BACKGROUND Depressive symptomology and low affect are comparatively common in individuals with genetic disorders such as Cornelia de Lange syndrome. However, lifespan trajectories and associated person characteristics have not been examined. In this study, the trajectories for affect and associated behavioural characteristics were investigated in individuals with Cornelia de Lange syndrome with individuals with fragile X syndrome (FXS) comparable for chronological age and total number of behavioural indicators of ASD included for the purpose of contrast. METHODS A 7-year longitudinal study of affect (mood, interest and pleasure) was conducted in individuals with CdLS (n = 44) and FXS (n = 95). The trajectories of low affect were explored, as well as associations between Time 1 behavioural characteristics and affect at Time 1 and Time 3 (7 years later). RESULTS The CdLS group were lower in mood than the FXS group overall (p < .001). Interest and pleasure scores showed a significant decline over the lifespan for individuals with CdLS (p < .001) but not the FXS group. Lower level of ability at Time 1 was associated with lower mood at Time 1 and Time 3 in the FXS group only. Higher levels of ASD symptomology at Time 1 were associated with low mood and interest and pleasure in both syndrome groups at Time 1 and Time 3. Greater insistence on sameness at Time 1 was associated with lower mood at Time 1 in the FXS group and lower interest and pleasure at Time 1 and Time 3 in the CdLS group. CONCLUSIONS Low affect in specific genetic syndromes may be associated with differing lifespan trajectories and behavioural profiles. Specifically, individuals with CdLS appear at risk for experiencing declines in levels of interest and pleasure whereas individuals with FXS show no significant change in the level of affect with age.

中文翻译：

---

Cornelia de Lange综合征的影响寿命轨迹：朝着神经生物学假设的方向发展。

背景技术抑郁症症状和低影响在患有遗传性疾病例如Cornelia de Lange综合征的个体中相对常见。但是，寿命轨迹和相关的人格特征尚未得到检验。在这项研究中，调查了Cornelia de Lange综合征患者与易碎X综合征（FXS）患者的情感轨迹和相关行为特征，该年龄与年龄相近，并且出于对比目的，包括了ASD行为指标总数。方法对患有CdLS（n = 44）和FXS（n = 95）的个体进行了为期7年的纵向情感（情绪，兴趣和愉悦）纵向研究。探索了低情感的轨迹，以及时间1的行为特征与在时间1和时间3（7年后）的影响之间的关联。结果CdLS组的情绪总体上低于FXS组（p <.001）。兴趣和愉悦度得分显示CdLS个体的生命周期显着下降（p <.001），但FXS组却没有。仅在FXS组中，时间1的能力水平较低与时间1和时间3的情绪低落相关。在时间1和时间3的两个综合症组中，时间1的ASD症状较高与情绪低落，兴趣和愉悦相关。在时间1，对FXS组的较高的坚持相同性与情绪低落和兴趣较低相关。 CdLS组中时间1和时间3的娱乐性。结论对特定遗传综合征的低影响可能与不同的寿命轨迹和行为特征有关。具体来说，患有CdLS的人似乎有兴趣和愉悦感下降的风险，而具有FXS的人则没有随着年龄的增长而出现显着变化。