CACNA1C as a risk factor for schizotypal personality disorder and schizotypy in healthy individuals.
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ABSTRACT:
SUBMITTER: Roussos P
PROVIDER: S-EPMC4176879 | biostudies-literature | 2013 Mar
REPOSITORIES: biostudies-literature
Publications
CACNA1C as a risk factor for schizotypal personality disorder and schizotypy in healthy individuals.
Roussos Panos P Bitsios Panos P Giakoumaki Stella G SG McClure Margaret M MM Hazlett Erin A EA New Antonia S AS Siever Larry J LJ
Psychiatry research 20120915 1
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Project description:Despite being identified as a high risk cohort for psychosis, there has been relatively little research on the clinical presentation and assessment of Schizotypal Personality Disorder (SPD) in childhood. The current study aimed to develop a measure of childhood SPD (Melbourne Assessment of Schizotypy in Kids (MASK)) and assess discriminant validity against another neurodevelopmental disorder, autism spectrum disorder (ASD). Sixty-eight children aged between 5 and 12 (21 SPD, 15 ASD, and 32 typically developing) and their parents were administered the MASK. The MASK is a 57-item semistructured interview that obtains information from the child, their parents, and the clinician. The results showed high internal consistency for the MASK and higher scores in the SPD group. A factor analysis revealed two MASK factors: social/pragmatic symptoms and positive schizotypal symptoms. Both factors were associated with SPD, while only the social/pragmatic factor was associated with ASD. Within the two clinical groups, a receiver operating characteristic curve showed that the MASK (cut-off score: 132 out of 228) was a good indicator of SPD diagnosis. These preliminary MASK findings were reliable and consistent and suggest that childhood SPD is characterised by complex symptomology distinguishable from ASD.
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Project description:The variant at rs1006737 in the L-type voltage-gated calcium channel (alpha 1c subunit) CACNA1C gene is reliably associated with both bipolar disorder and schizophrenia. We investigated whether this risk variant affects reward responsiveness because reward processing is one of the central cognitive-motivational domains implicated in both disorders. In a sample of 164 young, healthy individuals, we show a dose-dependent response, where the rs1006737 risk genotype was associated with blunted reward responsiveness, whereas discriminability did not significantly differ between genotype groups. This finding suggests that the CACNA1C risk locus may have a role in neural pathways that facilitate value representation for rewarding stimuli. Impaired reward processing may be a transdiagnostic phenotype of variation in CACNA1C that could contribute to anhedonia and other clinical features common to both affective and psychotic disorders.
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Project description:Motor abnormalities are among the most robust findings in schizophrenia, and increasing evidence suggests they are a core feature of the disorder. Postural sway during balance tasks is a highly sensitive probe of sensorimotor systems including the cerebellum, basal ganglia, and motor cortices. Postural sway deficits are present in schizophrenia as well as groups at high risk for psychosis, suggesting altered postural control may be sensitive to the pathophysiological processes associated with risk and expression of schizophrenia spectrum disorders. This study examined postural sway performance in schizotypal personality disorder (SPD). Individuals with SPD have attenuated psychotic symptoms and share genetic risk with schizophrenia but are usually free from antipsychotic medication and other illness confounds, making SPD useful for assessing candidate biomarkers. We measured postural sway using force plates in 27 individuals with SPD, 27 carefully matched controls, and 27 matched patients with schizophrenia. It was predicted that postural sway in the SPD group would fall intermediate to schizophrenia and controls. In all conditions (eyes open and closed, with feet together or apart), the SPD group swayed significantly more than the controls, as measured by path length and sway area. Moreover, the magnitude of the sway deficit was comparable in the SPD and schizophrenia groups. These findings suggest that postural sway measures may represent a sensorimotor biomarker of schizophrenia spectrum disorders.
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Project description:Recognition and correct interpretation of facial emotion is essential for social interaction and communication. Previous studies have shown that impairments in this cognitive domain are common features of several psychiatric disorders. Recent association studies identified CACNA1C as one of the most promising genetic risk factors for psychiatric disorders and previous evidence suggests that the most replicated risk variant in CACNA1C (rs1006737) is affecting emotion recognition and processing. However, studies investigating the influence of rs1006737 on this intermediate phenotype in healthy subjects at the behavioral level are largely missing to date. Here, we applied the "Reading the Mind in the Eyes" test, a facial emotion recognition paradigm in a cohort of 92 healthy individuals to address this question. Whereas accuracy was not affected by genotype, CACNA1C rs1006737 risk-allele carries (AA/AG) showed significantly slower mean response times compared to individuals homozygous for the G-allele, indicating that healthy risk-allele carriers require more information to correctly identify a facial emotion. Our study is the first to provide evidence for an impairing behavioral effect of the CACNA1C risk variant rs1006737 on facial emotion recognition in healthy individuals and adds to the growing number of studies pointing towards CACNA1C as affecting intermediate phenotypes of psychiatric disorders.
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Project description:This study aimed to explore the differences in pathogenic beliefs (PBs) between patients with schizotypal personality disorder (PD) and those with other PDs or without any PD. The study was conducted among 212 patients treated with psychotherapy at the Psychotherapy and Personality Disorder Clinic, Chiang Mai University between 2007 and 2019. Collected data included sociodemographic information, psychiatric disorders and personality disorder as determined by the Structured Clinical Interview for the Diagnostic and Statistical Manual of Mental Disorders, 5th Edition, and the Pathogenic Belief Scale (PBS). An analysis was conducted to compare three groups, i.e., patients with schizotypal PD, patients with other PDs and patients without any PD. The PBS score was compared by two outcomes: a total score and a categorical score of individual items. The entire sample was predominantly female (62.3%) with a mean age of 31.41 years. Most participants had a bachelor's degree (76.9%), lived alone (72.6%) and received diagnoses of major depressive disorder (45.8%). No significant differences were found in participants' characteristics regarding age, sex, educational level, marital status and psychiatric clinical diagnosis among the three groups. The mean PBS total score was highest for schizotypal PD (mean = 58.74, SD = 11.54), compared with non-schizotypal PD (mean = 46.14, SD = 13.15) and non-PD (mean = 46.07, SD = 11.17). Twenty of 27 items were significantly higher in the schizotypal PD group than in other groups, after adjusting for type I error. The number of PBs was significantly prominent for schizotypal PD. Possible explanations were provided.
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