Dilated aorta in CNOT3 -related neurodevelopmental disorder: 'expanding' the phenotype.

Introduction: Neurodevelopmental disorders (NDDs) comprise conditions that emerge during the child's development and contribute significantly to global health and economic burdens. De novo variants in CNOT3 have been linked to NDDs and understanding the genotype-phenotype relationship between CNOT3 and NDDs will aid in improving diagnosis and management.

Methods: In this study, we report a case of a patient with CNOT3 -related NDD who presented with progressive aortic dilatation, a feature not reported previously.

Development of the Parental Experience with Care for Children with Serious Illnesses (PRECIOUS) quality of care measure.

Background: Parent-reported experience measures are part of pediatric Quality of Care (QoC) assessments. However, existing measures were not developed for use across multiple healthcare settings or throughout the illness trajectory of seriously ill children. Formative work involving in-depth interviews with parents of children with serious illnesses generated 66 draft items describing key QoC processes.

PRECIOUS demonstrated satisfactory measurement properties for assessing the quality of care for children with serious illnesses.

Objectives: To determine the measurement properties of PaRental Experience with care for Children with serIOUS illnesses (PRECIOUS), a parent-reported measure of Quality of Care for seriously ill children across care settings and illness trajectories.

Study Design And Setting: Parents self-administered baseline and 2-week follow-up surveys online. Exploratory Factor Analysis was used to determine PRECIOUS's factor structure and select items.

A qualitative exploration of parental perspectives on quality of care for children with serious illnesses.

Introduction: Being responsive to end-users is essential to good care. Limited in-depth exploration of parental perspectives on care received by children over the course of serious illness has hindered the development of process measures to evaluate quality of care. Our objective was to identify the key process indicators prioritized by parents in the care of seriously ill young children and develop a framework to guide assessment of quality of care.

Defining Pediatric Chronic Critical Illness: A Scoping Review.

Objectives: Children with chronic critical illness (CCI) are hypothesized to be a high-risk patient population with persistent multiple organ dysfunction and functional morbidities resulting in recurrent or prolonged critical care; however, it is unclear how CCI should be defined. The aim of this scoping review was to evaluate the existing literature for case definitions of pediatric CCI and case definitions of prolonged PICU admission and to explore the methodologies used to derive these definitions.

Data Sources: Four electronic databases (Ovid Medline, Embase, CINAHL, and Web of Science) from inception to March 3, 2021.

Enhancing frontline workforce volunteerism through exploration of motivations and impact during the COVID-19 pandemic.

Objectives: During a pandemic, healthcare workers are requested to volunteer for potentially high-risk frontline duties outside of usual hospital and primary care clinic settings in order to better serve vulnerable communities. Examination of volunteer motivations and impact of such experiences can drive more effective pandemic response efforts with regards to volunteer recruitment and retention. This study aims to explore the motivational factors underlying healthcare worker volunteerism in COVID-19 pandemic response operations in the community, and to describe the impact of such operations on volunteers, in order to highlight important volunteer recruitment strategies and ensure volunteer sustainability.

The Next Pandemic: Supporting COVID-19 Frontline Doctors Through Film Discussion.

This paper describes an innovative just-in-time health humanities programme to educate and provide support to COVID-19 frontline doctors-in-training. The programme incorporates small-group screening of the Netflix documentary, The Next Pandemic from the Explained series, followed by a one-hour facilitated discussion to explore themes surrounding the current pandemic and its impact on frontline doctors in a tertiary paediatric hospital in Singapore. Themes derived from the film included preparedness, blame, and the impact on healthcare workers and public, which were further discussed to include concerns regarding current local readiness levels given global connectivity, the need for international cooperation, and the effects of blame such as racism and prejudice.

Epidemiology of Pediatric Tracheostomy and Risk Factors for Poor Outcomes: An 11-Year Single-Center Experience.

Objective: Children with long-term tracheostomies are at higher risk of complications. This study aims to describe the epidemiology, outcomes, and factors associated with successful decannulation in children undergoing tracheostomy.

Study Design: Case series with chart review.

Ketamine-based procedural sedation and analgesia for botulinum toxin A injections in children with cerebral palsy.

Introduction: Adequate procedural sedation and analgesia (PSA) is essential to reduce pain and distress for children undergoing intramuscular botulinum toxin (BoNT-A) injections. This study describes our institution's experience with ketamine-based PSA in terms of safety and efficacy in children with cerebral palsy receiving BoNT-A injections.

Material And Methods: This is an analysis of ketamine-based PSA for children undergoing BoNT-A injections between January 2000 and October 2014.

Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD) syndrome may have a hypothalamus-periaqueductal gray localization.

Background: Anatomical localization of the rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD) syndrome has proved elusive. Most patients had neuroimaging after cardiorespiratory collapse, revealing a range of ischemic lesions.

Patient Description: A 15-year-old obese boy with an acute febrile encephalopathy had hypoventilation, autonomic dysfunction, visual hallucinations, hyperekplexia, and disordered body temperature, and saltwater regulation.