Brief Report: Role of Parent-Reported Executive Functioning and Anxiety in Insistence on Sameness in Individuals with Germline PTEN Mutations. Journal of autism and developmental disorders Uljarevic, M., Frazier, T. W., Rached, G., Busch, R. M., Klaas, P., Srivastava, S., Martinez-Agosto, J. A., Sahin, M., Eng, C., Hardan, A. Y., Developmental Synaptopathies Consortium 2021


This study aimed to characterize the relationship between insistence on sameness (IS), executive functioning (EF) and anxiety among individuals with PTEN mutations and individuals with macrocephalic ASD. The sample included 38 individuals with PTEN mutation and ASD diagnosis (PTEN-ASD; Mage=8.93years, SDage=4.75), 23 with PTENmutationwithout ASD (PTEN-no ASD; Mage=8.94years; SDage=4.85) and 25 with ASD and macrocephaly but with noPTENmutation (Macro-ASD; Mage=11.99years; SDage=5.15). The final model accounted for 45.7% of variance in IS, with Set-Shifting EF subdomain as a unique independent predictor (t=4.12, p<0.001). This investigation provides the first preliminary evidence for the EF-anxiety-IS interrelationship in individuals with PTEN mutations and with macrocephalic ASD.

View details for DOI 10.1007/s10803-021-04881-5

View details for PubMedID 33595755