Brief Report: Associations Between Self-injurious Behaviors and Abdominal Pain Among Individuals with ASD-Associated Dis

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BRIEF REPORT

Brief Report: Associations Between Self‑injurious Behaviors and Abdominal Pain Among Individuals with ASD‑Associated Disruptive Mutations Evangeline C. Kurtz‑Nelson1 · See Wan Tham2,3 · Kaitlyn Ahlers1 · Daniel Cho4 · Arianne S. Wallace1 · Evan E. Eichler5,6 · Raphael A. Bernier1 · Rachel K. Earl1 Accepted: 27 October 2020 © Springer Science+Business Media, LLC, part of Springer Nature 2020

Abstract Self-injurious behaviors (SIB) are elevated in autism spectrum disorder (ASD) and related genetic disorders, but the genetic and biological mechanisms that contribute to SIB in ASD are poorly understood. This study examined rates and predictors of SIB in 112 individuals with disruptive mutations to ASD-risk genes. Current SIB were reported in 30% of participants and associated with poorer cognitive and adaptive skills. History of severe abdominal pain predicted higher rates of SIB and SIB severity after controlling for age and adaptive behavior; individuals with a history of severe abdominal pain were eight times more likely to exhibit SIB than those with no history. Future research is needed to examine associations between genetic risk, pain, and SIB in this population. Keywords  Autism spectrum disorder · Intellectual disability · Rare genetic disorders · Self-injurious behavior · Abdominal pain

Introduction Self-injurious behaviors (SIB), defined as self-directed behaviors with the potential to cause tissue damage, are clinically concerning for individuals with autism spectrum disorder (ASD) and for their caregivers and providers (Minshawi et al. 2015; Oliver and Richards 2015). SIB prevalence Electronic supplementary material  The online version of this article (https​://doi.org/10.1007/s1080​3-020-04774​-z) contains supplementary material, which is available to authorized users. * Rachel K. Earl [email protected] 1



Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, Washington, USA

2



Department of Anesthesiology and Pain Medicine, University of Washington, Seattle, Washington, USA

3

Seattle Children’s Research Institute, Seattle, Washington, USA

4

Seattle Children’s Autism Center, Seattle, Washington, USA

5

Department of Genome Sciences, University of Washington, Seattle, Washington, USA

6

Howard Hughes Medical Institute, Seattle, Washington, USA



is elevated in ASD as compared to other developmental disabilities, and population-based prevalence of SIB among children with ASD in the United States has been estimated at 28% (McClintock et al. 2003; Soke et al. 2016). SIB in ASD are associated with key negative outcomes, including significant functional impairment, restricted access to community settings, caregiver stress, higher health care utilization, and increased risk of life-threatening injury (Gulsrud et al. 2018; Kalb et al. 2012; Minshawi et al. 2015; Rattaz et al. 2015). SIB often persist over time, and well-established SIB may be more resistant to treatment (Minshawi et al. 2015; Oliver and Richards 2015). While interventions to prevent SIB hav