title: Lifetime risk estimators in epidemiological studies of Krabbe Disease: Review and Monte Carlo comparison.
abstract: This review addresses difficulties arising in estimating epidemiological parameters of leukodystrophies and lysosomal storage disorders, with special focus on Krabbe disease. Although multiple epidemiological studies of Krabbe disease have been published, these studies are difficult to reconcile since they have used different study populations and varying methods of calculation. Confusion exists regarding which epidemiological parameters have been estimated; the current review shows that most previous estimates can be properly interpreted as lifetime risk at birth. One of the most common estimation methods is shown to be inaccurate, while two other methods are shown to be approximately accurate. Based on the results of the current paper, recommendations are made that are expected to improve the quality of future studies of Krabbe disease. It is anticipated that these recommendations will be applicable to epidemiological studies of other lysosomal storage disorders, as well as any other rare diseases diagnosed with enzymatic screening.
authors.affiliation: Department of Biostatistics; Population Health Observatory; School of Public Health and Health Professions; University at Buffalo; State University of New York; Buffalo, NY USA.
authors.forename: Alexander H
authors.initials: AH
authors.lastname: Foss
authors.affiliation: Hunter James Kelly Research Institute; Department of Neurology; University at Buffalo; State University of New York; Buffalo, NY USA.
authors.forename: Patricia K
authors.initials: PK
authors.lastname: Duffner
authors.affiliation: Department of Biostatistics; Population Health Observatory; School of Public Health and Health Professions; University at Buffalo; State University of New York; Buffalo, NY USA.
authors.forename: Randy L
authors.initials: RL
authors.lastname: Carter
keywords: Monte Carlo method; epidemiology; globoid cell; inborn errors; incidence; leukodystrophy; lifetime risk; lysosomal storage diseases; metabolism; prevalence