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Neurobehavioural Patterns in the Diagnosis of Autism Spectrum Disorder in Down Syndrome

Lina R Patel¹, Meghan O'Neill², Gabriel Anzueto³

¹Department of Psychiatry, Children's Hospital Colorado, Aurora, Colorado, USA.

Journal of Intellectual Disability Research : JIDR

|July 15, 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.

Keywords:

Down syndrome and autism autism diagnosis neurobehavioural patterns

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