Children, Volume 10, Issue 10 (October 2023) – 139 articles

(1) Background: Embryonal abdominal tumors are one of the most common entities of solid childhood cancer. The present study investigates the Health-Related Quality of Life (HRQoL) and the mental health of children to obtain a comprehensive picture of their health status and uncover a possible gap in healthcare. (2) Methods: The sample consisted of 54 children who were treated for embryonal abdominal tumors and a control group of 46 children who received uncomplicated outpatient surgery. The HRQoL and the mental health were assessed by the parent proxy reports of the questionnaires Pediatric Quality of Life Inventory (PedsQL) and Strengths and Difficulties Questionnaire (SDQ). (3) Results: Children with embryonal abdominal tumors showed significantly lower HRQoL and mental health values compared to the norm data. The index group showed lower values in the social subscales of HRQoL and mental health compared to the control group. (4) Conclusions: Embryonal abdominal tumors affect the well-being of children. There is still a gap in healthcare due to children’s HRQoL and mental health, especially regarding social development. It is essential to further advance the psychological care of children and improve their chances to develop social relationships. Full article

Both reading difficulties (RD) and mathematics difficulties (MD) are common neurodevelopmental disorders. The co-occurrence of RD and MD, known as comorbid RDMD, is estimated to range between 21% and 45% of children with learning disabilities. Deficits in working memory have been reported in both RD and MD groups, as well as among comorbid RDMD. However, previous comorbidity studies have only examined the role of some components of working memory, and they do not strictly match their groups on relevant reading and mathematics tasks. Thus, the purpose of this study is to examine the nature of working memory deficits in comorbid RDMD after matching groups based on reading and mathematics tasks. We assessed four groups of children (RD [n = 21, M_age = 10.96 years], MD [n = 24, M_age = 11.04 years], comorbid RDMD [n = 26, M_age = 10.90 years], and chronological-age controls [n = 27, M_age = 10.96 years]) on measures of the phonological loop (word span and digit span forward tasks), central executive (complex word and digit span), and updating tasks (word and digit 2-back). The results of ANCOVA (covarying for gender and non-verbal IQ) showed first that the RD and RDMD groups performed significantly worse than the MD and control groups in both measures of the phonological loop. For the central executive and updating tasks, we found an effect based on stimulus type. For word-related tasks, the RD and comorbid RDMD groups performed worse than the MD and control groups, and for number-related tasks, the MD and comorbid RDMD groups performed worse than the RD and control groups. Taken together, our findings provide support for the correlated liability model of comorbidity, which indicates that working memory deficits experienced by the RDMD group are an additive combination of deficits observed in the RD and MD groups, suggesting that working memory tasks used to examine underlying deficits in reading and/or mathematics difficulties may dictate whether or not significant group differences are found. Full article

Most research on the impact of maternal depressive symptoms on child development is conducted during the first year postpartum. Findings on long-term effects of maternal depression are still contradictory and underexplored. The present study investigates the long-term impact of maternal depression during the postpartum and early parenthood periods on child behavioral problems at the mean age of 2.25 years. The Edinburgh postnatal depression scale and Beck depression Inventory were used to assess postpartum and early parenthood depression, respectively. The Child Behavior Checklist was used to examine child’s behavioral problems. The regression analysis showed statistically significant associations between child behavioral problems and maternal depression during early parenthood and no significant associations with postpartum depression. Four maternal depressive symptoms’ trajectories were identified: consistently low, consistently high, decreased, and increased. The children of mothers with consistently high depressive symptoms at both research stages had the most significant total, internalizing, and externalizing problems. Children of mothers whose depressive symptoms decreased over time had the lowest scores in all three domains of behavioral problems. It is extremely important to implement programs for screening and early intervention for maternal mental health problems that could greatly influence the well-being of women and their children’s development. Full article

Williams Syndrome (WS) involves high rates of psychopathology across the lifespan. However, little is known about the early, longitudinal trajectory of internalising/externalising symptoms or the association between these and the family environment in WS. WS (n = 16; aged 2 years, 2 months to 9 years, 5 months) and typically developing or TD (n = 46; aged 2 years, 2 months to 11 years, 1 month) children were assessed on two occasions over 2.5 years utilising parent report questionnaires—the Child Behaviour Checklist and the Family Environment Scale. No statistically significant changes were found in CBCL/psychopathology profiles across timepoints, on average, for either WS or TD children. However, reliable change scores showed WS children had considerable variability in CBCL scores over time. Cross-sectionally, the WS group showed higher scores (reflecting more psychopathology) compared to TD controls at both time points across most CBCL subscales, with elevated overall psychopathology problems identified in 56–68% of WS children (versus 8% in TD controls). Psychopathology was not associated with sex, chronological age, or cognitive ability in WS. Conflict in the family environment was positively associated with higher Attention Problems at Time 1 in the WS group, whilst the TD group showed associations between family conflict and total psychopathology problems at both time points and between family cohesion and total psychopathology problems at Time 2. Family environment did not differ between groups, except for lower engagement in intellectual and cultural activities in WS. Findings highlight variable Internalising and Externalising Problems in young WS children over time, with greater biological than environmental contributions to psychopathology in WS. Full article

Background: Transphyseal humeral separations (TPHS) are rare injuries often associated with non-accidental trauma, necessitating accurate diagnosis. This study aims to assess the accuracy of diagnosis of TPHS. Methods: A retrospective review was conducted at five academic pediatric institutions to identify all surgically treated TPHS in patients up to 4 years of age over a 25-year period. Demographics, misdiagnosis rates, and reported misdiagnoses were noted. Comparative analyses were performed to analyze the effects of patient age and injury mechanism on misdiagnosis rates. Results: Seventy-nine patients (average age: 17.4 months) were identified, with injury mechanisms including accidental trauma (n = 49), non-accidental trauma (n = 21), Cesarean-section (n = 6), and vaginal delivery (n = 3). Neither age nor injury mechanism were significantly associated with diagnostic accuracy in the emergency department (ED)/consulting physician group. ED/consulting physicians achieved an accurate diagnosis 46.7% of the time, while radiologists achieved an accurate diagnosis 26.7% of the time. Diagnostic accuracy did not correlate with Child Protective Services (CPS) involvement or with a delay in surgery of more than 24 h. However, a significant correlation (p = 0.03) was observed between injury mechanism and misdiagnosis rates. Conclusion: This multicenter analysis is the largest study assessing TPHS misdiagnosis rates, highlighting the need for raising awareness and considering advanced imaging or orthopedic consultation for accurate diagnosis. This also reminds orthopedic surgeons to always have vigilant assessment in treating pediatric elbow injuries. Level of Evidence: Level III–Retrospective Cohort Study. Full article

Background: The diagnostic process for children and adults manifesting a constellation of ectodermal abnormalities requires a conscientious and highly structured process. Material and Methods: Six girls (aged 6-month–8 years) and two older girls (aged 13 and 16 years) were born with variable skin lesions of varying intensities associated with noticeable cranial and skeletal malformation complexes. Cleft palate, abnormal dentition, and multiple papillomas were evident around the mouth, mostly bilateral but asymmetrical in the upper and lower limbs. Exaggerated frontal bossing (macrocephaly) and in some patients’ microcephaly with variable skeletal defects of the craniocervical junction and diverse forms of lower limb deformities of syndactyly, polydactyly, and split-hand/foot (ectrodactyly). Results: All patients manifested the constellation of abnormalities with variable intensities ranging between alopecia, papillomas, striated skin pigmentations split-hand/foot (ectrodactyly), and major bone defects. A 3D reconstruction CT scan was directed mainly to further scrutinize children with pseudo cleft lip, submucus cleft, and cleft palate. Interstingly, they manifested massive demineralization of the cranium associated with severely defective dentition. A spine 3D reconstruction CT scan in two girls showed marked cystic cavitation of the upper jaw associated with excessive cavitation of the mastoid, causing tremendous frailty of the mastoid bone. A 3D sagittal CT scan showed odontoid hypoplasia and C1-2 instability associated with the rudimentary atlas and the persistence of extensive synchondrosis of the cervico-thoracic spine. The overall clinical and radiological phenotypic characterizations were consistent with the diagnosis of focal dermal hypoplasia (Goltz syndrome). Two children manifested heterozygous mutations in the PORCN gene, chromosome Xp11. Conclusions: In this study, we believe it’s a good opportunity to share our novel scientific findings, which are intriguing and can be inspiring to readers, and to further aid the current scientific literature with exceptionally new unveiling results. This is the first comprehensive study of the cranio-skeletal malformation complex in children with GS. Full article

(1) Background: With shifts in daily dietary habits, concerns have arisen regarding potential impacts on metabolic health. This study sought to investigate the interplay between nutrient intake and its effects on the anthropometric and inflammatory profiles of young individuals. (2) Methods: Our approach examined the interrelation of caloric, macronutrient, and vitamin intakes with inflammatory markers, serum cholesterol, triglycerides, and other key metrics. The impact of these factors on body mass and inflammation was evaluated. (3) Results: This study found that while increased caloric intake corresponded to a rise in body fat mass, it did not significantly alter body weight, total protein, or fat profile. A dominant carbohydrate intake negatively correlated with vitamin B consumption. Interestingly, only vitamin K showcased a direct association with IL-6, while IL-8 remained unassociated with dietary intake and body mass metrics. (4) Conclusions: Dietary intake undeniably influences nutrient consumption and subsequently affects body mass metrics. Though an escalation in body fat mass was evident with increased food intake, the relationship between vitamins and inflammatory markers, based on macronutrient and caloric intake, remains inconclusive. The findings point to the potential regulatory roles of proteins and select vitamins in inflammation, emphasizing the need for deeper longitudinal studies to further validate these connections. Full article

Background: The purpose of this study is to better understand the way caregivers of patients with Rett syndrome perceive the quality of the health care services they receive and identify its main shortcomings. Methods: A survey was distributed to all caregivers who are part of AIRETT (the Italian Association of Relatives of Patients with RS). The survey gathered information on the management of relatives of patients with Rett syndrome. Results: The data refers to 52 patients, all females, with a median age of 15 years at the time of the survey. Concerning RS specificity, our data confirm the high complexity of this chronic, multifaceted condition, mainly characterized by the presence of epilepsy, apnea, severe scoliosis, and gastrointestinal symptoms. The specialists more frequently involved in the care of patients were general practitioners or family pediatricians (98%) and neurologists (92%), and more rarely physiatrists (71%). Only 15% of patients were followed by a pulmonologist, despite the fact that respiratory problems were frequent (apneas were present in 81% of patients, and 2% had a tracheostomy). Although 63.5% of patients presented with gastrointestinal symptoms and 2% had a gastrostomy, only 33% were followed by a gastroenterologist. Moreover, although orthopedic issues were present in 78.8% of patients, including severe scoliosis in 22% of them, only 25% were followed by an orthopedist. Furthermore, despite the fact that RS patients are fragile, about one quarter of them were not vaccinated. As far as organizational issues are concerned, several specialized centers are located in various regions throughout the country. As a consequence, the high mobility rate from one center to another resulted in non-homogeneous assistance. Conclusions: The study shows that caregivers of RS patients take over most obligations and burdens by increasing their perceived level of stress. For the majority of patients, the most frequent complications were not followed by the reference subspecialist, with the only exception of epilepsy. Moreover, improving vaccination strategies for these patients is necessary. Full article

Predicting the short- and long-term outcomes of extremely preterm infants remains a challenge. Multivariable prognostic models might be valuable tools for clinicians, parents, and policymakers for providing accurate outcome estimates. In this perspective, we discuss the opportunities and challenges of using prognostic models in extremely preterm infants at population and individual levels. At a population level, these models could support the development of guidelines for decisions about treatment limits and may support policy processes such as benchmarking and resource allocation. At an individual level, these models may enhance prenatal counselling conversations by considering multiple variables and improving transparency about expected outcomes. Furthermore, they may improve consistency in projections shared with parents. For the development of prognostic models, we discuss important considerations such as predictor and outcome measure selection, clinical impact assessment, and generalizability. Lastly, future recommendations for developing and using prognostic models are suggested. Importantly, the purpose of a prognostic model should be clearly defined, and integrating these models into prenatal counselling requires thoughtful consideration. Full article

Suboptimal micronutrient intake in children remains a public health concern around the world. This study examined the relationship between a previously defined dietary carbohydrate quality index (CQI) and the risk of micronutrient intake inadequacy in a pediatric cohort of Spanish preschoolers. Children aged 4–5 years old were recruited at their medical center or at school, and information on sociodemographic, dietary, and lifestyle variables were collected through a self-administered online questionnaire. Dietary information was obtained from a validated 147-item semi-quantitative food frequency questionnaire. We calculated the CQI and categorized participants into quartiles according to their scores. We assessed the intakes of 20 micronutrients and evaluated the probability of intake inadequacy by using the estimated average requirement cut-off point. Generalized estimating equations were used to adjust for potential confounders and account for the intra-cluster correlations between siblings. The adjusted proportions of children with an inadequate intake of ≥three micronutrients were 23%, 12%, 11%, and 9% in the first, second, third, and fourth quartiles of the CQI, respectively. Children in the highest quartile of the CQI had 0.22-fold lower odds (95% CI 0.10–0.48) of having ≥three inadequate micronutrient intakes than their peers in the lowest quartile. These findings reinforce the relevance of carbohydrate quality in children’s diets. Full article

Probiotics are known to decrease incidences of necrotising enterocolitis, feeding intolerance, late-onset sepsis, and mortality in preterm infants. Administering an adequate dose is important for optimizing the benefits and safety of probiotics. We conducted a systematic review to assess the effect of probiotic dose escalation on clinical outcomes and gut microbiota in preterm neonates. We searched PubMed, EMBASE, EMCARE, Medline, Cochrane Library, Google Scholar, and MedNar databases in July 2023. Three studies were included. In one of the randomized studies (n = 149, gestation 27 to 33 weeks), no significant differences in faecal Lactobacillus and Bifidobacterium counts and clinical outcomes were seen between the high- and low-dose groups. There was a trend towards increased Lactobacillus and Bifidobacterium counts in the high-dose group. In the other randomized study (n = 120, birth weight 500 to 2000 gm), smaller infants (500 to 1000 gm) required higher doses to display Lactobacillus in their faeces. The cohort study (n = 12, gestation < 33 weeks) showed a trend towards an increase in faecal abundance of bifidobacteria and bacterial diversity in the B. infantis group with increasing dose/time. Limited evidence suggests a higher dose might improve gut colonization in preterm infants. Further studies are urgently needed to address this gap in the knowledge considering the increasing use of probiotics for preterm infants. Full article

Background. Foreign Body Aspiration (FBA) represents a leading cause of death among unintentional injuries in children less than one year of age. This study reviewed case reports and case series reporting non-food FBA in children to characterize aspirated foreign bodies, describing the clinical presentations and the outcomes. Methods: A systematic review was conducted according to the PRISMA checklist. Case reports and case series presenting non-food FBA in children (up to 18 years) were eligible to be included. Information regarding study characteristics, child demographics, foreign body characteristics, clinical presentation, and outcome were extracted. Results: The review included 248 articles published between 1965 and 2023, corresponding to 294 cases. The male gender was the most prevalent (194 cases, 66%), and the median age was 3.5 years (Interquartile Range: 1–8 years). Button batteries were the objects most frequently reported (21 cases, 7.1%). Objects were located most often in the bronchus (102 cases, 35%). The most common symptom was cough (181 cases, 62%), followed by respiratory distress (160 cases, 54%) and wheezing/stridor (127 cases, 43%). Conclusions: The present systematic review may have relevant public health implications, since characterizing objects that cause foreign body injuries is essential to reduce the burden of this phenomenon. Full article

(1) Introduction: Correct development and growth of the dental arches and occlusion in the deciduous dentition is crucial for physiological occlusion in the permanent dentition. The present study evaluates the evolution of the terminal plane and canine occlusion class in the same children from deciduous to mixed dentition. (2) Materials and methods: The study included 257 children (164 girls and 93 boys) aged 3–5 years in the first phase and 8–10 years in the second phase. The chi-square test was used for the comparison of qualitative variables, while analysis of variance (ANOVA) or the Mann–Whitney U-test, Kruskal–Wallis test, and Wilcoxon test were used in the case of quantitative variables, as applicable. Statistical significance was considered for p < 0.05. (3) Results: The most common terminal plane in the first phase of the study was a bilateral flush plane (70%), followed by distal and mesial, with few differences between them. In the second phase, the most common terminal plane was mesial, followed by bilateral flush and distal. There were no statistically significant differences according to gender. Canine occlusion in the first phase was predominantly bilateral class I, followed by class II and class III. Similar results were recorded in the permanent dentition, except for a lesser percentage of children with canine class II. Molar occlusion in the second phase was predominantly class I, followed by half cusp class II and full cusp class II and class III. (4) Conclusions: The present study shows that knowing the age range in which maximum dental development and growth in both arches occurs may contribute to avoiding malocclusions and the possible need for orthodontic-orthopedic treatment, resulting in improved outcomes and greater stability. Full article

Cystic fibrosis (CF) and primary ciliary dyskinesia (PCD) are genetic respiratory diseases featured by chronic upper and lower airway inflammation and infection, mainly due to impaired mucociliary clearance due to genetic mutations. Sleep is crucial to healthy children’s normal physical and psychological development and has an important value in chronic respiratory diseases. Impaired sleep quality, such as sleep deprivation or insufficient sleep during the night, and sleep respiratory disorders (SRDs) are common in 5% to 30% of the general population. Sleep disruption leads to attention deficits, daytime sleepiness, fatigue and mood disorders and correlates to a worsened quality of life. Furthermore, sleep respiratory disorders (SRSs) are under-recognized comorbidities in CF and PCD patients. SRSs include a spectrum of symptoms ranging from primary snoring through upper airway resistance to obstructive sleep apnea (OSA), nocturnal hypoventilation and hypoxemia occurring in people with moderate to severe lung disease and damaging the disease-related outcomes and quality of life. Effective screening during sleep with polysomnography is very important for the timely initiation of efficacious treatments and to prevent worsened respiratory, metabolic and cardiovascular outcomes. However, the impact of SRDs on health and quality of life is still underinvestigated. Full article

(1) Aim: The aim of the study was to develop and analyze the psychometric properties of a hospital perception scale for healthy children aged 8 to 10 years. (2) Methods: A methodological design was employed. The scale’s validity was investigated using the approaches of content validity, face validity, item analysis, and construct validity. The scale’s reliability was evaluated utilizing the approaches of internal consistency reliability, measurer reliability, and measurement invariance. (3) Results: In total, 330 children took part in this study. The scale is composed of six factors. Factor loads range from 0.42 to 0.79. The item–total score correlation coefficients were 0.42 and 0.79, respectively, while the Cronbach alpha reliability coefficient was 0.87. (4) Conclusions: The HPSHC is a valid and reliable tool. It can be used to determine how healthy or sick children in their middle childhood are perceived when going to the hospital and being hospitalized. Full article

Background: The utilization of evidence-based approaches is crucial to achieving long-term positive outcomes for treatment performed chairside or under general anesthesia. The study aimed to evaluate if treatment modality (at the chairside or under general anesthesia) affects prognosis and the need for re-treatment. Methods: Oral-hygiene, gingival, and plaque indexes were recorded during the control appointment. The success of all treatments was evaluated according to the scoring of particular evaluation criteria. Results: A total of 1066 dental procedures were performed on 92 children. Plaque index scores were higher for patients treated under general anesthesia. The success rate of restorative procedures was 82.5% under general anesthesia and 80.6% at the chairside. There was no statistically significant difference between the mean number of restorative treatments and the need for re-treatment between general anesthesia or chairside (p = 0.649, p = 0.311). The mean number of unsuccessful endodontic treatments performed under general anesthesia was higher than performed chairside. Only two out of thirty stainless-steel crowns were decemented, all performed under general anesthesia. Conclusions: The high volume of restoration failure due to secondary caries has highlighted the need for alternative approaches to caries management, especially given the risks associated with repeat general anesthetic. Full article

Background: Past research has shown that perfectionistic strivings (PS) and perfectionistic concerns (PC) in the parenting domain are associated with an increase in parental burnout (PB), and that PB causally increases violence towards one’s offspring. One may therefore wonder whether parenting perfectionism may ironically increase violence towards one’s offspring. Objective: To the best of our knowledge, no study has ever investigated whether perfectionism (PS and PC) predicts violence towards one’s offspring, or whether PB could explain this link. In the current pre-registered cross-lagged study, we hypothesized that an increase in PS and PC would lead to an increase in violence via an increase in PB. Method: 228 participants responded to a longitudinal online survey, with three measurement occasions spaced 2 months apart. Results: Contrary to expectations, cross-lagged path models revealed that violence towards the offspring prospectively predicted an increase in PS and PC. Mediation models showed that PB was not a significant mediator. Results of all models did not change when controlling for social desirability. Conclusion: The present study shows that violence towards the offspring increases the risk of PS and PC in parents. Results are discussed in light of the feeling of guilt experienced by parents. Implications: Current worries that parenting perfectionism may paradoxically increase violence appear to be unwarranted at this stage. Moreover, correlation is not causation; thus, emphasizing caution before coming to clinically and societally relevant conclusions in cross-sectional studies. Thus, the PB and child maltreatment literature should slowly shift to using more longitudinal and causal designs. Full article

SARS-CoV-2 pneumonia in children has a lower incidence and severity compared to adults. Risk factors are adolescence and comorbidities. Our aims were to describe the characteristics of children admitted with SARS-CoV-2 pneumonia, identify risk factors associated with severity and compare the cases according to the variant of SARS-CoV-2. This was a descriptive and retrospective study, including patients aged 0–18 years hospitalized in a tertiary-care hospital between 1 March 2020 and 1 March 2022. Epidemiological, clinical, diagnostic and therapeutic data were analyzed. Forty-four patients were admitted; twenty-six (59%) were male and twenty-seven (61%) were older than 12 years. Thirty-six (82%) had comorbidities, the most frequent of which were obesity and asthma. Seven (15.9%) patients required high-flow oxygen, eleven (25%) non-invasive ventilation and four (9.1%) conventional mechanical ventilation. In critically ill patients, higher levels of anemia, lymphopenia, procalcitonin, lactate dehydrogenase (LDH) and hypoalbuminemia and lower levels of HDL-cholesterol were detected (all p < 0.05). Prematurity (p = 0.022) was associated with intensive care unit admission. Patients were younger during the Omicron wave (p < 0.01); no variant was associated with greater severity. In conclusion, pediatric patients with a history of prematurity or with anemia, lymphopenia, elevated procalcitonin, elevated LDH levels, hypoalbuminemia and low HDL-cholesterol levels may require admission and present more severe forms. Apart from age, no notable differences between SARS-CoV-2 variant periods were found. Full article

Electroencephalographic sleep stage transitions and altered first REM sleep period transitions have been identified as biomarkers of type 1 narcolepsy in adults, but not in children. Studies on memory complaints in narcolepsy have not yet investigated sleep-dependent memory consolidation. We aimed to explore stage transitions; more specifically altered REM sleep transition and its relationship with sleep-dependent memory consolidation in children with narcolepsy. Twenty-one children with narcolepsy–cataplexy and twenty-three healthy control children completed overnight polysomnography and sleep-dependent memory consolidation tests. Overnight transition rates (number of transitions per hour), global relative transition frequencies (number of transitions between a stage and all other stages/total number of transitions × 100), overnight transitions to REM sleep (transition from a given stage to REM/total REM transitions × 100), and altered first REM sleep period transitions (transitions from wake or N1 to the first REM period) were computed. Narcoleptic children had a significantly higher overnight transition rate with a higher global relative transition frequencies to wake. A lower sleep-dependent memory consolidation score found in children with narcolepsy was associated with a higher overnight transition frequency. As observed in narcoleptic adults, 90.48% of narcoleptic children exhibited an altered first REM sleep transition. As in adults, the altered sleep stage transition is also present in children with narcolepsy–cataplexy, and a higher transition rate could have an impact on sleep-dependent memory consolidation. These potential biomarkers could help diagnose type 1 narcolepsy in children more quickly; however, further studies with larger cohorts, including of those with type 2 narcolepsy and hypersomnia, are needed. Full article

Idiopathic infantile hypercalcemia (IIH) is a rare genetic disease, also called hypersensitivity to vitamin D3. The molecular heterogeneity allows for the differentiation between the two forms; IIH type 1 caused by CYP24A1 genetic variants and IIH type 2 associated with SLC34A1 mutations. The affected individuals express a variety of symptoms: hypercalcemia, hypercalciuria, suppressed intact parathormone levels (PTH), nephrocalcinosis, elevated levels of serum 1,25 (OH)2-vitamin D3 or inappropriately normal levels, and kidney phosphate wasting. The present paper describes three cases of IIH with heterozygous mutations in SLC34A1 and CYP24A1 genes, respectively. The genetic diagnosis is of paramount importance for proper treatment and the prediction of long-term outcomes. Full article

Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary kidney disorder, estimated to affect 1 in 1000 people. It displays a high level of variability in terms of onset and severity among affected individuals within the same family. In this case study, three sisters (4, 8, and 10 years of age) were suspected of having ADPKD due to their positive family history. While the two younger sisters aged 8 and 4 showed no disease complications and had normal kidney function, the oldest sister was found to have no dipping status on ambulatory blood pressure measurement (ABPM). Two of the sisters were discovered to have a PKD1 mutation, while the third sister aged 8 was heterozygous for TTC21B c.1593_1595del, p. (Leu532del), which is a variant of uncertain significance (VUS). Environmental factors and genetic modifying factors are believed to contribute to the phenotypic variability observed in ADPKD. Identifying and understanding potential genetic and environmental modifiers of ADPKD could pave the way to targeted treatments for childhood ADPKD. Full article

Neonatal hyperbilirubinemia is an extremely common metabolic complication of the neonatal period which may be associated with bilirubin encephalopathy and even death. Adverse neurological consequences are preventable if a timely diagnosis and treatment are provided. Phototherapy is usually the preferred option to decrease hyperbilirubinemia. Although considered to be safe, evidence in recent years has shown that this treatment may not be free of side effects and short- and long-term unfavorable outcomes. These are usually mild or rare, but should be decreased or avoided if possible. Many useful complementary measures and treatments have been described that could shorten the duration of exposure to phototherapy. However, there is no current unequivocal recommendation to use any of the methods presented in this review. Our review aims to depict the wide range of possible complementary treatments to phototherapy, and to provide the scientific and clinical evidence available regarding their usefulness. It is essential that, while utilizing the full potential of phototherapy to treat hyperbilirubinemia, caregivers are aware of its side effects and possible inherent dangers, and seek ways to minimize the exposure to phototherapy to what is really needed for the newborn. Further studies are needed to clarify the preferred complementary treatments that could reduce the duration of exposure to phototherapy without impairing its effectiveness. Full article

Inflammatory bowel disease (IBD) is the term given to a heterogeneous group of chronic inflammatory diseases of the gastrointestinal tract (GI). These include ulcerative colitis (UC), where the inflammatory process involves only the intestinal mucosa, and Crohn’s disease (CD), where it can involve the entire wall of the GI in all of its sections. In addition to typical gastrointestinal complaints, IBD manifests with a range of extraintestinal symptoms involving inter alia the eyes, joints, skin, liver and biliary tract. These can cause a number of extraintestinal complications; of these, one of the most common is anaemia, usually resulting from nutritional deficiencies, especially iron, or chronic inflammation. When treating patients with IBD, it is important to consider the possibility of rare but serious complications, including autoimmune haemolytic anaemia (AIHA). This condition occurs in only 0.2 to 1.7% of UC cases and is even rarer in CD. AIHA is usually mild but can occur suddenly and cause very rapid anaemia. In the article presented here, we describe the case of a patient who developed AIHA two years after a diagnosis of CD, causing a life-threatening diagnostic and therapeutic challenge for the medical team. Full article

The aim of this report is to review the literature dealing with the postoperative correction of rib hump (RH) after spinal operations for adolescent idiopathic scoliosis (AIS) and its aetiological implications of hump postoperative fate for IS. Recommendations related to RH deformity for the follow-up of younger asymmetric but not scoliotic children are provided, and the concept that clinical monitoring of the chest deformity is more important than merely an initially negative radiographic examination (curve less than 10°) is underlined. Additionally, guidelines are provided based on the segments T1–T12 rib index (RI) in the existing lateral preoperative radiographs for the optimal selection of the rib level for a successfully costoplasty. This review is based on the collected articles that used either the RI method, derived from the double rib contour sign (DRCS) at the lateral spinal radiographs, or alternative methods for the assessment of the RH deformity and presented the results of the operative treatment of the scoliotic spine on RH. A total of 19 relevant articles published from 1976 to 2022 were found in PubMed. Findings: All the above articles show that not only is the hump incompletely corrected, but it recurs and worsens during the follow-up and even more intensively in skeletally immature operated scoliosis children. Conclusions and Future Directions: Surgery straightens the spine, yet the RH is corrected approximately only as much as the spinal derotation. The only way to correct the RH more is with costoplasty, which, however, is not performed in most cases for many reasons. The key reason for this phenomenon is the fact that the RH deformity (RHD) is mainly due to the asymmetric development of the ribs and much less so due to the rotation of the vertebrae in the thoracic spine. Surgery on the spine cannot limit the asymmetry of the ribs or stop the mechanism that causes their asymmetrical growth. The results presented in all the reviewed articles support the important protagonistic role of RHD on scoliogenesis, which precedes the subsequent formed spinal deformity. Full article

Introduction: The Enterobacter cloacae complex (ECC) species are potential neonatal pathogens, and ECC strains are among the most commonly encountered Enterobacter spp. associated with nosocomial bloodstream infections. Outbreaks caused by ECC can lead to significant morbidity and mortality in susceptible neonates. At the molecular level, ECC exhibits genomic heterogeneity, with six closely related species and subspecies. Genetic variability poses a challenge in accurately identifying outbreaks by determining the clonality of ECC isolates. This difficulty is further compounded by the limitations of the commonly used molecular typing methods, such as pulsed field gel electrophoresis, which do not provide reliable accuracy in distinguishing between ECC strains and can lead to incorrect conclusions. Next-generation sequencing (NGS) offers superior resolution in determining strain relatedness. Therefore, we investigated the clinical pertinence of incorporating NGS into existing bundle measures to enhance patient management during an outbreak of ECC in a level-3 neonatal intensive care unit (NICU) in Germany. Methods: As the standard of care, all neonates on the NICU received weekly microbiological swabs (nasopharyngeal and rectal) and analysis of endotracheal secretion, where feasible. During the 2.5-month outbreak, colonisation with ECC was detected in n = 10 neonates. The phylogenetic relationship and potential antimicrobial resistance genes as well as mobile genetic elements were identified via bacterial whole-genome sequencing (WGS) using Illumina MiSeq followed by in silico data analysis. Results: Although all ECC isolates exhibited almost identical antimicrobial susceptibility patterns, the WGS data revealed the involvement of four different ECC clones. The isolates could be characterised as Enterobacter hormaechei subspecies steigerwaltii (n = 6, clonal), subsp. hoffmannii (n = 3, two clones) and subsp. oharae (n = 1). Despite the collection of environmental samples, no source of this diffuse outbreak could be identified. A new standardised operating procedure was implemented to enhance the management of neonates colonised with MRGN. This collaborative approach involved both parents and medical professionals and successfully prevented further transmission of ECC. Conclusions: Initially, it was believed that the NICU outbreak was caused by a single ECC clone due to the similarity in antibiotic resistance. However, our findings show that antibiotic susceptibility patterns can be misleading in investigating outbreaks of multi-drug-resistant ECC. In contrast, bacterial WGS accurately identified ECC at the clonal level, which significantly helped to delineate the nature of the observed outbreak. Full article

Many adolescent health surveys ask if respondents are male or female. Non-response may be due to fear of de-anonymisation or being a gender-nonconforming youth. The present study investigates the frequency of non-response and its potential reasons. To this end, data from 54,833 adolescents aged 11–18 from six countries, participating in the 2018 Health Behaviour in School-aged Children (HBSC) study, were analysed. Respondents were divided into three groups: (1) “Responders” who answered both questions on age and gender, (2) “Age non-responders” who did not answer the question on age, and (3) “Gender non-responders” who answered the question on age but not the one on gender. These groups were compared regarding their non-response to other questions and regarding their health. Overall, 98.0% were responders, 1.6% were age non-responders and 0.4% were gender non-responders. On average, age non-responders skipped more questions (4.2 out or 64) than gender non-responders (3.2) and responders (2.1). Gender non-responders reported more psychosomatic complaints, more frequent substance use and lower family support than responders. This study shows that age and gender non-responders differ in their response styles, suggesting different reasons for skipping the gender question. The health disparities found between the groups suggest that further research should use a more nuanced approach, informed by LGBT+ youth’s insights, to measure sex assigned at birth and gender identity. Full article

Background: The prognosis of orthodontic treatment for a patient with impacted canine teeth can be affected by many factors and understanding some of the characteristics of impacted teeth can increase the effectiveness and reduce the duration of treatment. This study aims to explore the effects of positions and dentoalveolar morphological characteristics of impacted maxillary canines on the prognosis of orthodontic treatment. Methods: In this study, forty-six adolescent individuals who applied for treatment of impacted teeth were divided into three groups: CC (no impacted maxillary canine group), BC (unilateral buccally positioned impacted maxillary canine group), and PC (unilateral palatally positioned impacted maxillary canine group). The impacted canine and adjacent teeth were evaluated in terms of position, angulation, inclination, mesiodistal and buccolingual widths, root length, dilaceration angle, and root resorption. Results: The mean values of U3 Ang (angulation of the maxillary impacted canine) and U3/U2 angles (maxillary impacted canine and lateral incisor angle) were statistically significantly higher in the BC and PC groups (p < 0.001). The mean values of U2 RL (lateral incisor root length) and U3 RD (canine root dilaceration angle) were statistically significantly lower in the BC and PC groups. Conclusions: The results of this study suggest that shorter root lengths and increased angulation values may lead to the ectopic eruption of canines. The higher canine angulations in the PC group increase the degree of root resorption. Full article

A study was performed to determine early metabolomic markers of ischemic hypoxic encephalopathy (HIE) using a Rice–Vannucci model for newborn rats. Dried blood spots from 7-day-old male and female rat pups, including 10 HIE-affected animals and 16 control animals, were analyzed by liquid chromatography coupled with mass spectrometry (HPLC-MS) in positive and negative ion recording modes. Multivariate statistical analysis revealed two distinct clusters of metabolites in both HPLC-MS modes. Subsequent univariate statistical analysis identified 120 positive and 54 negative molecular ions that exhibited statistically significant change in concentration, with more than a 1.5-fold difference after HIE. In the HIE group, the concentrations of steroid hormones, saturated mono- and triglycerides, and phosphatidylcholines (PCs) were significantly decreased in positive mode. On the contrary, the concentration of unsaturated PCs was increased in the HIE group. Among negatively charged molecular ions, the greatest variations were found in the categories of phosphatidylcholines, phosphatidylinositols, and triglycerides. The major metabolic pathways associated with changed metabolites were analyzed for both modes. Metabolic pathways such as steroid biosynthesis and metabolism fatty acids were most affected. These results underscored the central role of glycerophospholipid metabolism in triggering systemic responses in HIE. Therefore, lipid biomarkers’ evaluation by targeted HPLC-MS research could be a promising approach for the early diagnosis of HIE. Full article

Introduction: Adolescence is a developmental stage that often coincides with increasing sleep problems. Focus groups were conducted to inform development of an adolescent eHealth sleep intervention by exploring opinions about (1) healthy sleep practices, and (2) using an eHealth intervention. Methods: Adolescents 14–18 years old experiencing symptoms of insomnia based on the Insomnia Sleep Index, with and without recurrent pain, and associated stakeholders (i.e., parents, school personnel, and health care providers) were recruited. Across six online focus groups, 24 adolescents with insomnia participated (14 pain-free, 10 with recurrent pain; 10 male, 14 female). Across seven online focus groups, 22 stakeholders participated, including 8 parents, 9 school professionals, and 5 health care providers (10 male, 8 female). Using a content analysis, subthemes were induced from transcripts. Results: Most healthy sleep practices were perceived as reasonable for adolescents to implement, except avoiding technology before bed and using bedrooms only for sleep. Three primary barriers to sleep practices were identified, including a variable schedule due to lifestyle factors, technology at night, and academics interfering with sleep, and only in the pain group, the barrier related to pain was identified. Content addressing adolescent-specific barriers was considered important to include in a sleep intervention. Desirable eHealth components included interactive features, videos, audio, and pictures to present information. A common barrier to using an eHealth sleep intervention was the program feeling too academic, with accessibility of the sleep information and strategies as a common facilitator. Conclusions: This research represents the first step in a user-centered approach to developing an adolescent eHealth sleep intervention. These results provide insights from a range of perspectives on guiding adolescents to follow healthy sleep practices. Next, these findings will be integrated in the development of an eHealth intervention for adolescents with and without recurrent pain. Full article

Background: Body image and psychosocial functioning represent central challenges during adolescence and early adulthood. Malocclusion, defined as an irregularity in the alignment of the teeth, is known to negatively influence psychological outcomes. The current study aimed to elucidate the role of malocclusion, together with age, gender, and dental class, in body image and psychological functioning. Methods: A total of 126 participants aged from 12 to 19 years old (mean: 15.87, SD: 2.35, female participants: 52.4%, male participants: 47.6%) were recruited. Participants were visited at the University Hospital of Messina, Italy, and completed a sociodemographic questionnaire, the Body Image Concern Inventory (I-BICI), and the Psychosocial Impact of Dental Aesthetics Questionnaire (PIDAQ). Results: Significant correlations were found between age, dental class, the BICI, and the PIDAQ. In particular, age showed a positive and significant correlation with PIDAQ—total score. The correlations between occlusal status and the BICI variables were all significant and positive. All correlations between occlusal status and the PIDAQ variables were all significant and positive, except for dental self-confidence. The correlations between the variables of the PIDAQ and BICI instruments were all significant and positive, except for dental self-confidence, where the directions were significant and negative. Moreover, age, gender, and occlusal status predicted BICI and PIDAQ scores. Age was a positive predictor for PIDAQ self-confidence, gender for BICI and PIDAQ total scores, along with dysmorphic symptoms, social impact, psychological impact, and aesthetic concerns. Several significant gender differences were highlighted by the analyses, with higher scores in the female group on all the BICI variables, except symptom interference, and all the PIDAQ variables, except dental self-confidence. Conclusions: Malocclusion appeared to play a central role in the psychological, representational, and psychosocial life of the participants. This research suggests that malocclusion and dental issues influence the psychological, representational, and psychosocial life of adolescents. Further research is required to examine the psychological impact of dental problems. Full article