scholarly journals Social functioning and emotion recognition in adults with triple X syndrome

BJPsych Open ◽  
2021 ◽  
Vol 7 (2) ◽  
Author(s):  
Maarten Otter ◽  
Peter M. L. Crins ◽  
Bea C. M. Campforts ◽  
Constance T. R. M. Stumpel ◽  
Thérèse A. M. J. van Amelsvoort ◽  
...  

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 Results Compared with controls, women with TXS scored higher on the Adult Behavior Checklist, including the Withdrawn scale (P 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.

2011 ◽  
Vol 198 (4) ◽  
pp. 302-308 ◽  
Author(s):  
Ian M. Anderson ◽  
Clare Shippen ◽  
Gabriella Juhasz ◽  
Diana Chase ◽  
Emma Thomas ◽  
...  

BackgroundNegative biases in emotional processing are well recognised in people who are currently depressed but are less well described in those with a history of depression, where such biases may contribute to vulnerability to relapse.AimsTo compare accuracy, discrimination and bias in face emotion recognition in those with current and remitted depression.MethodThe sample comprised a control group (n = 101), a currently depressed group (n = 30) and a remitted depression group (n = 99). Participants provided valid data after receiving a computerised face emotion recognition task following standardised assessment of diagnosis and mood symptoms.ResultsIn the control group women were more accurate in recognising emotions than men owing to greater discrimination. Among participants with depression, those in remission correctly identified more emotions than controls owing to increased response bias, whereas those currently depressed recognised fewer emotions owing to decreased discrimination. These effects were most marked for anger, fear and sadness but there was no significant emotion × group interaction, and a similar pattern tended to be seen for happiness although not for surprise or disgust. These differences were confined to participants who were antidepressant-free, with those taking antidepressants having similar results to the control group.ConclusionsAbnormalities in face emotion recognition differ between people with current depression and those in remission. Reduced discrimination in depressed participants may reflect withdrawal from the emotions of others, whereas the increased bias in those with a history of depression could contribute to vulnerability to relapse. The normal face emotion recognition seen in those taking medication may relate to the known effects of antidepressants on emotional processing and could contribute to their ability to protect against depressive relapse.


2021 ◽  
pp. 135910452110331
Author(s):  
Samah K Aburahma ◽  
Hanan Hammouri ◽  
Ethar Hazaimeh ◽  
Omar Jbarah ◽  
Ahmad Nassar ◽  
...  

Children with epilepsy are at risk for impaired social cognition and autism. We aimed at evaluating the utility of the social responsiveness scale (SRS) for assessment of social impairment in these children. Prospective study; the SRS was applied to a group of children with epilepsy and a healthy control group. Intellectual disability in the epilepsy group was assessed utilizing adapted versions of the Wechsler Intelligence and adaptive behavior scales. One hundred and one children with epilepsy and 92 healthy children were included. The majority of children in both groups had normal SRS scores. Significant differences were identified in children with high total scores indicating significant deficiencies in reciprocal social behavior; high scores were found in 16% of children with epilepsy versus 7% of normal children, p < .05, particularly involving social communication, p < .05. Intellectual disability was identified in 42% of children with epilepsy, particularly processing speed index, p < .001. Intellectual disability had a significant effect on total scores, p = .016. Children with epilepsy have increased risk of social impairments. Social impairments are more likely in the presence of intellectual disability. The SRS is a quick identification tool that can be employed in the outpatient setting.


PLoS ONE ◽  
2020 ◽  
Vol 15 (12) ◽  
pp. e0243162
Author(s):  
Barry Wright ◽  
Helen Phillips ◽  
Ann Le Couteur ◽  
Jennifer Sweetman ◽  
Rachel Hodkinson ◽  
...  

A Delphi consensus methodology was used to adapt a screening tool, the Social Responsiveness Scale– 2 (SRS-2), for use with deaf children including those whose preferred communication method is sign language. Using this approach; 27 international experts (The Delphi International Expert Panel), on the topic of autism spectrum disorder (ASD) in deaf people, contributed to the review of item content. A criterion for agreement was set at 80% of experts on each item (with 75% acceptable in the final fourth round). The agreed modifications are discussed. The modified SRS-2 research adaptation for deaf people (referred to here as the “SRS-2 Deaf adaptation”) was then translated into British Sign Language using a robust translation methodology and validated in England in a sample of 198 deaf children, 76 with Autism Spectrum Disorders (ASD) and 122 without ASD. The SRS-2 Deaf adaptation was compared blind to a NICE (National Institute for Health and Care Excellence) guideline standard clinical assessment. The area under the Receiver Operating (ROC) curve was 0.811 (95% CI: 0.753, 0.869), with an optimal cut-off value of 73, which gave a sensitivity of 82% and a specificity of 67%. The Cronbach Alpha coefficient was 0.968 suggesting high internal consistency. The Intraclass Correlation Coefficient was 0.897, supporting test-retest reliability. This performance is equivalent to similar instruments used for screening ASD in the hearing population.


2018 ◽  
Vol 62 (2) ◽  
pp. 220-229 ◽  
Author(s):  
Charles D. Cederberg ◽  
Lianne C. Gann ◽  
Megan Foley-Nicpon ◽  
Zachary Sussman

High-ability youth diagnosed with autism spectrum disorder (ASD) historically have been neglected within samples validating ASD screening measures, and consensus for what constitutes high ability has not been established. The Autism Spectrum Screening Questionnaire (ASSQ) and Social Responsiveness Scale (SRS) are two common screening tools for ASD used within research and practice settings. We investigated the accuracy of the ASSQ and SRS for ASD identification among a sample of 23 high-ability youth previously diagnosed with ASD. Results suggest both ASSQ and SRS measures inconsistently screened for ASD. The high-ability students with ASD scored significantly lower on the SRS total score and social cognition, communication, and motivation subscales, suggesting potential phenotypic differences among high-ability youth with ASD that could inform assessment and intervention strategies.


Autism ◽  
2019 ◽  
Vol 23 (8) ◽  
pp. 2096-2111 ◽  
Author(s):  
Antonio Y Hardan ◽  
Robert L Hendren ◽  
Michael G Aman ◽  
Adelaide Robb ◽  
Raun D Melmed ◽  
...  

Three phase 2 trials were conducted to assess the efficacy and long-term safety of weight-based memantine extended release (ER) treatment in children with autism spectrum disorder. MEM-MD-91, a 50-week open-label trial, identified memantine extended-release treatment responders for enrollment into MEM-MD-68, a 12-week randomized, double-blind, placebo-controlled withdrawal trial. MEM-MD-69 was an open-label extension trial in which participants from MEM-MD-68, MEM-MD-91, and open-label trial MEM-MD-67 were treated ⩽48 weeks with memantine extended release. In MEM-MD-91, 517 (59.6%) participants were confirmed Social Responsiveness Scale responders at week 12; mean Social Responsiveness Scale total raw scores improved two to three times a minimal clinically important difference of 10 points. In MEM-MD-68, there was no difference between memantine and placebo on the primary efficacy parameter, the proportion of patients with a loss of therapeutic response (defined as ⩾10-point increase from baseline in Social Responsiveness Scale total raw score). MEM-MD-69 exploratory analyses revealed mean standard deviation improvement in Social Responsiveness Scale total raw score of 32.4 (26.4) from baseline of the first lead-in study. No new safety concerns were evident. While the a priori–defined efficacy results of the double-blind trial were not achieved, the considerable improvements in mean Social Responsiveness Scale scores from baseline in the open-label trials were presumed to be clinically important.


2017 ◽  
Vol 114 (30) ◽  
pp. 8119-8124 ◽  
Author(s):  
Karen J. Parker ◽  
Ozge Oztan ◽  
Robin A. Libove ◽  
Raena D. Sumiyoshi ◽  
Lisa P. Jackson ◽  
...  

Autism spectrum disorder (ASD) is characterized by core social deficits. Prognosis is poor, in part, because existing medications target only associated ASD features. Emerging evidence suggests that the neuropeptide oxytocin (OXT) may be a blood-based biomarker of social functioning and a possible treatment for ASD. However, prior OXT treatment trials have produced equivocal results, perhaps because of variability in patients’ underlying neuropeptide biology, but this hypothesis has not been tested. Using a double-blind, randomized, placebo-controlled, parallel design, we tested the efficacy and tolerability of 4-wk intranasal OXT treatment (24 International Units, twice daily) in 32 children with ASD, aged 6–12 y. When pretreatment neuropeptide measures were included in the statistical model, OXT compared with placebo treatment significantly enhanced social abilities in children with ASD [as measured by the trial’s primary outcome measure, the Social Responsiveness Scale (SRS)]. Importantly, pretreatment blood OXT concentrations also predicted treatment response, such that individuals with the lowest pretreatment OXT concentrations showed the greatest social improvement. OXT was well tolerated, and its effects were specific to social functioning, with no observed decrease in repetitive behaviors or anxiety. Finally, as with many trials, some placebo-treated participants showed improvement on the SRS. This enhanced social functioning was mirrored by a posttreatment increase in their blood OXT concentrations, suggesting that increased endogenous OXT secretion may underlie this improvement. These findings indicate that OXT treatment enhances social abilities in children with ASD and that individuals with pretreatment OXT signaling deficits may stand to benefit the most from OXT treatment.


2015 ◽  
Vol 21 (5) ◽  
pp. 364-372 ◽  
Author(s):  
Sophie van Rijn

AbstractBoys and men with an extra X chromosome (47,XXY, Klinefelter syndrome) are at risk for problems in social functioning and have an increased vulnerability for autism spectrum disorders (ASD). In the search for underlying mechanisms driving this increased risk, this study focused on social attention, that is, spontaneous orientation toward facial expressions. Seventeen adults with 47,XXY and 20 non-clinical controls participated in this study. Social attention was measured using an eyetracking method that quantifies the visual scanning patterns of faces expressing different types of emotions (happy, fearful, angry, neutral) and their varying intensity levels (25%, 50%, 75%, 100%). Overall, the group with Klinefelter syndrome fixated less on the eye region of faces when compared to controls (Cohen’s d 1.4), and did not show the typical tendency, as was found in the control group, to first fixate on the eyes when presented with a face (Cohen’s d 1.0). There was no significant effect of type or intensity of emotion. Shorter looking times toward eyes showed a borderline significant correlation with self-reports of poorer social functioning, with 29% explained variance. These findings suggest a reduced tendency to rapidly and automatically attend to the eyes of others in individuals with 47,XXY. This may have impact on more complex social-cognitive abilities that build upon this. In addition to studies of behaviorally defined disorders such as ASD, studying individuals with Klinefelter syndrome provide insight into mechanisms underlying various “at risk” pathways of social dysfunction and the factors that mediate this risk. (JINS, 2015, 21, 364–372)


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