International Journal of Pediatrics and Child Health

Editorial

M.A. Stefan Bittmann — Tue, 26 Aug 2025 00:00:00 +0000

Achondroplasia, the most common genetic cause of short stature, results from a gain-of-function mutation in the FGFR3 gene, impairing cartilage development and bone growth. It affects about 1 in 26,000–28,000 live births and is associated with limb shortening, spinal stenosis, and airway complications, though intelligence remains unaffected. Recent therapies, including C-type natriuretic peptide analogues (vosoritide, TransCon CNP) and FGFR3 inhibitors such as infigratinib, show promise in improving growth outcomes. However, these treatments are not curative and mainly reduce disease burden. Future approaches, including selective FGFR3 inhibitors and gene-editing technologies like CRISPR-Cas9, may offer potential curative strategies. This communication emphasizes the ongoing shift from symptom management to curative possibilities in pediatric achondroplasia care.

The Potential Role of Micro-RNA`s in Pediatric Disease Pathogenesis

Stefan Bittmann — Tue, 18 Mar 2025 00:00:00 +0000

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.

Early-Onset Alström Syndrome: Clinical Clues from a Pediatric Case Series

Fri, 16 May 2025 00:00:00 +0000

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.

Tobacco Smoke Use and Exposure Are Linked with Breastfeeding Psychosocial Factors and Behaviors

Tue, 20 May 2025 00:00:00 +0000

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.

Myocarditis Associated with Human Parvovirus B-19 Infection in Children: A Case Series of Three Patients During the 2024 European Epidemic and a Brief Literature Review

Sat, 27 Sep 2025 00:00:00 +0000

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.

Liver Involvement in Pediatric and Adult Patients with Anorexia Nervosa

Wed, 08 Oct 2025 00:00:00 +0000

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.

The Diagnostic Value of 24-Hour Video-Eeg Monitoring in Pediatric Epilepsy

Mon, 10 Nov 2025 00:00:00 +0000

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.

Locomotor Training Protocol for a Joubert Syndrome Child: A Single Case Study

Caroline Teles, Luiza Ribeiro Machado — Sat, 13 Dec 2025 00:00:00 +0000

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.

Perinatal Outcomes at High Altitude: Analysis of Birth Weight, Low Birth Weight, and Small for Gestational Age in Relation to Maternal Factors. Catamarca, Northwestern Argentina

Pacheco Agüero, Rosario Elizabeth, Lomaglio, Delia Beatriz — Mon, 29 Dec 2025 00:00:00 +0000

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.