The pathophysiology of restricted repetitive behavior
Open Access
- 16 June 2009
- journal article
- research article
- Published by Springer Science and Business Media LLC in Journal of Neurodevelopmental Disorders
- Vol. 1 (2), 114-132
- https://doi.org/10.1007/s11689-009-9019-6
Abstract
Restricted, repetitive behaviors (RRBs) are heterogeneous ranging from stereotypic body movements to rituals to restricted interests. RRBs are most strongly associated with autism but occur in a number of other clinical disorders as well as in typical development. There does not seem to be a category of RRB that is unique or specific to autism and RRB does not seem to be robustly correlated with specific cognitive, sensory or motor abnormalities in autism. Despite its clinical significance, little is known about the pathophysiology of RRB. Both clinical and animal models studies link repetitive behaviors to genetic mutations and a number of specific genetic syndromes have RRBs as part of the clinical phenotype. Genetic risk factors may interact with experiential factors resulting in the extremes in repetitive behavior phenotypic expression that characterize autism. Few studies of individuals with autism have correlated MRI findings and RRBs and no attempt has been made to associate RRB and post-mortem tissue findings. Available clinical and animal models data indicate functional and structural alterations in cortical-basal ganglia circuitry in the expression of RRB, however. Our own studies point to reduced activity of the indirect basal ganglia pathway being associated with high levels of repetitive behavior in an animal model. These findings, if generalizable, suggest specific therapeutic targets. These, and perhaps other, perturbations to cortical basal ganglia circuitry are mediated by specific molecular mechanisms (e.g., altered gene expression) that result in long-term, experience-dependent neuroadaptations that initiate and maintain repetitive behavior. A great deal more research is needed to uncover such mechanisms. Work in areas such as substance abuse, OCD, Tourette syndrome, Parkinson’s disease, and dementias promise to provide findings critical for identifying neurobiological mechanisms relevant to RRB in autism. Moreover, basic research in areas such as birdsong, habit formation, and procedural learning may provide additional, much needed clues. Understanding the pathophysioloy of repetitive behavior will be critical to identifying novel therapeutic targets and strategies for individuals with autism.Keywords
This publication has 242 references indexed in Scilit:
- Social approach and repetitive behavior in eleven inbred mouse strainsBehavioural Brain Research, 2008
- Age-Related Differences in Restricted Repetitive Behaviors in Autism Spectrum DisordersJournal of Autism and Developmental Disorders, 2008
- Development of a mouse test for repetitive, restricted behaviors: Relevance to autismBehavioural Brain Research, 2008
- Repetitive and Stereotyped Behaviors in Children with Autism Spectrum Disorders in the Second Year of LifeJournal of Autism and Developmental Disorders, 2008
- The Neural Circuitry Mediating Shifts in Behavioral Response and Cognitive Set in AutismBiological Psychiatry, 2007
- Investigation of autism and GABA receptor subunit genes in multiple ethnic groupsneurogenetics, 2006
- Frontal white matter reductions in healthy males with complex stereotypiesPediatric Neurology, 2005
- Prader-Willi syndromeEuropean Child & Adolescent Psychiatry, 2004
- Postural control in children with autismJournal of Autism and Developmental Disorders, 1992
- Motor imitation abilities and neurological signs in autistic childrenJournal of Autism and Developmental Disorders, 1985