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.

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.

Down Syndrome: how to communicate the diagnosis.

Communicating the diagnosis of Down Syndrome to a couple of parents is never easy, whether before or after birth. As doctors, we must certainly rely on our own relational skills, but it is also necessary to be confident in some general indications, which are often overlooked in the strict hospital routine. This article is intended as a summary of the main articles published on this subject in the international literature, collecting and summarising the most important indications that have emerged in years of medical practice all over the world as well as in our personal experience.

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.

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.

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.

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.

Intellectual profile in school-aged children with borderline intellectual functioning.

Background: Little is currently known about borderline intellectual functioning (BIF), a condition characterized by an intelligence quotient between one and two standard deviations below the average, that affects about 14% of the population.

Aims: The present study aimed to analyze the intellectual profile of school-aged children with BIF.

Method And Procedure: The WISC-IV was administered to 204 children with BIF attending Italian primary and lower secondary school, and their profile was compared with that of a control group of typically developing (TD) children.

Training spatial-simultaneous working memory in individuals with Down syndrome.

Recent studies have suggested that the spatial-simultaneous component of working memory (WM), which is involved when stimuli are presented simultaneously, is selectively impaired in individuals with Down syndrome (DS). The main objective of the present study was to examine whether WM performance can be enhanced in individuals with DS by analyzing the immediate and maintenance effects of a training program. For this purpose, 61 individuals with DS were randomly assigned to three groups: one trained on simultaneous components of visuospatial WM; one serving as an active control group, that completed activities on vocabulary; and one serving as a passive control group, that only attended the pre- and post-test and follow-up assessments.

Improving spatial-simultaneous working memory in Down syndrome: effect of a training program led by parents instead of an expert.

Recent studies have suggested that the visuospatial component of working memory (WM) is selectively impaired in individuals with Down syndrome (DS), the deficit relating specifically to the spatial-simultaneous component, which is involved when stimuli are presented simultaneously. The present study aimed to analyze the effects of a computer-based program for training the spatial-simultaneous component of WM in terms of: specific effects (on spatial-simultaneous WM tasks); near and far transfer effects (on spatial-sequential and visuospatial abilities, and everyday memory tasks); and maintenance effects (1 month after the training). A comparison was drawn between the results obtained when the training was led by parents at home as opposed to an expert in psychology.