Little is known about the anxiety patients experience before attending for dental treatment. The aim of this study was to determine, in dentally phobic patients, the temporal relationship of pre-operative anxiety levels, and the disruption to daily life caused by this. Twenty-four phobic and 19 comparison (non-phobic) dental patients were recruited. Four validated questionnaires were used to assess anxiety and quality of life, which each patient completed for 5 days prior to, and on the day of, treatment. Those in the experimental group were found to have significantly greater levels of dental and general anxiety, and a significantly lower quality of life compared with those in the comparison group. Significant temporal relationships were found with all of the questionnaires. Dental and general anxiety scores were significantly correlated with quality-of-life measures. This study suggests that phobic dental patients are experiencing significant increased anxiety, and significant negative quality-of-life effects, in this period.

Sex chromosome aneuploidy (SCA) increases the risk for cognitive deficits, and confers changes in regional cortical thickness (CT) and surface area (SA). Neuroanatomical correlates of inter‐individual variation in cognitive ability have been described in health, but are not well‐characterized in SCA. Here, we modeled relationships between general cognitive ability (estimated using full‐scale IQ [FSIQ] from Wechsler scales) and regional estimates of SA and CT (from structural MRI scans) in both aneuploid (28 XXX, 55 XXY, 22 XYY, 19 XXYY) and typically‐developing euploid (79 XX, 85 XY) individuals. Results indicated widespread decoupling of normative anatomical–cognitive relationships in SCA: we found five regions where SCA significantly altered SA–FSIQ relationships, and five regions where SCA significantly altered CT–FSIQ relationships. The majority of areas were characterized by the presence of positive anatomy‐IQ relationships in health, but no or slightly negative anatomy‐IQ relationships in SCA. Disrupted anatomical–cognitive relationships generalized from the full cohort to karyotypically defined subcohorts (i.e., XX‐XXX; XY‐XYY; XY‐XXY), demonstrating continuity across multiple supernumerary SCA conditions. As the first direct evidence of altered regional neuroanatomical–cognitive relationships in supernumerary SCA, our findings shed light on potential genetic and structural correlates of the cognitive phenotype in SCA, and may have implications for other neurogenetic disorders.

Background Disorders of gene dosage can significantly increase risk for psychopathology, but outcomes vary greatly amongst carriers of any given chromosomal aneuploidy or sub-chromosomal copy number variation (CNV). One potential path to advance precision medicine for neurogenetic disorders is modeling penetrance in probands relative to observed phenotypes in their non-carrier relatives. Here, we seek to advance this general analytic framework by developing new methods in application to XYY syndrome—a sex chromosome aneuploidy that is known to increase risk for psychopathology. Methods We analyzed a range of cognitive and behavioral domains in XYY probands and their non-carrier family members (n = 58 families), including general cognitive ability (FSIQ), as well as continuous measures of traits related to autism spectrum disorder (ASD) and attention deficit hyperactivity disorder (ADHD). Proband and relative scores were compared using covariance, regression and cluster analysis. Comparisons were made both within and across traits. Results Proband scores were shifted away from family scores with effect sizes varying between 0.9 and 2.4 across traits. Only FSIQ and vocabulary scores showed a significant positive correlation between probands and their non-carrier relatives across families (R2 ~ 0.4). Variability in family FSIQ also cross-predicted variability in proband ASD trait severity. Cluster analysis across all trait-relative pairings revealed that variability in parental psychopathology was more weakly coupled to their XYY versus their euploid offspring. Conclusions We present a suite of generalizable methods for modeling variable penetrance in aneuploidy and CNV carriers using family data. These methods update estimates of phenotypic penetrance for XYY and suggest that the predictive utility of family data is likely to vary for different traits and different gene dosage disorders. Trial registrations ClinicalTrials.govNCT00001246, “89-M-0006: Brain Imaging of Childhood Onset Psychiatric Disorders, Endocrine Disorders and Healthy Controls.” Date of registry: 01 October 1989.

Recent literature suggests that schizophrenia is linked to an abnormal response of the immune system. Interferon-γ is a cytokine that acts as a mediator between immune stimulation and the kynurenine pathway and may be related to cognitive abilities. The objectives of the present study are to determine if serum cytokines are correlated with cognitive function differently in patients with schizophrenia compared to controls. Fourteen midlife (30-70 year-old) females with DSM-IV diagnosis of schizophrenia or schizoaffective disorder and 13 midlife control females were analyzed. Cytokines were collected from serum blood draws and analyzed at the Cytokine Core Lab at the University of Maryland, Baltimore. The RBANS, HVLT-R, and UPSA were performed to measure cognition and social performance. The results demonstrate a non-significant difference between interferon-γ levels in women with schizophrenia compared to controls, but this cytokine appears to correlate to cognitive abilities differently in these groups. There were several significant negative correlations between interferon-γ and cognition in midlife patients with schizophrenia, but only one in the midlife control group. The negative correlations between interferon-γ and cognition in patients with schizophrenia suggest the hypothesis that inflammation and the kynurenine pathway have important roles in this disorder.