European Journal of Pediatrics最新文献

Allan-Herndon-Dudley syndrome is a neurodevelopmental disorder characterized by motor and intellectual disabilities. Despite its rarity, there has been a rise in interest due to ongoing research and emerging therapy suggestions. In this multicenter, retrospective, cross-sectional study, the genetic characteristics and clinical data of twenty-one cases of genetically confirmed MCT8 deficiency were evaluated. The median age at the diagnosis was 2.4 (1.29; 5.9) years, which ranged from 0.5 to 14.0 years. The median follow-up period was 2.34 years, ranging from four months to 7.9 years. In 21 patients, 17 different variants were detected in the SLC16A2 gene. Eleven of these variants (c.1456delC, c.439G > T, c.949C > A, c.1392dupC, c.1612C > T, c.407dup, c.781del, c.589C > A, c.712G > A, c.311 T > A, c.1461del) have not been previously reported. In this study, with the exception of three cases with fT3/fT4 ratios of 4.95, 3.58, and 4.52, all cases exhibited fT3/fT4 ratios higher than five (9.9 (7.9; 12.0)).

Conclusion: MCT8 deficiency is a rare and devastating disorder characterized by central hypothyroidism and peripheral thyrotoxicosis. The fT3/fT4 ratio can be used as a useful diagnostic indicator of MCT8 deficiency in males with mental and motor retardation. There is a need to raise clinicians' awareness of this potentially treatable condition with the emergence of new and promising treatments.

What is known: • Allan-Herndon-Dudley syndrome, also known as MCT8 deficiency is a rare and devastating disorder characterized by central hypothyroidism and peripheral thyrotoxicosis.

What is new: • In this study, seventeen different variants were detected in the SLC16A2 gene, eleven of which (c.1456delC; c.439G>T; c.949C>A; c.1392dupC; c.1612C>T; c.407dup; c.781del; c.589C>A; c.712G>A; c.311T>A; c.1461del) have not been reported before. • The fT3/fT4 ratio can be used as a useful diagnostic indicator of MCT8 deficiency in males with mental and motor retardation.

There is a growing body of literature that recognizes the importance of shared decision-making (SDM) in the care for children with chronic conditions and/or disabilities. Although participation in SDM can be more or less active, the tuning between parents and professionals about the way they want to participate in SDM is often an implicit process, limiting parents' optimal involvement. Role definitions may support both partners in the process of SDM. We conducted a scoping review to investigate the available knowledge on the interpretation and variability of different roles of parents and professionals in SDM. In total, 43 articles were included and were subjected to data extraction and thematic coding. The findings show that roles are described in the literature by three themes: (1) active and passive involvement, (2) leadership in decision-making, and (3) six specific roles: informing, advocating, supporting, facilitating, coordinating, and interacting. Some, but not all, of these roles are described for parents as well as professionals.Conclusion: The literature provides a first definition of the various roles parents and professionals may take during SDM. However, the results do not inform how the described roles can be performed in clinical practice. Follow-up research is needed to develop and evaluate practical initiatives to achieve suitable roles for both parents and professionals. What is Known: • Parents often play a role in shared decision-making What is New: • Parents and professionals can play different and various roles in decision-making • Most described roles can be played by both parents and professionals.

Diaphragmatic atrophy (DA) and lung injury (LI) have been associated with mechanical ventilation (MV). We aimed to assess the ultrasonographic changes in diaphragmatic thickness and LI during MV and their prediction for extubation failure in preterm infants. In this prospective observational study, mechanically ventilated preterm infants, < 30 weeks gestation, within the first 24 h of life underwent a baseline, within 24 h of MV, and serial diaphragmatic and lung ultrasounds scans until their first extubation attempt. DA was defined as a decline in pre-extubation expiratory diaphragmatic thickness (DT_exp) by ≥ 10% compared to baseline. A total of 251 ultrasound scans were performed on 38 preterm infants with a mean gestational age of 26.6 ± 1.7 weeks. Of these, 18 infants (47%) had DA. Among infants with DA, a pattern of progressive decline in DT_exp was associated with a concomitant pattern of increase in the lung ultrasound score (LUS). Infants in the DA group experienced a significantly higher percentage of extubation failure [13 (72%) versus 5 (25%), p = 0.004] compared to the no-DA group. Pre-extubation LUS was significantly higher in the DA compared to the no-DA group (14.2 ± 6.0 versus 10.3 ± 5.2, p = 0.04). Logistic regression analysis controlling for gestational age, pre-extubation weight, and mean airway pressure at extubation showed that LUS [OR 1.27, 95% CI (1.04-1.56), p = 0.02] was an independent predictor of for extubation failure.

Conclusion: In this cohort of preterm infants, lung ultrasound score has proved to be a stronger predictor of successful extubation compared to diaphragmatic thickness.

What is known: • Ultrasonographic assessment of the diaphragm and lungs is a sensitive tool in diagnosis of ventilator induced diaphragmatic atrophy and lung injury in preterm infants. Accuracy of lung and diaphragmatic ultrasound in predicting extubation outcome in preterm infants is questionable.

What is new: • A pattern of progressive decline in diaphragmatic thickness was associated with a concomitant pattern of increase in the lung ultrasound score in mechanically ventilated preterm infants. Lung ultrasound score has proved to be a stronger predictor of successful extubation compared to diaphragmatic thickness.

Though usually self-limiting, viral respiratory infections can escalate to severe cases requiring admission to a pediatric intensive care unit (PICU). This study aims to examine the proportional incidence, affected age ranges, viral pathogens involved, associated severity measures, and the impact of the COVID-19 pandemic on their incidence and virus distribution. This retrospective cohort study conducted in a tertiary care center (2011-2021) reviewed all pediatric patients admitted to PICU with laboratory-confirmed viral respiratory infection. The study included 312 patients, comprising 5.5% of all PICU admissions; 45% were males; 52% had underlying conditions. The median age was 1.1 (IQR 0.3-2.8) years; 18% were born prematurely. The most common viruses were respiratory syncytial virus (35%), adenovirus (26%), influenza (10%), parainfluenza (11%), and human metapneumovirus (11%). All viruses displayed a seasonal pattern, except year-round occurrence in adenovirus. The seasonality pattern was disrupted by COVID-19 pandemic-related restrictions. Mechanical ventilation was required for 46% of patients; 27% required other non-invasive respiratory support. Thirty-day mortality was documented in 18 (5.8%) patients. Underlying conditions, particularly immunosuppression, neuromuscular diseases, and genetic/metabolic syndromes, were associated with increased mortality (p = 0.001, 0.006, and 0.001, respectively). Adenovirus was also linked to higher mortality (p = 0.04), hMPV to prolonged ventilation (p = 0.004) and prolonged PICU stay (p = 0.009), and SARS-CoV-2 to extended ventilation (p = 0.04). During COVID-19, patients were older (p = 0.001), RSV cases decreased (p = 0.006), ventilation duration increased (p = 0.03), and cardiologic complications rose (p = 0.02). No influenza A or B cases appeared post-pandemic.

Conclusion: Viral respiratory infections can lead to severe complications. Their high prevalence in infants and young children highlights the need to extend vaccination age ranges for vaccine-preventable viral infections, monitor uptake in at-risk children, and implement public health interventions in daycare settings.

What is known: • Viral respiratory infections in children are a significant cause of illness and mortality.

What is new: • Severe infections in children beyond current vaccine eligibility suggest the need to expand vaccination to broader age groups. • SARS-CoV-2 dominance during the COVID-19 pandemic altered disease characteristics of respiratory infections.

A number of randomized-controlled trials (RCTs) have been conducted comparing the efficacy of piracetam with placebo and other medications in children with breath-holding spells (BHS). However, no systematic review has yet collated all this evidence. All RCTs comparing the efficacy and/or safety of piracetam with placebo or other medications in children with BHS were included. The pooled estimates were compared for the number of participants with a favorable response, the change in monthly frequency of BHS, compliance, and adverse effects in both groups. The ROB 2.0 tool was used to assess the risk of bias, and the GRADE system was used to determine the certainty of the collated evidence. We included 5 RCTs (437 participants) in the review. Piracetam group had significantly more participants with favorable responses at 1, 2 and 3 months after randomization, as compared to placebo group (RR: 6.5 (95% CI-1.8-23.2), I2 = 75%, p = 0.004, RR: 4.7 (95% CI-3.3-6.7), I2 = 49%, p < 0.0001, RR: 5.4 (95% CI-3.4-8.5), I2 = 0%, p < 0.0001 respectively). Number of participants with complete response or total cessation of attacks was more in the piracetam group compared to placebo (RR: 5.7 (95% CI-1.4-23.2), I2 = 88%, p = 0.01). Change in the average number of BHS was significantly more in the piracetam group, as compared to the placebo group (mean difference-4.9 (95% CI-0.7-9.0), I2 = 99%, p = 0.02). Number of participants with treatment-emergent adverse effects were comparable in both piracetam and placebo groups (RR: 1.9 (95% CI-0.5-7.6), I² = 0%, p = 0.33). Conclusion: Oral piracetam is efficacious and safe in children with BHS, and its efficacy may further increase by co-administration of oral docosahexaenoic acid. What is known? • Breath-holding spells (BHS) are a common pediatric condition, affecting 0.1% to 4.6% of otherwise healthy children. • Several studies have investigated the efficacy of piracetam in reducing the frequency and severity of BHS, with mixed results. What is new? • Oral piracetam is efficacious and safe in children with BHS. • Its efficacy is further increased by co-administration of oral docosahexaenoic acid.

Infectious gastroenteritis is an important cause of morbidity and mortality, especially in nations with middle and low incomes. In a pediatric gastroenteritis patient, the aim was to determine the therapeutic impact of using the Gastrointestinal Panel in our clinical practice. A single-center retrospective study was designed to evaluate children who were admitted to the hospital for gastroenteritis and had a gastrointestinal panel between August 2021 and January 2024. 103 patients who had gastrointestinal (GI) panel results were included in the study. The GI Panel positivity rate among 103 patients was 55.3% (n = 57). Bacterial agents were positive in 25 patients (43.8%), viral agents were found in 11 patients (19.2%), and polymicrobial agents were found positive in 21 patients (36.8%). Escherichia coli (9.1%) was the most common bacterial pathogen, and viral pathogens most frequently included Rotavirus (11.6%) and Norovirus (11.6%). When the effect of the GI Panel test on treatment was determined, the treatment of 51 (49.5%) patients was changed according to GI Panel.

Conclusions: In our study, the treatment regimen of many patients was adjusted based on the GI panel results in patients presenting with gastroenteritis. GI panel had an important impact on the patients care and optimization according to the principles of antimicrobial treatment. GI panel tests had several advantages such as speed and diagnostic accuracy as good as stool culture.

What is known: • Infectious gastroenteritis is a major cause of morbidity and mortality, especially in middle- and low-income countries. • BioFire® FilmArray, Gastrointestinal Panel (BioFire- Biomerieux, France) is a rapid and simple technique that uses nested multiplex PCR to detect gastrointestinal pathogens rapidly.

What is new:   • In this study, the GI Panel test was found to have a cumulative impact on 49.5% (n=51) of the clinician's treatment modalities. • With its speed and diagnostic sensitivity, the GI Panel may provide clinicians with an important tool in the fight against antibiotic resistance by decreasing antimicrobial drug treatment at the children with gastroenteritis.

Purpose: The availability of care recommendations has improved survival and delayed the progression of clinical signs in Duchenne muscular dystrophy. The aim of the study was to perform a nationwide survey investigating the prevalence, age distribution, and functional status of Duchenne muscular dystrophyin Italy.

Methods: The survey was performed by collecting data from all 31 reference centers for Duchenne muscular dystrophy in Italy using a structured form. We assessed age distribution, motor function, and the need for respiratory and nutritional support to evaluate their prevalence in different age and functional subgroups.

Results: The estimated prevalence was 1.65/100,000 (3.4/100,000 males). There were 972 boys and adults with a confirmed diagnosis of Duchenne, of age ranging between 6 months and 48 years (mean = 16.5). Over 59% were below the age of 18 years and the remaining 41% were adults. Over 43% were ambulant and 57% non-ambulant; 14.7% were steroids naive (mean 20.6 years), 75% are currently on steroids (mean 14.6 years) with 604 on the daily regime, 126 intermittent. Nearly 73% did not require any ventilatory support, 16% had NIV ≤ 12 h, 9% > 12 h, and 1.4% had a tracheostomy. More than 82% did not require any nutritional support, 13% required food modification/semisolid and 4.4% had a G-tube.

Conclusions: Our findings provide information to be used not only for epidemiological purposes but also for possible trial design to include older non-ambulant patients who until recently have been excluded and for whom clinical information is limited. What is Known • Duchenne muscular dystrophy is a progressive disorder associated with reduced survival. • As part of the disorder there is also a progressive loss of important milestones, including loss of ambulation, and increased need for respiratory and nutritional support. What is New • Our nationwide survey provides prevalence, age distribution, and functional status for Duchenne muscular dystrophyin Italy including both boys and adults. • Our findings can be used for epidemiological purposes and for possible trial design.

Erythrocyte transfusion is a time-consuming process for both health care personnel and patients. This research is aimed at assessing the safety of erythrocyte transfusion over a short period of time in pediatric patients using innovative echocardiographic parameters, such as tissue Doppler imaging and 2D speckle-tracking echocardiography. Twenty pediatric patients with chronic hemolytic anemia were included in the study. Patients with underlying cardiac, renal, or respiratory dysfunction and severe anemia (hemoglobin < 60 g/L) were excluded. The patients were grouped into small cohorts, and erythrocyte transfusion was initiated at 6 ml/kg/h. If tolerated, the rate was progressively increased by 1 ml/kg/h per cohort until reaching 12 ml/kg/h. Symptoms and signs of clinical intolerance and vital signs were evaluated during and following transfusions. Conventional echocardiography, tissue Doppler imaging, and 2D speckle-tracking echocardiography were performed before and after transfusion. No symptoms or signs of clinical intolerance were reported during or after transfusion. Following transfusion, the heart rate decreased significantly (P = 0.018). No significant changes in the systolic or diastolic functions of the right or left ventricles were observed after transfusion. Following transfusion, significant improvements in the ejection times of the left and right ventricles (P = 0.001 and P = 0.007, respectively) were noted. Similarly, the myocardial performance index significantly improved (P = 0.038 and P = 0.046, respectively). Conclusion: This exploratory study addresses the issue of whether erythrocyte transfusion may be administered at up to 12 ml/kg/h in selected stable pediatric patients with chronic anemia without the risk of developing transfusion-associated circulatory overload or affecting cardiac function. In addition to reducing tachycardia, erythrocyte transfusion improves biventricular ejection time and myocardial performance index (Tei-index).

Bacterial infections of the lower airways are the main cause of mortality and morbidity in cystic fibrosis. The most frequently isolated pathogens are S. aureus and P. aeruginosa; bacterial co-infections are frequently observed. The aim of this review is to provide, in the current context, the indications regarding the best antibiotic strategy to adopt in subjects affected by CF infected with the most common pathogens. We selected relevant publications (guidelines, systematic reviews and clinical studies published so far on these topics) and we analysed the sampling methods used and antibiotic strategies adopted. Oropharyngeal sampling methods are considered less sensitive for pathogen detection than sputum. In non-expectorating people, induced sputum is considered equivalent to two-lobe bronchoalveolar lavage, which is considered invasive. Antibiotic treatment against the main pathogens can consist in eradication treatment in the early stages of infection, chronic suppressive therapy and treatment of the pulmonary exacerbations. This scheme is valid for P. aeruginosa but remains to be demonstrated for the other pathogens. For S. aureus, no evidence-based therapeutic strategies on how to treat the different stages of bacterial infection have been established with certainty. With regard to the treatment of the other classic pathogens (B. cepacia complex, A. xylosoxidans and S. maltophilia), no evidence-based indications exist and decision is left to the clinician. The recent introduction of highly effective modulators on the CFTR protein, in addition to the favourable effects described in regulatory trials, has led to a reduction in bacterial isolations; the real effect of which in clinical practice has still to be assessed on the basis of scientific data. CONCLUSIONS: The reliability of culture examination depends on sampling methods, and expectorated sputum continues to be the best method as it is simple and non-invasive. P. aeruginosa is the pathogen for which antibiotic strategies for the various stages of infection appear best established, and the efficacy of early eradication treatment and chronic suppressive therapy have been underlined in clinical trials and systematic reviews. The recent introduction of modulators into clinical practice, despite their widely described efficacy, has not yet led to suggestions for changes in antibiotic strategies against the pathogens most frequently isolated.