Rubinstein-Taybi Syndrome Clinical Characteristics from the Perspective of Quality of Life and the Impact of the Disease on Family Functioning.

Background/Objectives: 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. Methods: 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 PedsQLTM 2.0, the Pediatric Quality of Life PedsQLTM 4.0 were used to obtain data on QOL and the impact of the disease on family functioning. Results: 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 (p < 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). Conclusions: This study provides the first comprehensive exploration of the QOL of children with RSTS) and its impact on family functioning.

Health-related quality of life and family functioning of primary caregivers of children with down syndrome.

Background: Down Syndrome (DS; OMIM #190685), known as trisomy 21, is one of the most common genetic disorders in the human population and the commonest known cause of intellectual disability. The study was conducted to investigate the quality of life (QoL) of children with DS syndrome and its impact on family functioning. Purpose of study: To assess the quality of life of children with trisomy 21 and the impact of the disorder on the family. Methods: We used a cross-sectional questionnaire study. The respondents were 52 parents of children with trisomy 21. The following structured questionnaires were used: the PedsQL™ 4.0 Generic Core Scales, the PedsQL™ Family Impact Module and Study-Specific Questionnaire (SSQ). Results: The combined scores, with a mean value of approximately 55 out of a possible 100 points, indicated a significant impact of the child's genetic defect on family functioning. In the overall QOL, the highest rated domain was physical functioning (x̅ =60.14; SD = 23.82) and the lowest was school functioning (x̅ =51.36; SD = 18.72). Better school functioning (p = 0.022) was reported for girls. The presence of reduced muscle tone also had a negative impact on the child's functioning in the physical (p = 0.036), emotional (p = 0.011), psychosocial (p = 0.027) and overall QOL domains (p = 0.023). Conclusion: Overall, our results showed that the quality of life of children with trisomy 21 is impaired. There was a positive association between the child's QOL and the QOL of their parents, as well as the general functioning of the child's whole family. For this reason, an improvement in the QOL of parents and the family functioning is closely related to an increased QOL of the child. The continuous deepening of knowledge of QOL in individual trisomy 21 management allows for better preparation and ongoing care for the patients concerned.

Determinants Affecting the Rationing of Nursing Care and Professional Burnout among Oncology Nurses.

Rationing of nursing care (RNC) is characterized by the omission of any aspect of the required patient care, resulting in incomplete or delayed nursing activities. Oncology nurses are exposed to a very high psychological burden, which can lead to the development of professional burnout syndrome (PBS). The level of PBS might be related to life and job satisfaction. This study aimed to identify determinants affecting RNC and reveal the relationship between RNC, life and job satisfaction, and the PBS levels among oncology nurses. The sample was a hundred oncology nurses from four hospitals in Poland with a mean age of 43.26 ± 10.69 years. The study was conducted from March 2019 to February 2020. The self-administered sociodemographic questionnaire and validated scales determining missed nursing care, job and life satisfaction, and life orientation were used: Basel Extent of Rationing of Nursing Care-Revised (BERNCA-R), Satisfaction with Job Scale (SWJS), Satisfaction with Life Scale (SWLS), Life Orientation Test-Revised (LOT-R), and Maslach Burnout Inventory (MBI). The mean BERNCA score was 1.55 ± 0.15, which indicates the frequency of RNC was between "never" and "rarely". The mean SWJS score was 11.71 ± 5.97, which showed that nurses were "dissatisfied" and "rather dissatisfied" with their job. A low SWLS score was reported by 59% of nurses, which means that more than half of the respondents described their life satisfaction as low. In LOT-R, 66% of nurses reported pessimistic and 31% neutral life orientation. The mean overall MBI score was 49.27 ± 19.76 points (EE = 63.56 ± 25.37, DEP = 37.2 ± 24.95, and lack of PA = 47.05 ± 22.04), which means that half of the nurses perceived burnout and half did not. Additionally, the higher the job satisfaction (SWJS), the more frequent the RNC (BERNCA) (p < 0.05). The greater the EE, the stronger the sense of lack of PA, and the higher the PBS (MBI) level, the less frequent the RNC (BERNCA). In conclusion, there is a phenomenon of omission of some aspects of care among oncology nurses, but it is not frequent and concerns areas not directly related to therapeutic tasks, but requiring effort and not resulting in quick noticeable effects. It depends only little on life satisfaction and more on job satisfaction and PBS level. The results may indicate the professionalism of Polish nurses, their responsibility towards their patients' life and health, and the sense of mission that enables them to perform their duties regardless of the external and internal difficulties. The presence of the PBS phenomenon in oncology nurses highlights the need for continued research in this area.