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Netherton Syndrome (NS) is a very rare genetic skin disease resulting from defects in the SPINK5 gene (encoding the protease inhibitor lympho-epithelial Kazal type inhibitor 1, LEKTI1). In this report, we provide a detailed clinical description of a Polish patient with two SPINK5 mutations, the novel c.1816_1820+21delinsCT and possibly recurrent c.1431-12G>A. A detailed pathogenesis of Netherton Syndrome, on the basis of literature review, is discussed in the view of current knowledge about the LEKT1 molecular processing and activity.

Introduction. Perinatal asphyxia is a common neonatal problem. It remains a leading cause of neonatal morbidity and mortality and plays a major role in motor and intellectual developmental deficits in children. Complications of cerebral hypoxia in asphyxiated newborns can be treated with therapeutic hypothermia. The treatment involves moderate cooling of the newborn to minimize the consequences of hypoxia. Aim. To evaluate psychomotor development and detect impairments and deficits in motor functions, perception, speech, manual functions and social contacts in children treated with therapeutic hypothermia. Material and Methods. The study was carried out on a group of 27 children treated with therapeutic hypothermia. The data involved an analysis of medical records and the results of psychomotor development evaluation using the Munich Functional Development Diagnostics scale. Results. We found no significant delay in the developmental age of the children for walking. The mean developmental age for this area was 30.56 months (SD=8.42 months), for fine motor skills, speaking, independence and social skills were similar. The mean developmental age for understanding speech was 28.76 months (SD=7.92 months). The mean developmental age for cognitive skills was 27.73 months (Me=28 months). The speech development was slightly delayed for their age (x̅=3.2 months, SD=1.09 months). Conclusions. Children aged up to 1 year showed normal psychomotor development. Small deficits in cognitive processes and social skills were identified in children in the second and third years of life. The greatest developmental delays were identified in children in the fourth, fifth and sixth years of life. (JNNN 2024;13(1):9–16)

BackgroundDown 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 studyTo assess the quality of life of children with trisomy 21 and the impact of the disorder on the family.MethodsWe 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).ResultsThe 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).ConclusionOverall, 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.

Background: In the rooming-in system, mothers and their healthy newborns stay together for 24 h a day; however, many women in the early postpartum period often find it challenging to balance their recovery from childbirth with the demands of caring for their newborns. This study aims to investigate the need for postpartum women to entrust their newborns to medical staff for care, and the relationship of this need with perceived pain, fatigue, and anxiety. Methods: The study uses the Need to Entrust a Newborn under the Care of the Staff (NEN) scale and the Numerical Rating Scale (NRS) to assess participants' levels of pain, fatigue and anxiety. These scales were chosen to provide a comprehensive assessment of participants' needs and experiences. Results: The results of the study reveal that fatigue levels among study participants were significantly high, with an Me of 7.0 (IQR = 4.0), exceeding the reportable levels of both pain (Me = 6.0, IQR = 5.0) and anxiety (Me = 5.0, IQR = 6.0) The need for support during the day and at night was at a similar level and strongly correlated (rho = 0.723; p < 0.001). Pain levels showed a significant positive correlation with the need to entrust the newborn both during the day (rho = 0.296; p < 0.001) and at night (rho = 0.332; p < 0.001). During the daytime, the correlation of fatigue with the need for staff support was rho = 0.423 (p < 0.001), while overnight, this increased to rho = 0.485 (p < 0.001). Anxiety significantly correlated with the need for staff support, both during daytime (rho = 0.422; p < 0.001) and overnight (rho = 0.431; p < 0.001). Multiparas reported significantly lower results of anxiety (U(Z) = −13.224, p < 0.001). Conclusions: The need to entrust newborns to the care of maternity rooming-in staff is strong but is often unmet in many facilities. Further research should be conducted to explore solutions, and plan future actions to alleviate the burdens on postpartum women and facilitate their recovery. [ABSTRACT FROM AUTHOR]

CLOVES syndrome is a rare dysmorphic syndrome with multiple defects caused by somatic activating mutations in the PIK3CA gene on chromosome 3q26.32. There are currently less than 200 individuals worldwide living with CLOVES syndrome (OMIM: 612918, ORPHA: 140944). Due to the extremely low prevalence rate of CLOVES syndrome, few epidemiological data are available in the literature. We report 4-year-old girl with somatic mutation in the PIK3CA gene (c.1357G> A) in fibroblast, revealed in the WES study, confirming the diagnosis of CLOVES syndrome. CLOVES syndrome can be very difficult to diagnose, not only because of its extreme rarity, but also due to symptoms which vary both in range of symptoms and severity. Therefore, the case described by us may be helpful in the correct diagnosis of this rare disease in subsequent cases and makes an important contribution in rare disease diagnostics.

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]

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.

Introduction. Glioblastoma multiforme (GBM) is the most common central nervous system (CNS) malignancy. It is characterized by an aggressive course with the presence of rapidly growing cells, infiltrating the adjacent brain tissues. Case Report. The case report concerns a 16-year-old child with glioblastoma multiforme. The paper presents selected care problems observed in the child. Discussion. In caring for a child diagnosed with high-grade glioma, the most important care problems are severe, recurrent headaches, nausea and vomiting due to chemotherapy, chronic stress and anxiety, as well as a significant decrease in mood, resulting in e.g. social isolation. A nurse caring for a child with glioblastoma should not only focus on activities directly related to medical care, but also provide psychological support, which certainly improves the quality of life of the child and his family. Conclusions. A patient with high-grade glioma has many different types of care problems. Some are problems related to the physical sphere, others concern the psychological and social sphere. (JNNN 2020;9(4):152–159)

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.

Objective Rett syndrome (RTT) is a chronic condition that manifest in young children, with concomitant comorbidities such as respiratory problems, scoliosis, epilepsy, and malnutrition, which may affect children’s quality of life (QoL) and family functioning. The objective of this cross-sectional descriptive correlation study was to understand the clinical presentation of RTT in relation to QoL and family functioning. Methods We included 23 parents of children with RTT. In this study, we used the PedsQL™ Family Impact Module, the Pediatric Quality of Life Inventory 4.0 generic core scales (PedsQL™ 4.0), and an author-designed questionnaire to assess QoL and family functioning. Results A significant relationship was observed between PedsQL™ 4.0 score and child’s age in the physical functioning dimension. Children aged 8 to 12 years demonstrated significantly higher scores than those in the other age groups. Malnutrition in the child significantly affected functioning of the family in the family relationships dimension. Children receiving 5 hours of rehabilitation treatment a week had significantly higher QoL in the school functioning dimension. Conclusions QOL in children with RTT, as perceived by their parents, is reduced. RTT has a significant negative correlation with family functioning.

Introduction. Myasthenia gravis is an autoimmune disease caused by disruption in normal neuromuscular transmission due to the reduction in the number of the acetylcholine receptors. Patients with myasthenia gravis require an individual and comprehensive nursing care to meet the needs of both biological and social nature. Properly undertaken nursing interventions improve the quality of life of patients and allow them to function independently in a daily life. An important issue is cooperation not only with the very patient, but also with their family. Case Report. A case of 57-year-old patient with myasthenia gravis, the dominant muscle weakness in both lower and upper limbs. The weakening of facial muscles and tongue, dysphagia and problems with food intake led to malnutrition and poor health condition. The onset of disease was at the age of 26, on the first day after giving birth. Discussion. Care for patients with myasthenia gravis must be comprehensive, and nursing-therapeutic care should meet individual patient’s needs in accordance with applicable guidelines. Conclusions. The case of the patient with myasthenia gravis allowed to identify the difficulties she struggled with. The main activities of nursing care provided the patient with the feeling of safety, better psychomotor activity and assistance in self-care activities. The knowledge about disease and its complications helped to improve daily functioning and coping with difficult situations. All measures taken in this regard proved to be effective, as they reduced anxiety and weakened the sense of isolation and loneliness. (JNNN 2017;6(2):88–97)

The newborn's pain is often recognized incompetently and what worse even ignored. Pain is part of the body's defense system and alert the organism to possible danger. Human fetuses are capable of feeling pain since 20 weeks of gestation age. The consequences of untreated pain have an effects on the newborn's organism and may lead to complications. A nurse taking care of a newborn should profoundly assess intensity of pain and meticulously document results of her assessment to define effectiveness of move she has taken. Currently there are lots of tools for pain assessment of infants. The recent recommendations emphasize the importance of using pain assessment scales for newborns. The available scales are based on observation and the value of vital signs. The newborn's pain should be treated as additional vital signs. PAT score, commonly used in Australia, is a tool that takes into account all the exponents of pain, in particular draws attention to the perceptual evaluation of the nurse.

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]