Children, Volume 10, Issue 12 (December 2023) – 106 articles

Background: The optimal conditioning regimen of tandem high-dose chemotherapy (HDC) and autologous stem cell transplantation (ASCT) for high-risk neuroblastoma (HR-NBL) has not been established. The efficacy of ¹³¹I-MIBG therapy is under exploration in newly diagnosed HR-NBL patients. Here, we compared the outcomes of tandem HDC/ASCT between the ¹³¹I-MIBG combination and non-MIBG groups. Methods: We retrospectively analyzed the clinical data of 33 HR-NBL patients who underwent tandem HDC/ASCT between 2007 and 2021 at the Seoul National University Children’s Hospital. Results: The median age at diagnosis was 3.6 years. ¹³¹I-MIBG was administered to 13 (39.4%) of the patients. Thirty patients (90.9%) received maintenance therapy after tandem HDC/ASCT, twenty-two were treated with isotretinoin ± interleukin-2, and eight received salvage chemotherapy. The five-year overall survival (OS) and event-free survival (EFS) rates of all patients were 80.4% and 69.4%, respectively. Comparing the ¹³¹I-MIBG combined group and other groups, the five-year OS rates were 82.1% and 79.7% (p = 0.655), and the five-year EFS rates were 69.2% and 69.6% (p = 0.922), respectively. Among the adverse effects of grade 3 or 4, the incidence of liver enzyme elevation was significantly higher in the non-¹³¹I-MIBG group. Conclusions: Although tandem HDC/ASCT showed promising outcomes, the ¹³¹I-MIBG combination did not improve survival rates. Full article

The noninvasive neurally adjusted ventilatory assist (NIV-NAVA) is a newly developed noninvasive ventilation technique with promising clinical and ventilatory outcomes for preterm infants. This systematic review and meta-analysis aimed to investigate whether NIV-NAVA has better clinical and ventilatory outcomes than nasal continuous airway pressure (NCPAP) or noninvasive positive pressure ventilation (NIPP) on premature infants. MEDLINE, Embase, and CENTRAL were searched, and randomized controlled trials (RCTs) that compared NIV-NAVA with NCPAP or NIPP for preterm infants (gestational age: <37 weeks) were included. We evaluated the following outcomes in the neonatal intensive care unit: the desaturation rate, failure of noninvasive modality requiring intubation when received as the primary mode or the need for re-intubation after extubation from mechanical ventilation in the secondary mode (weaning), length of stay, and fraction of inspired oxygen. The mean difference and risk ratio were used to represent continuous and dichotomous outcomes, respectively. We included nine RCTs involving 339 preterm infants overall. NIV-NAVA showed similar clinical and ventilatory outcomes to NCPAP or NIPP, except for the maximum diaphragmatic electrical activity. The rate of failure of the noninvasive modality was not statistically different between NIV-NAVA and NCPAP. The pooled estimates for the maximum electrical activity were significantly reduced in NIV-NAVA compared with those in NIPP. The findings suggest that NIV-NAVA may be as safe and effective as NCPAP and NIPP for preterm neonates, particularly those who may not tolerate these alternative noninvasive methods. However, further trials are recommended for greater evidence. Full article

Introduction: Prophylactic paracetamol for extremely low gestation age neonates (ELGAN, <27 weeks’ gestation) with symptomatic patent ductus arteriosus (sPDA) in high-income countries (HIC) reduces medical and surgical interventions. Its effectiveness in low-to-middle-income countries (LMIC) remains uncertain. This study assesses prophylactic paracetamol’s impact on sPDA interventions in ELGANs in an LMIC. Methods: This is a retrospective cohort study that compared a historical cohort of ELGANs that were treated with oral ibuprofen or intravenous paracetamol after diagnosis of sPDA (n = 104) with infants (n = 76) treated with prophylactic paracetamol (20 mg/kg loading, 7.5 mg/kg qid for 4 days), in a tertiary neonatal intensive care unit (NICU) in Vietnam. Oral ibuprofen or intravenous therapeutic paracetamol were administered if prophylactic paracetamol failed to close sPDA. Surgical ligation was conducted if targeted medical intervention failed, or the infant deteriorated from conditions attributable to sPDA. Results: In the historical cohort, 57 (55%) infants died within 7 days of life compared to 18 (24%) from the prophylactic cohort (p < 0.01). Of the survivors, 21 (45%) of the historical and 23 (39.7%) of the prophylactic cohort required surgical ligation (p = 0.6). Duration of hospitalization for survivors was lower in the prophylactic cohort (mean 74 vs. 97 days, p = 0.01). In the prophylactic cohort, 24 (41%) infants did not need further treatment while 34 (59%) required further treatment including ibuprofen and/or paracetamol 28 (48%) and surgical ligation 22 (38%). Conclusions: Prophylactic paracetamol for ELGAN in LMIC does not reduce the need for surgical ligation, sPDA rates, and other PDA-related morbidities in infants who survive beyond 7 days of age. It may reduce the risk of death and the duration of hospitalization but further study into the reasons behind this need to be determined with larger studies. Full article

Type 1 diabetes (T1DM) is a public health issue for children, young people, and families (CYPF) and requires innovative interventions. The DigiBete app is a self-management and educational app to help CYPF and healthcare professionals (HCPs) manage T1DM, featuring educational advice and resources such as guidance, quizzes, and educational and instructional videos on how to manage T1DM. To assess the impact and implementation of the app, the service-level evaluation deployed a mixed-methods design. App data were captured via the DigiBete platform and an online survey with a non-probability sample of HCPs (N = 178) and CYPF (N = 1165) = 1343. Overall, 55.7% (n = 512/919) of app users were female, and 4855 videos were viewed across the participating areas, with an average of 1213 videos per site (range 776–1679) and 4.4 videos per app user. The most popular videos were how to give a glucagon injection and “My Sick Day Rules”, which showed what to do when CYPF were unwell due to T1DM. Interviews (n = 63) were undertaken with 38 CYPF and 25 HCPs. The findings indicate that CYPF and HCPs found the app an essential tool in the management of T1DM. CYPF and HCPs felt the app provided a valuable educational resource in a central location that was invaluable in an emergency or unknown situation. The app was a trusted and bona-fide source of information that could be accessed at any time. HCPs validated DigiBete in helping CYPF to manage their T1DM. At the same time, the app saved HCPs’ service time and money and helped CYPF take back some of the control in managing their diabetes. Full article

Home environments of infants exposed to poverty exhibit fewer affordances for child development. This study aimed to investigate the association between contextual factors and affordances in the home environments of infants facing poverty. Term infants (n = 128) were divided into two groups: (1) exposed group (EG), comprising term infants exposed to poverty, and (2) comparison group (CG), consisting of term infants classified with medium and high socio-economic status. The main dependent variables were physical space, variety of stimulation, gross and fine motor toys, and the total score; measured using the Brazilian version of the Affordances in the Home Environment for Motor Development-Infant Scale (AHEMD-IS) questionnaire, named Affordances no Ambiente Domiciliar para o Desenvolvimento Motor-Escala Bebê. Statistical analysis employed independent sample t-tests or Mann–Whitney tests, chi-square tests, and stepwise multiple linear regression models to evaluate predictors of less adequate home environments. The EG presented significantly fewer affordances in gross motor toys (Cohen’s r = 0.353; p < 0.01); fine motor toys (Cohen’s r = 0.327; p < 0.01); and total score (Cohen’s r = 0.377; p < 0.01). Binary logistic regression analysis showed a significant association (r² = 0.828, p < 0.01) between the less than adequate home environment category and maternal age (p = 0.043, OR: 0.829 (0.692–0.994)), revealing that maternal age was associated with better quantity and quality of affordances for child development. Full article

Surgical treatment is indicated for hip dislocation in patients with cerebral palsy (CP), but it requires care due to the state of nutrition and associated clinical comorbidities. The use of resources that minimize blood loss and the need for blood transfusions are essential to avoid complications. Tranexamic acid (TXA) has been highlighted for orthopedic surgeries to control intraoperative bleeding; however, there is a lack of large studies for its use in hip surgeries in patients with CP. This study aims to evaluate the efficacy and safety of tranexamic acid to reduce bleeding in pediatric patients with cerebral palsy undergoing surgical treatment for hip instability. A sample of 31 patients with CP who underwent surgical treatment for hip dislocation (hip adductor stretching, varization osteotomy of the proximal femur and acetabuloplasty using the Dega technique) was randomly divided into groups: control (n = 10) and TXA (n = 21). Preoperative and 24 h hemoglobin concentrations, the length of hospital stay (LHS), and intraoperative bleeding (IB) were analyzed. TXA significantly reduced the IB (p = 0.02). The variance in hemoglobin concentration was lower for the TXA group, but without statistical significance (p = 0.06). There was no difference in LHS. Also, no statistical difference was observed for the number of transfusions (p = 0.08). The findings provide evidence of the effectiveness of TXA in decreasing intraoperative bleeding and its safety for use in pediatric patients with cerebral palsy. Full article

Introduction: The selection of an appropriate PROM is a crucial aspect in assessing outcomes. Questionnaires that have not been designed or validated for a paediatric population are routinely used. Using a questionnaire requires translation, cultural adaptation, and testing the psychometric properties of the translated questionnaire. There is no applicable questionnaire in our country for children with knee-specific conditions in sports orthopaedics. Therefore, this study aims to translate, culturally adapt, and assess the psychometric properties of the Paediatric IKDC (Pedi-IKDC) questionnaire within the Lithuanian paediatric population. Methods: The translation was conducted in accordance with international standards. Patients aged 11–17 years with various knee disorders participated in three surveys and completed the Pedi-IKDC, Lysholm, and PedsQL questionnaires. Interviews with patients following the translation process, in addition to floor and ceiling effects, were used to assess content validity. Cronbach alpha (α) statistics and the intraclass correlation coefficient (ICC) were applied to measure internal consistency and reproducibility, respectively. The standard error of measurement (SEM) and smallest detectable change (SDC) were calculated to assess reliability. Pearson correlations were calculated between Pedi-IKDC and Lysholm PedsQL scores to determine criteria validity. The effect size (ES) and standardised response mean (SRM) were calculated to assess the responsiveness to change. Results: Cronbach’s alpha (α) was 0.91 for the total score, 0.75 for symptoms, and 0.92 for the sport/function component. The ICC for overall scores was 0.98, with each question ranging from 0.87 to 0.98. The SEM was 2.97, and the SDC was 8.23. Lysholm and PedsQL physical functioning domain scores had moderate correlations (0.8 > r > 0.5), and the overall PedsQL score had a weak correlation (0.5 > r > 0.2) to the Pedi-IKDC score. The floor and ceiling effects were 3.3% and 1.6%, respectively. The SRM was 1.72 and the ES was 1.98. Conclusions: The Lithuanian Pedi-IKDC version is an appropriate evaluation instrument for assessing outcomes in children with knee disorders. All of the psychometric features produced acceptable results. Full article

Background: This paper describes the outcomes of an integrated health promotion programme implemented in a Hungarian high school offering health education in the curriculum, daily optional physical education, teacher training in applying a person-centered approach in teaching, and parental involvement in school activities. Methods: The evaluation used mixed methods of which results of the before-6-months-after quantitative survey among pupils is described. The health status and behaviour of students were assessed by applying the Hungarian version of the HBSC questionnaire. Results: Significant improvement was found in the self-rated health of girls (6.6% increase in being of excellent health, p = 0.04), and the consumption of sweets and sugary soft drinks decreased significantly for both genders (boys: −10.2%, p = 0.01; girls: −6.06%, p = 0.04). However, the proportion of physically inactive girls significantly increased (girls: 11.2%, p = 0.01), and substance use did not change significantly. Discussion and conclusions: The intervention had significant positive impacts on subjective health and dietary habits and could counteract the secular trend of increasing tobacco, alcohol, and drug consumption by age among adolescents, but this unfortunately does not include physical inactivity. Offsetting the most widespread health risk behavior, physical inactivity, may require mandatory daily physical education in schools. Full article

Elevated blood pressure (EBP), hypertension (HT), and prehypertension (PHT), along with the rising prevalence of overweight/obesity in children, correlate with a heightened risk of cardiovascular complications. This study focuses on assessing the prevalence of overweight/obesity and EBP and identifying potential indicators for effective early screening and detection of EBP in children aged 6 to 9 years old. This cross-sectional study was conducted with 1142 students from different schools across the Valencian Community in Spain. Data collection involved administering a questionnaire alongside direct anthropometric measurements of each student. The collected data underwent comprehensive statistical analysis, including frequencies, percentages, means, and chi-square automatic interaction detector (CHAID) analysis. In the sample, 7.5% of the children had HT and 6.8% had PHT, meaning 14.3% presented with EBP. Additionally, 17.0% of the children were classified as overweight and 3.9% as obese. Body mass index >23.1, body fat percentage >20.79%, and Kidmed scores <8 were identified as potential markers for early detection of EBP. The study reveals a significant incidence of EBP and overweight/obesity. Implementing screening protocols for early detection of EBP is imperative to forestall future cardiovascular events. Moreover, lifestyle modifications emerge as the most crucial approach for managing these risk factors. Full article

Certain individuals are clinically undiagnosed for Autism Spectrum Disorder (ASD) but exhibit strong ASD characteristics. This study examined the differences between a control group and a “high autistic traits” group involving individuals who scored 9 or higher on the Autism-Spectrum Quotient-16 Japanese Version, based on their sense of belonging, help-seeking style, and relationship with mental health. The participants were 608 Japanese public high school students. Of them, 129 (21.2%) and 479 (78.8%) were in the high autistic traits and control groups, respectively. A multiple regression analysis was performed using the General Health Questionnaire (GHQ) as the dependent variable for the groups. The analysis revealed no differences between the two groups regarding grade, gender, physical illness, insomnia, or mental health status; however, they differed regarding avoidant help-seeking style and teacher acceptance. Moreover, avoidant help-seeking scores in the high autistic traits group and teacher acceptance showed a significantly positive and significantly negative association with GHQ, respectively. The results indicated that children with autistic traits internally suppress them, experiencing distress. Teachers are aware that these students seek support from them, but the students seem reluctant to ask them for help. This can negatively impact the mental health of children with high autistic traits. Full article

Introduction: The prevalence of undernutrition among children below five years of age, in Uganda and the world over, remains very high. About 45% of all global deaths among children below five years of age are attributed to undernutrition. A number of studies using different statistical approaches affirm this effect, yet some factors indicate the influence of other factors within the system. This study, therefore, uses a method that demonstrates how different variables feed into each other. Aim: The aim of this study was to establish the major factors associated with an increased likelihood of undernutrition and the paths showing how these risk factors influence undernutrition. Methods: Data from the Uganda Demographic and Health Survey (UDHS, 2016) were used for this study. A sample of 4530 children, whose age, height, and weight measurements were recorded, was considered for this study. Additionally, the study used generalized structural equation models to identify the multifaceted natures and paths of the risk factors that influence undernutrition among children below five years of age. The study relied on the UNICEF 2020 conceptual framework to identify and analyze the direct and indirect effects of these risk factors of undernutrition. Results: From the perspective of a male child, having a perceived small size at birth, a low birth weight, being breastfed for less than 6 months, having no formal education from mothers, limited income-generating opportunities, a low wealth status, and notable episodes of diarrhea were among the key factors associated with an increased likelihood of undernutrition. The identified paths were as follows: (i) Having no education, as this was associated with limited working opportunities and a low income, which increases the likelihood of low household wealth status, hence increasing the chances of undernutrition. (ii) Exposure to a rural setting was associated with an increased likelihood of undernutrition through association with poor and or low employment levels within the rural areas. (iii) A shorter duration of breastfeeding was associated with children in urban areas, resulting in an increased likelihood of undernutrition. (iv) Children aged between 6 and 47 months had a higher likelihood of undernutrition. Conclusions: An approach that addresses and recognizes all these factors at different levels, along the established paths, should be implemented to effectively reduce undernutrition among children below five years of age. Full article

Handwriting is a complex perceptual motor task that requires years of training and practice before complete mastery. Its acquisition is crucial, since handwriting is the basis, together with reading, of the acquisition of higher-level skills such as spelling, grammar, syntax, and text composition. Despite the correct learning and practice of handwriting, some children never master this skill to a sufficient level. These handwriting deficits, referred to as developmental dysgraphia, can seriously impact the acquisition of other skills and thus the academic success of the child if they are not diagnosed and handled early. In this review, we present a non-exhaustive listing of the tools that are the most reported in the literature for the analysis of handwriting and the diagnosis of dysgraphia. A variety of tools focusing on either the final handwriting product or the handwriting process are described here. On one hand, paper-and-pen tools are widely used throughout the world to assess handwriting quality and/or speed, but no universal gold-standard diagnostic test exists. On the other hand, several very promising computerized tools for the diagnosis of dysgraphia have been developed in the last decade, but some improvements are required before they can be available to clinicians. Based on these observations, we will discuss the pros and cons of the existing tools and the perspectives related to the development of a universal, standardized test of dysgraphia combining both paper-and-pen and computerized approaches and including different graphomotor and writing tasks. Full article

Recent findings have demonstrated an increase in the prevalence of childhood obesity and overweight in Portugal, urging the need to study modifiable risk factors such as parental feeding practices. The Comprehensive Feeding Practices Questionnaire (CFPQ) is an important self-report measure assessing a broad range of responsive and non-responsive feeding practices. However, the CFPQ has not yet been validated in Portugal. Therefore, the present study aimed to test the validity of this measure with Portuguese parents of 2-to-8-year-old children. A sample of 409 parents completed a Portuguese-adapted version of the CFPQ and the already validated Child Feeding Questionnaire (CFQ). Confirmatory factor analysis (CFA), exploratory factor analysis (EFA), and psychometric analysis were conducted. CFA demonstrated the original 12-factor structure did not fit the sample. EFA identified an eight-factor structure comprising 29 items: Monitoring, Modeling, Environment, Involvement, Emotion Regulation, Restriction for Weight Control, Restriction for Health, and Pressure. Findings suggest that parental feeding practices are sensitive to parents’ background cultures and children’s developmental period. Full article

Cognitive assessment is a fundamental step in diagnosing intellectual and developmental disabilities, designing interventions, and evaluating their impact. However, developed and developing countries have different access to tools designed for these purposes. Our goal was to develop a battery for cognitive assessment mediated by digital technology that allows the exploration of cognitive domains (inhibitory control, attention, motor ability, and context memory) in children with Down Syndrome (DS) in Chile. Four tasks, based on established experimental paradigms modified to provide a game-like experience, were tested in 68 children with DS from 20 months to 12 years of age. We present evidence of reliability based on internal consistency and split-half analyses, with results ranging from adequate to excellent. Regarding validity, factorial and correlational analyses show evidence consistent with what was theoretically expected of internal structure, convergence, and divergence with other measures. Expected age trajectories were observed as well. Our data offer evidence that supports the use of tasks based on touch-screen devices for cognitive assessment in the population with DS. The tasks also have a low cultural load, so they could be validated and used in other contexts without the need for an adaptation process. Full article

Palliative care (PC) enhances the quality of life for patients and families facing life-threatening conditions. While PC is well-established for adults, not all practices apply to pediatrics. Consequently, specific quality indicators for Pediatric Palliative Care (PPC) must be identified. This scoping review aimed to identify the variables associated with the quality of care of PPC patients in Spain, focusing specifically on three areas: structure and process of care, psychological aspects of care, and care of patients approaching the end of life. The review was conducted following PRISMA-ScR guidelines. Searches were performed in the PubMed, Scopus, Web of Science, Embase, ProQuest, and Dialnet databases covering the period extending from January 2000 to May 2023. Finally, 35 studies were identified for the complete review. A total of 30 studies include variables associated with the structure and process of care, 20 include variables associated with psychological aspects of care, and 23 studies integrate variables related to patient care at the end of life. Analysis suggests that enhancing professional training in aspects such as communication with patients and families, creating intimate spaces with flexible visiting hours, increasing emotional support, promoting frequent contact with healthcare teams, and transparently communicating about illness and imminent death to both families and minors could improve the quality of PPC. Full article

Background: Intense or problematic media use behavior of parents could serve as a role model for their children’s media use behavior. So far, knowledge is scarce about increased children’s media use (ICMU) and its association with parental stress (PS) and problematic parental media use (PPMU). Methods: ICMU was examined using a modified set of the DSM-5 criteria for Internet Gaming Disorder. PS was assessed via the widely used Parenting Stress Index, and PPMU was assessed using the Short Compulsive Internet Use Scale. A multiple linear regression analysis was conducted to evaluate the links between ICMU, PS, and PPMU. A mediation analysis was performed to examine if PPMU mediated the relationship between PS and ICMU. Results: In sum, 809 parents (M = 36.89 years; SD = 4.87; 81.4% female) of preschool children (average age: 44.75 months, SD = 13.68) participated in the study. ICMU was statistically significantly related to higher age of the parent, greater PPMU, and higher PS. Furthermore, we found that the association between PS and ICMU was partially mediated by PPMU. Conclusions: The results indicate that more pronounced PS and PPMU are associated with ICMU, highlighting the necessity of considering these parental variables when developing early prevention strategies for preschool-age children. Full article

Congenital dermal melanocytosis (DM) represents a common birthmark mainly found in children of Asian and darker skin phototype descent, clinically characterized by an oval blue-grey macule or macules, commonly located on the lumbosacral area. In rare DM cases, when presenting with diffuse macules persisting during the first years of life, it could represent a cutaneous feature of mucopolysaccharidoses (MPS). Extensive congenital DM is actually associated with Hurler syndrome (MPS type I) and Hunter syndrome (MPS type II), although several reports also described this association with MPS type VI and other lysosomal storage disorders (LySD), including GM1 gangliosidosis, mucolipidosis, Sandhoff disease, and Niemann–Pick disease. Here, we present the case of a two-year-old boy presenting with extensive dermal melanocytosis, generalized hypertrichosis, and chronic itch, harboring a heterozygous variant of uncertain significance, NM_152419.3: c.493C>T (p.Pro165Ser), in the exon 4 of HGSNAT gene, whose mutations are classically associated with MPS IIIC, also known as Sanfilippo syndrome. This is the first report that highlights the association between extensive congenital DM and MPS type IIIC, as well as a pathogenetic link between heterozygous LySD carrier status and congenital DM. We speculate that some cases of extensive congenital DM could be related to heterozygous LySD carriers, as a manifestation of a mild clinical phenotype. Full article

This study investigates day-to-day variations in urinary luteinizing hormone (U-LH) concentrations in children, focusing on potential minimization or correction methods. 95 children and adolescents (51 boys, 44 girls, ages 5–17) provided daytime and evening urine samples for U-LH determinations over three consecutive days. No consistent day-to-day differences in U-LH levels were observed, although random variations, particularly in adolescents aged 13 or older, were noted. The net inter-assay CV% for U-LH changes over three days showed high variability, averaging 24.6% to 28.0% for boys and 21.6% to 27.3% for girls, independent of sex, collection time, or U-LH level. To reliably determine total urinary luteinizing hormone immunoreactivity in the pediatric population, it is advisable to collect multiple first-morning voided samples for at least three consecutive days as an interim solution, pending the development of a standardized protocol or correction method for varying urine composition. Strict adherence, especially for adolescents aged 13 or older, is vital. Full article

Atopic dermatitis (AD) has a negative influence on school attendance. We aimed to identify factors associated with school absenteeism in adolescents with AD. We used data from the 3rd to 11th annual Korean Youth Risk Behavior Web-based Survey completed from 2007 to 2015. Survey data were obtained from a stratified, multistage, clustered sample. Participants responded to the question “have you ever been diagnosed with AD?” Factors associated with AD-related school absenteeism (ADSA), which is defined as at least one school absence due to AD, were evaluated. Among the 141,899 subjects, the prevalence of AD increased (17.3% to 24.2%), while that of ADSA decreased (7.3% to 2.6%) from 2007 to 2015. Compared to adolescents without ADSA, those with ADSA were more likely to be male, middle school students, and have negative mental health states, including suicidality. In the multivariate logistic regression model, the association of sleep dissatisfaction and depression with ADSA was high (adjusted odds ratio, 6.12; 95% confidence intervals, 4.61–7.95; and 5.44; 5.23–5.67, respectively). The prevalence of ADSA has decreased despite an increase in the prevalence of AD in Korean adolescents; however, it is important for pediatricians to screen for factors associated with ADSA to improve school attendance in adolescents with AD. Full article

Multiple endocrine neoplasia 2B (MEN2B) is a rare syndrome with prevalence estimated at approximately 0.2 per 100,000; it is caused by mutation of the RET proto-oncogene. MEN2B is characterized by early-onset medullary thyroid carcinoma (MTC), ganglioneuromatosis of the aerodigestive tract, marfanoid habitus, ophthalmologic abnormalities, and pheochromocytoma in adulthood. Mutations in the RyR1 gene manifest clinically in congenital myopathies and/or malignant hyperthermia susceptibility. We present a case of a 4-year-old boy with an accidentally detected RET and RyR1 mutations in the course of diagnostic approach of short stature and delayed motor development. Due to a poor and blurred clinical picture of MEN2B syndrome, accompanied by RyR1 mutation symptoms, the diagnostic path was extended. Our patient had no family history of MTC. In the imaging studies of the thyroid gland, no abnormalities were found, whereas the serum level of calcitonin was elevated to 34 pg/mL (N < 5.0). The patient qualified for total thyroidectomy, and the histopathological examination confirmed the diagnosis of MTC. The postoperative serum calcitonin level dropped to normal ranges. This case shows how new genetic diagnostic procedures could be crucial in accidentally diagnosing rare endocrine disease with atypical symptoms, giving an opportunity for relatively early intervention. Full article

Background: Pain in adolescence is considered a worldwide concern. Adolescents’ pain affects family functioning. However, bidirectional associations should be considered as parental determinates such as pain, stress, and sociodemographic factors are also shown to influence pain in adolescence. Objectives: This study explored the associations between maternal and paternal sociodemographic factors, pain, and stress and adolescents’ pain, and stress on adolescents’ pain. Methods: In total, 508 school-based Norwegian adolescents with a corresponding parent were included. All adolescents completed an electronic survey during school hours, and their respective parents responded electronically. The survey included sociodemographic data, the Perceived Stress Questionnaire, and the Brief Pain Inventory. Results: Herein, 385 adolescents reported an average pain of 2.1 (SD, 1.9), and 308 of the participating parents reported an average pain of 1.6 (SD, 1.8). Regressions stratified by parental gender revealed nonsignificant associations in fathers’ study variables predicting adolescents’ pain. However, having the highest maternal educational level (p ≤ 0.01) and working part-time (p ≤ 0.01) were associated with lower pain in adolescents. Conclusions: The findings of this study demonstrated that sociodemographic factors such as high educational status in mothers and mothers working part-time were associated with lower pain in Norwegian adolescents. These findings highlight the importance of a holistic approach to pain management in adolescence. Full article

Although adults and children differ in self-vs.-other perception, a developmental perspective on this discriminative ability at the brain level is missing. This study examined neural activation for self-vs.-other in a sample of 39 participants spanning four different age groups, from 4-year-olds to adults. Self-related stimuli elicited higher neural activity within two brain regions related to self-referential thinking, empathy, and social cognition processes. Second, stimuli related to ‘others’ (i.e., unknown peer) elicited activation within nine additional brain regions. These regions are associated with multisensory processing, somatosensory skills, language, complex visual stimuli, self-awareness, empathy, theory of mind, and social recognition. Overall, activation maps were gradually increasing with age. However, patterns of activity were non-linear within the medial cingulate cortex for ‘self’ stimuli and within the left middle temporal gyrus for ‘other’ stimuli in 7–10-year-old participants. In both cases, there were no self-vs.-other differences. It suggests a critical period where the perception of self and others are similarly processed. Furthermore, 11–19-year-old participants showed no differences between others and self within the left inferior orbital gyrus, suggesting less distinction between self and others in social learning. Understanding the neural bases of self-vs.-other discrimination during development can offer valuable insights into how social contexts can influence learning processes during development, such as when to introduce peer-to-peer teaching or group learning. Full article

Background: The impact of traumatic brain injury (TBI) on the pediatric population is profound. The aim of this study is to unveil the state of the evidence concerning acute neurosurgical intervention, hospitalizations after injury, and neuroimaging in isolated skull fractures (ISF). Materials and Methods: This systematic review was conducted in accordance with PRISMA guidelines. PubMed, Cochrane, Web of Science, and Embase were searched for papers until April 2023. Only ISF cases diagnosed via computed tomography were considered. Results: A total of 10,350 skull fractures from 25 studies were included, of which 7228 were ISF. For the need of acute neurosurgical intervention, the meta-analysis showed a risk of 0% (95% CI: 0–0%). For hospitalization after injury the calculated risk was 78% (95% CI: 66–89%). Finally, for the requirement of repeated neuroimaging the analysis revealed a rate of 7% (95% CI: 0–15%). No deaths were reported in any of the 25 studies. Conclusions: Out of 7228 children with ISF, an almost negligible number required immediate neurosurgical interventions, yet a significant 74% were hospitalized for up to 72 h. Notably, the mortality was zero, and repeat neuroimaging was uncommon. This research is crucial in shedding light on the outcomes and implications of pediatric TBIs concerning ISFs. Full article

The aim of this study was to evaluate the annual, seasonal and monthly trends in children with simple and complex appendicitis and their correlation to common viral pathogens in the Netherlands. A consecutive multicenter retrospective cohort study was performed between 2010 and 2019 including children (<18 years) surgically treated for appendicitis. The primary outcome was the distribution of children with simple and complex appendicitis per year, season and month. Relevant seasonal variation was defined as ≥5%. The secondary outcome was a positive correlation of the number of patients with simple and complex appendicitis to common viral pathogens (data anonymously provided by the Dutch Working Group on Clinical Virology from the Dutch Society for Clinical Microbiology (NVMM)). In total, 896 patients were included: N = 524 (58%) patients with simple and N = 372 (42%) with complex appendicitis. Of the children aged 0–5 years, 81% had complex appendicitis, versus 38% in 6–18 years (p < 0.001). An overall decline was demonstrated for both simple and complex appendicitis between 2010 and 2019. No seasonal variation was found for simple appendicitis. For complex appendicitis, the highest number of patients was found in spring, and lowest in summer (N = 372, spring 28.2 ± 5.1% versus summer 21.0 ± 5.8%, p = 0.011), but the variance was regarded as not relevant (<5% from baseline). A positive correlation was found between complex appendicitis with Adenovirus 40.41 (R = 0.356, 95%CI 0.045–0.604, p = 0.026) and simple appendicitis with Adenovirus NON 40.41 (R = 0.332, 95%CI 0.019–0.586, p = 0.039), but these correlations did not remain significant after a Bonferroni correction (p < 0.003). In conclusion, we found no relevant seasonal variation for simple or complex appendicitis, nor positive correlation with common viral pathogens. Full article

Adolescence is a psychologically vulnerable stage in which problems of emotional adjustment and psychological well-being can appear. The aim of this study is to analyse the relationship and comparison of emotional deficits and resources among adolescents with or without specific learning disabilities. We evaluated 80 students distributed into two groups: 40 adolescents with specific learning disabilities and 40 normative adolescents matched with the previous group in terms of age, sex, and school year. The study variables are internalising problems (anxiety and depression), externalising problems (aggression, anger control, defiant behaviour, and antisocial behaviour), and personal resources (self-esteem, social competence and integration, and awareness of problems), evaluated by means of the SENA test. The results indicate a positive relationship between externalising and internalising problems and a negative relationship between the latter and some personal resources in both groups. We also found that adolescents with specific learning disabilities displayed more internalising and externalising symptoms than their peers, greater awareness of their emotional difficulties, and lower self-esteem and social integration and competence. The findings highlight the need for preventive interventions that promote the psychological well-being and mental health of adolescents within the school setting at an early age. Full article

(1) Background: The aim of the study was to describe refractive development from early childhood to adulthood in Danish patients with albinism and to evaluate the effect of foveal developmental stage on refractive development; (2) Methods: Patients with a clinical diagnosis of ocular or oculocutaneous albinism were invited for a refractive evaluation and comprehensive phenotyping including macular optical coherence tomography (OCT) scans. Foveal hypoplasia was graded based on OCT from 0 (normal) to 4 (absence of any signs of foveal specialization). Medical files were reviewed for historical refractive values in individual patients; (3) Results: Hyperopia (spherical equivalent refraction (SEQ) of ≥+1 Diopter (D)) was common in both children (81.3%) and adults (67.1%). The lower prevalence of hyperopia in adults was predominantly explained by increasing astigmatism with age. Emmetropization (>2D change from before 3 years to adolescence) was seen in 22.2%. There was no influence on foveal hypoplasia grade on the degree of refractive errors throughout life; (4) Conclusions: We found that emmetropization was uncommon in Danish patients with albinism and that the degree of foveal developmental stage did not influence emmetropization or the distribution of refractive errors. High degrees of hyperopia and astigmatism were common. These results indicate that fear of impeding emmetropization should not refrain the clinician from providing adequate correction for refractive errors in young children with albinism. Full article

Prior studies of associations between hospital location and outcomes for pediatric appendectomy have not adjusted for significant differences in patient and treatment patterns between settings. This was a cross-sectional analysis of pediatric appendectomies in the 2016 Kids’ Inpatient Database (KID). Weighted multiple linear and logistic regression models compared hospital location (urban or rural) and academic status against total admission cost (TAC), length of stay (LOS), and postoperative complications. Patients were stratified by laparoscopic (LA) or open (OA) appendectomy. Among 54,836 patients, 39,454 (73%) were performed at an urban academic center, 11,642 (21%) were performed at an urban non-academic center, and 3740 (7%) were performed at a rural center. LA was utilized for 49,011 (89%) of all 54,386 patients: 36,049 (91%) of 39,454 patients at urban academic hospitals, 10,191 (87%) of 11,642 patients at urban non-academic centers, and 2771 (74%) of 3740 patients at rural centers (p < 0.001). On adjusted analysis, urban academic centers were associated with an 18% decreased TAC (95% CI −0.193–−0.165; p < 0.001) despite an 11% increased LOS (95% CI 0.087–0.134; p < 0.001) compared to rural centers. Urban academic centers were associated with a decreased odds of complication among patients who underwent LA (OR 0.787, 95% CI 0.650–0.952) but not after OA. After adjusting for relevant patient and disease-related factors, urban academic centers were associated with lower costs despite longer lengths of stay compared to rural centers. Urban academic centers utilized LA more frequently and were associated with decreased odds of postoperative complications after LA. Full article

Tracheal agenesis (TA) is a rare congenital anomaly with an incidence of 1 per 50,000 newborns. It appears at birth with severe respiratory distress, cyanosis, and inaudible crying. Prompt esophageal intubation and long-term management of the esophageal airway are essential to overcome this catastrophic condition. In the long-term management, external stenting of the esophageal airway has been reported as promising to support the fragile esophageal wall; this technique was taken from the surgery for tracheomalacia. We experienced a case of an infant with tracheal agenesis whose respiratory status was stabilized after external esophageal stenting. The stenting was performed based on a lesson learned in the extensive experience in the surgical treatment for tracheomalacia, and the surgical techniques for successful stenting are herein described. Full article