Current opinion in pediatrics最新文献

Purpose of review: New-onset refractory status epileptics (NORSE) and a subset, febrile infection-related epilepsy syndrome (FIRES), are rare clinical presentations with rapid onset, cryptogenic etiology, unpredictable course, and long-standing neurologic sequalae. International consensus recommendations were published in 2022 to aid in diagnosis, treatment, and research of NORSE/FIRES. Subsequently, there have been advances in understanding both the pathophysiology and the efficacy of immunotherapies.

Recent findings: There is growing evidence of immune dysregulation in NORSE/FIRES. Cytokine/chemokine profiles may serve as biomarkers to guide diagnosis and management. The treatment landscape for NORSE/FIRES is evolving, with increasing use of second-line immunotherapies such as anakinra and tocilizumab. Intrathecal dexamethasone is an emerging treatment. Additionally, studies are investigating more targeted immunotherapies based on immunologic profiles. Despite treatment, outcomes remain poor, with high morbidity and mortality. Neurologic sequalae includes intractable epilepsy, functional impairment, mood disorders, and behavioral disturbances. Many patients report poor quality of life.

Summary: NORSE/FIRES is a severe neurologic entity. Research is underway to determine pathogenesis, develop biomarkers, and provide more targeted immunotherapies with hopes of improving patient outcomes.

Purpose of review: Asthma is among the most common conditions managed by pediatricians. This review summarizes recent advances in our immunologic understanding of asthma, focusing on cell types implicated in pathogenesis outside of the Th2 paradigm. Early-life respiratory viral infections are a key risk factor for the development of pediatric asthma. Literature detailing the epidemiologic and immunologic connection between early-life viral infections and asthma is also reviewed.

Recent findings: Asthma is an umbrella term used clinically, but the underlying immune mechanisms can be highly variable. These differing endotypes of asthma can be driven by distinct granulocyte, CD4 + T-cell, and innate-cell subsets, all with therapeutic implications. Early-life viral infection is a well described risk factor for asthma development. Understanding the differences in the immune system early in life, focused on the lung milieu, has shed light on the mechanisms connecting these two conditions.

Summary: Early-life respiratory viral infections and asthma have high prevalence in pediatrics, with the former raising the risk for the latter. Understanding the immunologic mechanisms is critical in understanding this connection. Further, our understanding of the drivers of asthma in pediatrics has expanded beyond the canonical pathways.

Purpose of review: This review highlights recent developments in the use of machine learning supported facial feature analysis in the context of genetic and syndromic conditions. The review focusses on 2D image-based tools. The 2D images are easily obtained using handheld devices such as mobile phones and are more relevant to general practice than 3D image based systems.

Recent findings: Different algorithms are used widely in pediatric clinics, medical genetics clinics, for gene variant analysis and in research. Integrated systems combining next-generation phenotyping with next-generation genotyping support a shortened diagnostic odyssey for patients.

Summary: Future integration of phenotyping using data available in electronic medical records with genotyping data will likely result in earlier identification of possible genetic conditions.

Purpose of review: We provide a comprehensive review of the evidence on the influence social determinants of health play in the most common causes of perinatal brain injury. This area remains under-investigated, and the evidence can be difficult to navigate.

Recent findings: There is strong emerging evidence on factors such as the influence of maternal education, and in particular a cognitively stimulating home environment, on the language development of preterm infants. The role of the home environment on children following hypoxic brain injury and congenital heart disease is less well studied.

Summary: The social determinants of the child's home environment have a significant additive effect on the perinatal risk of a child on later development, particularly their language development.

Purpose of review: The purpose of this review is to provide an update on monitoring, prevention, and treatment of infectious and noninfectious complications of phagocytic, humoral, and cellular immune deficiencies.

Recent findings: The recognition that immune dysregulatory features are hallmarks of many genetic defects leading to immune deficiency have led to a new name for all congenital disorders that primarily impact immune function - inborn errors of immunity (IEI). While controlling infections is critical for treatment of patients with IEI, recognition and management of noninfectious complications should also be a focus of comprehensive management of these conditions. Major advances in use of definitive therapies including hematopoietic stem cell transplant, gene therapy, and gene editing have allowed for improved outcomes in cellular and phagocytic immune defects.

Summary: There are now over 550 identified IEI, and effective management of these conditions requires a multidisciplinary approach to monitoring, preventing, and treating both infectious and noninfectious complications of IEI.

Purpose of review: To review the current literature surrounding impact of sociodemographic factors, including race, ethnicity, and socioeconomic status, on care disparities for inborn errors of immunity (IEI).

Recent findings: There is a growing body of literature indicating significant sociodemographic and geographical disparities in diagnosis, management, and clinical outcomes of IEI. Historically underserved populations are more likely to experience underdiagnosis, diagnostic delay, and more severe adverse health events, including more infections and earlier death. Implementation of universal newborn screening and no-cost genetic testing programs have helped address the cost barriers to early diagnosis, representing important steps towards addressing diagnostic disparities in IEI. In parallel, recent advances in artificial intelligence offer promise by enhancing identification of IEI through automated analysis of clinical data. However, significant disparities remain.

Summary: This review highlights sociodemographic drivers of care disparities for IEI. More inclusive screening and diagnostic tools, such as use of unbiased molecular and artificial intelligence approaches, may offer critical opportunities to close these gaps for these most vulnerable IEI patient populations.

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.