Clinical and Experimental Pediatrics最新文献

Global developmental delay (GDD) and intellectual disability (ID) are relatively common neurodevelopmental disorders that significantly impact affected children, their families, and society. The etiology of GDD/ID is notably diverse, encompassing both genetic and acquired factors. Although the precise cause of most GDD/ID cases remains unclear, an estimated half of all cases can be attributed to genetic factors. Thus, a detailed medical history and comprehensive physical examination remain pivotal for guiding diagnostic investigations into the underlying causes of GDD/ID. Advancements in genetic testing have supplanted traditional methods such as karyotyping and fluorescence in situ hybridization with chromosomal micro arrays, which are now the primary genetic tests for children with idiopathic GDD/ID. Moreover, the evaluation of Fragile X and Rett syndrome should be an integral component of initial diagnostic assessments. In recent years, whole-exome sequencing and whole-genome sequ-encing have emerged as important diagnostic tools for evaluating children with GDD/ID and have substantially enhanced the diagnostic yield rates. Gene therapy has emerged as a promising avenue and is poised to become a cornerstone in addressing various genetic developmental and epilepsy disorders. Early intervention facilitated by a proficient multidisciplinary team can markedly enhance the prognosis and outcomes of GDD/ID, particularly when parents or caregivers are actively engaged in the interventional process. This review discusses risk factors and common underlying causes, explores recent evidence and recommendations for genetic evaluation, and offers management strategies for children with GDD/ID.

Background: Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by severe social communication deficits and stereotypical repetitive behaviors.

Purpose: This umbrella review assessed neonatal risk factors associated with ASD using meta-analyses and systematic reviews.

Methods: We conducted a systematic search of interna- tional databases including PubMed, Scopus, and Web of Science for studies published through April 2022 utilizing pertinent keywords. A random-effects model was used to calculate the odds ratio (OR) and 95% confidence interval (CI). Substantial heterogeneity was considered at values of I2≥50%. A quality assessment of the included studies was performed using the A MeaSurement Tool to Assess Systematic Reviews (AMSTAR2) checklist.

Results: A total of 207,221 children with ASD and 22,993,128 neurotypical children were included. Six meta- analyses were included in this umbrella review. The factors of congenital heart disease (OR, 1.35; 95% CI, 1.17-1.52), macrosomia (OR, 1.11; 95% CI, 1.05-1.18), low birth weight (OR, 1.63; 95% CI, 1.48-1.81), very low birth weight (OR, 2.25; 95% CI, 1.79-2.83), small for gestational age (OR, 1.17; 95% CI, 1.09-1.24), jaundice (OR, 1.74; 95% CI, 1.42- 2.12), male sex (OR, 1.47; 95% CI, 1.39-1.55) and 1-minute Apgar score <7 (OR, 1.40; 95% CI, 1.26-1.55) were graded as suggestive evidence (class III). Only 3 studies reported heterogeneity (I2<50%). Based on the AMSTAR2 analysis, the methodological quality was critically low in 3 meta- analyses, low in 2, and moderate in 1.

Conclusion: Based on these results, clinicians should consider the risk factors for ASD and screen children in clinics.

Background: Intravenous immunoglobulin (IVIG)-resistant Kawasaki disease is associated with coronary artery lesion development.

Purpose: This study aimed to explore the factors associated with IVIG-resistance and construct and validate an interpretable machine learning (ML) prediction model in clinical practice.

Methods: Between December 2014 and November 2022, 602 patients were screened and risk factors for IVIG-resistance investigated. Five ML models are used to establish an optimal prediction model. The SHapley Additive exPlanations (SHAP) method was used to interpret the ML model.

Results: Na+, hemoglobin (Hb), C-reactive protein (CRP), and globulin were independent risk factors for IVIG-resistance. A nonlinear relationship was identified between globulin level and IVIG-resistance. The XGBoost model exhibited excellent performance, with an area under the receiver operating characteristic curve of 0.821, accuracy of 0.748, sensitivity of 0.889, and specificity of 0.683 in the testing set. The XGBoost model was interpreted globally and locally using the SHAP method.

Conclusion: Na+, Hb, CRP, and globulin levels were independently associated with IVIG-resistance. Our findings demonstrate that ML models can reliably predict IVIG-resistance. Moreover, use of the SHAP method to interpret the established XGBoost model's findings would provide evidence of IVIG-resistance and guide the individualized treatment of Kawasaki disease.

Unexplained acute kidney injury (AKI) in children owing to diethylene glycol (DEG) contamination during drug production has gained attention in recent years. This qualitative study investigated the effects of DEG exposure on the incidence of unknown AKI in children. A systematic review following the PRISMA (Preferred Reporting Items for Systematic Review and Meta-Analysis) guidelines was proposed to search for studies using predefined search terms in the PubMed, EBSCO, and Web of Science data-bases without publication date restrictions. The inclusion criteria are observational study, case study, case report, and case series design; and having provided accurate data for DEG poisoning and AKI diagnosis in children. All authors performed the study screening, data extraction, and data synthesis processes. Consensus was reached by mutual agreement. The data synthesis was conducted according to the DEG and unexplained AKI in children by examining the statistical data using Microsoft Excel 2017 and storing the data using the cloud service of Universitas Islam Indonesia. Of the 115 included studies, 21 met the inclusion criteria, including 2 case-control studies, 1 cross-sectional study, 4 case studies, and 14 case reports. DEG-contaminated paracetamol caused unexplained AKI in children. Other drugs including cough expectorants, antihistamines, and sedatives were administered. Chemicals other than DEG, such as propylene glycol and ethylene glycol, also induce AKI owing to overprescription and unintentional exposure. A recent epidemic of unexplained AKI showed contaminated paracetamol as the poisoning agent regardless of formula.

Endocrine-disrupting chemicals (EDCs) are natural or synthetic chemicals that mimic, block, or interfere with the hormones in the body. The most common and well- studied EDCs are bisphenol A, phthalates, and persistent organic pollutants including polychlorinated biphenyls, polybrominated diphenyl ethers, per- and polyfluoroalkyl substances, other brominated flame retardants, organochlorine pesticides, dioxins, and furans. Starting in embryonic life, humans are constantly exposed to EDCs through air, diet, skin, and water. Fetuses and newborns undergo crucial developmental processes that allow adaptation to the environment throughout life. As developing organisms, they are extremely sensitive to low doses of EDCs. Many EDCs can cross the placental barrier and reach the developing fetal organs. In addition, newborns can be exposed to EDCs through breastfeeding or formula feeding. Pre- and postnatal exposure to EDCs may increase the risk of childhood diseases by disrupting the hormone-mediated processes critical for growth and development during gestation and infancy. This review discusses evidence of the relationship between pre- and postnatal exposure to several EDCs, childbirth, and neurodevelopmental outcomes. Available evidence suggests that pre- and postnatal exposure to certain EDCs causes fetal growth restriction, preterm birth, low birth weight, and neurodevelopmental problems through various mechanisms of action. Given the adverse effects of EDCs on child development, further studies are required to clarify the overall associations.

Background: The exclusive breastfeeding (EBF) rate in Indonesia is lower than expected. Among the key factors affecting breastfeeding practices, paternal support has been suggested.

Purpose: To explore the role of paternal support in EBF failure among 3-month-old infants.

Methods: This sequential mixed-methods study, part of an ongoing cohort study in West Java in early 2022, included 225 infants. The parents of 3-month-old infants were interviewed. Paternal support was assessed using a 15-point validated questionnaire for a total score of 15-60 points. Multivariate binary regression was used to determine adjusted odds ratios (aORs). The qualitative exploration was based on in-depth interviews (IDIs) and forum group discussions (FGDs) following the quantitative survey.

Results: Of the 225 infants, 52.2% were no longer EBF. High paternal support (greater than the mean score) of breastfeeding was determined in 52.9% of cases (mean± standard deviation, 38.7±6.7 for the overall population vs. 37.5±6.3 and 40.2±6.8 for infants who were and were not EBF at 3 months of age, respectively). Low paternal support was associated with an increased EBF failure rate (aOR, 2.84; 95% confidence interval [CI], 1.46-5.54). Other variables that remained as predictors in the final model were a low birth rate (aOR, 7.35; 95% CI, 1.73-31.20), negative maternal attitude (aOR, 3.31; 95% CI, 1.63-6.75), lower self-efficacy (aOR, 4.82; 95% CI, 2.43-9.57), and lower maternal education level (aOR, 2.87; 95% CI, 1.03- 8.03). The IDIs and FGD observed the importance of the father's support of the mother and EBF. The qualitative exploration revealed a lack of knowledge about EBF as a parental support barrier.

Conclusion: Paternal support is important for EBF. Paternal involvement in EBF planning encouraged themother to continue. Plans that include fathers in breastfeeding education may help increase paternal support.