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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. [ABSTRACT FROM AUTHOR]

Background: Menkes disease (MD; OMIM #309400) is a progressive neurodegeneration that results from abnormalities in the copper metabolism which are already present before birth. It is an extremely rare condition. The study was conducted to assess the quality of life of children with MD syndrome and the impact of the disease on family functioning. Methods: A cross-sectional questionnaire survey was used. The subjects were 16 parents of children with MD. The method used was the Paediatric Quality of Life Inventory and the PedsQL Family Impact Module and the author's own questionnaire. Results: Quality of life (QOL) was 29.14 (SD = 14.73), with the lowest for physical functioning (M = 10.55; SD = 10.26) and highest for emotional functioning (M = 48.13; SD = 29.43). The highest score was on the family relationships domain (M = 56.25, SD = 20.38) and the cognitive functioning domain (M = 50.00, SD = 19.24) and the lowest was on the daily activities' domain (M = 32.29, SD = 20.38) and the physical functioning domain (M = 39.84, SD = 14.90). The analysis did not show statistically significant relationships between age (p = 0.193) and the number of epileptic seizures a week (p = 0.641) and the overall QOL of the children studied. No statistically significant relationships were found between treatment with copper histidine and the overall QOL of the children (p = 0.914) and in physical functioning (p = 0.927), emotional functioning (p = 0.706), and social functioning (p = 0.751). The presence of comorbidities did not have an influence on the overall QOL. Conclusions: MD has a moderate impact on the functioning of the families of the affected children. The age of the child, number of epileptic seizures a week, feeding method (oral feeding or feeding via a PEG tube), and treatment with copper histidine do not have a significant impact on the QOL of children with MD. [ABSTRACT FROM AUTHOR]

Objective: The aim of the study was to perform translation and cultural adaptation, as well as to assess the validity and reliability of the Polish version of the Neonatal Extent of Work Rationing Instrument (NEWRI) questionnaire for evaluating care rationing in neonatal intensive care units (NICUs) in Poland. Material and methods: Participants were prospectively recruited at the University Clinical Hospital in Wroclaw, Poland, and the study conducted from January 2018 - June 2018. The adaptation process involved translation of survey items following the guidelines for cross-cultural translation and evaluation of psychometric properties, as well as an assessment of construct validity, reliability, and internal consistency of the NEWRI using Cronbach's alpha. Results: 113 professionally active nurses (n=90) and midwives (n=23) were enrolled in the study. Cronbach's alpha for the entire instrument was 0.982. Results for subscales: life support and technology-oriented nursing care - Cronbach's alpha - 0.95, parental support and teaching and infant comfort care - 0.95, patient surveillance - 0.92, care coordination and discharge planning - 0.79. All items of the questionnaire were found to have a positive discriminatory power. Conclusions: The present findings indicate a high level of reliability and validity of the translated questionnaire, fully comparable to that of the original. The questionnaire can be used for evaluating care rationing in NICUs. [ABSTRACT FROM AUTHOR]

Copyright of Modern Nursing & Health Care / Wspolczesne Pielegniarstwo i Ochrona Zdrowia is the property of Wydawnictwo Continuo and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Modern Nursing & Health Care / Wspolczesne Pielegniarstwo i Ochrona Zdrowia is the property of Wydawnictwo Continuo and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Introduction:  Esophageal atresia (EA) is one of the most frequent congenital malformations of the gastrointestinal tract. The aim of the study was to assess surgical treatment results in the context of the quality of life (QoL) of children after correction of EA.Materials and Methods:  The data were collected among 73 patients after surgery of EA. The work diagnostic survey method was applied using authors' own questionnaire and standardized questionnaire, the PedsQL 4.0 generic core scales. Analysis of children growth was done based on World Health Organization percentile charts for body height and weight. Medical background for each patient, including demographic data, type of EA, type of delivery, the age of gestation, associated anomalies, mode of repair-primary and subsequent, if applicable, was collected from clinical records. Additional anomalies were divided into cardiac, skeletal, respiratory, renal, central nervous system, and other malformations (VACTERL association, CHARGE syndrome, trisomy chromosomes 18 and 21, and others).Results:  In this study, 23% of children in the study group weighted below third percentile, 36% were born between 33rd and 37th week of gestation; 56% had at least one associated congenital anomalies. The QoL of children born before 37th week of gestational age was lower (p < 0.034) in social functioning than children born in term. The presence of concomitant anomalies does affect the overall generic QoL. No statistical correlation was found between the type of anomaly (with/without TEF) and patients' QoL.Conclusion:  It seems to be needed to extend psychological care of premature infants with EA. [ABSTRACT FROM AUTHOR]

Mechanical ventilation of the newborn after congenital esophageal atresia is extremely demanding, and its efficacy is important in the recovery process of the baby. Nursing requires assiduous attention, vigilance and careful neonatal care in accordance with the minimal handling principle. The aim of the study is to discuss the most important aspects of intensive neonatal therapy of a newborn with congenital esophageal atresia. [ABSTRACT FROM AUTHOR]

Copyright of Modern Nursing & Health Care / Wspolczesne Pielegniarstwo i Ochrona Zdrowia is the property of Wydawnictwo Continuo and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Modern Nursing & Health Care / Wspolczesne Pielegniarstwo i Ochrona Zdrowia is the property of Wydawnictwo Continuo and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Objective: The aim of the study was to perform translation and cultural adaptation, as well as to assess the validity and reliability of the Polish version of the Neonatal Extent of Work Rationing Instrument (NEWRI) questionnaire for evaluating care rationing in neonatal intensive care units (NICUs) in Poland., Material and Methods: Participants were prospectively recruited at the University Clinical Hospital in Wroclaw, Poland, and the study conducted from January 2018 - June 2018. The adaptation process involved translation of survey items following the guidelines for cross-cultural translation and evaluation of psychometric properties, as well as an assessment of construct validity, reliability, and internal consistency of the NEWRI using Cronbach's alpha., Results: 113 professionally active nurses (n=90) and midwives (n=23) were enrolled in the study. Cronbach's alpha for the entire instrument was 0.982. Results for subscales: life support and technology-oriented nursing care - Cronbach's alpha - 0.95, parental support and teaching and infant comfort care - 0.95, patient surveillance - 0.92, care coordination and discharge planning - 0.79. All items of the questionnaire were found to have a positive discriminatory power., Conclusions: The present findings indicate a high level of reliability and validity of the translated questionnaire, fully comparable to that of the original. The questionnaire can be used for evaluating care rationing in NICUs.