically nested sources of prediction, capitalizing on either local or global probabilistic rules. In order to better understand the nature of local-global proactive motor control in Down Syndrome, in the present study a group of participants with Down Syndrome (DS group; = 28; mean age 29.