Gaia Scaccabarozzi

Background/Objectives: Beyond the core characteristics of the condition, autistic individuals often significantly struggle with postural balance. This pilot study aimed to investigate the effects of an immersive virtual reality-based training administered with Gait Real-time Analysis Interactive Lab (GRAIL) on postural balance of autistic children. Methods: A total of 20 autistic participants aged 6 to 13 were enrolled in a 5-week randomized, parallel-group, open-label, controlled trial, and received either balance training with the GRAIL system or no training. The trial was registered at ClinicalTrials.gov (identifier: NCT04276571). The primary outcome measures were the change in center of pressure (CoP) metrics during GRAIL balance assessments and the change in motor skills as assessed with Movement Assessment Battery for Children-2. Secondary outcome measures included parent-report Developmental Coordination Disorder Questionnaire, center of mass metrics, and gait parameters evaluated with GRAIL. ANCOVA tests were performed for all outcomes, with time (T0 and T1) as within-subjects factor, the group (training and control groups) as between-subjects factor, and considering age as covariate. Results: Slight but significant time by group interactions were found in some CoP metrics (i.e., sway path length, velocity in the antero-posterior direction, and the jerk). Conclusions: These findings preliminarily suggest that a virtual reality-based training may induce slight modifications in postural balance strategies, which can be enhanced with longer or more intensive training.

Understanding the functional implications of genes' variants in autism heterogeneity is challenging. Gene set analysis examines the cumulative effect of multiple functionally converging genes. Here we explored whether a multi‐step analysis could identify gene sets with different loads of protein‐altering variants (PAVs) between two subgroups of autistic children. After subdividing our sample ( n = 71, 3–12 years) based on higher (> 80; n = 43) and lower ( 80; n = 28) intelligence quotient (IQ), a gene set variant enrichment analysis identified gene sets with significantly different incidence of PAVs between the two subgroups of autistic children. Significant gene sets were then clustered into modules of genes. Their brain expression was investigated according to the BrainSpan Atlas of the Developing Human Brain. Next, we extended each module by selecting the genes that were spatio‐temporally co‐expressed in the developing brain and physically interacting with those in modules. Last, we explored the incidence of autism susceptibility genes within original and extended modules. Our analysis identified 38 significant gene sets (FDR, q < 0.05). They clustered in four modules involved in ion cell communication, neurocognition, gastrointestinal function, and immune system. Those modules were highly expressed in specific brain structures across development. Spatio‐temporal brain co‐expression and physical interactions identified extended genes' clusters with over‐represented autism susceptibility genes. Overall, our unbiased approach identified modules of genes functionally relevant to autism pathophysiology, possibly implicating them in phenotypic variability across subgroups. The findings also suggest that autism diversity likely originates from multiple interacting pathways. Future research could leverage this approach to identify genetic pathways relevant to autism subtyping.

Motor behavior alterations are common in neurodevelopmental disorders (NDDs), including autism, developmental coordination disorder (DCD), and attention deficit hyperactivity disorder (ADHD), but the extent of motor impairment remains unclear. In autism and ADHD, motor difficulties may be linked to co-occurring DCD, which often goes unrecognized. We aimed to map the prevalence of DCD in autism and ADHD, and to explore motor skill difficulties using the Movement Assessment Battery for Children-2 (MABC-2), by comparing children with typical motor development (TMD) with those who have NDDs, and by identifying specific profiles among NDDs. A combined sample of participants (n = 215), including autistic children with(out) intellectual disability (ID) and children with ADHD, DCD, and TMD, performed the MABC-2. Depending on co-occurring DCD/ID, subgroups were composed: autism-only (n = 17), autism + ID (n = 17), autism + DCD (n = 40), ADHD-only (n = 14), ADHD + DCD (n = 12), DCD (n = 25), and TMD (n = 59). MABC-2 differences between TMD/NDDs (Mann–Whitney U test) and among NDDs (Kruskal–Wallis test) were assessed. DCD occurred in 70.2% of the autistic children without ID and in 46.2% of those with ADHD. Children with NDDs performed significantly worse than the TMD (p < 0.001). Manual dexterity skills, aiming and catching, and balance were significantly different across the NDD subgroups (p ≤ 0.001). Particularly children with ( +)DCD and autism + ID performed worse on manual dexterity skills. Children with ( +)DCD were outperformed on aiming and catching. All subgroups, except the ADHD-only group, performed poorly on balance. Conclusion: Distinct motor difficulties were identified across various NDDs. Children with co-occurring ID or DCD exhibit unique challenges, stressing the importance of motor profile subgrouping. What Is Known: • Despite the common occurrence of motor behavior in neurodevelopmental disorders, the extent of motor impairment remains unclear. • Motor difficulties in autism and ADHD may be linked to co-occurring DCD, which often goes unrecognized. What Is New: • DCD occurred in 70% of the autistic children without ID and in 46% of those with ADHD. • Children with co-occurring ID or DCD exhibit unique challenges, stressing the importance of motor profile subgrouping.