Italian Journal of Pediatrics最新文献

Background: Long-chain fatty acid oxidation disorders (LC-FAOD) are rare and potentially life-threatening diseases that cause deficient energy production and accumulation of toxic metabolites. Despite dietary management, adherence to maximum fasting guidelines, restricted long-chain triglyceride intake and supplementation with medium-chain triglyceride (MCT) oil (current standard of care), most patients experience recurrent decompensation episodes that can require hospitalisation. Herein, we analysed the effectiveness and safety of triheptanoin (a highly purified, synthetic medium odd-chain triglyceride) treatment in a cohort of Italian patients with LC-FAOD.

Methods: This retrospective, nationwide study included nine patients with LC-FAOD who switched from standard therapy with MCT oil to triheptanoin oral liquid. Data were collected between 2018 and 2022. Clinical outcome measures were the number and duration of intercurrent catabolic episodes and number and duration of metabolic decompensation episodes requiring hospitalisation. Creatine kinase (CK) levels and treatment-related adverse effects were also reported.

Results: Patients were provided a mean ± standard deviation (SD) triheptanoin dose of 1.5 ± 0.9 g/kg/day in four divided administrations, which accounted for 23.9 ± 8.9% of patients' total daily caloric intake. Triheptanoin treatment was started between 2.7 and 16 years of age and was continued for 2.2 ± 0.9 years. The number of intercurrent catabolic episodes during triheptanoin treatment was significantly lower than during MCT therapy (4.3 ± 5.3 vs 22.0 ± 22.2; p = 0.034), as were the number of metabolic decompensations requiring hospitalisation (mean ± SD: 2.0 ± 2.5 vs 18.3 ± 17.7; p = 0.014), and annualised hospitalisation rates and duration. Mean CK levels (outside metabolic decompensation episodes) were lower with triheptanoin treatment versus MCT oil for seven patients. No intensive care unit admissions were required during triheptanoin treatment. Epigastric pain and diarrhoea were recorded as adverse effects during both MCT and triheptanoin treatment.

Conclusions: The significant improvement in clinical outcome measures after the administration of triheptanoin highlights that this treatment approach can be more effective than MCT supplementation in patients with LC-FAOD. Triheptanoin was well tolerated and decreased the number of intercurrent catabolic episodes, metabolic decompensation episodes requiring hospitalisation, and the annualised rate and duration of hospitalisations.

Background: The neonatal outcomes across different percentiles of birth weight for gestational age are still unclear.

Methods: This retrospective cohort study was conducted within 57 tertiary hospitals participating in the Chinese Neonatal Network (CHNN) from 25 provinces throughout China. Infants with gestational age (GA) 24⁺⁰-31⁺⁶ weeks who were admitted within 7 days after birth were included. The composite outcome was defined as mortality or any one of neonatal major morbidities, including necrotizing enterocolitis (NEC), bronchopulmonary dysplasia (BPD), severe intraventricular hemorrhage (IVH), cystic periventricular leukomalacia (cPVL), severe retinopathy of prematurity (ROP), and sepsis. Multivariable logistic regressions using generalized estimating equation approach were conducted.

Results: A total of 8380 infants were included with a mean GA of 30 (28-31) weeks. Of these, 1373 (16.5%) were born at less than 28 weeks, while 6997 (83.5%) had a GA between 28 and 32 weeks. Our analysis indicated that the risk of composite outcomes was negatively associated with birth weight for gestational age, and compared to the reference group, the multiple-adjusted ORs (95%CI) of composite outcomes were 4.89 (3.51-6.81) and 2.16 (1.77-2.63) for infants with birth weight for gestational less than 10th percentile and 10th -30th percentile, respectively. The ORs (95%CI) of mortality, NEC, BPD, severe ROP, and sepsis in infants with birth weight for gestational age at 10th-30th percentile were 1.94 (1.56-2.41), 1.08 (0.79-1.47), 2.48 (2.03-3.04), 2.35 (1.63-3.39), and 1.39 (1.10-1.77), respectively.

Conclusion: Our study suggested that the risk of adverse neonatal outcomes increased significantly when the birth weight for gestational age was below the 30th percentile. Regular monitoring and early intervention are crucial for these high-risk infants.

Background: Antiretroviral treatment failure is a global issue, particularly in developing countries such as Sub-Saharan Africa. Prior research findings were highly variable and inconsistent across areas. As a result, the goal of this systematic review and meta-analysis was to determine the pooled prevalence of treatment failure among children receiving antiretroviral medication in Sub-Saharan Africa.

Methods: To find qualifying papers, we searched databases (such as PubMed, Google Scholar, African Journals Online, Scopus, and the Cochrane Library). The data were retrieved using Microsoft Excel and exported to STATA Version 14 for analysis. To check for publication bias, we employed Egger and Begg's regression tests. A random-effects model was used to assess the pooled prevalence of treatment failure due to high levels of variability.

Results: Following the removal of duplicated articles and quality screening, a total of 33 primary articles were determined to be appropriate for inclusion in the final analysis for this study. Overall, the pooled prevalence of treatment failure among HIV-infected children was 25.86% (95% CI: 21.46, 30.26). There is great variety across the included studies, with the majority of them being conducted in Ethiopia. Cameroon had the greatest pooled prevalence of treatment failure among HIV-infected children, at 39.41% (95% CI: 21.54, 57.28), while Ethiopia had the lowest, at 13.77% (95% CI: 10.08, 17.47).

Conclusions: The pooled estimate prevalence of treatment failure among HIV-infected children in Sub-Saharan Africa was high. The implementation of national and international policies and strategies on ART clinic care services should be given special focus in order to reduce treatment failure in children living with HIV/AIDS.

Trial registration: The protocol has been registered in the PROSPERO database under the registration number CRD-429011.

Human Milk is the best option for infant feeding; and for this reason, it should be promoted, protected, and supported. HM is an individual-specific-dynamic biofluid, characterized by an extreme variability in its composition. A wealth of literature has investigated how HM is related to healthy development. An association between HM composition, including nutrients and growth-related hormones as well as other bioactive components, and short-term and long-term infant outcomes could support this statement; however, the evidence is limited. In fact, HM composition is difficult to examine as it is dynamic and changes within a single feed, diurnally, according to stage of lactation and between and within populations. The aim of this review is summarizing only the innovative knowledge on the association between HM composition and long-term outcomes: infant growth and neurodevelopment. In this specific contest, macronutrients and historical biological component with well recognized effect were excluded (i.e. LCPUFA, DHA, iodine). Revised articles have been found in MEDLINE using breast milk-related outcomes, neurodevelopment, infant growth, breast milk-related biological factors, biomarkers, biological active components, and constituents as keywords. Moreover, we focus our search on the latest research results.

Background: Motor competence (MC) is a key component reflecting one's ability to execute motor tasks and is an important predictor of physical fitness. For adolescents, understanding the factors affecting MC is pertinent to their development of more sophisticated sporting skills. Previous studies considered the influence of poor proprioceptive ability on MC, however, the relationship between lower limb joint position sense, kinematic control, and MC is not well understood. Therefore, the aim of this study was to determine the relation between joint position sense and kinematic control with MC in adolescents during a lower limb movement reproduction task.

Methods: This study was a cross-sectional design. Young people (n = 427, 196 girls and 231 boys) aged 13 to 14 years were recruited. A movement reproduction task was used to assess joint position sense and kinematic control, while the Movement Assessment Battery for Children (mABC-2) was used to assess MC. In this study, participants were categorized into the Typically Developed (TD, n = 231) and Probable Developmental Coordination Disorder (DCD, n = 80) groups for further analysis of joint position sense, kinematic control, and MC between groups.

Results: Kinematic data, specifically normalized jerk, showed a significant correlation with MC. There was no correlation between knee joint position sense and MC, and no group differences between DCD and TD were found.

Conclusions: Joint position sense should not be used as a measure to distinguish TD and DCD. Rather than joint position sense, control of kinematic movement has a greater influence on the coordination of the lower limbs in adolescents. Movement control training should be implemented in the clinical setting to target kinematic control, rather than focus on joint position sense practice, to improve motor competency.

Trial registration identifier: NCT03150784. Registered 12 May 2017, https://clinicaltrials.gov/study/NCT03150784 .

Background: The Coiled-Coil Domain-Containing Protein 88 A (CCDC88A) gene encodes the actin-binding protein Girdin, which plays important roles in maintaining the actin cytoskeleton and in cell migration and was recently associated with a specific form of epileptic encephalopathy. Biallelic protein-truncating variants of CCDC88A have been considered responsible for progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO)-like syndrome. To date, only three consanguineous families with loss-of-function homozygous variants in the CCDC88A gene have been reported. The described patients share many clinical features, such as microcephaly, neonatal hypotonia, seizures, profound developmental delay, face and limb edema, and dysmorphic features, with a similar appearance of the eyes, nose, mouth, and fingers.

Case presentation: We report on a child from a nonconsanguineous family who presented with profound global developmental delay, severe epilepsy, and brain malformations, including subcortical band heterotopia. The patient harbored two heterozygous pathogenic variants in the trans configuration in the CCDC88A gene, which affected the coiled-coil and C-terminal domains.

Conclusions: We detail the clinical and cerebral imaging data of our patient in the context of previously reported patients with disease-causing variants in the CCDC88A gene, emphasizing the common phenotypes, including cortical malformations, that warrant screening for sequence variants in this gene.

Background: Multisystem Inflammatory Syndrome in Children (MIS-C) is a rare complication, which develops within 3-6 weeks after SARS-CoV2 infection. The coronavirus disease 2019 (COVID-19) vaccine was firstly introduced in adults and adolescents and later in patients aged 5-11 years old. Although a reduced incidence of MIS-C and with less severe symptoms has been reported in vaccinated adolescents, there is little knowledge in children younger than 12 years of age. In addition, it is not understood whether MIS-C in vaccinated patients can be triggered by Covid19 vaccination or be secondary to a recent asymptomatic Sars-Cov2 infection.

Case presentation: We describe the case of a Caucasian 6-year-old girl, one month after double COVID-19 vaccination, who presented fever, acute abdominal pain, rash, pharyngotonsillitis, cheilitis, cervical lymphadenopathy without a prior detected Sars-Cov2 infection. She also had lymphopenia, increase in inflammatory markers, cardiac and pulmonary involvement. Therefore, we dosed both anti Sars-Cov2 Spike and Nucleocapsid antibodies, which were positive and allowed us to confirm the diagnosis of MIS-C. We promptly administered intravenous immunoglobulins and methylprednisone, resulting in the initial regression of fever. During the hospitalization, the child also developed pancreatitis and severe neurological involvement, including irritability, drowsiness, distal tremor, dyskinesia and buccal asymmetry with complete resolution after 2 months. After 3 months from the onset of the symptoms, she reported a transient loss of hair compatible with telogen effluvium. After 12 months of follow-up, she did not show any symptomatic sequelae.

Conclusions: This case raises the question of whether COVID-19 vaccination may be involved in the pathogenesis of MIS-C in children between the ages of 5 and 11 years old.

Background: Silver-Russell Syndrome (SRS, MIM #180860) is a clinically and genetically heterogeneous disorder characterized by intrauterine and postnatal growth retardation; SRS is also accompanied by dysmorphic features such as triangular facial appearance, broad forehead, body asymmetry and significant feeding difficulties. The incidence is unknown but estimated at 1:30,000-100,000 live births. The diagnosis of SRS is guided by specific criteria described in the Netchine-Harbison clinical scoring system (NH-CSS).

Case presentation: Hereby we describe four patients with syndromic short stature in whom, despite fitting the criteria for SRS genetic analysis (and one on them even meeting the clinical criteria for SRS), molecular analysis actually diagnosed a different syndrome. Some additional features such as hypotonia, microcephaly, developmental delay and/or intellectual disability, and family history of growth failure, were actually discordant with SRS in our cohort.

Conclusions: The clinical resemblance of other short stature syndromes with SRS poses a risk of diagnostic failure, in particular when clinical SRS only criteria are met, allowing SRS diagnosis in the absence of a positive result of a genetic test. The presence of additional features atypical for SRS diagnosis becomes a red flag for a more extensive and thorough analysis. The signs relevant to the differential diagnosis should be valued as much as possible since a correct diagnosis of these patients is the only way to provide the appropriate care pathway, a thorough genetic counselling, prognosis definition, follow up setting, appropriate monitoring and care of possible medical problems.

Background: Chest physiotherapy for airway clearance is not recommended in children hospitalized with bronchiolitis. The updated Cochrane meta-analysis suggests that slow expiratory techniques could slightly improve clinical severity, but the evidence certainty is low and the clinical significance of this change is unknown. We investigated whether the prolonged slow expiration technique (PSET) would impact the 24-h food intake of these children.

Methods: We conducted a two-arm double-blind randomized controlled trial. Hospitalized children aged from 1 to 12 months, bottle-fed or diversified and referred for airway clearance were included. Both groups received upper airway clearance at inclusion and standard treatments. The experimental group received PSET including rhinopharyngeal unclogging and targeted unprovoked cough. The primary outcome was the 24-h food intake. Clinical severity, vomit episodes and sleep quality were also recorded. An ordinary least squares linear regression for quantitative variables was modelled for between-group comparisons.

Results: From January 9, 2019, to December 1, 2022, 42 children were randomized with a 1:1 ratio (mean age: 5.0 (± 2.9) months). The 24-h food intake did not differ between groups (estimate: 1.8% (95%CI -7.0 to 10.6); p = 0.68). PSET had no effect on SpO2, clinical severity, RR and HR at the follow-up assessments (5 min, 30 min and 24 h after intervention), nor on the number of vomit episodes, total sleep time and SpO2 during sleep.

Conclusions: PSET did not affect food intake or the 24-h course of bronchiolitis more than standard treatment in children hospitalized for moderate bronchiolitis.

Trial registration: NCT03738501  registered on 13/11/2018, Slow Expiratory Technique to Improve Alimentation in Children With Bronchiolitis (BRONCHIOL-EAT); https://classic.

Clinicaltrials: gov/ct2/show/NCT03738501.

Background: Docosahexaenoic acid (DHA) has been reported to be associated with the children's neurodevelopment, who may be exposed to tobacco smoke simultaneously. The evidence about joint effect of DHA intake and tobacco smoke exposure on children and adolescents' learning disabilities (LD) was limited. The objective of this study was to assess the joint effect of DHA intake and tobacco smoke exposure on children and adolescents' LD.

Methods: A cross-sectional analysis of the NHANES 1999-2004 was performed. Children and adolescents aged 6-15 years old were included. The outcome was diagnosed by parental report of ever health professionals or school representative-identified LD. Dietary DHA intake data were obtained by food frequency questionnaire and tobacco smoke exposure levels were evaluated by serum cotinine levels. Weighted univariable and multivariate logistic regression analyses were conducted to determine the joint effect of DHA intake and tobacco smoke exposure on LD in children and adolescents, with odds ratios (ORs) and 95% confidence intervals (CIs). This joint association was further assessed after stratification by age, gender, body mass index, the history of attention deficit disorder and seen mental health professional.

Results: We identified 5,247 children and adolescents in present study, of whom 593 (11.30%) had LD. After adjusting covariates, we observed children and adolescents with DHA intake (OR = 0.76, 95%CI: 0.61-0.96) was related to lower incidence of LD; children who exposure to tobacco smoke was related to higher incidence of LD (OR = 1.54, 95%CI: 1.07-2.23); children and adolescents who exposure to tobacco smoke and without DHA intake were related to highest odds of LD (OR = 2.08, 95%CI: 1.37-3.17, P for trend = 0.042), that was, DHA and tobacco smoke exposure may have a joint effect on the odds of LD in children and adolescents. Subgroup analyses suggested this joint effect was robust especially among children and adolescents with normal & underweight BMI and without the history of attention deficit disorder and seen mental health professional.

Conclusion: Increasing the DHA intake and reducing tobacco smoke exposure may have a potential role in the prevention of LD in children and adolescents. This joint effect warrants further investigation by large-scale prospective study.