Each year, we observe the 21st day of March as our World Down Syndrome Day. The goal is to raise public awareness of Down syndrome (DS) and encourage all member states, relevant organizations of the UN system, all member states, other international organizations, non-governmental organizations, and the private sector to join this effort. The epidemiology of DS is complex. The incidence of DS is estimated to be somewhere between 1 in 1,000 and 1 in 1,200 live births worldwide, but there may well be some temporal, racial/ethnic, and geographical variability in the prevalence of DS. Most infants with DS have an extra copy of chromosome 21, which occurs due to the failure of chromosome 21 to separate during gametogenesis. However, a minority with the same phenotype may have a Robertsonian translocation, an isochromosome, or a ring chromosome. Increasing information suggests that many of the most frequently seen phenotypic features may be rooted in sequential variability in only one band, the 21q22. The characteristic facial appearance, cardiac anomalies such as the endocardial cushion defect, neurodevelopmental delay, and many dermatoglyphic changes could result from a small region including the genes for superoxide dismutase in the region 21q22.1, the amyloid precursor protein mapping in 21q11.2-21.05, and six probes for single-copy sequences: D21S46 in 21q11.2-21.05, D21S47 and SF57 in 21q22.1-22.3, and D21S39, D21S42, and D21S43 in 21q22.3. Speaking from this medical perspective, we need to understand the pathophysiology of DS to meet their healthcare needs. If we could do so, we could make a small change in this world.

Necrotizing enterocolitis (NEC) is a leading cause of morbidity and mortality in very-low-birth-weight (VLBW) infants all over the world. Even thought the incidence of NEC has decreased over the past decade, it continues to affect 5–7% of premature infants born ≤ 32–33 weeks. The disconcerting part is that the incidence of NEC has not changed despite continuous efforts to understand its etiopathogenesis. Because of limited information about the cause of this disease, our group has increasingly focused on developing a clinical care bundle to treat these patients. As we know, a bundle is a structured attempt to improve the care of patients with a specific nosological entity, to improve outcomes. The team adopts a small number of, usually 3–5 evidence-based, proven practices which when performed reliably and consistently, have been shown to improve patient outcomes. In this article, we have focused on the use of human milk, including mother's own, that from donors, and of oral colostrum; standardized feeding practices; prevention of intestinal dysbiosis with antibiotic stewardship and use of probiotics; avoiding certain medications, such as histamine receptor blockers; adequate management of anemia; and antenatal use of corticosteroids. In these efforts, we have combined information from our own peer-reviewed clinical and preclinical studies with an extensive review of the literature from the databases PubMed, EMBASE, and Scopus.

There is considerable variability in the duration of antibiotic in neonatal intensive care units (NICUs) all over the world and is highly dependent on gestational ages (GA). It is difficult to withhold antibiotics in critically ill preterm infants because the possibility of infection is difficult to exclude in these patients and the acuity of illness can progress rapidly with potentially disastrous consequences. Available data encouragingly suggest that the incidence of early onset sepsis (EOS) might be lower in EpicLatino units in Latin America compared with Canadian research network (CNN) in 2022 in <30 weeks, but late onset sepsis (LOS) is more frequent at different GA. However, there is an overall scarcity of detailed information from many countries. The annual reports from EpicLatino database do show a high degree of variability in outcomes and a need for cautious interpretation of these figures. However, we still need to establish clear standards for antibiotic use in premature infants; these drugs are essential for combating infections and saving lives but mis-/overuse can exacerbate the risk of late-onset infections, necrotizing enterocolitis (NEC), bacterial resistance, and increase the cost of care. In this study, we aimed to find information on the patterns of antibiotic use in infants born at ≤32 weeks’ gestation in the EpicLatino units during the period 2015–2022. A specifically designed questionnaire was sent to unit medical directors to determine whether the total antibiotic use per unit per 1,000 patient-days correlated with the incidence-rate ratios. This is a data-collecting/descriptive study that it will help us in designing further efforts and choosing the sites for intervention.

Background: Successful extubation of very-low-birth-weight (VLBW) infants supported with assisted ventilation is associated with lower rates of morbidity and a shorter hospital stay. In this article, we assessed the performance of an extubation readiness estimator (ERE) in VLBW infants. Methods: We conducted a retrospective chart review including 64 intubated infants who were born at a gestational age of ≤30 weeks with a birth weight of ≤1500 gm. Our primary outcome assessed the performance of the ERE for the prediction of successful extubation using the area under the receiveroperating curve (AUROC). Results: Fifty-three neonates were extubated successfully. Eleven of these infants had to be intubated again within 5 days of the first attempt. Forty infants had ERE scores <80%; 6 needed reintubation. Among 24 infants with ERE scores ≥80%, 5 required reintubation. The performance of the ERE tool in our population was poor (AUROC = 0.49; sensitivity 36%, and specificity 54%). Conclusion: In our pilot study, an ERE-based approach to extubation of ventilated VLBW infants was deemed safe but could not accurately predict the transition to noninvasive ventilation. We are continuing to use clinical judgment-based extubation for now. Further studies are needed with more refined scales in larger cohorts.

The development of artificial intelligence (AI) algorithms has evoked a mixed-feeling reaction, a combination of excitement but also some trepidation, with reminders of caution coming up each time a novel AI-related academic/medical software program is proposed. There is awareness, with some hesitancy, that these algorithms could turn out to be a continuous, transformational source of clinical and educational information. Several AI algorithms with varying strengths and weaknesses are known, but the deep-learning pathways known as the Generative Pre-trained Transformers (GPT) have evoked the most interest as clinical decision-support systems. Again, these tools still need validation and all steps should undergo multiple checks and cross-checks prior to any implementation in human medicine. If, however, testing eventually confirms the utility of these pathways, there is a possibility of a non-incremental advancement of immense value. Artificial intelligence can be helpful by facilitating appropriate analysis of the large bodies of data that are available but are not being uniformly and comprehensively analyzed at all centers. It could promote appropriate, timely diagnoses, testing for efficacy with less bias, fewer diagnostic and medication errors, and good follow-up. Predictive modeling can help in appropriate allocation of resources by identifying at-risk newborns right at the outset. Artificial intelligence can also help develop information packets to engage and educate families. In academics, it can help in an unbiased, all-inclusive analysis of medical literature on a continuous basis for education and research. We know that there will be challenges in protection of privacy in handling data, bias in algorithms, and in regulatory compliance. Continued efforts will be needed to understand and streamline AI. However, if the medical community hesitates today in overseeing this juggernaut, the inclusion (or not) of AI in medicine might not stop—it might just gradually get extrapolated into patient care from other organizations/industry for cost reasons, not justification based on actual clinical data. If we do not get involved in this process to oversee the development/incorporation of AI in newborn medicine, the questions in making decisions will just change from who, to which, when, and how. Maybe this will not be the most appropriate scenario. To conclude, AI has definite benefits; we should embrace AI developments as valuable tools that can assist physicians in analyzing large and complex datasets, which will facilitate the identification of key facts/findings that might be missed if studied by humans. On the other hand, a well-designed and critical expert review board is mandatory to prevent AI-generated systematic errors.

The incidence of symptomatic intracranial hemorrhage (ICH) in newborn infants may be up to 1:2,000 spontaneous births, 1:850 vacuum extractions, and 1:650 forceps-assisted deliveries. Intracranial hemorrhage is frequently associated with adverse neurodevelopmental outcomes in neonates as the perinatal period is a crucial window for brain development. In term neonates, ICH usually occurs during labor due to mechanical injury. On the other hand, preterm infants frequently develop ICH due to hemodynamic instability and fragility of the germinal matrix (GM) vasculature. Based on the location of the hemorrhage, ICH is usually described as epidural, subdural, subarachnoid, intraventricular, and parenchymal bleeds. The cause of neonatal ICH is multifactorial and includes hemorrhage related to prematurity, hemorrhagic stroke, infection, vascular malformations, bleeding disorders, and genetic causes. Iatrogenic coagulopathy during cardiopulmonary bypass/extracorporeal membrane oxygenation (ECMO) can also be a cause. Most patients can be managed without surgical intervention. Some symptomatic infants may need neurosurgical procedure(s) such as external ventricular drainage and/or ventriculoperitoneal shunt(s). The neurodevelopmental outcomes vary according to the maturation of the brain, etiology, place, and extent of the hemorrhage. Clinically concerning complications may include developmental delay, leukomalacia, convulsion, cerebral palsy, and other neurological disorders. In this article, we have reviewed the types, etiology, severity, and clinical outcomes of neonatal ICH.

Background: Perinatal asphyxia and resulting hypoxic-ischemic encephalopathy (HIE) remain a significant cause of neonatal morbidity and mortality. This review focuses on the utilization of bedside cranial ultrasound in HIE to guide appropriate therapy, monitor disease progress, provide prognostic information, and help identify relevant research areas. Methods: A comprehensive literature search was conducted to review recognized patterns of HIE seen on ultrasound. Further efforts were focused on understanding the clinical relevance of these changes in the management of such infants and the prediction of long-term neurodevelopmental outcomes. Results: We reviewed cranial sonographic changes in asphyxiated neonates. Dynamic changes are observed across various time frames; hyperechogenicity of the thalamus, basal ganglia, and the altered appearance of the posterior limb of the internal capsule (PLIC) are frequently seen in acute and subacute insults. Also, a resistive index of 0.55 or less in cerebral Doppler studies within the first 72 hours of life is associated with adverse short- and long-term outcomes and increased mortality. Conclusion: Bedside cranial ultrasound is a useful screening tool for the diagnosis and monitoring of neonates with HIE. However, further studies are needed to improve our understanding of sonographic findings as predictors of adverse neurodevelopmental outcomes and mortality in affected neonates.

The two neocortical cerebral hemispheres are connected by white matter tracts such as the corpus callosum (CC), and the anterior and the hippocampal commissures. Complete agenesis of the CC is seen in about 7 persons per 1,000; the incidence in patients with developmental delay can be as high as 3%. In addition, many patients show a paucity, not complete absence, of commissural axons due to altered development. Others may develop secondary destruction of the CC following infarction, hemorrhage, trauma, and in some metabolic diseases. One notable structural feature in these patients with agenesis or hypogenesis of the CC are the Probst bundles (PBs), which are longitudinal, rostrocaudally oriented coiled white matter fascicles running alongside the lateral ventricles into the tapetum. The presence or absence of these PBs can affect the clinical presentation and outcome of these patients. Many patients with agenesis of the CC manifest with seizures within the first weeks of life. Others present with developmental delay and a multitude of neurological manifestations. The etiopathogenesis of agenesis of the CC is unknown and is still being investigated. These commissural defects can also be seen as a part of several genetic associations such as Aicardi syndrome, Andermann syndrome, Mowat-Wilson syndrome, and XLAG (X-linked lissencephaly with ambiguous genitalia). As of now, no specific treatment is known for any of these conditions. Careful clinical and genetic evaluation of these patients is necessary for symptomatic management and for counseling the families. In this article, we present our clinical/imaging experience and have combined it with an extensive search of the databases PubMed, EMBASE, and Scopus. To avoid bias, keywords were identified from discussions in our group and from PubMed's Medical Subject Heading (MeSH) thesaurus.