2026-09-24T08:17:31Zhttps://ruor.uottawa.ca/server/oai/request

oai:ruor.uottawa.ca:10393/315092024-02-23T08:55:20Zcom_10393_242col_10393_11105

Karaceper, Maria D Potter, Elizabeth Chakraborty, Pranesh 2014-08-29T12:31:36Z 2014-08-29T12:31:36Z 2014 2014 http://hdl.handle.net/10393/31509 http://dx.doi.org/10.20381/ruor-6579 Objective: To describe the epidemiology and health system impact of medium-chain acyl-CoA dehydrogenase deficiency (MCADD) in Ontario. Methods: Following a review of methods to estimating robust health event rates for small populations, this study described health services use among infants diagnosed with MCADD or received a false positive newborn screening result for MCADD from April 2006 through March 2010. Each cohort was compared with screen negative infants by linking to databases encompassing physician visits, emergency department care, and hospitalizations. Results: Relative to comparison birth cohorts, children with MCADD (n=40) experienced significantly higher rates of all health service types, regardless of age at the time of visit; infants with false positive results for MCADD (n=43) experienced significantly higher rates of physician visits and hospitalizations in the first year of life only. Conclusion: This study makes an important contribution to the limited existing research describing the health system impact of rare diseases. en Université d'Ottawa / University of Ottawa health services research metabolic diseases newborn screening false positive results The Epidemiology and Health System Impact of Medium-Chain Acyl-CoA Dehydrogenase Deficiency Among Affected Children and Those with False Positive Newborn Screening Results in Ontario, Canada Thesis Épidémiologie et médecine sociale / Epidemiology and Community Medicine MSc masters Médecine / Medicine MSc Masters Médecine / Medicine Épidémiologie et médecine sociale / Epidemiology and Community Medicine open.access