Affecting ~1 in 4000 to 6000 live births, 22q11.2 deletion syndrome (22q11.2DS) is the most common chromosomal microdeletion syndrome. It results from a 1.5 to 3 Mb heterozygous deletion at chromosome 22q11.2 and is associated with a broad spectrum of clinical manifestations, including cardiac defects, palatal abnormalities, thymic hypoplasia, developmental delays, and neuropsychiatric symptoms. Multiple techniques such as chromosomal microarray and sequencing techniques such as fluorescence in situ hybridization help in the diagnosis of 22q11.2DS. A multidisciplinary approach to management is required, involving cardiology, immunology, endocrinology, speech therapy, psychiatry, and genetics. Surveillance should include monitoring for immunodeficiency, hypocalcemia, thyroid dysfunction, hematologic complications, and psychiatric illness. Genetic counselling and prenatal testing are crucial components in guiding families and informing reproductive decision-making. Additionally, structured transition of care programs should be employed to ensure continued care into adulthood. Although 22q11.2DS has gained significant recognition in the past decades, educational gaps still persist for pediatricians, especially regarding when to suspect, genetic testing, and coordination of care. This review aims to provide insights into the epidemiology, pathogenesis, system-based clinical features, diagnosis, management, and surveillance of 22q11.2DS, highlighting practical strategies that can be employed by pediatricians to improve early detection and optimize long-term outcomes.

As mortality from pediatric critical illness has declined, post intensive care syndrome in pediatrics (PICS-p) has emerged as a framework to describe the broad and often long-lasting morbidities experienced by survivors of pediatric critical illness. PICS-p encompasses new or worsening impairment in physical, cognitive, emotional, and social health that affect both the child and their family. The term PICS-p also acknowledges and reinforces the traumatic impact of the critical care on the child and family dyad. Given the growing population of pediatric survivors of critical illness and the limited availability of newly emerging, specialized post-critical care clinics, it is imperative that general pediatricians, providing the child's medical home, are equipped to diagnose and manage PICS-p in the outpatient setting. In this review, we summarize the prevalence, pathophysiology, clinical course, and impact of PICS-p on children and families. We also review preventive strategies that can be implemented in the PICU and conclude with practical guidance for general pediatricians caring for children after critical illness.

Adolescent and young adult (hereafter, "youth") experimentation with pills and powders is increasingly risky due to an unpredictable and hazardous drug supply characterized by fentanyl contamination. Youth opioid overdose deaths have more than doubled since 2019, and overdose is now the third leading cause of death among US children and adolescents. Pediatricians have an opportunity to improve outcomes for youth who use opioids by addressing risk factors for problematic opioid use, recognizing early use, providing evidence-based treatment, educating on strategies to reduce harm and overdose, and engaging family and communities to support recovery and well-being. Yet pediatricians with insufficient training and/or experience may feel unprepared to provide this care. This review provides a detailed overview of youth opioid use disorder prevention, screening, diagnosis, and management with an emphasis on pharmacotherapy and behavioral treatments, frameworks to support engagement in care, and emerging strategies to prevent opioid-related harms, including overdose.

Accurate diagnosis is essential to appropriate care. Although urinary tract infection (UTI) is one of the most common bacterial infections in children, there is no gold standard for its diagnosis. During the American Academy of Pediatrics' revision of its Clinical Practice Guideline for the Diagnosis and Treatment of Urinary Tract Infection in Children from Eight Days to Five Years of Age, the Guideline panel established a revised UTI definition through an iterative discussion process. This article details the rationale behind those revisions. The definition of UTI is based in three domains: symptoms, signs of inflammation, and culture results. The panel focused the revision of the definition in the domains of inflammation and culture results. Although there is controversy in the literature regarding the inclusion of pyuria in the definition of UTI, current literature also supports that, in most clinical scenarios, pyuria is present in a UTI and should be included as a diagnostic criterion. Thus, the panel agreed that the UTI definition should include pyuria as a diagnostic criterion, and identified separate thresholds based on age and whether urine cultures results are available or pending. The other major domain where the panel closely examined the evidence was culture results. In accordance with the updated literature base, the panel modified the definition for positive culture on the basis of age and method of urine collection. The panel's goal in developing the new UTI definition was to use currently available evidence to optimize management of children with UTI by avoiding overdiagnosis and overtreatment, while minimizing the number of missed diagnoses and delaying treatment.