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

Researchers studied how to better diagnose autism in children who have Down syndrome. They used a special questionnaire to compare children with Down syndrome only, autism only, and both conditions. They found that certain behaviours and skills help tell these groups apart. Children with both Down syndrome and autism showed different patterns in social skills, communication, play, repetitive behaviours, and sensory responses compared to children with just one condition.

This study investigated neurobehavioural patterns to improve autism spectrum disorder (ASD) diagnosis in children with Down syndrome (DS). Researchers used the validated ND-PROM questionnaire to compare developmental skills and behaviours across three groups: DS only, ASD only, and DS + ASD. Statistical analyses revealed distinct patterns in ASD-specific domains (nonverbal communication, social-emotional understanding, social interaction, independent play, repetitive behaviours, and sensory processing) and non-ASD domains (language, adaptive skills, challenging behaviours, mental health). ASD-specific symptoms best distinguished children with DS only from those with DS + ASD, while non-ASD symptoms better differentiated ASD only from DS + ASD groups.

The study identified key differentiating items that could inform diagnostic approaches.

Findings suggest need for DS-specific ASD diagnostic approaches rather than standard tools. ASD-specific behavioural domains may be key screening areas. Results could inform development of targeted assessment protocols for dual diagnosis, potentially improving diagnostic accuracy in this complex population.

Sample size not reported limits interpretation. Study type unclear. Cross-sectional design cannot establish causation. Validation of findings in larger, independent samples needed. Generalisability across age ranges and severity levels unknown.

Autism spectrum disorder (ASD) is common in Down syndrome (DS). There are no standardised screening/assessment tools for evaluating ASD in DS. 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. 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).

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.