Defining natural history: assessment of the ability of college students to aid in characterizing clinical progression of Niemann-Pick disease, type C
| Autor: | Evan James, Lindsey Jones, Margaret Devany, Kinzie Kiser, Joan Lee, Christine Kim, Laura Borgenheimer, Nicole M. Yanjanin, Mary Kearns, Brianna McSorley, Emily Kolbus, Bryce Ramos, Jenny Shin, Gregory Klazura, Abbey Moon, Catherine Tan, Omar Veloz, Anne Horst, Erin Brennan, Stephanie M. Sansone, Rani Gallardo, Olimpia Gutierrez, Catherine M. Miller, Teresa Raya, Timothy Spear, Mary Howard, Andrew Luttrell, Katherine McKeough, Chris Knoedler, Edwin Siu, Frannie Rudolf, Michael Clark, Shane O'Brien, Aaron Patzwahl, Lindsay Schwartz, Paula Olivieri, Allison Herschel, Stephen Riney, Kevin Moser, Emily Ly, Marie Pereira, Lauren Gabriel, Mary Kelly, Melissa Cheng, Kasturi Haldar, Mairaj Uddin, Elizabeth White, Courtney Ensslin, Daniel Castellanos, Craig Pymento, Nina Farivari, Lauren Lange, Jennifer VanTrieste, Moriah Castleman, Sean M. Mitchell, Ryan Shay, Jennifer Albus, Sarah Hodge, Katrina Epperson, Forbes D. Porter, Shanik Fernando, Samuel S. C. Rund, Eileena Li, Wei Lu, Erin Ramelb, Geoff Roberts, Marisa Truong, Natalie Bott, Mark Robertshaw |
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| Jazyk: | angličtina |
| Rok vydání: | 2011 |
| Předmět: |
Gerontology
medicine.medical_specialty Educational measurement Clinical Research Design Autosomal recessive Metabolic disorders Aptitude lcsh:Medicine Disease Severity of Illness Index Natural history of disease Medical Records Human genetics Diagnostic Medicine Severity of illness Genetics medicine Humans Longitudinal Studies Students Intensive care medicine lcsh:Science Biology Retrospective Studies Multidisciplinary business.industry Medical record lcsh:R Niemann-Pick Disease Type C Natural history Disease Progression Observational Studies Medicine lcsh:Q Educational Measurement Seasons Age of onset business Niemann-Pick disease Education Medical Undergraduate Research Article Test Evaluation Rare disease |
| Zdroj: | PLoS ONE, Vol 6, Iss 10, p e23666 (2011) PLoS ONE |
| ISSN: | 1932-6203 |
| Popis: | Niemann-Pick Disease, type C (NPC) is a fatal, neurodegenerative, lysosomal storage disorder. It is a rare disease with broad phenotypic spectrum and variable age of onset. These issues make it difficult to develop a universally accepted clinical outcome measure to assess urgently needed therapies. To this end, clinical investigators have defined emerging, disease severity scales. The average time from initial symptom to diagnosis is approximately 4 years. Further, some patients may not travel to specialized clinical centers even after diagnosis. We were therefore interested in investigating whether appropriately trained, community-based assessment of patient records could assist in defining disease progression using clinical severity scores. In this study we evolved a secure, step wise process to show that pre-existing medical records may be correctly assessed by non-clinical practitioners trained to quantify disease progression. Sixty-four undergraduate students at the University of Notre Dame were expertly trained in clinical disease assessment and recognition of major and minor symptoms of NPC. Seven clinical records, randomly selected from a total of thirty seven used to establish a leading clinical severity scale, were correctly assessed to show expected characteristics of linear disease progression. Student assessment of two new records donated by NPC families to our study also revealed linear progression of disease, but both showed accelerated disease progression, relative to the current severity scale, especially at the later stages. Together, these data suggest that college students may be trained in assessment of patient records, and thus provide insight into the natural history of a disease. |
| Databáze: | OpenAIRE |
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