Croyé Marie-Anne, Freilinger Petra, Jürgenlimke Hendrik, Domes Gregor, Meyer Jobst
Department of Neurobehavioral Genetics, University of Trier, Johanniterufer 15, 54290, Trier, Germany.
Genetikum, Neu-Ulm, Germany.
J Neurodev Disord. 2025 Jul 23;17(1):41. doi: 10.1186/s11689-025-09631-7.
Triple X syndrome (TXS, 47,XXX) is a sex chromosome aneuploidy affecting females. The condition is associated with cognitive, emotional, and social challenges. While prior research has primarily focused on children, the social and psychological profile of adult women with TXS remains understudied. This study aims to provide a comprehensive assessment of these aspects in adult women with TXS compared to matched controls.
A cohort of 44 women with TXS (mean age 30.5 years) was compared to 50 age- and education-matched controls (mean age 29.7 years). Standardized assessments measured verbal IQ, psychological distress, chronic stress, emotion regulation, coping mechanisms, social anxiety, empathy, autistic traits, and personality traits. Group comparisons were conducted using ANOVAs and MANOVAs, with additional χ² tests for categorical variables.
Depression and trait anxiety did not significantly differ between groups, though both groups exhibited notably high scores. However, a greater number of individuals in the TXS group reported elevated social anxiety and autistic traits, and reduced empathy. Moreover, there were indications of increased self-reported social tensions, personal distress, and somatization within the TXS group. No significant differences were found in personality traits, verbal IQ, chronic stress levels, and emotion regulation. Additionally, TXS participants tended to rely less on the maladaptive coping strategy of alcohol and cigarette consumption.
Our findings underscore autistic traits, social anxiety, and reduced empathy as significant challenges for adult women with TXS. While cognitive and emotional characteristics were largely comparable to those of age- and education-matched controls, the heightened social difficulties suggest a potential benefit of targeted interventions, such as social skills training, to support affected individuals. Longitudinal studies are essential to understand the long-term progression of these challenges and to develop effective therapeutic strategies.
三倍体X综合征（TXS，47，XXX）是一种影响女性的性染色体非整倍体疾病。该病症与认知、情感和社交方面的挑战相关。虽然先前的研究主要集中在儿童身上，但成年TXS女性的社会和心理状况仍未得到充分研究。本研究旨在与匹配的对照组相比，对成年TXS女性的这些方面进行全面评估。
将44名TXS女性（平均年龄30.5岁）与50名年龄和教育程度匹配的对照组（平均年龄29.7岁）进行比较。采用标准化评估来测量言语智商、心理困扰、慢性压力、情绪调节、应对机制、社交焦虑、同理心、自闭症特质和人格特质。使用方差分析（ANOVA）和多变量方差分析（MANOVA）进行组间比较，对分类变量进行额外的卡方检验。
两组之间的抑郁和特质焦虑没有显著差异，尽管两组的得分都明显较高。然而，TXS组中有更多个体报告社交焦虑和自闭症特质升高，同理心降低。此外，有迹象表明TXS组中自我报告的社交紧张、个人困扰和躯体化增加。在人格特质、言语智商、慢性压力水平和情绪调节方面未发现显著差异。此外，TXS参与者较少依赖饮酒和吸烟这种适应不良的应对策略。
我们的研究结果强调自闭症特质、社交焦虑和同理心降低是成年TXS女性面临的重大挑战。虽然认知和情感特征在很大程度上与年龄和教育程度匹配的对照组相当，但社交困难加剧表明有针对性的干预措施（如社交技能培训）可能有助于支持受影响的个体。纵向研究对于了解这些挑战的长期发展以及制定有效的治疗策略至关重要。
