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., sitting, walking, and babbling) in the same order as their typically developing peers, but later in life. Since developmental milestones are the first blocks on which development builds, the aims of the current study are to: (i) expand the knowledge of developmental milestone acquisition; and (ii) explore the relationship between developmental milestone acquisition and later development. For this purpose 105 children/adolescents with DS were involved in this study, divided in two groups, Preschoolers (n = 39) and School-age participants (n = 66). Information on the age of acquisition of Sitting, Walking, Babbling, and Sphincter Control was collected, together with cognitive, motor, and adaptive functioning. Sitting predicted later motor development, but, with age, it became less important in predicting motor development in everyday life. Babbling predicted later language development in older children. Finally, Sphincter Control emerged as the strongest predictor of motor, cognitive, language, and adaptive skills, with its role being more evident with increasing age. Our data suggest that the age of reaching the milestones considered in the study has an influence on successive development, a role that can be due to common neural substrates, the environment, and the developmental cascade effect.

Background: Previous research has explored executive functions (EFs) and adaptive behaviour in children and adolescents with Down syndrome (DS), but there is a paucity of research on the relationship between the two in this population. This study aims to shed light on the profile of EFs and adaptive behaviour in DS, exploring the differences by age and investigating the relationship between these two domains.Method: Parents/caregivers of 100 individuals with DS from 3 to 16 years old participated in the study. The sample was divided into preschoolers (3–6.11 years old) and school‐age children (7–16 years old). Parents/caregivers completed either the Preschool Version of the Behaviour Rating Inventory of Executive Function (for children 2–6.11 years old) or the Second Edition of the same Inventory (for individuals 7 + years old). Adaptive behaviour was assessed with the Vineland Adaptive Behaviour Scale – Interview, Second Edition.Results: Findings suggest that individuals with DS have overall difficulties, but also patterns of strength and weakness in their EFs and adaptive behaviour. The preschool‐age and school‐age children's EF profiles differed slightly. While both age groups showed Emotional Control as a relative strength and Working Memory as a weakness, the school‐age group revealed further weaknesses in Shift and Plan/Organise. As concerns adaptive behaviour, the profiles were similar in the two age groups, with Socialisation as a strength, and Communication and Daily Living Skills as weaknesses, but with a tendency for preschoolers to obtain intermediate scores for the latter. When the relationship between EFs and adaptive behaviour was explored, Working Memory predicted Communication in the younger group, while in the older group the predictors varied, depending on the adaptive domains: Working Memory was a predictor of Communication, Inhibit of Daily Living Skills, and Inhibit and Shift of Socialisation.Conclusion: As well as elucidating the EF profiles and adaptive behaviour in individuals with DS by age, this study points to the role of EFs in adaptive functioning, providing important information for targeted interventions.

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. In the present study, we assessed the efficacy of The Number Race when administered at home by properly instructed and remotely supervised parents. Basic numerical skills were assessed before and after training, as well as at three-months follow-up. Performance of children with DS who worked at home with the parent (PG) was compared with that of children who received the training by an expert (EG). For both groups, the training lasted ten weeks, with two weekly sessions of 20-30 min. Results show that both groups improved across various measures of numerical proficiency, including the overall score of the numeracy assessment battery, while only the EG showed an improvement in a measure of mental calculation. The improvements were maintained three months after the end of the training. These findings confirm the efficacy of The Number Race and extend it to an home-based setting, whereby parents administer the training with external supervision.

Background: Understanding the timing of developmental milestones in typical and clinical populations facilitates intervention planning and the early detection of risk for co‐occurring conditions. Normative timing of developmental milestone achievement has been established for typically developing children. However, there is little information regarding the timing of cognitive and communication skill acquisition in young children with Down syndrome (DS). The objectives of this study are to (1) provide foundational information regarding the timing of cognitive and communication skill acquisition in infants with DS and (2) facilitate the early identification of infants with risk for co‐occurring conditions.Method: Seventy‐four infants with DS (age range: 4–18 months) completed the Bayley Scales of Infant Development‐III (Bayley 2006). Individual items from the cognitive and communication scales were selected for analysis. Parents provided information regarding their infant's developmental and family history.Results: The percentage of infants who attained each skill was calculated within 2‐month age bands. For infants who did not show skill acquisition within each age band, the rates of prematurity, heart defects, corrective heart surgery and significant illness were calculated as well.Conclusions: This study provides foundational information that can contribute to the formulation of a developmental schedule for cognitive and language milestone acquisition in infants with DS.

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.