背景:CorneliadeLange综合征(CdLS)是一种罕见的多畸形遗传病,涉及多系统。尽管有大量的临床和分子研究,对生活质量(QoL)的具体评估及其与综合征特异性危险因素的关系尚未进行探讨.
方法:33名诊断为CdLS的个体的QoL,年龄在4至21岁之间,使用Kidslife问卷进行评估。具体来说,分析了14个危险因素对总体QoL及其8个领域的影响。
结果:研究显示QoL低于中位数(45.3百分位数),受影响最大的领域是身体健康,个人发展,和自决。在根据患者的QoL和受影响的领域对患者进行分类时,NIPBL基因的变异,临床评分≥11分,严重的行为和沟通问题被发现是主要的危险因素。
结论:我们强调需要一种全面的CdLS方法,包括临床,分子,社会心理,和情感方面。“Kidslife问卷”被证明是评估QoL的有用工具,危险因素,以及实施战略的有效性。在这项研究中,我们强调实施纠正措施以提高临床评分的重要性.此外,我们强调了在排除疼痛或胃食管反流等根本原因并采取促进交流和促进社交互动的措施后,对行为问题应用特定疗法的必要性。
BACKGROUND: Cornelia de Lange syndrome (CdLS) is a rare polymalformative genetic disorder with multisystemic involvement. Despite numerous clinical and molecular studies, the specific evaluation of the quality of life (QoL) and its relationship with syndrome-specific risk factors has not been explored.
METHODS: The QoL of 33 individuals diagnosed with CdLS, aged between 4 and 21 years, was assessed using the Kidslife questionnaire. Specifically, the influence of 14 risk factors on overall QoL and 8 of its domains was analyzed.
RESULTS: The study revealed below-median QoL (45.3 percentile), with the most affected domains being physical well-being, personal development, and self-determination. When classifying patients based on their QoL and affected domains, variants in the NIPBL gene, clinical scores ≥11, and severe behavioral and communication issues were found to be the main risk factors.
CONCLUSIONS: We emphasize the need for a comprehensive approach to CdLS that encompasses clinical, molecular, psychosocial, and emotional aspects. The \"Kidslife questionnaire\" proved to be a useful tool for evaluating QoL, risk factors, and the effectiveness of implemented strategies. In this study, we underscore the importance of implementing corrective measures to improve the clinical score. Furthermore, we highlight the necessity of applying specific therapies for behavioral problems after ruling out underlying causes such as pain or gastroesophageal reflux and implementing measures that facilitate communication and promote social interaction.