Publications by authors named "Caroline Hagedorn"
Article Synopsis
- The study aims to describe the phenotypic and genotypic spectrum of a neurodevelopmental disorder linked to a specific gene implicated in periventricular nodular heterotopia (PVNH).
- Researchers examined 17 individuals with variants, identifying several types of genetic mutations and their effects on brain structure and function.
- Findings highlighted a range of symptoms, including intellectual disability, seizures, microcephaly, and various neurological and sensory defects, confirming the gene's role in this autosomal dominant syndrome characterized by abnormal neuronal migration.
Neurofibromatosis type 1 (NF1)-associated primary intramedullary spinal cord ganglioglioma has only rarely been reported. Because of frequent nonresectability, they pose significant management challenges despite clinical indolence. This report describes a 4-year-old girl with NF1 who was found to have multiple discrete, infiltrative intramedullary cord masses, and biopsy demonstrated World Health Organization grade I ganglioglioma.
View Article and Find Full Text PDFPurpose: To characterize high emergency department (ED) use by children with tracheostomies and complex chronic conditions, to distinguish avoidable from unavoidable ED visits, and to describe the financial impact of avoidable visits.
Methods: Children with tracheostomies in a pediatric tertiary care center with the highest ED utilization were identified via analysis of administrative data. Six experts in interdisciplinary dyads reviewed the records from all ED visits for these children, and distinguished avoidable from unavoidable visits.
Purpose: To describe parent perceptions of their child's quality of life (QOL) and their satisfaction with health care for a group of children with medical complexity (CMC), and to determine whether parent perceptions of child well-being are associated with QOL and health care satisfaction.
Methods: Participants were parents or legal guardians of children enrolled in a novel program of intensive outpatient care for CMC. Participants completed 7-item questionnaires to ascertain their perceptions of their child's well-being, QOL and health care satisfaction.