Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome.

The shift to a genotype-first approach in genetic diagnostics has revolutionized our understanding of neurodevelopmental disorders, expanding both their molecular and phenotypic spectra. Kleefstra syndrome (KLEFS1) is caused by EHMT1 haploinsufficiency and exhibits broad clinical manifestations. EHMT1 encodes euchromatic histone methyltransferase-1-a pivotal component of the epigenetic machinery.

Childhood Opportunity and Acute Interstage Outcomes: A National Pediatric Cardiology Quality Improvement Collaborative Analysis.

Background: The interstage period after discharge from stage 1 palliation carries high morbidity and mortality. The impact of social determinants of health on interstage outcomes is not well characterized. We assessed the relationship between childhood opportunity and acute interstage outcomes.

Rib-on-Pelvis Deformity and Reported Pain in Neuromuscular Early-Onset Scoliosis.

Background: Neuromuscular early-onset scoliosis (N-EOS) often presents with a long sweeping thoracolumbar scoliosis and pelvic obliquity. With severe pelvic obliquity, the ribs come into contact with the high side of the pelvis, termed rib-on-pelvis deformity (ROP). The goal of this study is to evaluate whether ROP is associated with reported pain and other health-related quality of life (HRQOL) measures.

Surgical approaches to congenital diaphragmatic hernia.

Surgical repair of the diaphragm is essential for survival in congenital diaphragmatic hernia (CDH). There are many considerations surrounding the operation - why the operation matters, optimal timing of repair and its relation to extracorporeal life support (ECLS) use, minimally invasive versus open approaches, and strategies for reconstruction. Surgery is both affected by, and affects, the physiology of these infants and is an important factor in determining long-term outcomes.

Demonstrating responsiveness of the pediatric cardiac quality of life inventory in children and adolescents undergoing arrhythmia ablation, heart transplantation, and valve surgery.

Purpose: Pediatric Cardiac Quality of Life Inventory (PCQLI) is a disease-specific pediatric cardiac health-related quality of life (HRQOL) instrument that is reliable, valid, and generalizable. We aim to demonstrate PCQLI responsiveness in children undergoing arrhythmia ablation, heart transplantation, and valve surgery before and after cardiac intervention.

Methods: Pediatric cardiac patients 8-18 years of age from 11 centers undergoing arrhythmia ablation, heart transplantation, or valve surgery were enrolled.

Wilms tumor characteristics, surgical management, outcomes, and chronic kidney disease in children with WAGR syndrome: A report from the International WAGR Syndrome Association survey.

Introduction: Children with WAGR (Wilms tumor, aniridia, genitourinary anomalies, and range of development delays) syndrome are predisposed to Wilms tumor (WT) and intrinsic kidney disease. Using the comprehensive International WAGR Syndrome Association (IWSA) survey of children with WAGR syndrome, we analyzed tumor characteristics, treatment and congenital risk factors, and kidney function in children with WAGR and WT.

Methods: Descriptive statistics were utilized including demographics, treatment strategies, and patient outcomes.

Approach to Constipation in Children: Recommendations for Evaluation and Management.

Constipation is common in childhood, and most patients can be successfully managed by their primary care provider. However, some patients will require more specialized management either due to an underlying congenital colorectal disorder such as Hirschsprung disease or anorectal malformation or due to severe functional constipation that is refractory to medical management.

Risk Factors for Death or Transplant After Stage 2 Palliation for Single Ventricle Heart Disease.

Background: For infants with single ventricle heart disease, the time after stage 2 procedure (S2P) is believed to be a lower risk period compared with the interstage period; however, significant morbidity and mortality still occur.

Objectives: This study aimed to identify risk factors for mortality or transplantation referral between S2P surgery and the first birthday.

Methods: Retrospective cohort analysis of infants in the National Pediatric Cardiology Quality Improvement Collaborative who underwent staged single ventricle palliation from 2016 to 2022 and survived to S2P.

Racial and Ethnic Variation in ECMO Utilization and Outcomes in Pediatric Cardiac ICU Patients.

Background: Previous studies have reported racial disparities in extracorporeal membrane oxygenation (ECMO) utilization in pediatric cardiac patients.

Objectives: The objective of this study was to determine if there was racial/ethnic variation in ECMO utilization and, if so, whether mortality was mediated by differences in ECMO utilization.

Methods: This is a multicenter, retrospective cohort study of the Pediatric Cardiac Critical Care Consortium clinical registry.

Solitary Tumefactive Demyelinating Lesions in Children: Clinical and Magnetic Resonance Imaging Features, Pathologic Characteristics, and Outcomes.

Background: Isolated tumefactive demyelinating lesions (≥2 cm) may be difficult to distinguish from contrast-enhancing brain tumors, central nervous system infections, and (rarely) tissue dysgenesis, which may all occur with increased signal on T2-weighted images. Establishing an accurate diagnosis is essential for management, and we delineate our single-center experience.

Methods: We performed a retrospective review of medical records, imaging, and biopsy specimens for patients under 18 years presenting with isolated tumefactive demyelination over a 10-year period.

Feeding Variation Among Infants in Acute Care Cardiology Units.

Infants with heart disease are at high risk of feeding difficulties and complications. Feeding practices amongst acute care cardiology units are not standardized. This study aims to describe feeding practices for infants at the time of discharge from a Pediatric Acute Care Cardiology Collaborative (PAC) center and practice variation between centers.

Examining where to go: pediatric psychology trainees' perception of their graduate training in culture and diversity.

Objective: Culture and diversity-related training is critical to the development of competent pediatric psychologists. Evaluation of training efforts have been conducted at the program level, yet evaluation of trainee experiences in culture and diversity-related training remains unassessed. This trainee-led study was the first formal assessment of pediatric psychology trainee experiences of culture and diversity-related training and the impact of training on their own cultural humility.

Sugammadex use in pediatric patients with stage IV-V chronic kidney disease in a quaternary referral hospital: a case series.

Background: Sugammadex is a pharmacologic agent that provides rapid reversal of neuromuscular blockade via encapsulation of the neuromuscular blocking agent (NMBA). The sugammadex-NMBA complex is primarily cleared through glomerular filtration from the kidney, raising the possibility that alterations in renal function could affect its elimination. In pediatric patients, the benefits of sugammadex have led to widespread utilization; however, there is limited information on its application in pediatric renal impairment.

Development of Consensus-Based Best Practice Guidelines for the Perioperative and Postoperative Care of Pediatric Patients With Spinal Deformity and Programmable Implanted Devices.

Study Design: Modified Delphi consensus study.

Objective: To develop consensus-based best practices for the care of pediatric patients who have implanted programmable devices (IPDs) and require spinal deformity surgery.

Summary Of Background Data: Implanted programmable devices (IPDs) are often present in patients with neuromuscular or syndromic scoliosis who require spine surgery.

Development and preliminary validation of the personalized cystic fibrosis medication questionnaire (PCF-MQ).

Background: A personalized approach to assessing medication knowledge may identify opportunities for education to support self-management of cystic fibrosis (CF). This project describes the development, scoring, and preliminary validity of the Personalized CF Medication Questionnaire (PCF-MQ), designed to assess knowledge of prescribed CF medication purpose, administration, and dose and frequency.

Methods: Participants completed the PCF-MQ, the Knowledge of Disease Management (KDM-CF), and the Cystic Fibrosis-Medication Beliefs Questionnaire (CF-MBQ).

Nonoperative Versus Operative Treatment of Z-Type Comminuted Clavicle Fractures in Adolescents: A Prospective Substratified Cohort Analysis.

Objectives: To compare the clinical, radiographic, and patient-reported outcomes of nonoperative and operative treatment of adolescents with comminuted "Z-type" midshaft clavicle fractures.

Design: Prospective observational cohort.

Setting: Eight tertiary care pediatric centers.

A Novel Mental Health Curriculum Pilot for Pediatric Cardiology Fellows: Preparing the Subspecialist to Expand the Team.

Mental health (MH) is an important, yet understudied area of care for patients with congenital heart disease (CHD). Pediatric subspecialty fellows believe MH should be within their scope of practice, but few feel confident in their ability to appropriately screen, evaluate, manage, and make treatment referrals for youth with CHD and concurrent MH concerns. A 6-session, didactic-based curriculum was designed by an interprofessional team of experts.

Development and Validation of a Ready-to-Talk Measure for Use in Adolescents and Young Adults Living With Advanced Cancer.

Background: In the era of evolving and emerging therapies, adolescents and young adults (AYAs) living with advanced cancer experience a high degree of uncertainty, making palliative care and end-of-life (PCEOL) discussions difficult. Clinical conversations determine values/preferences that guide shared decision-making and goals of treatment, including end-of-life care when cancer progresses. Initiating PCEOL conversations is challenging for clinicians.

Predicting Stroke for Pediatric Patients Supported With Ventricular Assist Devices: A Pedimacs Report.

Background: The Pediatric Interagency Registry for Mechanical Circulatory Support (Pedimacs) provides detailed understanding on pediatric patients supported with ventricular assist devices (VADs). We sought to identify important variables affecting the incidence of stroke in pediatric VADs.

Methods: Between 2012 and 2022, 1463 devices in 1219 patients were reported to Pedimacs from 40 centers in patients aged <19 years at their first VAD implantation.