OTSLPCohortJournal of autism and developmental disorders2023

Early Social Behavior in Young Children with Sex Chromosome Trisomies (XXX, XXY, XYY): Profiles of Observed Social Interactions and Social Impairments Associated with Autism Spectrum Disorder (ASD).

Nienke Bouw, Hanna Swaab, Nicole Tartaglia and 2 others

PMID 35551591

WHAT IT FOUND

Children with extra X or Y chromosomes showed less social interaction and more independent play than peers, especially when social demands were high.

They also had elevated autism-related social impairments in daily life. These patterns appeared early and persisted after accounting for cognitive and language differences.

Key findings

01Children with sex chromosome trisomies displayed significantly less interaction behavior and more constructive independent play than controls during structured observations, with these differences most pronounced under high social load.

02Children with sex chromosome trisomies had significantly higher scores for social impairments associated with autism across all domains compared to controls, with 27.1% of the group scoring in the clinically significant range.

03The observed social interaction differences and reported social impairments remained significant after controlling for global cognitive functioning and expressive language skills, indicating these social challenges are not solely explained by lower IQ or language deficits.

STILL TO COME

How it was doneWhat they foundWhat it means for OTsWhat it means for SLPs

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What it does not show

The majority of individuals with sex chromosome trisomies remain undiagnosed, so it is unclear if these findings generalize to the undiagnosed population. The study could not determine the effect of testosterone treatment on social outcomes, although nearly half of the boys with XXY in the sample had received it. The control group was not genetically screened, though the risk of undetected trisomies was considered minimal due to low prevalence.

Declared interests

The authors declared no competing interests. The study was supported by grants from the Dutch Organization for Scientific Research and the Leiden University Medical Center.

The easy way to misread this

Do not assume that the social interaction deficits observed in these children are secondary to their lower cognitive or language scores. The study found that social impairments persisted even after controlling for IQ and expressive language, indicating a specific vulnerability in social adaptive development that requires targeted intervention.

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