Background Triple X syndrome (TXS) is caused by aneuploidy of the X chromosome and is associated with impaired social functioning in children; however, its effect on social functioning and emotion recognition in adults is poorly understood. Aims The aim of this study was to investigate social functioning and emotion recognition in adults with TXS. Method This cross-sectional cohort study was designed to compare social functioning and emotion recognition between adults with TXS (n = 34) and an age-matched control group (n = 31). Social functioning was assessed with the Adult Behavior Checklist and Social Responsiveness Scale for Adults. Emotion recognition was assessed with the Emotion Recognition Task in the Cambridge Neuropsychological Test Automated Battery. Differences were analysed by Mann-Whitney U-test. Results Compared with controls, women with TXS scored higher on the Adult Behavior Checklist, including the Withdrawn scale (P < 0.001, effect size 0.4) and Thought Problems scale (P < 0.001, effect size 0.4); and higher on the Social Responsiveness Scale for Adults, indicating impaired social functioning (P < 0.001, effect size 0.5). In addition, women with TXS performed worse on the Emotion Recognition Task, particularly with respect to recognising sadness (P < 0.005, effect size 0.4), fear (P < 0.01, effect size 0.4) and disgust (P < 0.02, effect size 0.3). Conclusions Our findings indicate that adults with TXS have a higher prevalence of impaired social functioning and emotion recognition. These results highlight the relevance of sex chromosome aneuploidy as a potential model for studying disorders characterised by social impairments such as autism spectrum disorder, particularly among women.
Background Previous meta-analyses have shown that almost all antipsychotics are associated with weight gain. However, mean weight gain is not informative about clinically relevant weight gain or weight loss. Aims To provide further insight into the more severe body weight changes associated with antipsychotic use, we assessed the proportion of patients with clinically relevant weight gain (CRWG) and clinically relevant weight loss (CRWL), defined as ≥7% weight gain and ≥7% weight loss. Method We searched PubMed, Embase and PsycInfo for randomised controlled trials of antipsychotics that reported CRWG and CRWL in study populations aged 15 years or older. We conducted meta-analyses stratified by antipsychotic and study duration using a random-effects model. We performed meta-regression analyses to assess antipsychotic-naive status and psychiatric diagnosis as modifiers for CRWG. PROSPERO: CRD42020204734. Results We included 202 articles (201 studies). Almost all included antipsychotics were associated with CRWG. For CRWL, available data were too limited to draw firm conclusions. For some antipsychotics, CRWG was more pronounced in individuals who were antipsychotic-naive than in individuals switching to another antipsychotic. Moreover, a longer duration of antipsychotic use was associated with more CRWG, but not CRWL. For some antipsychotics, CRWG was higher in people diagnosed with schizophrenia, but this was inconsistent. Conclusions Switching antipsychotic medication is associated with both weight gain and weight loss, but the level of CRWG is higher than CRWL in antipsychotic-switch studies. CRWG was more pronounced in antipsychotic-naive patients, highlighting their vulnerability to weight gain. The impact of diagnosis on CRWG remains inconclusive.
Background Triple X syndrome (47,XXX) is a relatively common sex chromosomal aneuploidy characterized by the presence of a supernumerary X chromosome in females and has been associated with a variable cognitive, behavioural and psychiatric phenotype. 47,XXX may serve as a suitable model for studying the effect of genetic architecture on brain morphology. Previous studies have shown alterations in brain structure in 47,XXX particularly in childhood and adolescence. In this study, we examined subcortical and cortical brain morphology in adult women with 47,XXX using ultra-high field 7T MRI. Given previous evidence of impaired social functioning and emotion recognition in adults with 47,XXX, we also investigated the relationship of these functions with brain morphology. Methods Twenty-one adult women with 47,XXX and 22 age- and sex-matched healthy controls were included. Structural T1-weighted images were acquired using a 7-Tesla magnetic resonance scanner. Measures of subcortical brain volumes, cortical surface area and thickness, and cortical folding were obtained and compared between the groups using general linear models. Additionally, we examined potential relationships between brain outcome measures and social functioning and social cognition in 47,XXX using correlation analyses. Results Adults with 47,XXX showed lower volumes of the thalamus, caudate, putamen, hippocampus, nucleus accumbens and pallidum, and larger lateral ventricle volumes. Lower surface area was found in the superior frontal gyrus and superior temporal gyrus in 47,XXX participants compared to healthy controls. Altered cortical thickness and cortical folding were not present in 47,XXX. Cortical thickness was associated with social cognition in 47,XXX. Conclusions Results suggest that a supernumerary X chromosome in females affects subcortical and lateral ventricle volumes, and cortical surface area in adulthood. 47,XXX may serve as a suitable model for studying genetic influences on structural brain morphology across developmental stages in order to understand neurobiological mechanisms underlying cognitive and behavioural impairments.
Triple X syndrome (TXS, also known as trisomy X or 47,XXX) has been associated with impaired overall neurocognitive functioning in children and relatively young adults. However, neurocognitive functioning in adults with TXS is poorly understood. The aim of this study was, therefore, to examine cognitive functioning in adults with TXS. Methods: In this cross-sectional study, data were collected from 34 adult women with TXS (mean age = 32.9; SD = 13.1) and 31 controls (mean age = 34.9; SD = 13.7). General intellectual functioning, semantic/verbal memory, visual/episodic memory, psychomotor speed, and attention and executive functioning were then compared between these two groups. Results: We found that general intellectual functioning was significantly lower in the TXS group compared to the control group. In addition, women with TXS had more attention problems and lower psychomotor speed, particularly motor processing speed. When the analyses were adjusted for IQ, the strength of these associations decreased. The women in the TXS group also scored significantly lower at free recall in the verbal memory test, but not in immediate or delayed recognition. Finally, visual/episodic memory and executive functioning did not differ significantly between groups. Conclusions: Our analysis revealed that women with TXS score lower in general intellectual functioning and have impairments in motor processing speed and attention compared to controls, but do not differ with respect to executive functioning. These results offer new insights for improving the support of adults with TXS both at school and in the workplace.
Background Antipsychotic (AP) medication is associated with metabolic dysregulation, increasing the risk for weight gain. Previously, we showed that all antipsychotics are related with body weight gain and there was a time effect, the longer the AP was taken the more the weight gain was (Bak, Fransen, Janssen, van Os, & Drukker, 2014). This study included data from 1999–2013. The aim of this study is to up-date the previous study on weight gain by extending the search from 1960 – July 2019. So, older studies of before 2000 were in included as well as studies on AP’s after 2014. The differences in weight change between the various AP’s were calculated. Methods A systematic search was performed using the databases PubMed and EMBASE. Eligible RCTs were identified and no restriction was made regarding diagnosis or publication date. Statistical analysis was based on a random effects model from which forest plots were generated. Effect sizes were reported as the standardized mean difference (SMD) with 95% confidence intervals (CI). Results were presented stratified by four exposure categories, namely < 6 weeks, 6–16 weeks, 16–38 weeks, and ≥ 38 weeks. Furthermore, that results are divided in AP naive patients (patients who had no AP previously) and patient in whom AP were switched from at least one other AP. Patients >17 years of age were excluded and all diagnostic categories were included. Results In total 3488 papers were found. Following PRSIMA guidelines in total 472 papers were eligible for inclusion. Preliminary results. For the longer term 16–38 & >38 wks all AP-naive patients showed an increase in weight of > 5 kg, except for aripiprazole (< 6wks, 0.46kg; 6-16wks, 2.04kg; 16-38wks, 4.5kg; >38 wks, 3.31kg), paliperidone (< 6wks, 1.24kg; 6-16wks, 1.69kg; 16-38wks, -0.3kg; >38wks 0.2kg), quetiapine (< 6wks, 2.51kg; 6-16wks, 2.69kg; 16-38wks, 3.02kg; >38wks 6.14kg) and ziprasidone (< 6wks, 0.06kg; 6-16wks, 0.32kg; 16-38wks, 0.51kg; >38wks 2.18kg). The result of the switch studies shows that clozapine and olanzapine result in most weight gain after switch. Other AP result in modest weight gain to weight loss over the various time periods: amisulpride (range -0.76 and 1.40), aripriprazole (range -0.81 and 0.81), asenapine (-0.99 – 1.14), haloperidol (0.49 – 1.31) and ziprasidone (-1.18 – -0.38). During SIRS final results will be presented. Discussion The number of studies in AP naif patients is limited. Most RCT’s discuses medication evaluation after switch into a new compound. Here, metabolic changes may interact with evaluation of changes in weight. However, switching an AP because after severe weight gain needs to be considered with caution as it does not result in considerable weight loss. The AP-naive show that all AP lead to weight gain. Given only patient older than 17years were included, this might explain the limited number of available studies. However, younger age seems to be associated were an increased risk of weight gain. Reference Bak, M., Fransen, A., Janssen, J., van Os, J., & Drukker, M. (2014). Almost all antipsychotics result in weight gain: a meta-analysis. PLoS One, 9(4), e94112. doi:10.1371/journal.pone.0094112
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