Children, Volume 11, Issue 5 (May 2024) – 97 articles

The rising prevalence of obesity in children calls for new strategies for the provision of effective care by a multidisciplinary team. Telemedicine has overall proven to be an effective tool for promoting a healthy lifestyle. The main objective of the current paper is to present the protocol of our ongoing CardioMetabolic Prevention (CAMP) study and compare its design with published studies on telemedicine in paediatric obesity. Additionally, we analysed the preliminary anthropometric and laboratory data to test the efficacy of our 12-week intensive program that combines in-person and telemedicine support. The program demonstrated a positive impact on body mass index (BMI) and its z-scores in 21 adolescents, and BMI in 18 participating parents. However, we found no effect on body composition, waist circumference, cardiometabolic parameters, or fitness evaluated via a 6-min walk test in adolescents. In conclusion, the combination of in-person and telemedicine intensive support over 35 h delivered by a multidisciplinary team can be beneficial not only for adolescents with obesity but also for their parents. The ongoing CAMP study serves as a platform for precision medicine in future decisions regarding anti-obesity medication in adolescents with obesity. Full article

Recently, there has been a shift in smoking patterns among adolescents, with a decrease in the prevalence of conventional cigarette smoking and an increase in the use of electronic cigarettes (e-cigarettes). The harmful effects of e-cigarettes are remarkable, highlighting the need for proactive interventions for adolescent users and smoking cessation that consider the characteristics of both conventional cigarette smokers and e-cigarette users. This study aims to investigate the smoking status of adolescent conventional cigarette and e-cigarette smokers and to analyze the predictors of their smoking cessation plans (SCPs) based on the transtheoretical model. Self-rated health, prior smoking cessation education, consciousness-raising, and dramatic relief as types of experiential processes of change, and formation of helping relationships as a type of behavioral process of change significantly differed according to the type of cigarette behavior among adolescents. The predictors of SCP among adolescents were perceived pros of smoking and academic performance among conventional cigarette smokers and behavioral process of change, perceived pros of smoking, and economic status among e-cigarette users. This study identified differences in the characteristics and predictors of SCP. Strategies tailored to each specific adolescent smoking population are further required to promote smoking cessation. Full article

(1) Background: Sepsis management in children is crucial, especially in emergency services. This study aims to evaluate Thai physicians’ knowledge gaps in the emergency management of sepsis in children and to evaluate their adherence to the current sepsis clinical practice guidelines. (2) Methods: This is a cross-sectional survey of Thai physicians’ management of septic shock in children. The survey was conducted through online questionnaires from March 2019–April 2019. (3) Results: Of the 366 responders, 362 (98.9%) were completed. Most of the responders were general practitioners (89.2%) and pediatricians (10.8%). The time from positive sepsis screening to being evaluated by physicians within 15 min was reported by 83.9%. The most common choice of fluid resuscitation was normal saline solution (77.3%). The practice of a fluid loading dose (20 mL/kg) consistent with the guidelines was 56.3%. The selection of the first vasoactive agent in warm shock (norepinephrine) and cold shock (epinephrine) according to recommendations in the guidelines was 74.3% and 36.2%, respectively. There was a significant difference between general practitioners and pediatricians in terms of knowledge about initial fluid resuscitation and the optimal vasoactive agent in cold shock (p-value < 0.001). In the multivariate model, factors associated with the guideline-based decision-making of vasoactive agent choice for cold shock were specialist training (pediatrician) and the completion of sepsis management training certification, with adjusted odds ratios (AORs) of 7.81 and 2.96, but working experience greater than ten years was inconsistent with the guideline-based decision-making (AOR 0.14). (4) Conclusions: Thai clinicians were unfamiliar with pediatric sepsis therapy standards, specifically the quantity of early fluid resuscitation and the appropriate vasoactive medications for cold shock. To encourage adherence to the guidelines, we propose a regularly required training course on pediatric sepsis management. Full article

The main subject of the current review is a specific subtype of headache, which is related to shunt over-drainage and slit ventricle syndrome, in pediatric patients harboring an implanted shunt device for the management of hydrocephalus. This clinical entity, along with its impairment regarding the quality of life of the affected individuals, is generally underestimated. This is partly due to the absence of universally agreed-upon diagnostic criteria, as well as due to a misunderstanding of the interactions among the implicated pathophysiological mechanisms. A lot of attempts have been performed to propose an integrative model, aiming at the determination of all the offending mechanisms of the shunt over-drainage syndrome, as well as the determination of all the clinical characteristics and related symptomatology that accompany these secondary headaches. This subcategory of headache, named postural dependent headache, can be associated with nausea, vomiting, and/or radiological signs of slim ventricles and/or subdural collections. The ultimate goal of our review is to draw clinicians’ attention, especially that of those that are managing pediatric patients with permanent, long-standing, ventriculoperitoneal, or, less commonly, ventriculoatrial shunts. We attempted to elucidate all clinical and neurological characteristics that are inherently related to this type of headache, as well as to highlight the current management options. This specific subgroup of patients may eventually suffer from severe, intractable headaches, which may negatively impair their quality of daily living. In the absence of any other clinical condition that could be incriminated as the cause of the headache, shunt over-drainage should not be overlooked. On the contrary, it should be seriously taken into consideration, and its management should be added to the therapeutic armamentarium of such cases, which are difficult to be handled. Full article

This narrative review study investigates the correlations between obesity, allergies, and sleep-disordered breathing in pediatric populations. Searches for pertinent articles were conducted on the Medline PubMed Advanced Search Builder, Scopus, and Web of Science databases from unlimited to April 2024. Sleep-disordered breathing causes repeated upper airway obstructions, leading to apneas and restless sleep. Childhood obesity, which affects around 20% of children, is often associated with sleep-disordered breathing and allergies such as asthma and allergic rhinitis. It is distinguished between diet-induced obesity (resulting from excess of diet and physical inactivity) and genetic obesity (such as is seen in Down syndrome and Prader–Willi syndrome). In children with diet-induced obesity, chronic inflammation linked to weight can worsen allergies and increase the risk and severity of asthma and rhinitis. Furthermore, the nasal congestion typical of rhinitis can contribute to upper respiratory tract obstruction and obstructive sleep apnea. A vicious circle is created between asthma and sleep-disordered breathing: uncontrolled asthma and sleep-disordered breathing can worsen each other. In children with genetic obesity, despite alterations in the immune system, fewer allergies are observed compared to the broader population. The causes of this reduced allergenicity are unclear but probably involve genetic, immunological, and environmental factors. Additional research is necessary to elucidate the underlying mechanisms. The present narrative review study emphasizes the importance of jointly evaluating and managing allergies, obesity, and obstructive sleep apnea in children considering their close interconnection. Full article

Sepsis is a life-threatening condition that affects 1.2 million children annually. Although there are several criteria for diagnosing this condition, signs are often nonspecific, and identifying sepsis is challenging. In this context, presepsin (P-SEP) seems to be a promising new biomarker since its plasma levels increase earlier than other sepsis-related proteins and its measurement is faster. We enrolled 157 minors who presented to the Pediatric Emergency Department of Agostino Gemelli Hospital with fever and suspected sepsis. Biochemical, anamnestic, and clinical data were collected. Viral agents were identified as the causative factor in 64 patients, who had an average P-SEP value of 309.04 pg/mL (SD ± 273.2), versus an average P-SEP value of 526.09 pg/mL (SD ± 657) found in 27 bacterial cases (p value: 0.0398). Four cases of overt sepsis had an average P-SEP value of 3328.5 pg/mL (SD ± 1586.6). The difference in P-SEP levels in viral versus bacterial infections was found to be statistically significant; therefore, P-SEP may have a central role in the evaluation of febrile children, helping clinicians distinguish between these two etiologies. Furthermore, amongst the cases of confirmed sepsis, P-SEP was always greater than 2000 pg/mL, while C-reactive protein and procalcitonin values appeared lower than what was considered significant. Full article

Systemic Inflammatory Response Syndrome (SIRS) is associated with significant morbidity and mortality in full-term newborns. This study aimed to evaluate the predictive value of the Neutrophil-to-Lymphocyte Ratio (NLR), Derived Neutrophil-to-Lymphocyte Ratio (dNLR), Platelet-to-Lymphocyte Ratio (PLR), Neutrophil, Lymphocyte, and Platelet Ratio (NLPR), AST-to-Platelet Ratio Index (APRI), and Systemic Immune–Inflammation Index (SII) in identifying the risk for SIRS development in full-term newborns. Conducted between January 2023 and January 2024, this observational cohort study compared full-term newborns diagnosed with SIRS with newborns without SIRS, measuring the inflammatory markers within the first day of life and three days post-birth. The study included 229 newborns, 81 with SIRS and 148 controls without SIRS. Statistically significant differences were observed in NLR (3.81 vs. 2.20, p < 0.0001), PLR (68.12 vs. 52.30, p < 0.0001), and liver enzymes (AST 40.96 U/L vs. 31.58 U/L, ALT 34.66 U/L vs. 22.46 U/L, both p < 0.0001) between the groups. The NLPR demonstrated substantial diagnostic value, with a sensitivity of 78.36% and specificity of 83.52% at 72 h (p < 0.0001). Regression analysis highlighted that the NLPR and SII were strongly predictive of SIRS, with the NLPR showing over three-times higher SIRS risk (HR 3.29, p < 0.0001) and SII indicating nearly 3.5 times the risk (HR 3.47, p < 0.0001). The NLPR, APRI, and SII showed similar prediction values to CRP levels measured on the first and third days of life (HR 3.16). Inflammatory markers like NLR, PLR, and systemic indices such as NLPR and SII, alongside liver function tests, are significant predictors of SIRS in full-term newborns. These findings support the integration of these markers into routine neonatal care, allowing for early identification and potentially improved management of newborns at risk for SIRS, thereby enhancing clinical outcomes. Full article

Ventilator-associated pneumonia (VAP) is common in Pediatric Intensive Care Units. Although early detection is crucial, current diagnostic methods are not definitive. This study aimed to identify lung ultrasound (LUS) findings and procalcitonin (PCT) values in pediatric patients with VAP to create a new early diagnosis score combined with the Clinical Pulmonary Infection Score (CPIS), the CPIS-PLUS score. Prospective longitudinal and interventional study. Pediatric patients with suspected VAP were included and classified into VAP or non-VAP groups, based on Centers of Disease Control (CDC) criteria for the final diagnosis. A chest-X-ray (CXR), LUS, and blood test were performed within the first 12 h of admission. CPIS score was calculated. A total of 108 patients with VAP suspicion were included, and VAP was finally diagnosed in 51 (47%) patients. CPIS-PLUS showed high accuracy in VAP diagnosis with a sensitivity (Sn) of 80% (95% CI 65–89%) and specificity (Sp) of 73% (95% CI 54–86%). The area under the curve (AUC) resulted in 0.86 for CPIS-PLUS vs. 0.61 for CPIS. In conclusion, this pilot study showed that CPIS-PLUS could be a potential and reliable tool for VAP early diagnosis in pediatric patients. Internal and external validations are needed to confirm the potential value of this score to facilitate VAP diagnosis in pediatric patients. Full article

Brain injury resulting from adverse events during pregnancy and delivery is the leading cause of neonatal morbidity and disability. Surviving neonates often suffer long-term motor, sensory, and cognitive impairments. Birth asphyxia is among the most common causes of neonatal encephalopathy. The integration of ultrasound, including Doppler ultrasound, and near-infrared spectroscopy (NIRS) offers a promising approach to understanding the pathology and diagnosis of encephalopathy in this special patient population. Ultrasound diagnosis can be very helpful for the assessment of structural abnormalities associated with neonatal encephalopathy such as alterations in brain structures (intraventricular hemorrhage, infarcts, hydrocephalus, white matter injury) and evaluation of morphologic changes. Doppler sonography is the most valuable method as it provides information about blood flow patterns and outcome prediction. NIRS provides valuable insight into the functional aspects of brain activity by measuring tissue oxygenation and blood flow. The combination of ultrasonography and NIRS may produce complementary information on structural and functional aspects of the brain. This review summarizes the current state of research, discusses advantages and limitations, and explores future directions to improve applicability and efficacy. Full article

Onasemnogene abeparvovec (OA) is the approved intravenous gene therapy for the treatment of spinal muscular atrophy (SMA). A functional copy of the human SMN1 gene was inserted into the target motor neuron cells via a viral vector, AAV9. In clinical trials, OA was infused through a peripheral venous catheter, and no data are available on central catheter use. Recently, we had a case where OA was administered directly into the right atrium via a peripherally inserted central catheter (PICC) instead of a peripheral line, as recommended. The patient was a female child aged 4 months, diagnosed as SMA type I. For practical reasons, a dose of OA according to the weight of the patient (1.1 × 10¹⁴ vectorial genomes/kg) was administered via PICC in 1 h, as the product information recommends. The drug was well tolerated, with no hypersensitivity reactions or initial elevation of transaminases or other adverse effects. To our knowledge, this is the first case reported where OA was administered via a central line. This type of administration is not contraindicated, but it is not specifically contemplated or recommended. It is unknown whether central line administration could have any implications for transduction efficiency and immunogenicity. Future studies should clarify these aspects, as each gene therapy has a specific optimal dose recorded that depends on the site and route of administration of the drug, the AAV variant and the transgene. Full article

The health status of Hungary’s population is unfavorable, with significant differences in health indicators not only compared to the EU15 but also to the Visegrad countries. Unfavorable health indicators can be disproportionate and particularly affect vulnerable groups, such as people with disabilities. In this study, we set out to compare the health behavior of disabled youth and youth with typical development in Hungary. We also aimed to compare the health behavior of adolescents in the Visegrad countries. The eating habits of both groups of young people we examined are unfavorable. Adolescents with disabilities experience a significantly higher rate of school stress than children with typical development in Hungary. The prevalence of somatic complaints and parameters of poor mental well-being are significantly higher in Hungary than in the other Visegrad countries. The results indicate that additional interventions are needed in Hungary and that differentiated, professional health promotion is needed for young people with disabilities. The researchers recommend extending the study to disabled adolescents living in Visegrad countries, on the basis of which an injury-specific health promotion methodology could be developed with international interprofessional cooperation. Full article

(1) Background: Bowel management contributes throughout the pathway of care for children with Hirschsprung. Preoperative bowel management prepares the child and family for the pull-through surgery. Perioperative bowel management supports early recovery and tailored bowel management in the follow-up supports the achievement of social continence. (2) Methods: We conducted a cross-sectional assessment of our institutional bowel management program to illustrate the pre-, peri- and postoperative bowel management strategies. (3) Results: A total of 31 children underwent primary pull-through, 23 without a stoma and 8 with a stoma, at a median age of 9 months. All children without a stoma were prepared for surgery by using rectal irrigations. Children with a stoma were prepared for surgery with a transfer of stoma effluent. Transanal irrigation supported early recovery. (4) Conclusions: Bowel management is a key pillar of the management of children with Hirschsprung disease. Incorporating bowel management in the pathway of care facilitates primary pull-through and supports perioperative recovery. Full article

Hirschsprung disease is a life-long condition that can have a significant impact on both children and their families. This article explores the role of the clinical nurse specialist and the support they can provide from initial diagnosis through the patient’s surgical journey and right through to transition into adult services. Through the provision of education, training, signposting of social and psychological support, and linking in with community-based services, the clinical nurse specialist can help the child and family to limit that impact of the disease. Full article

Abusive head trauma (AHT) is an extreme form of physical child abuse, a subset of which is shaken baby syndrome (SBS). While traumatic injury in children is most readily observed as marks of contusion on the body, AHT/SBS may result in internal injuries that can put the life of the child in danger. One pivotal sign associated with AHT/SBS that cannot be spotted with the naked eye is retinal injury (RI), an early sign of which is retinal hemorrhage (RH) in cases with rupture of the retinal vasculature. If not addressed, RI can lead to irreversible outcomes, such as visual loss. It is widely assumed that the major cause of RI is acceleration–deceleration forces that are repeatedly imposed on the patient during abusive shaking. Still, due to the controversial nature of this type of injury, few investigations have ever sought to delve into its biomechanical and/or biochemical features using realistic models. As such, our knowledge regarding AHT-/SBS-induced RI is significantly lacking. In this mini-review, we aim to provide an up-to-date account of the traumatology of AHT-/SBS-induced RI, as well as its biomechanical and biochemical features, while focusing on some of the experimental models that have been developed in recent years for studying retinal hemorrhage in the context of AHT/SBS. Full article

Empirical evidence supports the simultaneous relationship between parental warmth and child-to-parent violence (CPV). However, no studies analyze the lagged effects of perceived parental warmth and the potential impact of cognitive mechanisms legitimizing immoral behavior on this relationship. This study aimed to examine the mediating role of moral disengagement strategies (reconstruction of immoral behavior, obscuring personal responsibility, misrepresenting injurious consequences, and blaming the victim) in the relationship between the perceived paternal and maternal warmth dimensions (warmth-communication and criticism-rejection) during childhood and CPV towards the father and mother. The sample included 2122 Spanish adolescents (57.7% female) aged 13 to 18 years. The Child-to-Parent Violence Questionnaire (CPV-Q), the Mechanisms of Moral Disengagement Scale (MMDS-S), and the Warmth Scale were used as assessment instruments. The results indicate that paternal and maternal warmth-communication is negatively associated with CPV, whereas paternal and maternal criticism-rejection and moral disengagement strategies are positively related to CPV. The mediation models show that the reconstruction of immoral behavior plays a crucial mediation role in the relationship between paternal and maternal warmth-communication and CPV as well as in the relationship between maternal criticism-rejection and CPV. The results emphasize the necessity of early prevention programs for parents promoting positive parenting practices, including parental warmth, to foster children’s adaptive socio-cognitive development. In addition, addressing moral disengagement in adolescents could help prevent or stop a pattern of violent behavior toward parents. Full article

Cough is a common presenting symptom for patients in a primary care setting and significantly impacts a patient’s quality of life. Cough involves a complex reflex arc beginning with the stimulation of sensory nerves that function as cough receptors that stimulate the cough center in the brain. This “cough center” functions to receive these impulses and produce a cough by activating efferent nervous pathways to the diaphragm and laryngeal, thoracic, and abdominal musculature. Drugs that suppress the neural activity of cough are non-specific as those treatments are not directed toward pathogenic causes such as inflammation and oxidative stress. Moreover, they block a reflex called the watchdog of the lung and have a defense mechanism. Acute respiratory infections of the upper and lower airways most commonly cause acute cough. In contrast, the most common causes of chronic cough are upper airway cough syndrome, asthma, and gastroesophageal reflux disease, all associated with an inflammatory reaction at the level of the cough receptors. The use of natural compounds or herbal drugs such as carob syrup, dry blackcurrant extract, dry extract of caraway fruit, dry extract of ginger rhizome, dry extract of marshmallow root, and dry extract of ivy leaves, to name a few, not only have anti-inflammatory and antioxidant activity, but also act as antimicrobials, bronchial muscle relaxants, and increase gastric motility and empty. For these reasons, these natural substances are widely used to control cough at its deep roots (i.e., contrasting its causes and not inhibiting the arch reflex). With this approach, the lung watchdog is not put to sleep, as with peripheral or central inhibition of the cough reflex, and by contrasting the causes, we may control cough that viruses use at self-advantage to increase transmission. Full article

Fundamental movement skills (FMS), considered as building blocks of movement, have received growing interest due to their significant impact on both present and future health. FMS are categorized into locomotor, object control and stability skills. While there has been extensive research on assessing the proficiency and reliability of locomotor and object control skills, stability skills have received comparatively less attention. For this reason, this study aimed to assess the test–retest, intrarater and interrater reliability of five stability skills included in the Alfamov app. The performance of eighty-four healthy primary school children (60.8% girls), aged 6 to 12 years (mean ± standard deviation of 8.7 ± 1.8 years), in five stability skills was evaluated and scored by four raters, including two experts and two novices. The Alfamov tool, integrating various process-oriented tests, was used for the assessment. Reliability analyses were conducted through the computation of the intraclass correlation coefficient (ICC) along with the corresponding 95% confidence intervals. Good-to-excellent intrarater reliability, excellent interrater reliability and moderate-to-good reliability in the test–retest were achieved. The results proved that Alfamov is a robust test for evaluating stability skills and can be suitable for use by different professionals with less experience in assessing children’s motor competence. Full article

Congenital long QT syndrome (LQTS) represents a disorder of myocardial repolarization characterized by a prolongation of QTc interval on ECG, which can degenerate into fast polymorphic ventricular arrhythmias. The typical symptoms of LQTS are syncope and palpitations, mainly triggered by adrenergic stimuli, but it can also manifest with cardiac arrest. At least 17 genotypes have been associated with LQTS, with a specific genotype–phenotype relationship described for the three most common subtypes (LQTS1, -2, and -3). β-Blockers are the first-line therapy for LQTS, even if the choice of the appropriate patients needing to be treated may be challenging. In specific cases, interventional measures, such as an implantable cardioverter-defibrillator (ICD) or left cardiac sympathetic denervation (LCSD), are useful. The aim of this review is to highlight the current state-of-the-art knowledge on LQTS, providing an updated picture of possible diagnostic algorithms and therapeutic management. Full article

Asthma, a prevalent chronic respiratory condition affecting millions of children globally, presents a significant health challenge. This review critically examines the developmental pathways of asthma in children, focusing on genetic, environmental, and early-life determinants. Specifically, we explore the impact of prenatal and postnatal factors such as maternal smoking, nutrition, respiratory infections, and allergen exposure on asthma development. Our analysis highlights the intricate interplay of these influences and their contribution to childhood asthma. Moreover, we emphasize targeted strategies and interventions to mitigate its burden, including genetic counseling for at-risk families, environmental modifications to reduce triggers, and early-life immunomodulation. By delving into these preventive measures and interventions, our review aims to provide actionable insights for healthcare professionals in developing tailored strategies to address the complexities of childhood asthma. In summary, this article offers a detailed examination of asthma development in children, aiming to enhance understanding and inform efforts to reduce its burden through targeted interventions. Full article

Background: Clubfoot is a common congenital deformity. The Ponseti technique, involving early corrective manipulations followed by applying long leg casts and Achilles tenotomy, is widely accepted as the preferred treatment. Rapid tendon healing after surgery has been documented, but the aspect regarding long-term tendon structure and properties is not known. Three cases of Achilles tendon rupture in adolescents previously treated for clubfoot have been described in the literature. As rupture is a rare event in this age group, a possible correlation with previous surgery has been hypothesized. The primary aim of the study was to compare the ultrasound findings of the Achilles tendon in patients treated for clubfoot, between patients treated with casting alone and with patients who underwent surgery (percutaneous tenotomy or Z-plasty lengthening). Methods: There were 22 asymptomatic patients (34 feet) with a median age of 12 years, previously treated for clubfoot, that were recruited for this study; the patients underwent an Achilles tendon ultrasound examination during a follow-up outpatient visit. Results: A greater thickness and increased number of structural alterations with the presence of hypoechoic areas of the operated tendons compared with those treated with plaster alone were observed (p-value: 0.0498 and <0.001, respectively). These ultrasound findings were indicative of tendon suffering, as seen in tendinopathies. Conclusions: The presence of ultrasound alterations in asymptomatic patients operated on for clubfoot requires careful control of the extrinsic factors of tendinopathy in order to reduce the risk of subcutaneous rupture. Full article

Background: This systematic review aggregates research on psychotherapeutic interventions for Post-Traumatic Stress Disorder (PTSD) in children and adolescents. PTSD in this demographic presents differently from adults, necessitating tailored therapeutic approaches. In children and adolescents, PTSD arises from exposure to severe danger, interpersonal violence, or abuse, leading to significant behavioral and emotional disturbances that jeopardize long-term development. The review focuses on describing PTSD within two age groups, children (6 to 12 years) and adolescents (12 to 18 years), while evaluating the effectiveness of various clinical interventions aimed at this condition. Methods: Utilizing the PRISMA guidelines, this review systematically examines studies that assess clinical interventions for PTSD in the younger population. Results: Key symptoms of PTSD in children and adolescents include avoidance, overstimulation, flashbacks, depression, and anxiety. The review identifies several effective treatments, including Cognitive Behavioral Therapy (CBT), Trauma-Focused CBT (TF-CBT), Eye Movement Desensitization and Reprocessing (EMDR), Systemic Therapy, Play Therapy, Exposure Therapy, Relaxation Techniques, and Psychodynamic Psychotherapy. Particularly, TF-CBT is highlighted as the most effective and commonly used method in treating childhood and adolescent PTSD, as supported by most of the studies reviewed. Conclusions: A significant outcome of this study is the short-term effectiveness of CBT in reducing PTSD symptoms in children and adolescents. The findings underline the importance of psychotherapeutic interventions and mark a substantial advancement in understanding PTSD in young populations. It is crucial for practitioners to integrate various psychotherapeutic strategies into their practice to improve patient outcomes and treatment efficacy. Full article

The advancement of genetic knowledge and the discovery of an increasing number of genetic disorders has made the role of the geneticist progressively more complex and fundamental. However, most genetic disorders present during childhood; thus, their early recognition is a challenge for the pediatrician, who will be also involved in the follow-up of these children, often establishing a close relationship with them and their families and becoming a referral figure. In this review, we aim to provide the pediatrician with a general knowledge of the approach to treating a child with a genetic syndrome associated with dysmorphic features. We will discuss the red flags, the most common manifestations, the analytic collection of the family and personal medical history, and the signs that should alert the pediatrician during the physical examination. We will offer an overview of the physical malformations most commonly associated with genetic defects and the way to describe dysmorphic facial features. We will provide hints about some tools that can support the pediatrician in clinical practice and that also represent a useful educational resource, either online or through apps downloaded on a smartphone. Eventually, we will offer an overview of genetic testing, the ethical considerations, the consequences of incidental findings, and the main indications and limitations of the principal technologies. Full article

The aim of this study was to develop and validate a predictive model for the establishment of skin-to-skin contact immediately after birth. A descriptive cross-sectional study was conducted during the last trimester of 2022 and the first trimester of 2023 with women who had given birth in Spain. A questionnaire containing sociodemographic, psychosocial, and health variables referring to the mother and the newborn, as well as the Bond and Attachment questionnaire (VAMF, for its name in Spanish) for the analysis of the mother–child bond and attachment, were administered. A multivariate analysis was performed, and areas under the ROC curve (AUC) with their 95% confidence intervals (CI) and the predictive characteristics of these models were estimated. In total, 1077 women participated. The prevalence of early skin-to-skin contact after delivery was 50.2% (468) in the derivation cohort and 49.8% (464) in the validation cohort. Multivariate analysis showed that prematurity, type of delivery, and birth experience were statistically significant, so they were included in the model (p ≤ 0.05). The predictive ability (AUC ROC) was good in both the derivation cohort, yielding 0.92 (95% CI: 0.89–0.95), and in the validation cohort, yielding 0.89 (95% CI: 0.85–0.93). This study developed a predictive model identifying factors facilitating early skin-to-skin contact between a mother and her newborn immediately after birth. Full article

In early childhood, children are extremely susceptible to the acquisition of habits and the establishment of health-promoting habits. Therefore, the patterns, routines, and rules transmitted and expected by the adults surrounding the child are of paramount importance and can correlate with the level of their health literacy. Our cross-sectional, quantitative, exploratory study aimed to examine the relationships between parental health literacy and preschool children’s health-related habits, using simple, non-random sampling (n = 598). In addition to the sociodemographic characteristics, the measuring tool we compiled included the standardized European Health Literacy Survey Questionnaire (HLS-EU-Q16), as well as a set of questions containing 30 statements suitable for exploring children’s habit systems. The health literacy of the parents involved in our study proved to be more favorable than that of the general population. Regarding children’s habit systems, we found significant differences in several areas by age group (p < 0.05) and gender (p < 0.05). The levels of parental health literacy (0.003 ≤ p ≤ 0.048) and parents’ education (p < 0.05) show a correlation with the children’s health-related habit systems: the indicators of children with parents who have a higher level of health literacy and a higher level of education are more favorable in terms of established habits. In the long term, the formation of health-promoting habits may facilitate the internalization of favorable health behavior motives for the future, contributing to the establishment of positive physical, mental, and social health in adulthood. Full article

Autosomal dominant polycystic kidney disease (ADPKD) is an inherited disorder characterized by renal tubular cystic dilatations. The cysts can develop anywhere along the nephron, and over time the cystic dilatation leads to kidney enlargement. On the other hand, the cysts begin to reduce the number of functional nephrons as a consequence of cystic expansion that further contributes to the decline in renal function over the years. The pressure exerted by the dilated cysts leads to compensatory mechanisms that further contribute to the decline in renal function. These structural changes are responsible of glomerular hyperfiltration states, albuminuria, proteinuria, and hematuria. However, the presentation of ADPKD varies in children, from a completely asymptomatic child with incidental ultrasound detection of cysts to a rapidly progressive disease. There have been reports of early onset ADPKD in children younger than 2 years that showed a more rapid decline in renal function. ADPKD is caused by a mutation in PKD1 and PKD2 genes. Today, the PKD1 gene mutation seems to account for up to 85% of the cases worldwide, and it is associated with worse renal outcomes. Individuals with PKD2 gene mutation seem to present a milder form of the disease, with a more delayed onset of end-stage kidney disease. The cardinal sign of ADPKD is the presence of renal cysts during renal ultrasound. The current guidelines provide clinicians the recommendations for genetic testing in children with a positive family history. Given that the vast majority of children with ADPKD present with normal or supra-normal kidney function, we explored the glomerular filtration rates dynamics and the renal ultrasound-adjusted percentiles. In total, 14 out of 16 patients had kidney percentiles over 90%. The gene mutations were equally distributed among our cohort. In addition, we compared the modified Schwartz formula to the quadratic equation after adjusting the serum creatinine measurements. It seems that even though children with ADPKD have enlarged kidneys, the renal function is more likely normal or near normal when the quadratic estimation of glomerular filtration rate is used (qGFR tended to be lower, 111.95 ± 12.43 mL/min/1.73 m² when compared to Schwartz eGFR 126.28 ± 33.07 mL/min/1.73 m², p = 0.14). Also, when the quadratic equation was employed, not even a single patient reached the glomerular hyperfiltration threshold. The quadratic formula showed that glomerular filtration rates are linear or slightly decreasing after 1 year of follow-up (quadratic ΔeGFR = −0.32 ± 5.78 mL/min/1.73 m²), as opposed to the Schwartz formula that can falsely classify children in a hyperfiltration state (ΔeGFR = 7.51 ± 19.46 mL/min/1.73 m²), p = 0.019. Full article

Aim: This systematic review and meta-analysis aimed to evaluate the success rates of pulpotomy treatment for irreversible pulpitis in primary teeth. Methods: This study was registered and conducted according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses Protocols. Relevant studies published between January 1980 and April 2023 were identified across eight online databases and two paediatric dentistry textbooks. Study selection, data extraction, and quality assessment were conducted by multiple investigators independently. Data analysis involved single-arm and two-arm meta-analyses, leave-one-out sensitivity analysis, meta-regression, and assessment of publication bias. The risks of bias were evaluated using the Cochrane Collaboration’s assessment tools. The levels of evidence were determined using the Oxford Centre for Evidence-Based Medicine (OCEBM) tool. Results: Five primary studies were included. The weighted mean overall success rates at 6-month and 12-month follow-ups were 97.2% and 94.4%, respectively. Two-arm meta-analysis revealed no significant difference (p > 0.05) between the use of mineral trioxide aggregate (MTA) and non-MTA bioceramic-based materials as pulpotomy medicaments. The sample size of each study did not affect the degree of data heterogeneity. Egger’s test revealed no significant publication bias. Conclusions: Pulpotomy may be regarded as an alternative modality for treating primary teeth with irreversible pulpitis. Nevertheless, future well-designed trials and extended follow-up periods are warranted. Full article

This study aimed to investigate the impact of an 8-week aerobic dance intervention on postural balance in children. Forty-one children, aged 9 to 11, were randomly assigned to either an aerobic dance group (ADG) or a control group (CG) from a primary school. Postural balance was assessed using center of pressure (CoP) excursions before and after the 8-week intervention period. Evaluations were conducted on both firm and foam surfaces in bipedal and unipedal stances under open-eyes (OE) and closed-eyes (CE) conditions, as well as on both medial–lateral (ML) and anterior–posterior (AP) surfaces in a bipedal stance under OE conditions. The ADG exhibited significantly decreased CoP_Vm values during firm bipedal CE, unipedal OE, foam bipedal OE and CE, and foam unipedal OE (p < 0.005). This study suggests that aerobic dance intervention improved postural balance in children, showcasing adaptability and improved stability under various conditions. Full article

Juvenile myasthenia gravis (MG) is a rare autoimmune neuromuscular disease, often treated with anticholinesterases, corticosteroids, and immunosuppressants. However, optimal treatment durations remain unclear. This study investigated the clinical characteristics and treatment of juvenile MG, including medication duration. The administration period for all drugs, immunosuppressants, and prednisolone at doses greater than 0.35 mg/kg daily was extracted retrospectively from medical records. Nineteen participants (8 boys, 11 girls) aged 8 months to 14 years (median, 2.5 years) at onset were identified. Fourteen patients (73.7%) had ocular MG and five (26.3%) had generalized MG. Drug treatment was conducted in 18 cases; however, 7 patients did not complete the treatment. Among the patients who completed drug treatment, the duration of treatment ranged from 11 to 100 months (median, 47 months). In the six patients treated with continuous administration of prednisolone or immunosuppressants, the treatment duration ranged from 33 to 99 months (median, 56 months). No severe adverse effects requiring hospitalization were reported. The patients treated with prednisolone or immunosuppressants required at least 33 months of treatment. These results will help develop protocols for juvenile MG treatment. Full article

This study aims to evaluate the process of neonatal phenylketonuria (PKU) screening from birth to admission to the pediatric metabolism polyclinic, determining delays in the screening program and the factors influencing them. This study was conducted during 2021–2023. Blood collection dates, results, and probable parameters causing delays in the screening program were recorded. This study included 118 infants. Admission time to the polyclinic was (mean ± SD) 25.2 ± 12.6 days (min–max: 3.4–78.9 days). Admission time was significantly high for refugees, those whose parents were consanguineous, and those who had more heel-prick blood samples taken (p < 0.001, p = 0.005, and p < 0.001, respectively). The first heel-prick blood phenylalanine (phe) level was significantly negatively correlated with the admission time (p < 0.001). Patients’ admission time whose first blood phe level < 240 μmol/L was statistically significantly higher than in those with ≥240 μmol/L (p < 0.001). We determined that there were delays in PKU screening from birth to admission to the polyclinic. Being a refugee, the presence of consanguineous marriages, the increase in the number of heel-prick tests, and blood phe levels at a range of 120–240 μmol/L were the factors that played a role in this delay. Taking steps to reduce the impact of these parameters can prevent delays in newborn PKU screening and increase the success of the screening program. Full article

The treatment of patients with colorectal disorders requires care from a wide variety of medical and surgical specialties over the course of their lifetime. This is ideally handled by a collaborative center which facilitates the assessment and development of patient care among multiple specialties which can enhance the quality and implementation of treatment plans, improve communication among different specialties, decrease morbidity, and improve patient satisfaction and outcomes. This collaborative approach can serve as a model for other parts of medicine requiring a similar multi-disciplinary and integrated method of care delivery. We describe the process, as well as the lessons learned in developing such a program. Full article