Our paper titled “Autism spectrum disorder symptom expression in individuals with 3q29 deletion syndrome” is now published in Molecular Autism! In this study, we used data from two gold-standard autism spectrum disorder (ASD) evaluations, the ADOS-2 and the ADI-R, to measure ASD-related symptoms in individuals with 3q29 deletion syndrome. We also compared the scores for individuals with 3q29 deletion syndrome to publicly available data from individuals with non-syndromic ASD and from typically developing individuals. Participants with 3q29 deletion syndrome and ASD performed similarly to individuals with non-syndromic ASD. Participants with 3q29 deletion syndrome and no ASD had significantly more social disability compared to typically developing individuals. This highlights the need for social skills interventions for individuals with 3q29 deletion syndrome and increases our understanding of the social phenotype of the 3q29 deletion.
Read the full publication here: https://pubmed.ncbi.nlm.nih.gov/36566217/