Aim: This study reports the reliability and validity of the Polish version of the Esophageal Atresia Quality of Life (EA-QOL) questionnaires, which were originally developed in Sweden and Germany. Methods: A total of 50 families of children (23 aged 2 to 7, and 27 aged 8 to 17) with EA/TEF (esophageal atresia/tracheoesophageal fistula) participated in the study. The development and validation of the Polish version of the EA-QOL involved forward-backward translation of the survey items following the guidelines for cross-cultural translation, cognitive debriefing and evaluation of psychometric properties, including assessment of internal and retest reliability, linguistic validity, content validity, known-group validity and convergent validity. The medical records of patients and standardized questionnaires were used to obtain clinical data. The level of significance was p < 0.05. Results: The Polish versions of the EA-QOL questionnaires demonstrated strong linguistic and content validity, are slightly discriminative for esophageal and respiratory problems, but do not show convergent validity with the PedsQL 4.0 generic core scales. In terms of reliability, the internal consistency of the subscale and total scale of Polish versions as measured by Cronbach’s alpha is good, and retest reliability is excellent. Conclusions: The Polish versions of the EA-QOL questionnaires meet most psychometric criteria that confirm the EA-QOL questionnaires’ reliability and validity. This study enables application of these questionnaires in future research among children with EA in Poland and participation in international multicenter studies focusing on advancing knowledge of condition-specific QOL in this population. Future cross-cultural research using larger sample sizes is still needed to better address the relationship between condition-specific and generic QOL, as well as the discriminative ability of the EA-QOL questionnaires.

Germline variants in tumor necrosis factor receptor-associated factor 7 (TRAF7) gene have recently been described in about 50 patients with developmental delay and cardiac, facial, and digital anomalies (CAFDADD). We aimed to depict further the clinical and genetic spectrum associated with TRAF7 germline variants in two additional patients, broaden the mutational spectrum, and support the characteristic clinical variety to facilitate the diagnostics of the syndrome among physician involved in the evaluation of patients with developmental delay/congenital malformations.

Psychomotor delay, hypotonia, and intellectual disability, as well as heart defects, urogenital malformations, and characteristic cranio-facial dysmorphism are the main symptoms of dysmorphic syndrome associated with intergenic deletion in the Xq24 chromosome region including the UBE2A and CXorf56 genes. To date, there is limited information in the literature about the symptoms and clinical course of the Xq24 deletion. Here, we present a case of Xq24 deletion including the UBE2A and CXorf56 genes in a nine-year-old boy, in whom the array comparative genomic hybridization (array-CGH) and whole exome sequencing (WES) tests were performed in 2015 with normal results. The WES results were reanalyzed in 2019. Intergenic, hemizygous deletion in the Xq24 chromosome region including the UBE2A and CXorf56 genes was revealed and subsequently confirmed in the array-CGH study as the deletion of 35kb in the Xq24 region. Additionally, the carriership of deletion in the mother of the child was confirmed.

The MYCN oncogene encodes a transcription factor belonging to the MYC family. It is primarily expressed in normal developing embryos and is thought to be critical in brain and other neural development. Loss-of-function variants resulting in haploinsufficiency of MYCN, which encodes a protein with a basic helix–loop–helix domain causes Feingold syndrome (OMIM 164280, ORPHA 391641). We present an occurrence of esophageal atresia (EA) with tracheoesophageal fistula in siblings from a three-generation family affected by variable expressivity of MYCN mutation p.(Ser90GlnfsTer176) as a diagnostic effect of searching the cause of familial esophageal atresia using NGS-based whole-exome sequencing (WES). All of our affected patients showed microcephaly and toe syndactyly, which were frequently reported in the literature. Just one patient exhibited clinodactyly. None of the patients exhibited brachymesophalangy or hypoplastic thumbs. The latest report noted that patients with EA and Feingold syndrome were also those with the more complex and severe phenotype. However, following a thorough review of the present literature, the same association was not found, which is also confirmed by the case we described. The variable phenotypic expression of the patients we described and the data from the literature guide a careful differential diagnosis of Feingold syndrome even in cases of poorly expressed and non-specific symptoms.

Background The World Health Organization identifies exclusive breastfeeding as the gold standard for child nutrition. Breastfeeding provides many benefits to both the baby and the mother. First days after birth are crucial for breastfeeding and determining its further path. Unfortunately, very often it is also the time of facing the first breastfeeding problems. The aim of this study was to analyse selected factors influencing a mother’s decision to breastfeed. Methods This is a cross-sectional study conducted between March 2019 and November 2019 in selected Polish maternity wards. Data were collected through completion of author’s questionnaire and a standardised questionnaire and the Multidimensional Perceived Social Support Scale and also through informal interviews with mothers. During statistical analysis, the chi-square test of independence and the Kolmogorov–Smirnov test as well as the non-parametric Mann–Whitney U test in addition to Fisher’s exact test were performed. Results The results showed that there is no correlation between the mode of delivery and the mother’s choice of infant feeding method. Knowledge of the benefits of breastfeeding and received support affects the mother’s decision on infant feeding method. The study also showed that the 83% of newborns were put to the breast within the first 2 h after birth. However, only 58% continued to be breastfed in the subsequent days. As many as 42% of the newborns were supplemented with formula despite early initiation of breastfeeding. Analyses showed that exclusive breastfeeding was more often chosen by mothers with higher education. And the most common breastfeeding problem reported by 62% of the respondents was perceived insufficient milk supply and also breastfeeding pain, reported in 48.5% mothers. Conclusions It is extremely important to continually promote breastfeeding among women. The role of midwives is crucial in this regard, as they should encourage the initiation of breastfeeding, support mothers during the perinatal and postnatal periods, and increase their sense of competence and confidence in their ability to breastfeed. Accessible, professional, and empathetic support can help reduce the number of women supplementing with modified milk. Undoubtedly, the postpartum period is important for breastfeeding outcomes, but it is significant that breastfeeding education and promotion begin during pregnancy.