Rozensztrauch Anna, Basiak Aleksander, Twardak Iwona
Division of Paediatrics and Coordinated Child Care, Wroclaw Medical University, 50-367 Wrocław, Poland.
Department of Pediatrics, Endocrinology, Diabetology and Metabolic Diseases, Wroclaw Medical University, 50-367 Wrocław, Poland.
J Clin Med. 2024 Sep 2;13(17):5210. doi: 10.3390/jcm13175210.
: Rubinstein-Taybi Syndrome (RSTS-OMIM, #180849) is a rare genetic disorder associated with distinctive clinical features, including a typical craniofacial appearance, global developmental delay, intellectual disability and broad, angular thumbs and fingers. The main aim of the study was to evaluate the health problems of children with RTST, their quality of life and the impact of the disease on family functioning. In addition, we investigate whether comorbidities, autistic behavior and eating problems affect the children's overall QOL. : A cross-sectional study was performed, including a total of 13 caregivers of children diagnosed with RSTS. A self-reported questionnaire [SRQ], medical records and the Pediatric Impact Module PedsQL 2.0, the Pediatric Quality of Life PedsQL 4.0 were used to obtain data on QOL and the impact of the disease on family functioning. : The overall QOL score for children with RSTS was x = 52.40; SD 13.01. The highest QOL was in emotional functioning (EF; x = 59.23; SD 18.69), while the lowest QOL was in physical functioning (PF; x = 48.56; SD 16.32) and social functioning (SF; x = 48.85; SD 18.84). There was a statistically significant negative correlation ( < 0.03; r = -2.01) between the age of the child and their QOL, indicating that older children had lower QOL scores. The mean overall rating for the impact of RSTS on family functioning was x = 50.00; SD 10.91. Caregivers reported the highest scores for cognitive functioning (CF; x = 64.23; SD 23.70) and family relationships (FR; x = 60.00; SD 17.17). The lowest scores were for daily activities (DA; x = 41.03; SD 17.17) and worry (W; x = 37.69; SD 18.55). : This study provides the first comprehensive exploration of the QOL of children with RSTS) and its impact on family functioning.
鲁宾斯坦-泰比综合征（RSTS-OMIM，#180849）是一种罕见的遗传性疾病，伴有独特的临床特征，包括典型的颅面外观、全面发育迟缓、智力残疾以及宽阔的拇指和手指。本研究的主要目的是评估患有鲁宾斯坦-泰比综合征儿童的健康问题、他们的生活质量以及该疾病对家庭功能的影响。此外，我们调查了合并症、自闭症行为和饮食问题是否会影响儿童的总体生活质量。进行了一项横断面研究，共纳入13名被诊断为鲁宾斯坦-泰比综合征儿童的照料者。使用一份自我报告问卷[SRQ]、病历以及儿童影响模块儿童生活质量量表PedsQL 2.0和儿童生活质量量表PedsQL 4.0来获取有关生活质量以及该疾病对家庭功能影响的数据。鲁宾斯坦-泰比综合征儿童的总体生活质量得分为x = 52.40；标准差为13.01。生活质量最高的是情感功能（EF；x = 59.23；标准差为18.69），而最低的是身体功能（PF；x = 48.56；标准差为16.32）和社会功能（SF；x = 48.85；标准差为18.84）。儿童年龄与其生活质量之间存在统计学上显著的负相关（<0.03；r = -2.01），这表明年龄较大的儿童生活质量得分较低。鲁宾斯坦-泰比综合征对家庭功能影响的平均总体评分为x = 50.00；标准差为10.91。照料者报告认知功能（CF；x = 64.23；标准差为23.70）和家庭关系（FR；x = 60.00；标准差为17.17）得分最高。得分最低的是日常活动（DA；x = 41.03；标准差为17.17）和担忧（W；x = 37.69；标准差为18.55）。本研究首次全面探讨了鲁宾斯坦-泰比综合征儿童的生活质量及其对家庭功能的影响。
