Repetitive behavior profiles: Consistency across autism spectrum disorder cohorts and divergence from Prader–Willi syndrome

Abstract

Restricted and repetitive behavior (RRB) is a group of heterogeneous maladaptive behaviors. RRB is one of the key diagnostic features of autism spectrum disorders (ASDs) and also commonly observed in Prader–Willi syndrome (PWS). In this study, we assessed RRB using the Repetitive Behavior Scale-Revised (RBS-R) in two ASD samples (University of Illinois at Chicago [UIC] and University of Florida [UF]) and one PWS sample. We compared the RBS-R item endorsements across three ASD cohorts (UIC, UF and an ASD sample from Lam, The Repetitive Behavior Scale-Revised: independent validation and the effect of subject variables, PhD thesis, 2004), and a PWS sample. We also compared the mean RBS-R subscale/sum scores across the UIC, UF and PWS samples; across the combined ASD (UIC + UF), PWS-deletion and PWS-disomy groups; and across the combined ASD sample, PWS subgroup with a Social Communication Questionnaire (SCQ) score ≥15, and PWS subgroup with a SCQ score <15. Despite the highly heterogeneous nature, the three ASD samples (UIC, UF and Lam’s) showed a similar pattern of the RBS-R endorsements, and the mean RBS-R scores were not different between the UIC and UF samples. However, higher RRB was noted in the ASD sample compared with the PWS sample, as well as in the PWS subgroup with a SCQ score ≥15 compared with the PWS subgroup with a SCQ score <15. Study limitations include a small sample size, a wide age range of our participants, and not controlling for potential covariates. A future replication study using a larger sample and further investigation into the genetic bases of overlapping ASD and RRB phenomenology are needed, given the higher RRB in the PWS subgroup with a SCQ score ≥15.

Oxytocin and vasopressin systems in genetic syndromes and neurodevelopmental disorders

“…For example, as in ASD, individuals with PWS have difficulty with social competence (Dimitropoulos et al, 2013), are aloof and avoid eye contact (Dimitropoulos et al, 2009). Furthermore, RRB is also evidenced in PWS (Greaves et al, 2006), although to a lesser degree than in ASD as measured by the Repetitive Behavior Scale-Revised (RBS-R; Flores et al, 2011). A subset of the genetic region associated with PWS is also associated with an increased risk for ASD, as maternally inherited duplications of the 15q11–13 region are associated with 1–3% of ASD cases (Bolton et al, 2001; Cook et al, 1997; Vorstman et al, 2006).…”

Behavioral signatures related to genetic disorders in autism

“…Support vector machine (SVM) learning was used to analyze ‘signatures’ of autistic symptomatology in six genetic developmental disorders associated with an increased risk for ASD [17-20]. Based on the premise that other risk factors which dysregulate the same pathways may give rise to similar ‘signature’ patterns of behavior, we aimed to apply the SVM algorithms derived from genetic disorders to cases of idiopathic ASD.…”

Comparison of Aberrant Behavior Checklist profiles across Prader–Willi syndrome, Down syndrome, and autism spectrum disorder

“…In PWS, overlapping symptoms with ASD include repetitive behaviors, need for symmetry or exactness, need for sameness, verbal perseveration, poor peer relations, and anxiety (Dykens, Lee, & Roof, ). Given the high prevalence of repetitive behaviors in PWS, Flores et al reported decreased frequency and intensity of repetitive behaviors in PWS compared to those in ASD, as rated on the Repetitive Behavior Scale‐Revised (RBS‐R) (Bodfish, Symons, & Lewis, ; Flores et al, ; Lam & Aman, ). The same study also examined the RBS‐R subscale scores across three groups: PWS with a lower SCQ total score (≤14) versus PWS with a higher SCQ total score (≥15) versus ASD (Flores et al, ).…”

“…The SCH data were collected as part of clinical information obtained during clinic visits at the SCH PWS clinic between October 2014 and July 2016. The UF‐PWS cohort was recruited from another UF study and through word of mouth as described in a previous report (Flores et al, ). The DS data were collected from patients seen at Kennedy Krieger Institute DS Clinic for routine clinical care from 1992 to 2008 as described in previous reports (Ji et al, ).…”

“…ASD (without known genetic syndrome) cohort was also from UF. The ASD UF cohort included children between 6 and 18 years old with a clinical diagnosis of ASD and absence of a genetic diagnosis recruited from a mail survey study (Flores et al, ). The data collection was approved by the Institutional Review Boards of SCH, UF, and Johns Hopkins.…”