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 = 8.93 years, SDage = 4.75), 23 with PTEN mutation without ASD (PTEN-no ASD; Mage = 8.94 years; SDage = 4.85) and 25 with ASD and macrocephaly but with no PTEN mutation (Macro-ASD; Mage = 11.99 years; 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.
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We are sincerely indebted to the generosity of the families and patients in PTEN clinics across the United States who contributed their time and effort to this study. We would also like to thank the PTEN Hamartoma Syndrome Foundation and the PTEN Research Foundation for their continued support in PTEN research. CE is the Sondra J. and Stephen R. Hardis Endowed Chair of Cancer Genomic Medicine at the Cleveland Clinic and an ACS Clinical Research Professor. MS is the Rosamund Stone Zander Chair at Boston Children’s Hospital. MU is currently supported by the Discovery Early Career Researcher Award from the Australian Research Council (DE180100632). Other members supporting Project include: Simon K. Warfield, PhD (Department of Radiology, Boston Children’s Hospital, Boston, MA); Benoit Scherrer, PhD (Department of Radiology, Boston Children’s Hospital, Boston, MA); Kira Dies, ScM, CGC (Department of Neurology, Boston Children’s Hospital, Boston, MA); Rajna Filip-Dhima, MS (Department of Neurology, Boston Children’s Hospital, Boston, MA); Amanda Gulsrud, PhD (UCLA Semel Institute for Neuroscience & Human Behavior, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA); Ellen Hanson, PhD (Department of Developmental Medicine, Boston Children’s Hospital, Boston, MA); Jennifer M. Phillips, PhD (Department of Psychiatry, Stanford University, Stanford CA).
This study was funded, in part, by the National Institute of Health Developmental Synaptopathies Consortium (U54NS092090; PI/Network Director: Sahin; Project 2 Leaders/PIs: Eng & Busch) and the Ambrose Monell Foundation (to CE). The Developmental Synaptopathies Consortium (U54NS092090) is part of the Rare Diseases Clinical Research Network (RDCRN), an initiative of the Office of Rare Diseases Research (ORDR), National Center for Advancing Translational Sciences (NCATS). The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health (NIH).
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All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.
Informed consent was obtained from all individual participants included in the study.
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Uljarević, M., Frazier, T.W., Rached, G. et al. Brief Report: Role of Parent-Reported Executive Functioning and Anxiety in Insistence on Sameness in Individuals with Germline PTEN Mutations. J Autism Dev Disord (2021). https://doi.org/10.1007/s10803-021-04881-5
- Insistence on sameness
- Executive functioning