Brief Report: Role of Parent-Reported Executive Functioning and Anxiety in Insistence on Sameness in Individuals with Germline PTEN Mutations

Mirko Uljarević; Thomas W Frazier; Gaëlle Rached; Robyn M Busch; Patricia Klaas; Siddharth Srivastava; Julian A Martinez-Agosto; Mustafa Sahin; Charis Eng; Antonio Y Hardan; Developmental Synaptopathies Consortium

doi:10.1007/s10803-021-04881-5

Brief Report: Role of Parent-Reported Executive Functioning and Anxiety in Insistence on Sameness in Individuals with Germline PTEN Mutations

J Autism Dev Disord. 2022 Jan;52(1):414-422. doi: 10.1007/s10803-021-04881-5. Epub 2021 Feb 17.

Authors

Affiliations

¹ Faculty of Medicine, Dentistry, and Health Sciences, Melbourne School of Psychological Sciences, The University of Melbourne, Victoria, Australia. mirko.uljarevic@unimelb.edu.au.
² La Trobe University, Bundoora, VIC, 3086, Australia. mirko.uljarevic@unimelb.edu.au.
³ Department of Psychology, John Carroll University, University Heights, OH, USA.
⁴ Université Saint Joseph, Beirut, Lebanon.
⁵ Department of Neurology, Neurological Institute, Cleveland Clinic, Cleveland, OH, 44195, USA.
⁶ Genomic Medicine Institute, Lerner Research Institute, Cleveland Clinic, Cleveland, OH, 44195, USA.
⁷ Translational Neuroscience Center, Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, 02115, USA.
⁸ Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, CA, USA.
⁹ Division of Medical Genetics, Department of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, CA, USA.
¹⁰ Department of Psychiatry and Behavioral Sciences, Stanford University, Stanford, CA, USA.

Abstract

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; M_age = 8.93 years, SD_age = 4.75), 23 with PTEN mutation without ASD (PTEN-no ASD; M_age = 8.94 years; SD_age = 4.85) and 25 with ASD and macrocephaly but with no PTEN mutation (Macro-ASD; M_age = 11.99 years; SD_age = 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.

Keywords: Anxiety; Executive functioning; Insistence on sameness; Macrocephaly; PTEN.

MeSH terms

Anxiety / genetics
Autism Spectrum Disorder* / genetics
Child
Child, Preschool
Germ Cells
Germ-Line Mutation*
Humans
PTEN Phosphohydrolase / genetics
Parents

Substances

PTEN Phosphohydrolase
PTEN protein, human

Abstract

MeSH terms

Substances

Grants and funding