Toward better characterization of restricted and repetitive behaviors in individuals with germline heterozygous PTEN mutations

Abstract

This study aimed to further our understanding of restricted and repetitive behaviors (RRB) among individuals with germline pathogenic mutations in PTEN by providing multimethod characterization and comparison of key RRB subdomains across individuals with PTEN mutations with autism spectrum disorder (ASD) (PTEN-ASD), with PTEN mutations without ASD (PTEN-No ASD) and with ASD and macrocephaly but without PTEN mutations (Macro-ASD). Of 86 total research participants, 38 had PTEN-ASD (Mage = 8.93 years, SDage = 4.75), 25 Macro-ASD (Mage = 11.99 years; SDage = 5.15), and 23 PTEN-No ASD (Mage = 8.94 years; SDage = 4.85). The Repetitive Behavior Scale-Revised (RBS-R) and the Autism Diagnostic Inter..