Current opinion in pediatrics最新文献

Purpose of review: The integration of genomics into mainstream healthcare is transforming clinical genetics into a foundational component of modern medicine. This review explores the evolution of clinical genetics service delivery, highlighting evolving models of care designed to meet rising demand, improve access, and ensure equitable, patient-centered genomic care.

Recent findings: Key models of care discussed include multidisciplinary team approaches, embedded genetic counselors, advanced practice providers, upskilled non-genetics specialists, laboratory-based genetics clinicians, primary care providers of genetic healthcare and automated/patient-directed models. Educational needs, funding and adjuncts such as genetic assistants, collaborative telegenetics, and digital tools are also discussed for their role in supporting sustainable implementation.

Summary: We recommend health organizations develop a roadmap for genomic medicine through creation of a genomic medicine governance framework, assessment of workforce capacity, definition of patient cohorts, and reviewing their infrastructure readiness. No single model of care is suitable for every context. By clearly defining needs, acknowledging limitations, and identifying potential risks, organizations can select the most appropriate models to address both current and future requirements. As genomics becomes increasingly embedded in routine care, we believe a coordinated, evidence-based approach is essential to ensure well tolerated, effective, accessible, equitable, and sustainable delivery of genomic medicine across diverse healthcare settings.

Purpose of review: The increasing prevalence of neurodevelopmental disorders (NDDs) in adolescents and adults in recent decades is changing the paradigms of care provision across specialties, including pediatric and adult primary care and specialty services such as neurology. Transition into adulthood and transfer to adult care providers remains an underdeveloped area of care and research.

Recent findings: The transition process requires significant coordination of care between the family and multiple medical and nonmedical providers as well as community entities. This articulation occurs at times integrated into the continuity of care within certain specialty clinics (i.e. transition programs). There are often additional layers of complexity with NDDs where there are multiple comorbidities, that require synchronous care under transition clinics, addressing medical and psychosocial, educational, vocational, and financial issues (among others). The significant complexity is often compounded with individual and family resistance to change, emotional distress, and feelings of societal disconnect resulting in suboptimal care.

Summary: There are emerging models to address transition and transfer of care into adulthood for individuals with NDDs. However, given the challenges and potential points for disenfranchisement, additional research into uniform models that adapt to condition complexity, local and regional resources, are necessary.

Purpose of review: Fetal neurology is a distinct subspecialty within pediatric neurology, and a core element of neonatal neurocritical care. Increased fidelity and availability of fetal imaging and increasing yields of advanced genetic testing help the fetal neurologist provide an assessment of potential neurodevelopmental outcomes when a suspected or confirmed fetal brain malformation is present. The postnatal care of infants with a previously diagnosed brain abnormality may include pediatricians in a general primary care setting. It is imperative that pediatricians have a basic understanding of common fetal neurologic conditions and comorbidities to provide the best care to new families facing these challenges.

Recent findings: Growing literature of fetal brain abnormalities has allowed for increasing prenatal neurologic diagnoses. The recent recognition of neonatal neurocritical care as a distinct subspecialty seeks to optimize the management and care of this patient population.

Summary: This review provides a broad overview of the evolution of fetal neurology as a distinct field within neurology and neonatal neurocritical care. This article highlights nuances of fetal consultations and reviews some of the more common fetal neurologic diagnoses and comorbidities. Finally, it provides a call to action for collaborative management in pediatric care.

Purpose of review: This review highlights the importance of promptly recognizing and correctly naming status dystonicus as a neurologic emergency in the outpatient and inpatient settings, and aims to equip general pediatricians with practical guidance to trigger rapid escalation of care through the recently published status dystonicus pathways.

Recent findings: In 2024, Vogt et al. introduced two consensus algorithms - the acute dystonia pathway and the refractory status dystonicus pathway - aimed to unify diagnostic criteria, triage steps, and staged pharmacological and supportive interventions for status dystonicus across healthcare environments.

Summary: Effective application of these pathways empowers frontline clinicians to identify status dystonicus early, initiate first-line treatments without delay, and expedite transfer to specialized teams, thereby reducing the morbidity and mortality associated with this life-threatening movement disorder emergency.

Purpose of review: Perinatal infections and their potential consequences on child neurodevelopment have become a topic of greater interest over the past decade. The purpose of this review is to describe the current knowledge of neurodevelopmental impacts from some of these infections including congenital cytomegalovirus, Zika virus, Chikungunya, and severe acute respiratory syndrome coronavirus 2. These infections have had recent publications about neurodevelopmental impacts.

Recent findings: Children with congenital cytomegalovirus infection, especially those with symptomatic infection, are at a high risk for developmental delays. They also seem to be at an increased risk for autism spectrum disorder. Studies indicate that prenatal exposure to severe acute respiratory syndrome coronavirus 2 may also be a risk factor for developmental delay and that all children exposed prenatally should be followed more closely for early neurodevelopment. Children with congenital Zika syndrome and birth defects are at risk for a range of neurodevelopmental sequalae and at high risk for early mortality. However, normocephalic children with antenatal Zika virus exposure are also at risk for a range of neurodevelopmental effects including lower cognitive performance at school age.

Summary: Congenital and perinatal infectious exposures increase the risk for impaired child neurodevelopment. All children with perinatal infections should have close neurodevelopmental follow-up during childhood.

Purpose of review: Sex steroid hormones and the gut microbiome are increasingly recognized as bidirectionally interacting regulators of growth, metabolism, and endocrine maturation. While most research has focused on adults, accumulating evidence indicates that these interactions are established early in life and influence pubertal timing, metabolic homeostasis, and neuroendocrine development. This review synthesizes current human evidence on microbiome-sex steroid relationships across childhood and adolescence, highlighting mechanistic insights and clinical implications for pediatric endocrinology.

Recent findings: Gut microbes modulate steroid hormone metabolism through enzymatic deconjugation and enterohepatic circulation, while pubertal hormonal shifts reciprocally influence microbial diversity and function. Early-life dysbiosis linked to antibiotics, diet, or obesity may alter hypothalamic-pituitary-gonadal activity. Microbial metabolites such as short-chain fatty acids, bile acids, and tryptophan derivatives regulate immune, metabolic, and neuroendocrine pathways, affecting growth and insulin sensitivity. Disruptions of this microbiome-hormone axis are implicated in pubertal timing disorders, metabolic dysfunction, polycystic ovary syndrome (PCOS), and inflammatory intestinal diseases, whereas fiber-rich diets and probiotics may help restore balance.

Summary: The microbiome-sex steroid axis constitutes a fundamental component of pediatric endocrine development. Understanding this bidirectional relationship provides a framework for microbiome-informed strategies aimed at preventing and managing pubertal, metabolic, and neuroendocrine disorders during childhood and adolescence.

Purpose of review: Acute kidney injury (AKI) is a major contributor to morbidity and mortality in critically ill neonates. Before 2014, data were limited to small retrospective studies. In response, the 2013 NIH-sponsored workshop highlighted the need for collaborative, multidisciplinary research. The Assessment of Worldwide Acute Kidney Epidemiology in Neonates (AWAKEN) study was launched to fill this gap by defining AKI prevalence, risk factors, and outcomes, while also establishing infrastructure for future studies.

Recent findings: AWAKEN screened 4273 neonates admitted to 24 NICUs over a 3-month period in 2014. Strict criteria, including the requirement for ≥48 h of intravenous fluids, resulted in 2022 enrolled neonates. AKI was defined using a neonatal-modified KDIGO system.

Summary: AWAKEN confirmed AKI as an independent risk factor for mortality and prolonged hospitalization across all gestational ages. The creation of this high-quality, multicenter database has produced 21 peer-reviewed publications and significantly advanced the field of neonatal nephrology.

Purpose of review: Inguinal hernia repair remains one of the most common pediatric surgical procedures. Advances in minimally invasive techniques have made laparoscopic herniorrhaphy a safe alternative to open surgery. This review summarizes clinical outcomes in open and laparoscopic pediatric inguinal hernia repair, discusses technical considerations including anesthetic choice, and reviews patient and surgical factors relevant to surgical approach and timing.

Recent findings: Clinical outcomes appear similar in open and laparoscopic pediatric hernia repairs. Open surgery can be performed under regional or general anesthesia and permits direct visualization of the spermatic cord (in men) and high ligation of the hernia sac. The laparoscopic approach requires general anesthesia but permits same-setting visualization of the contralateral inguinal ring and repair of any contralateral hernia. Both techniques effectively manage recurrent hernias. Premature infants undergoing herniorrhaphy after neonatal ICU (NICU) discharge had fewer adverse events and shorter hospital stays than those undergoing surgery while in the NICU.

Summary: Both laparoscopic and open pediatric inguinal hernia repairs are generally well tolerated and effective. Surgeons should be skilled in both approaches and knowledgeable about patient characteristics, anesthetic considerations, and anatomic factors that may favor one approach over another.

Purpose of review: Against the WHO's report of 84% diphtheria-pertussis-tetanus (DPT) primary vaccination coverage globally, the resurgence of pertussis (whooping cough), contributing factors and measures to control it are described.

Recent findings: USA and China, with 94-97% primary DPT immunization uptake, reported a 6-fold and 65-fold increase in pertussis between two time periods in 2023 and 2024. The global post-COVID-19 pertussis epidemic is trending towards a shift from infants towards older persons. Macrolide resistance is prevalent in 98% of Bordetella pertussis strains in China and is now reported from other countries. Pertactin-deficient mutant acellular pertussis vaccine-evasive strains are now transmitted in older children and adults. Pertactin-producing B. pertussis is causing fulminant pertussis in newborns whose mothers were not immunized in pregnancy and in under-immunized infants. Circulating epidemic strains of B. pertussis were discordant to those contained in whole-cell (Bp137) pertussis vaccine. The pertussis resurgence maybe explained by increased case ascertainment and reporting, mutant B. pertussis strains with immune escape from acellular and whole cell vaccines, and/or macrolides, waning natural, or vaccine-induced immunity and COVID-19 pandemic factors.

Summary: Pertussis maybe curtailed with public education, active clinical and microbiological surveillance, appropriate antimicrobial treatment and prophylaxis, public health reporting, infection control and optimized immunizations to reduce attributable morbidity and mortality.

Purpose of review: Wilms tumor remains the most common renal malignancy in children. The treatment of Wilms tumor has evolved over the past decades improving overall survival while decreasing long-term, treatment-related sequelae. The purpose of this review is to provide a nuanced overview of Wilms tumor diagnosis, staging, and treatment with a particular emphasis on current advances in the field.

Recent findings: Differences and similarities exist between international treatment protocols set forth by the Children's Oncology Group (COG) and the International Society of Pediatric Urology (SIOP). Risk stratification is evolving with the use of molecular and histopathologic markers as outlined by the UMBRELLA protocol. The emphasis on survivorship care and long-term effects of treatment on patients with Wilms tumor remains a shared aim across groups.

Summary: Understanding the presentation, workup, management, and posttreatment effects of Wilms tumor is clinically relevant to all providers, as patients require multidisciplinary care beyond the initial oncologic setting.