Publications by authors named "Ariel Vincent"
Objective: Metachromatic leukodystrophy (MLD) is a rare neurodegenerative disorder. Emerging therapies are most effective in the presymptomatic phase, and thus defining this window is critical. We hypothesize that early development delay may precede developmental plateau.
View Article and Find Full Text PDFBackground And Objectives: Aicardi Goutières syndrome (AGS) is type I interferonopathy characterized by severe neurologic impairment. Although many children with AGS demonstrate motor and expressive language deficits, the magnitude of receptive language impairment is uncharacterized. We sought to characterize cognitive function in AGS-affected children using assessment tools with reduced dependence on motor abilities and compare cognitive testing outcomes with overall severity and parental assessment of adaptive behavior.
View Article and Find Full Text PDFArticle Synopsis
- Aicardi-Goutières syndrome is a genetic disorder that causes widespread neurological issues, with specific effects on fine and visual motor skills not well understood.
- A study involving 74 individuals utilized the Peabody Developmental Motor Scales-2 to assess fine and visual motor performance in relation to disease severity and genotype, revealing strong correlations between neurologic severity and motor skills.
- Findings indicated that the Peabody scales could effectively differentiate motor skill levels in varying degrees of the syndrome, providing insights that may improve clinical care and research approaches for affected individuals.
Growing interest in therapeutic development for rare diseases necessitate a systematic approach to the collection and curation of natural history data that can be applied consistently across this group of heterogenous rare diseases. In this study, we discuss the challenges facing natural history studies for leukodystrophies and detail a novel standardized approach to creating a longitudinal natural history study using existing medical records. Prospective studies are uniquely challenging for rare diseases.
View Article and Find Full Text PDFAicardi-Goutières syndrome (AGS) is a rare genetic disorder characterized by a spectrum of motor abilities. While the Aicardi-Goutières syndrome severity score favors severely impacted individuals, there is an unmet need to define tools measuring function across the Aicardi-Goutières syndrome spectrum as potential outcome assessments for future clinical trials. Gross Motor Function Measure-88 (GMFM-88) and AGS Severity Scale were administered in individuals affected by Aicardi-Goutières syndrome (n = 71).
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- High-pressure situations in the operating room require quick, systematic responses from a well-coordinated team, where mobile devices can play a crucial role in providing essential information during critical events.
- The Pedi Crisis 2.0 app was developed as a mobile resource for clinicians, featuring organized checklists and tools to assist in managing pediatric perioperative emergencies effectively.
- Usability testing indicated that the app is user-friendly and well-received by clinicians, making it a valuable tool for real-time use and self-study, available for free on both iOS and Android platforms.
Background: Pediatric complex cranial vault reconstruction (CCVR) surgery is often associated with significant blood loss and transfusion. The authors recently changed our transfusion practice during CCVR to using whole blood (WB) instead of reconstituted blood (RB). The aim of this study was to assess the impact of this practice change.
View Article and Find Full Text PDFBackground: Perioperative pediatric adverse events have been challenging to study within and across institutions due to varying definitions, low event rates, and incomplete capture.
Aim: The aim of this study was to determine perioperative adverse event prevalence and to evaluate associated case characteristics and potential contributing factors at an academic pediatric quaternary-care center.
Methods: At the Children's Hospital of Philadelphia (CHOP), perioperative adverse events requiring rapid response assistance are termed Anesthesia Now (AN!) events.