Dataset Information

Social communication deficits and restricted repetitive behavior symptoms in Tourette syndrome.

ABSTRACT: Background: Autism spectrum disorders (ASD) have been found to occur more frequently in individuals with Tourette syndrome (TS) than in the general population. Similarities exist between ASD and TS clinically, which suggests a potential relationship between the two conditions. Purpose: The purpose of this study was to explore the occurrence of autism-related features in ASD and TS, focusing on areas of overlap and difference. Patients and methods: This study examined the nature and extent of autistic traits as measured by the Social Communication Questionnaire (SCQ) in a sample with a diagnosis of TS, a sample diagnosed to have ASD, and a normative general population sample. Results: The TS sample had significantly higher mean SCQ scores than the general population, but generally lower scores than the ASD sample. The group differences in mean SCQ scores between the TS and ASD sample were significant except in the domain of restricted repetitive behaviours (RRB). Conclusion: This suggests that ASD traits occur commonly in the TS population, with a significant overlap in certain clinical features. This was especially the case for complex movements or repetitive behaviours, which may represent either: i) a shared phenotype which is subclinical, ii) a phenocopy where some clinical symptoms mimic each other, or iii) a co-morbidity. Awareness of this association can be useful in identifying these symptoms as part of the comprehensive assessment of TS and addressing these to improve the overall clinical outcomes in these patients.

SUBMITTER: Eapen V

PROVIDER: S-EPMC6666375 | biostudies-literature | 2019

REPOSITORIES: biostudies-literature

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Social communication deficits and restricted repetitive behavior symptoms in Tourette syndrome.

Eapen Valsamma V McPherson Sarah S Karlov Lisa L Nicholls Laura L Črnčec Rudi R Mulligan Aisling A

Neuropsychiatric disease and treatment 20190726

Background: Autism spectrum disorders (ASD) have been found to occur more frequently in individuals with Tourette syndrome (TS) than in the general population. Similarities exist between ASD and TS clinically, which suggests a potential relationship between the two conditions. Purpose: The purpose of this study was to explore the occurrence of autism-related features in ASD and TS, focusing on areas of overlap and difference. Patients and methods: This study examined the nat ...[more]

PMID: 31440054

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Project description: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.

Project description:Etiology of aberrant social behavior consistently points to a strong polygenetic component involved in fundamental developmental pathways, with the potential of being enhanced by defects in bioenergetics. To this end, the occurrence of social deficits and mitochondrial outcomes were evaluated in conditional Pten (Phosphatase and tensin homolog) haplo-insufficient mice, in which only one allele was selectively knocked-out in neural tissues. Pten mutations have been linked to Alzheimer's disease and syndromic autism spectrum disorders, among others. By 4-6 weeks of age, Pten insufficiency resulted in the increase of several mitochondrial Complex activities (II-III, IV and V) not accompanied by increases in mitochondrial mass, consistent with an activation of the PI3K/Akt pathway, of which Pten is a negative modulator. At 8-13 weeks of age, Pten haplo-insufficient mice did not show significant behavioral abnormalities or changes in mitochondrial outcomes, but by 20-29 weeks, they displayed aberrant social behavior (social avoidance, failure to recognize familiar mouse, and repetitive self-grooming), macrocephaly, increased oxidative stress, decreased cytochrome c oxidase (CCO) activity (50%) and increased mtDNA deletions in cerebellum and hippocampus. Mitochondrial dysfunction was the result of a downregulation of p53-signaling pathway evaluated by lower protein expression of p21 (65% of controls) and the CCO chaperone SCO2 (47% of controls), two p53-downstream targets. This mechanism was confirmed in Pten-deficient striatal neurons and, HCT 116 cells with different p53 gene dosage. These results suggest a unique pathogenic mechanism of the Pten-p53 axis in mice with aberrant social behavior: loss of Pten (via p53) impairs mitochondrial function elicited by an early defective assembly of CCO and later enhanced by the accumulation of mtDNA deletions. Consistent with our results, (i) SCO2 deficiency and/or CCO activity defects have been reported in patients with learning disabilities including autism and (ii) mutated proteins in ASD have been found associated with p53-signaling pathways.

Project description:The current study aimed to explore the factor structure of a broad range of restricted and repetitive behaviors (RRB) within the autism spectrum. Exploratory structural equation modeling was conducted using individual item-level data from the Diagnostic Interview for Social and Communication Disorders (DISCO). DISCO is a comprehensive semi-structured interview used by clinicians to elicit information from caregivers about the individual's profile of development and behavior. Data from a sample of 226 individuals with a clinical diagnosis of autism spectrum disorder (ASD) (189 males; Mage = 11.82 years, SDage = 7.87) were analyzed. The six-factor structure provided the most optimal and interpretable fit (comparative fit index = 0.944, Tucker-Lewis index = 0.923, root mean square error of approximation = 0.018). Derived factors were interpreted as repetitive motor behaviors (RMB), unusual sensory and object focused interests (USOI), sensory sensitivity (SS), insistence on sameness (IS), circumscribed interests (CI) and stereotyped language (SL). Age was significantly negatively associated with RMB, USOI and SL but not with SS, IS or CI factor scores. None of the factors were associated with sex. ASD individuals with intellectual disability (ID) had the highest RMB, USOI, SS and SL scores while those without ID had the highest IS and CI scores. Our findings provide preliminary evidence for the utility of the DISCO as a comprehensive measure of several distinct RRB domains in both research and clinical contexts. Importantly, the current investigation highlights crucial areas for measurement development. LAY SUMMARY: The diagnostic Interview for Social and Communication Disorders (DISCO) is a detailed caregiver report clinical interview designed to capture a wide range of key features associated with autism spectrum disorder, including restricted and repetitive behaviors (RRB). This paper provides initial evidence that the DISCO is a promising measure for assessing a wide range of RRB including repetitive motor behaviors, insistence on sameness, circumscribed interests, unusual interests in sensory stimuli, sensory sensitivity and stereotypic language.

Project description:ContextTics in Tourette syndrome begin in childhood, peak in early adolescence, and often decrease by early adulthood. However, some adult patients continue to have impairing tics. Medications for tics are often effective but can cause adverse effects. Behavior therapy may offer an alternative but has not been examined in a large-scale controlled trial in adults.ObjectiveTo test the efficacy of a comprehensive behavioral intervention for tics in adults with Tourette syndrome of at least moderate severity.DesignA randomized controlled trial with posttreatment evaluations at 3 and 6 months for positive responders.SettingThree outpatient research clinics.PatientsPatients (N = 122; 78 males; age range, 16-69 years) with Tourette syndrome or chronic tic disorder were recruited between December 27, 2005, and May 21, 2009.InterventionsPatients received 8 sessions of comprehensive behavioral intervention for tics or 8 sessions of supportive treatment for 10 weeks. Patients with a positive response were given 3 monthly booster sessions.Main outcome measuresTotal tic score on the Yale Global Tic Severity Scale and the Clinical Global Impression-Improvement scale rated by a clinician masked to treatment assignment.ResultsBehavior therapy was associated with a significantly greater mean (SD) decrease on the Yale Global Tic Severity Scale (24.0 [6.47] to 17.8 [7.32]) from baseline to end point compared with the control treatment (21.8 [6.59] to 19.3 [7.40]) (P < .001; effect size = 0.57). Twenty-four of 63 patients (38.1%) were rated as much improved or very much improved on the Clinical Global Impression-Improvement scale compared with 4 of 63 (6.4%) in the control group (P < .001). Attrition was 13.9%, with no difference across groups. Patients receiving behavior therapy who were available for assessment at 6 months after treatment showed continued benefit.ConclusionComprehensive behavior therapy is a safe and effective intervention for adults with Tourette syndrome.Trial registrationclinicaltrials.gov Identifier: NCT00231985.

Dataset Information

Social communication deficits and restricted repetitive behavior symptoms in Tourette syndrome.

Publications

Social communication deficits and restricted repetitive behavior symptoms in Tourette syndrome.

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