Age-Related Trajectories of Autistic Traits in Children With Angelman Syndrome.
Doesjka A Hagenaar, Sabine E Mous, Leontine W Ten Hoopen and 10 others
PMID 40116126WHAT IT FOUND
Autistic traits and sensory issues in Angelman syndrome remain stable from childhood through adolescence, but do not necessarily indicate ASD.
Deletion genotypes show more traits than other types. Clinicians should interpret ADOS scores cautiously, as severe intellectual disability often drives these behaviors.
Key findings
01Overall, autistic traits and sensory processing problems did not change significantly with age, remaining stable throughout childhood and adolescence.
02Children with the deletion genotype exhibited significantly higher levels of autistic traits on both observational and parent-report measures compared to those with UPD/ICD or UBE3A mutation genotypes.
03There is a discrepancy between automated ADOS classifications and clinical diagnoses: while 76% of participants scored in the ASD range on the ADOS, only 16% received a clinician-derived DSM diagnosis of ASD.
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 assessment tools (ADOS, SRS, SSP) were not specifically designed for or validated in children with the severe developmental delays typical of Angelman syndrome, which may affect reliability and validity. Different versions of the SRS were used over the long data collection period (2011-2023), which significantly influenced scores, although researchers adjusted for this in the analysis. The study was only partially longitudinal; 58 children had only one assessment, and those who returned for follow-ups had higher baseline autistic traits, suggesting a selection bias where families with more behavioral concerns were more likely to continue. Race data was not collected, limiting generalizability across ethnic groups. The 'low energy/weak' subscale of the sensory profile may reflect motor problems associated with AS rather than purely sensory processing issues.
Declared interests
The authors declared no conflicts of interest. The study was supported by non-U.S. government funding.
The easy way to misread this
Do not diagnose ASD in Angelman syndrome based solely on a high ADOS score. The study found that while 76% of children scored in the ASD range on the ADOS, only 16% received a clinical ASD diagnosis, as clinicians attributed the behaviors to severe intellectual disability rather than autism. The ADOS may overestimate autistic traits in this population.