Social functioning and emotion recognition in adults with triple X syndrome

Abstract

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 Results Compared with controls, women with TXS scored higher on the Adult Behavior Checklist, including the Withdrawn scale (P 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

Neuropsychological Findings in Adults with Triple X Syndrome

“…In contrast, other groups reported no apparent differences between the conventional pencil-and-paper and computer-based forms of the WCST and similar tests [55]. In addition, both shyness [1] and social impairments [5] have been reported among individuals with TXS. Taken together, these findings suggest that further study is needed in order to determine whether the form of the test affects the results obtained for women with TXS.…”

“…One possible explanation for this difference in results between these two tests may be that we used the conventional -albeit abbreviated -Block Design test in our study, which included time limits and thus implicitly tests processing speed; in contrast, the PAL is less dependent on processing speed. In addition, CANTAB is an automated test battery, whereas the WAIS requires social interactions with the research assistant, which may have affected the results in the TXS group more than in the control group [5]. Visual information processing skills in TXS deserves future research, as it plays an important role in daily life and in choosing a profession [45].…”

“…In general, the ability to recognise ADHD in women is reduced, as women are generally less likely to present with hyperactivity symptoms and co-existing disruptive conditions [49]. Undertreatment in the particular patient population of TXS women may be even larger due to the low self-esteem [50] and poor social skills [5] among women with TXS [51]. Future studies should therefore attempt to determine whether the attention problems in women with TXS are related to the inattentive subtype of ADHD and/or other factors or conditions.…”

“…Thus, the attention deficits and reduced psychomotor speed identified in our study may be explained -at least in part -by altered cerebellar function. Indeed, other features commonly associated with TXS that may be explained by altered cerebellar neurodevelopment include social impairments [5], impaired recognition of negative emotions [5], apraxia of speech [3], and hypotonia [3]. Furthermore, cerebellar subregions that are altered in individuals with an extra X chromosome have been linked to motor control and language processing tests [60].…”

“…In addition, girls and women with TXS have an increased prevalence of psychiatric disorders such as anxiety, depression, and psychotic disorders [4]. Finally, social impairments have been described in both children and adults with TXS [5].…”