title: Retrospective estimation of the birth prevalence for delayed onset disorders: application to cystic fibrosis in Nova Scotia.
abstract: Maximum likelihood methods are used to estimate the birth prevalence, the age-at-diagnosis distribution, and the number of infants born with CF in Nova Scotia over a 20 year period. The data were taken from a registry of CF cases, and, because of the delayed onset of symptoms, some CF affected individuals were not diagnosed by the end of the study period. A goodness-of-fit test for assessing whether the age-at-diagnosis distribution is stable over the 20 years is provided. These methods could be applied equally well to data on any genetic disorder with delayed onset.
authors.affiliation: Department of Health Care and Epidemiology, University of British Columbia, Vancouver, B.C., Canada.
authors.forename: M Y
authors.initials: MY
authors.lastname: Chong
authors.forename: D C
authors.initials: DC
authors.lastname: Hamilton
authors.forename: D E
authors.initials: DE
authors.lastname: Cole
mesh_terms: D000293:Adolescent; D000328:Adult; D000367:Age Factors; D002648:Child; D002675:Child, Preschool; D003430:Cross-Sectional Studies; D003550:Cystic Fibrosis / Q000175:diagnosis / Q000453:epidemiology* / Q000235:genetics; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D016013:Likelihood Functions; D009674:Nova Scotia / Q000453:epidemiology; D012189:Retrospective Studies; D013997:Time Factors