背景:皮特-霍普金斯综合征(PTHS)是一种罕见的遗传性疾病,影响精神运动,社会,和智力发展,由TCF4基因突变引起的.该研究旨在收集来自波兰的PTHS患者的表型和基因型数据,并评估生活质量(QoL)以及疾病对家庭的影响。方法:有8个PTHS的家庭参与了这项研究。为了获取数据,使用以下标准化问卷:临床问题问卷(QCP),PedsQL™系列影响模块,和QL-残疾问卷。此外,临床检查的回顾性分析,遗传咨询,病史,并对每个个体进行基因型分析。结果:所有受检儿童均表现出TCF4基因突变和PTHS的典型特征。研究组中最常见的临床症状包括典型的PTHS外观,智力残疾(n=5;因为其余患者年龄太小,无法评估),言语发育异常(n=8),疼痛反应减少(n=7),便秘(n=7),流口水(n=7),寒冷的四肢(n=7),和感觉统合过程的障碍(n=7)。QL-残疾问卷显示PTHS儿童的总QoL评分为67.7/100,而PedsQL家庭影响模块中他们家庭的QoL为53.82/100。评价最高的领域是认知功能(中位数(Me)=67.50;标准偏差(SD)=21.95),而最低的是日常活动(Me=25.00;SD=29.86)。结论:该研究允许收集有关居住在波兰的PTHS儿童的表型和基因型的数据。总的来说,我们的研究表明,PTHS儿童的QoL受损。
Background: Pitt-Hopkins syndrome (PTHS) is a rare genetic disorder affecting psychomotor, social, and intellectual development, caused by a mutation in the TCF4 gene. The study aims to gather the phenotype and genotype data of PTHS patients from Poland and to assess the quality of life (QoL) and the impact of the disorders on the family. Methods: Eight families with PTHS participated in the study. To obtain data, the following standardized questionnaires were used: Questionnaire on Clinical Problems (QCP), the PedsQL™ Family Impact Module, and the QL-Disability Questionnaire. Additionally, a retrospective analysis of clinical examination, genetic consult, medical history, and genotype of each individual was performed. Results: All of the examined children exhibited a mutation in the TCF4 gene and typical features of PTHS. The most prevalent clinical symptoms in the study group included typical PTHS appearance, intellectual disability (n = 5; as the rest of the patients were too young to be assessed), abnormal speech development (n = 8), reduced pain response (n = 7), constipation (n = 7), drooling (n = 7), cold extremities (n = 7), and disturbances in sensory integration processes (n = 7). The QL-Disability Questionnaire revealed a total QoL score of 67.7/100 for children with PTHS, while the QoL for their families in the PedsQL Family Impact Module was 53.82/100. The highest-rated domain was cognitive functioning (Median (Me) = 67.50; Standard Deviation (SD) = 21.95), while the lowest was daily activities (Me = 25.00; SD = 29.86). Conclusions: The study allowed the collection of data on the phenotype and genotype of children with PTHS living in Poland. Overall, our study showed that the QoL of children with PTHS is impaired.