Publications | July 2025
Abstract: Background: Autism spectrum disorder (ASD) is common in Down syndrome (DS). There are no standardised screening/assessment tools for evaluating ASD in DS.
Methods: We utilised a novel validated questionnaire, the ND-PROM, to investigate differences in developmental skills and behaviours among children with DS only, ASD only and DS + ASD.
Results: Data analysis using ANOVA tests and post hoc t-tests revealed item-level differences between groups in domains specific to ASD (nonverbal communication, social–emotional understanding, social interaction, independent play, restrictive and repetitive behaviours and interests and sensory processes) and not specific to ASD (expressive language, receptive language, adaptive/toileting, challenging behaviours, mental health and impulse/ADHD).
Conclusion: ASD-specific symptoms best distinguished DS only and DS + ASD groups, while non-ASD symptoms best distinguished ASD only and DS + ASD groups. Items that best differentiate groups are presented.
Published: July 15, 2025
Publication: Journal of Intellectual Disability Research
CLI Author: Gabriel Anzueto, MD
Citation: Patel, Lina R., O’Neill, M., Anzueto, G., Olsen, D., Pawlowski, K., Santoro, Jonathan D., Sideridis, G., Spinazzi, N., and Baumer, Nicole T. (2025) Neurobehavioural Patterns in the Diagnosis of Autism Spectrum Disorder in Down Syndrome. Journal of Intellectual Disability Research, 69: 809–821. https://doi.org/10.1111/jir.70015