This study compared birth weight (BW) and associated gestational and maternal determinants among newborns from high- and low-altitude regions in Catamarca, northwestern Argentina. A retrospective population-based analysis was conducted using vital records from 1990 to 2010, including 485 births from high-altitude areas (HA; 3,323 m above sea level) and 65,538 births from low-altitude areas (LA; 520 m above sea level). Neonatal outcomes were classified according to international standards: low birth weight (LBW; <2,500 g) and small for gestational age (SGA; <10th percentile). Mann–Whitney U tests, chi-square tests, generalized linear models, and logistic regression was used. Newborns from HA exhibited significantly lower BW and a higher frequency of LBW and SGA compared with those from LA. BW was strongly influenced by gestational age, with preterm birth being the main predictor of reduced weight; the altitude–prematurity interaction showed a partial attenuation of this effect in HA newborns. LBW was associated with preterm pregnancy and younger maternal age, whereas high altitude and post-term pregnancy were associated with SGA. Additionally, younger maternal age and low educational level increased the risk of SGA. These findings demonstrate the combined influence of altitude, fetal maturation, and sociodemographic factors on neonatal outcomes and underscore the need for targeted perinatal strategies in high-altitude populations.
Background: Human Parvovirus B19 (PVB19) is a globally distributed virus associated with a wide range of clinical manifestations, from mild erythema infectiosum to severe, life-threatening complications including myocarditis. Epidemiological data from early 2024 indicate an increasing prevalence of PVB19 infections in Europe, raising concerns regarding its potential complications in pediatric populations. Objective: This study describes three pediatric cases of severe PVB19 infection. Cases presentation: We retrospectively analyzed three cases of PVB19 infection diagnosed at a tertiary care hospital in Bologna, Italy, between March and June 2024 who presented with viral myocarditis. They all required intensive care management, with one patient experiencing cardiac arrest and requiring mechanical ventilation. Despite the severity of their conditions, all three recovered following inotropic support and immunoglobulin therapy. All patients tested positive for PVB19 DNA, and no alternative viral causes were identified. Conclusions: This case series underscores the wide clinical spectrum of PVB19 infection and its potential for severe, life-threatening complications in pediatric patients. Considering the recent rise in PVB19 cases, clinicians should maintain a high index of suspicion for myocarditis in children presenting with severe symptoms. Early recognition and prompt supportive management are crucial in improving outcomes. Further research may help to better understand PVB19 pathogenesis and develop targeted preventive strategies.
Background: Feeding and eating disorders, including anorexia nervosa, are among the leading causes of malnutrition in industrialized countries. Hepatic involvement is an increasingly recognized complication in these patients.The aim of this study was to investigate the prevalence and severity of liver dysfunction in pediatric and adult patients with anorexia nervosa and to evaluate the effect of nutritional rehabilitation over a 12-month follow-up period. Methods: A retrospective single-center study was conducted, including pediatric and adult patients. Liver involvement was assessed via biochemical markers and abdominal ultrasonography. These parameters were analyzed in relation to nutritional status and duration of illness. Findings were compared between pediatric and adult patients. Results: 100 consecutive patients were enrolled (59 children and 41 adults). Hypertransaminasemia was identified in 30.5% of pediatric and 36.6% of adult patients. Liver steatosis was detected in 61% and 56% of children and adults, respectively. Other main causes of liver diseases were excluded in all cases. Severity of liver impairment significantly correlated with malnutrition status. Following nutritional rehabilitation, 86.7% of patients normalized liver enzyme levels, and improvement grade was significantly correlated with weight gain (r = 0.61, p < 0.001). Conclusions: Liver involvement is common in both pediatric and adult patients with feeding and eating disorders, with severity closely linked to nutritional status and improvement following nutritional rehabilitation. It remains important to exclude other causes of liver disease. Overall, our findings support the importance of routine liver function monitoring in patients with eating disorders and emphasize the need for timely multidisciplinary interventions that address both somatic and psychiatric aspects of care.
Joubert Syndrome (JS) is a rare and complex genetic ciliopathy, characterised by cerebellar malformation, resulting in hypotonia, ataxia, and profound neuropsychomotor delays, leading to challenges in gait acquisition. Evidence for effective, targeted locomotor interventions in this population is scarce. This study aimed to evaluate the effectiveness of a six-week structured locomotor training protocol on independent walking (≥10 steps) and participation. A single-case experimental design (A-B-A) was implemented. The four-year-old boy underwent 4-week intervention, with sessions administered four days per week — two conducted by the researcher and two by the family members. Outcomes included motor behavior by the Infant Motor Profile (IMP), administered three times at baseline, twice weekly during intervention, and three times post-intervention. Participation was assessed through the Young Children’s Participation and Environment Measure (YC-PEM), administered once at pre- and post-intervention. The child achieved the primary functional goal of independent walking for more than 10 consecutive steps. Parent-reported participation increased across home, school, and community settings, with a notable shift in parental support strategies. In contrast, the IMP changes were minimal. It is concluded that a focused, intensive, structured locomotor training protocol facilitated the gait acquisition and enhanced participation of a child with JS, supporting the role of task-specific, family-inclusive rehabilitation in individuals with this condition. Nevertheless, future research should explore strategies to integrate approaches addressing co-occurring behavioural challenges to optimise engagement and efficacy of neuromotor intervention programs.
Epilepsy is one of the most frequent chronic neurological diseases in childhood. Numerous differential diagnoses lead to a high risk of misinterpretation due to similar seizure semiology. Longer EEG recordings such as 24-hour video-EEG monitorings can enhance sensitivity and specificity to diagnose epilepsy. The goal of this study was to determine the diagnostic value of 24-hour video-EEG monitoring. Therefore, 105 children (8.5 4.7 years, 37 female) who underwent 24-hour video-EEG in the monitoring unit were included in this study. Epilepsy was newly diagnosed in 28 children (26.7%) and ruled out in 17 children (16.2%). The monitoring led to a change in epilepsy classification in 8 children (7.6%). Antiseizure medication was modified in 50 patients (47.6%). Children with pathological EEGs with IEDs were more likely to be diagnosed with epilepsy than those without IEDs (p=0.047). Further, epilepsy was more often ruled out in children without IEDs than in those with IEDs (p=0.037). No complications were registered during the monitoring. In conclusion, the use of 24h-video-EEG-monitoring can improve diagnostic accuracy in clinical practice and enhance long-term management in pediatric epilepsy while being non-invasive with absent complications when implemented in pediatric patients.
Background and Objective: To describe the intersection of tobacco smoke exposure with breastfeeding psychosocial predictors and practice. Methods: This is a secondary analysis of the Baby’s Breath study data among a free-living people from southeastern New England. Participants were 843 pregnant people who use (38%), recently quit (23%) or are exposed to (39%) tobacco smoke, who intended (77%) to breastfeed, and who were 55% married, 53% primiparous, 56% unemployed, 41% non-Hispanic White, 27% Hispanic, 13% non-Hispanic Black, and 28% <21, 39% 21-25 or 33%>25 years old. Main outcome measures were self-reported breastfeeding intentions and predictors at 16- and 32-weeks gestation, breastfeeding initiation and continuation at 3 and 6 months postpartum, and tobacco use and exposure at all timepoints. Chi-square and regression models assessed breastfeeding and smoking status and associations between psychosocial scores with breastfeeding intention and smoking status. Results: Breastfeeding variables differed by smoking exposure. Psychosocial scores were associated with breastfeeding intention. Knowledge, self-efficacy, and social support scores were associated with tobacco smoke exposure during pregnancy. Conclusions: Breastfeeding intention, practice, and associated knowledge, self-efficacy, and social support are associated with tobacco use and exposure. Tobacco smoke avoidance messaging and breastfeeding support addressing common antecedents will likely lead to less smoke-exposed, more successfully breastfed babies with better health outcomes.
Background; Alström syndrome (AS) is characterized by core clinical features, including cone-rod dystrophy, early-onset obesity, progressive bilateral sensorineural hearing loss, type 2 diabetes mellitus, and cardiomyopathy. Age-specific diagnostic criteria have been proposed. Early diagnosis is critical due to the variable and progressive nature of clinical manifestations. The limited number of reported cases hinders a comprehensive understanding of the natural history of the disease. Methods; We present three pediatric cases of AS, highlighting the syndrome’s clinical variability and discussing the challenges of early diagnosis in the pediatric age. Results; Case 1 involves a 4-year-old girl who presented with nystagmus, poor vision, photophobia, and sensorineural hearing loss starting at 3 months of age, later developing type 2 diabetes and early-stage dilated cardiomyopathy. Cases 2 and 3 illustrate marked intrafamilial phenotypic variability, with one sibling experiencing fatal neonatal cardiomyopathy and the other presenting a milder clinical course. Conclusions; Our cases show that the clinical features of AS evolve over time, with ocular manifestations appearing in early infancy and others emerging later. Significant intrafamilial phenotypic variability underscores the need for individualized clinical management, even within the same family. Given the potential for rapid and fatal progression of cardiomyopathy in infancy, early cardiac screening is strongly recommended in patients with early-onset nystagmus and in all individuals diagnosed with AS.
MicroRNAs are short, highly conserved, non-coding ribonucleic acids that play an important role in the complex network of gene regulation, especially in gene silencing. MicroRNAs regulate gene expression highly specifically at the post-transcriptional level. MicroRNAs have a size of 21 to 23 nucleotides, but there can be even a few hundred. In recent years, knowledge about microRNAs has steadily grown. The miR Base database has shown an increase of over 4000 sequences within few years and, each miRNA has the potential to target a large number of genes. Why the database of new miRNAs is rising, is not completely understood to date. Working with miRNAs is at the forefront of biomedical research. Since their discovery in 1993, significant knowledge about miRNAs has been gathered: their biogenesis has been elucidated, the components involved in RNA interference have been identified, and insight into the therapeutic importance of miRNAs has been gained - both as drugs and as targets for new therapies. Further intensive research will help identify the key molecular players in this miRNA-mediated signaling pathway and understand their function. Strategies are being developed to influence the activity of these proteins, in order to draw conclusions from these experiments about their respective functions. This will certainly help develop new therapeutic approaches for the treatment of human diseases that can be attributed to RNA interference dysfunctions. The exact biological functions of most microRNAs are still unknown. According to computer-based predictions, approximately 20-30% of genes in the human genome could be regulated by microRNAs. It is assumed that several thousand different microRNAs are encoded. Micro-RNA`s play an important role in pathogenesis of many different pediatric diseases, which will be analyzed in this review in detail.
Introduction: Head trauma (HT) is a leading cause of morbidity and mortality in children worldwide. The primary aim of this study was to describe patients presenting to our first-level Emergency Department (ED) following a HT. The secondary aims were to compare both the epidemiology and the management of paediatric patients with literature data, analyzing the appropriateness of management of children’s traumatic brain injuries according to the current guidelines. Methods: We conducted a retrospective review of medical records of patients aged < 14 years who attended our first-level ED due to head trauma from July 1, 2021, and June 30, 2022. Clinical data, including age, gender, injury mechanism, location of trauma, time from traumatic event and ED arrival, symptoms at first evaluation, physical examination findings, radiological investigation results, medications administered in ED and prescribed at home, and outcome were collected and compared with data available in literature and current guidelines. Results: A total of 117 children aged < 14 years who attended our first-level ED due to head trauma from July 1, 2021, and June 30, 2022, were analyzed. Most of them were males aged 1-3 years. Frontal bone was the commonest side of trauma (43% of HT). Only eleven patients (9%) had a brain CT scan and 4 of them showed pathological findings. None had signs of bleeding. Four of the patients were transferred to a HUB hospital, provided with a paediatric neurosurgery and more important none of them has developed neurological sequelae or death. Discussion: Our 1-year observation of HT showed how this is a frequent indication for ED referral, especially in young children. In our hands less than 10% of cases required CT scan that reported pathological cases in 4 patients only (3%). We can conclude that the reduction of ionizing radiation exposition can be obtained with skilled experienced physicians.
Anorexia Nervosa (AN) is a multifactorial psychiatric disorder classified among eating and feeding disorders and frequently associated with psychiatric comorbidities, particularly among adolescents. The main objective of the study was evaluating the psychiatric comorbidities associated with AN, analyzing how these conditions influence each other, triggering challenges in clinical management. The study was conducted at the Child Neuropsychiatry Unit Clinic at Vanvitelli University and involved 60 AN inpatients. Retrospective data collection was obtained through analysis of several psychodiagnostic tests. The EAT-26 (Eating Attitude Test) was administered to assess the presence of dysfunctional eating behaviors, while the BUT (Body Uneasiness Test) was used to identify potential signs of body dysmorphic disorder. The SCARED (Screen for Child Anxiety Related Disorders) and CDI (Children’s Depression Inventory) were employed to investigate the presence of anxious and depressive symptoms. The WISC-IV (Wechsler Intelligence Scale for Children – Fourth Edition) was used to measure intellectual quotient and exclude the presence of intellectual disability. In addition, BMI at discharge of patients was evaluated as an outcome measure for treatment. Results highlight a significant relationship between AN and psychiatric comorbidities, providing important insights for a deeper understanding of the psychiatric dynamics associated with AN. Pearson correlation analysis revealed a strong positive correlation between the scores of the Eating Attitude Test (EAT-26) and the Body Uneasiness Test (BUT) (r=0.730; p<0.001), suggesting that subjects with dysfunctional eating behaviors tend to exhibit high dissatisfaction with their body image. A moderate correlation between the EAT and the SCARED (Screen for Child Anxiety Related Emotional Disorders) (r=0.505; p<0.001) indicates that eating disorders are associated with elevated anxiety levels, while the EAT showed a moderate correlation with the Children’s Depression Inventory (CDI) (r=0.411; p=0.001), suggesting a relationship between dysfunctional eating behaviors and depressive symptoms. Furthermore, the data show a significant increase in BMI during hospitalization, highlighting the importance of targeted therapeutic interventions. These findings contribute to enhancing diagnostic and therapeutic strategies in the management of patients with AN.
Background; Congenital malformations like oesophageal atresia (OA) and tracheo-esophageal fistula (TOF), congenital pulmonary airway malformations (CPAMs), congenital diaphragmatic hernia (CDH) and vascular rings (VRs) can influence lung development and respiratory function with significant impact on individuals, families, and health care system. This observational study outlines our multidisciplinary approach and respiratory follow-up for children with these congenital malformations. Methods; We collected clinical data of children followed at the Pediatric Respiratory Unit of Parma University Hospital (Italy) between January 2015 and May 2023. Results; Thirty-five patients have been included. The most common anomalies were AE (n = 12) and CHD (n = 9), followed by CPAMs (n = 9) and VRs (n = 5). In 50% of patients, the diagnosis was made through prenatal ultrasound, particularly in almost all patients with CPAMs (88.8%) and CDH (77.7%), contrary to OE, diagnosed postnatally in the majority of patients (83%). Children underwent their first respiratory visit at an average age of 2.5 years, follow-up was conducted on average every 6 months. More than half of patients (54%) was hospitalized for lower respiratory tract infections, particularly those with OA and those aged <3 years. Eight out of the 16 children capable of performing spirometry showed abnormalities in lung function. Conclusions; Children with congenital malformations are at risk of short and long-term respiratory complications. A personalized follow-up with close collaboration between pediatric pulmonologist, surgeon, neonatologist, physiotherapist is essential to optimize their management and improve their respiratory function.
Attention deficit/hyperactivity disorder (ADHD) and developmental coordination disorder (DCD) represent two frequent neurodevelopmental disorders, which may be comorbid or have common characteristics with each other. The aim of the present study was to explore the presence of DCD or motor planning difficulties in children with behavioral disorders and/or ADHD, as already stated in the literature. Motor abilities were assessed in a sample of children which underwent a comprehensive neuropsychological evaluation. A total of 43 children were included in the study and were subdivided in three groups: those with ADHD and DCD, those with DCD, and those with ADHD but also presenting motor-praxic difficulties. The first group obtained clinical scores at the considered tests, with worse performances in the balance area; in the second and third groups lower scores were observed in the manual dexterity and balance, with more homogeneous profiles. Overall, 27.3% of ADHD subjects received a diagnosis of DCD as well, whereas 31.8% showed documented motor-praxic difficulties. Our results confirmed an increased prevalence of DCD or general motor difficulties in children with ADHD compared to the general population. Further research should investigate whether a poorer motor performance assessed by standardized tests could be either due to a comorbid neurodevelopmental condition or a direct consequence of the pivotal symptomatology of the disorder.
Aim: To evaluate how the life of a parent changes from a psychological, social and economic point of view and to investigate levels of anxiety and depression perceived from the moment of diagnosis of the child's Autism Spectrum Disorder (ASD). Methods: From March to December 2021 an observational, cross sectional multicentre study was conducted. Results: A total of 372 parents were recruited in this survey. From data collected, most of parents reported high depression than anxiety levels. Parents interviewed declared that in most of the life spheres, such as: social, working, family, the presence of their sons with ADS have importantly influenced their lives. No significant associations were recorded between the autistic child habits or behaviors and the presence of anxiety among participants. On the other hand, motor and vocalist which could create serious disturbance among neighborhood was significantly associated with depression condition (p=0.021). Conclusions: It has been shown that social, psychological and economic support from institutions and professionals is still very low.
The present study describes the neonatal orthoptic screening battery (NOSB), a comprehensive orthoptic screening, based on four decades of application, aimed at early identification of signs and symptoms of ocular pathology or functional disorders. The NOSB allows for verifying the integrity of ocular components and early detection of functional alterations in ocular movements that could lead to the development of amblyopia or strabismus. The NOSB is the result of 45 years of screening activity in a primary health center assured by the National Health System in the city of Ragusa – Italy. It aims to examine and assess the neonate within the first 3 days of extrauterine life to identify visual system issues as early as possible. The NOSB may be conducted by Orthoptists, healthcare professionals specializing in neonatal and pediatric visual prevention. The Neonatal Orthoptic Screening battery (NOSB) here reported is proposed as a standard suitable for widespread adoption to be considered a "Best Practice".
This case report discusses a 13-year-old child presenting with bilateral middle-basal pneumonia attributed to Mycoplasma pneumoniae infection. Despite the absence of hemolysis, the patient exhibited symptoms consistent with cold agglutinin syndrome (CAS), including an erythematous-pomfoid urticaria-like rash. Laboratory analyses confirmed CAS with elevated cold agglutinin titers and a recent Mycoplasma pneumoniae infection. Treatment with clarithromycin resolved the pneumonia, and the rash spontaneously regressed. Additionally, hepatic steatosis was detected, likely associated with the patient's overweight status. This case highlights the importance of considering CAS in children with atypical symptoms following Mycoplasma pneumoniae infection.
Multisystem Inflammatory Syndrome in Children (MIS-C) treatment is still under debate and involves Intravenous Immunoglobulins (IVIG) and/or steroids. We retrospectively analysed data from the patients admitted to Our Institution during the year 2020 to investigate whether prompt IVIG treatment conditions cardiac dysfunction and need for support and if addition of steroids in different doses correlates with outcomes. Days of fever, time between fever appearance and IVIG treatment, left ventricular ejection fraction (LVEF%) at admission and Cardiac Function Recovery Time (time between worst LVEF and resume of LVEF >55%) were used as outcomes. 38 patients were admitted with MIS-C. All except one received IVIG; 24 received also different Methylprednisolone dosages. Time to IVIG treatment, adjusted for age and sex, correlated with global duration of fever (Coefficient: 1.2; 95% CI:0.73-1.68) and with Vasoactive Inotropic Score (VIS) (Coefficient: 0.09; 95% CI 0.02-0.15), with pericardial effusion (Coefficient: 2.37; 95% CI: 0.45-4.2). Global duration of fever was associated with time to IVIG (Coefficient: 0.8; 95% CI :0.49-1.13) and positive Covid-19 swab (Coefficient: 1.71; 95% CI 0.21-3.22). Cardiac Function Recovery Time did not show differences with different steroid dose regimens. High-dose steroids did not show any benefit in our cohort.
The management of pediatric drooling presents challenges requiring tailored therapeutic approaches. This scoping review examines the efficacy and safety of glycopyrronium in addressing drooling across diverse pediatric populations. Glycopyrronium, an anticholinergic medication, inhibits salivary gland activity, offering promise in managing drooling. Clinical trials and observational studies consistently demonstrate its effectiveness, particularly in children with neurological disabilities like cerebral palsy. Notably, glycopyrronium exhibits efficacy even at lower dosages, emphasizing personalized treatment. However, potential side effects such as dry mouth and vision changes necessitate careful monitoring. Future research should explore predictors of treatment response and include diverse patient populations to optimize management strategies. Overall, glycopyrronium emerges as a valuable therapeutic option for pediatric drooling, improving quality of life for affected children. This review underscores the importance of tailored approaches and highlights the need for further research to enhance outcomes in pediatric drooling management.
Hearing loss is among the utmost common disorders in children and a late diagnosis can impact language and cognitive development. With the aim of implementing an early hearing detection program (EHDP), the Emilia Romagna region has officially approved, since 2012, a NHS program distinguishing well babies and NICU children. Aim of this study is to evaluate the results of the application of these regional guidelines through data flow from the Child and Adolescent Mental Health Services (CAMHS). Data of children born between 2012 and 2018 and admitted to the service in the same period were collected, 84 children (56 males,28 females) were enrolled; 65% of the children were taken in charge by CAMHS within the first year of life. Concerning the NHS results, 77 (91%) children resulted fail at the screening test (6 unilateral fails), while the result was not available in one case; 6 children resulted pass. Most cases, 79 (94%), presented bilateral hearing loss. In particular, 14 (17.8%) children had a profound hearing loss, 10 (12.6%) a severe hearing loss, 10 (12.6%) a mild hearing loss (6 were conductive), 22 (27.8%) a moderate hearing loss, and 23 (29.2%) a moderate/severe hearing loss. Finally, 5 resulted affected by unilateral hearing loss (2 profound hearing loss, 3 severe). This study confirmed that regional recommendations about early diagnosis of hearing loss have been applied and most children accessed the CAMHS timely. To this aim synergism between hospital and territorial services, determining the implementation of the organization system was the keystone.
Introduction: to investigate the palatal and craniofacial relationship in Class III growing patients between successful and failed treated groups. Methods: Thirty-one patients treated with RME/FM/BB were enrolled (inclusion criteria: Caucasian ancestry, III Class malocclusion, maturation stage CS1-CS2, mixed dentition). Digital cast and cephalometric analysis were performed on pre-treatment and post-treatment records. Statistical analysis and a discriminant analysis was performed. GMM was used on digital dental casts with Procrustes analysis to assess the covariation between palatal and craniofacial morphology. Two groups (relapse, R, 19 and success S, 12) were identified. Results: R group showed a greater maxillary-anterior transversal width at T0. At T1 R showed a shorter maxillary-anterior length than S. A larger maxillary-anterior and posterior-transversal widths was found in both groups. S had greater maxillary-anterior and posterior-sagittal length. A larger mandibular-anterior and posterior-transversal widths was shown in R, while S showed no differences in mandibula. Maxillary-anterior and maxillary-posterior length were two predictive variables found by discriminant analysis. The PC1 showed significant changes in the palatal morphology and revealed differences for the craniofacial vertical components. Palatal and craniofacial shapes showed a significant covariation, linking the palatal width to skeletal divergence. Discussion: In Class III malocclusion increases in vertical divergence are correlated with a higher palatal vault and narrower width. A wider and shorter maxillary morphology could be a relapse factor for Class III orthopedic treatment, while the lack of mandibular modification could be predisposing for treatment success.
Inherited platelet disorders, including platelet storage pool diseases (SPDs), manifest in various bleeding symptoms, with severity often categorized based on their effects on either the surface receptors or internal structures of platelets [1]. This rare condition, characterized by defects in platelet granules, exhibits broad phenotypic variability, ranging from mild bruising to severe hemorrhages. Diagnosis involves specialized analyses such as platelet aggregation and genetic studies, necessitating a multidisciplinary approach for management [2]. Our case report describes a child with recurrent epistaxis, initially diagnosed with immune thrombocytopenia. Subsequent presentations led to suspicion of von Willebrand disease, but further examinations revealed a platelet function disorder. Genetic testing confirmed mutations associated with SPD. Treatment options include desmopressin, antifibrinolytic agents, and platelet transfusions, tailored to individual needs. The discussion underscores the diverse manifestations of SPD, emphasizing the importance of thorough diagnostic assessments. Treatment strategies aim to alleviate bleeding symptoms and mitigate associated risks, with a strong focus on personalized care. Challenges in managing SPD include missed diagnoses and the influence of genetic variations on disease severity. Ultimately, early detection and individualized therapies are essential for effectively managing SPD, underscoring the ongoing need for research to enhance outcomes for affected individuals.
