Restricted repetitive behaviors: Connections between autism spectrum and obsessive-compulsive spectrum disorders.

Francis, Sunday M.; Kim, Soo-Jeong; Jacob, Suma

doi:10.1037/14323-014

Cited by 2 publications

(2 citation statements)

References 109 publications

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“…Therefore, potential common underlying brain network abnormalities are more difficult to detect ( Langen et al, 2011 ). Nonetheless, associations with underlying structural and functional brain abnormalities have been described ( Lewis and Kim, 2009 ; Muehlmann and Lewis, 2012 ; Gao and Singer, 2013 ; Francis et al, 2014 ; Péter et al, 2017 ; Martino and Hedderly, 2019 ; Keller et al, 2021 ; Ganos et al, 2022 ), most consistently an involvement of basal ganglia structures and sensitivity to changes in dopaminergic tone. For example, motor stereotypies can be induced pharmacologically in animal models by dopamine receptor agonists or drugs that increase synaptic dopamine ( Péter et al, 2017 ), and vascular lesions in different basal ganglia structures can provoke repetitive phenomena ( Benke et al, 2000 ; Langen et al, 2011 ; Péter et al, 2017 ; Ganos et al, 2022 ).…”

Section: Repetitive Behaviors and Basal Ganglia Functionmentioning

confidence: 99%

Repeating patterns: Predictive processing suggests an aesthetic learning role of the basal ganglia in repetitive stereotyped behaviors

et al. 2022

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Recurrent, unvarying, and seemingly purposeless patterns of action and cognition are part of normal development, but also feature prominently in several neuropsychiatric conditions. Repetitive stereotyped behaviors (RSBs) can be viewed as exaggerated forms of learned habits and frequently correlate with alterations in motor, limbic, and associative basal ganglia circuits. However, it is still unclear how altered basal ganglia feedback signals actually relate to the phenomenological variability of RSBs. Why do behaviorally overlapping phenomena sometimes require different treatment approaches−for example, sensory shielding strategies versus exposure therapy for autism and obsessive-compulsive disorder, respectively? Certain clues may be found in recent models of basal ganglia function that extend well beyond action selection and motivational control, and have implications for sensorimotor integration, prediction, learning under uncertainty, as well as aesthetic learning. In this paper, we systematically compare three exemplary conditions with basal ganglia involvement, obsessive-compulsive disorder, Parkinson’s disease, and autism spectrum conditions, to gain a new understanding of RSBs. We integrate clinical observations and neuroanatomical and neurophysiological alterations with accounts employing the predictive processing framework. Based on this review, we suggest that basal ganglia feedback plays a central role in preconditioning cortical networks to anticipate self-generated, movement-related perception. In this way, basal ganglia feedback appears ideally situated to adjust the salience of sensory signals through precision weighting of (external) new sensory information, relative to the precision of (internal) predictions based on prior generated models. Accordingly, behavioral policies may preferentially rely on new data versus existing knowledge, in a spectrum spanning between novelty and stability. RSBs may then represent compensatory or reactive responses, respectively, at the opposite ends of this spectrum. This view places an important role of aesthetic learning on basal ganglia feedback, may account for observed changes in creativity and aesthetic experience in basal ganglia disorders, is empirically testable, and may inform creative art therapies in conditions characterized by stereotyped behaviors.

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Section: Repetitive Behaviors and Basal Ganglia Functionmentioning

confidence: 99%

Repeating patterns: Predictive processing suggests an aesthetic learning role of the basal ganglia in repetitive stereotyped behaviors

et al. 2022

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“…Animal studies have also suggested that cognitive rigidity may be a RRB-like subphenotype related to OXT and ASD (Sala et al, 2011 ). Restricted/repetitive behaviors have a range of features including compulsions, ritualistic/sameness, restricted, stereotyped, and self-injurious behaviors that may be influenced by OT or AVP pathways (for review see Francis et al, 2014a ). Although, most research has focused on the receptor genes, a few studies have suggested that SNPs in OXT and AVP are associated with RRBs.…”

Section: Introductionmentioning

confidence: 99%

Variants in Adjacent Oxytocin/Vasopressin Gene Region and Associations with ASD Diagnosis and Other Autism Related Endophenotypes

Francis

Kistner-Griffin

Yan³

et al. 2016

Front. Neurosci.

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Background: There has been increasing interest in oxytocin (peptide: OT, gene: OXT) as a treatment pathway for neurodevelopmental disorders such as Autism Spectrum Disorder (ASD). Neurodevelopmental disorders affect functional, social, and intellectual abilities. With advances in molecular biology, research has connected multiple gene regions to the clinical presentation of ASD. Studies have also shown that the neuropeptide hormones OT and arginine vasopressin (AVP) influence mammalian social and territorial behaviors and may have treatment potential for neurodevelopmental disorders. Published data examining molecular and phenotypic variation in ASD, such as cognitive abilities, are limited. Since most studies have focused on the receptors in the OT-AVP system, we investigated genetic variation within peptide genes for association with phenotypic ASD features that help identify subgroups within the spectrum.Methods: In this study, TDT analysis was carried out utilizing FBAT in 207 probands (156 trios) and a European Ancestry (EA) subsample (108 trios).The evolutionarily related and adjacent genes of OXT and AVP were studied for associations between the tagged single nucleotide polymorphisms and ASD diagnosis, social abilities, restrictive and repetitive behaviors, and IQ for cognitive abilities. Additionally, relationships with whole blood serotonin (WB5HT) were explored because of the developmental relationships connecting plasma levels of OT and WB5HT within ASD.Results: Results indicate significant association between OXT rs6084258 (p = 0.001) and ASD. Associations with several endophenotypes were also noted: OXT rs6133010 was associated with IQ (full scale IQ, p = 0.008; nonverbal IQ, p = 0.010, verbal IQ, p = 0.006); and OXT rs4813625 and OXT rs877172 were associated with WB5HT levels (EA, p = 0.027 and p = 0.033, respectively). Additionally, we measured plasma OT (pOT) levels in a subsample (N = 54). Results show the three polymorphisms, OXT rs6084258, OXT rs11697250, and OXT rs877172, have significant association with pOT (EA, p = 0.011, p = 0.010, and p = 0.002, respectively).Conclusions: These findings suggest that SNPs near OXT and AVP are associated with diagnosis of ASD, social behaviors, restricted and repetitive behaviors, IQ, pOT, and WB5HT. Future studies need to replicate these findings and examine gene-interactions in other neurodevelopmental disorders. Mechanisms of action may influence early social and cognitive development that may or may not be limited to ASD diagnosis.

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Restricted repetitive behaviors: Connections between autism spectrum and obsessive-compulsive spectrum disorders.

Cited by 2 publications

References 109 publications

Repeating patterns: Predictive processing suggests an aesthetic learning role of the basal ganglia in repetitive stereotyped behaviors

Repeating patterns: Predictive processing suggests an aesthetic learning role of the basal ganglia in repetitive stereotyped behaviors

Variants in Adjacent Oxytocin/Vasopressin Gene Region and Associations with ASD Diagnosis and Other Autism Related Endophenotypes

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