Autism needs to be considered in children with Down Syndrome

Area of Science:

• Neurodevelopmental disorders
• Genetics and developmental disorders

Background:

• Down syndrome (DS) is a genetic disorder associated with developmental delays.
• Autism spectrum disorder (ASD) is a neurodevelopmental condition characterized by social and communication challenges.
• The co-occurrence of DS and ASD requires further investigation, particularly in individuals with severe intellectual disability (ID).

Purpose of the Study:

• To analyze autism symptom levels and profiles in children with Down syndrome (DS) with and without diagnosed autism spectrum disorder (ASD).
• To specifically examine these profiles in children with DS and severe intellectual disability (ID).

Main Methods:

• A population-based cohort of 60 children with DS (ages 5-17) was studied, with 41 participating.
• Autism Diagnostic Observation Schedule (ADOS) Module-1 scores were compared between children with and without diagnosed ASD.
• Children with DS and ASD were compared to a cohort of children with idiopathic ASD.

Main Results:

• Children with DS and ASD exhibited significantly higher ADOS scores across all domains compared to those with DS but without ASD.
• This difference persisted even when the analysis was restricted to children with severe ID.
• The ADOS profiles of children with DS and ASD were similar to those with idiopathic ASD.

Conclusions:

• A substantial proportion of children with DS also have ASD.
• A distinct group of children with DS and severe ID without autism also exists.
• Enhanced awareness of the high prevalence of ASD in children with DS is essential for providing appropriate care and interventions.