Publications by authors named "Megan Stringfellow"
Cortical visual impairment is particularly relevant in children with neurodevelopmental disorders yet remains underdiagnosed. This study assessed the prevalence and severity of cortical visual impairment in 4 neurogenetic conditions: STXBP1, SLC6A1, Ring 14, and 8p-related disorders. We also evaluated the -Clinical Severity Assessment-Clinician vision subdomain as a diagnostic tool and examined the association between cortical visual impairment and developmental outcomes.
View Article and Find Full Text PDFChromosome 8p Syndromes Clinical Presentation and Management Guidelines.
Kourtney Santucci
,
Kristina E Malik
,
Katie Angione
,
Dana Bennink
,
Andrea Gerk
,
Megan Stringfellow
Clin Genet
February 2025
Article Synopsis
- Rearrangements on the p-arm of Chromosome 8 can lead to various neurodevelopmental issues, including epilepsy and developmental delays, along with potential heart and brain malformations.
- Most patients in this study exhibit a specific type of rearrangement characterized as inverted-duplication deletion, but other changes like deletions and duplications also show similar effects.
- The report provides detailed descriptions of patients based on their chromosomal changes, shares neuro-psychometric data, and offers care guidelines for those working with patients affected by Chromosome 8p Syndromes based on experiences from a specialized program.