Costs of the diagnostic odyssey in children with inherited leukodystrophies

Neurology
Jackson RichardsJoshua L Bonkowsky

Abstract

Our objective was to determine the extent of testing and costs solely related to diagnosis (the diagnostic odyssey) in a cohort of children with inherited leukodystrophies. We determined all inpatient and outpatient laboratory testing, including brain MRIs obtained for the purpose of diagnosis, over an 8-year time period in a retrospective population cohort of children with inherited leukodystrophies. Costs were determined from an activity-based cost accounting system and were standardized to 2013 constant US dollars. Each patient had on average 20 tests (range 2-42 tests), with costs of $4,200 (range $357-$15,611). Diagnostic yield plateaued after 25 tests, and costs increased significantly after 32 tests. Fifty-three percent of patients were diagnosed in 20 or fewer tests, compared with 17% if more than 20 tests were performed. Our findings provide details on the amount and costs of testing in children who often undergo a diagnostic odyssey. Our results suggest that diagnostic testing is a relatively modest contributor to the overall health care costs in patients with leukodystrophy, and offer insights into the diagnostic odyssey of children with neurologic impairment.

Associated Clinical Trials

References

Feb 25, 2009·Neurology·Raphael Schiffmann, Marjo S van der Knaap
Jul 28, 2010·Neurology·J L BonkowskyR Srivastava
Oct 17, 2012·The Journal of Pediatrics·Clint NelsonJoshua L Bonkowsky
Aug 21, 2013·Pediatric Neurology·Cameron J BrimleyJoshua L Bonkowsky
Jun 24, 2014·Annals of Clinical and Translational Neurology·Holly M AndersonJoshua L Bonkowsky

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Citations

Feb 2, 2016·Journal of Personalized Medicine·Heidi L RehmBirgit H Funke
May 23, 2017·Children·Krista OeiEyal Cohen
Mar 9, 2018·The Neuroradiology Journal·Ravi DatarChitra Prasad
Nov 22, 2017·European Journal of Human Genetics : EJHG·Robin Z HayeemsWendy J Ungar
Jun 17, 2020·Obstetrics and Gynecology·Brett D EinersonUNKNOWN Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) Maternal-Fetal Medicine Units (MFMU)
Sep 30, 2020·Journal of Medical Internet Research·Lara KühnleLorenz Grigull

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