Literature DB >> 26320197

Costs of the diagnostic odyssey in children with inherited leukodystrophies.

Jackson Richards1, E Kent Korgenski1, Rajendu Srivastava1, Joshua L Bonkowsky2.   

Abstract

OBJECTIVES: 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.
METHODS: 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.
RESULTS: 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.
CONCLUSIONS: 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.
© 2015 American Academy of Neurology.

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Year:  2015        PMID: 26320197      PMCID: PMC4603881          DOI: 10.1212/WNL.0000000000001974

Source DB:  PubMed          Journal:  Neurology        ISSN: 0028-3878            Impact factor:   9.910


  8 in total

1.  National variation in costs and mortality for leukodystrophy patients in US children's hospitals.

Authors:  Cameron J Brimley; Jonathan Lopez; Keith van Haren; Jacob Wilkes; Xiaoming Sheng; Clint Nelson; E Kent Korgenski; Rajendu Srivastava; Joshua L Bonkowsky
Journal:  Pediatr Neurol       Date:  2013-09       Impact factor: 3.372

2.  Children with complex chronic conditions in inpatient hospital settings in the United States.

Authors:  Tamara D Simon; Jay Berry; Chris Feudtner; Bryan L Stone; Xiaoming Sheng; Susan L Bratton; J Michael Dean; Rajendu Srivastava
Journal:  Pediatrics       Date:  2010-09-20       Impact factor: 7.124

3.  Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders.

Authors:  Sarah E Soden; Carol J Saunders; Laurel K Willig; Emily G Farrow; Laurie D Smith; Josh E Petrikin; Jean-Baptiste LePichon; Neil A Miller; Isabelle Thiffault; Darrell L Dinwiddie; Greyson Twist; Aaron Noll; Bryce A Heese; Lee Zellmer; Andrea M Atherton; Ahmed T Abdelmoity; Nicole Safina; Sarah S Nyp; Britton Zuccarelli; Ingrid A Larson; Ann Modrcin; Suzanne Herd; Mitchell Creed; Zhaohui Ye; Xuan Yuan; Robert A Brodsky; Stephen F Kingsmore
Journal:  Sci Transl Med       Date:  2014-12-03       Impact factor: 17.956

4.  The burden of inherited leukodystrophies in children.

Authors:  J L Bonkowsky; C Nelson; J L Kingston; F M Filloux; M B Mundorff; R Srivastava
Journal:  Neurology       Date:  2010-07-21       Impact factor: 9.910

5.  Invited article: an MRI-based approach to the diagnosis of white matter disorders.

Authors:  Raphael Schiffmann; Marjo S van der Knaap
Journal:  Neurology       Date:  2009-02-24       Impact factor: 9.910

6.  Determinants of health care use in a population-based leukodystrophy cohort.

Authors:  Clint Nelson; Michael B Mundorff; E Kent Korgenski; Cameron J Brimley; Rajendu Srivastava; Joshua L Bonkowsky
Journal:  J Pediatr       Date:  2012-10-13       Impact factor: 4.406

7.  Trends in resource utilization by children with neurological impairment in the United States inpatient health care system: a repeat cross-sectional study.

Authors:  Jay G Berry; Annapurna Poduri; Joshua L Bonkowsky; Jing Zhou; Dionne A Graham; Chelsea Welch; Heather Putney; Rajendu Srivastava
Journal:  PLoS Med       Date:  2012-01-17       Impact factor: 11.069

8.  Preventable Infections in Children with Leukodystrophy.

Authors:  Holly M Anderson; Jacob Wilkes; E Kent Korgenski; Michael A Pulsipher; Anne J Blaschke; Adam L Hersh; Rajendu Srivastava; Joshua L Bonkowsky
Journal:  Ann Clin Transl Neurol       Date:  2014-05-01       Impact factor: 4.511

  8 in total
  8 in total

1.  Yield of next-generation neuropathy gene panels in axonal neuropathies.

Authors:  Diana C Lee; Lois Dankwa; Christyn Edmundson; David R Cornblath; Steven S Scherer
Journal:  J Peripher Nerv Syst       Date:  2019-11-19       Impact factor: 3.494

2.  Magnetic resonance imaging in the diagnosis of white matter signal abnormalities.

Authors:  Ravi Datar; Asuri Narayan Prasad; Keng Yeow Tay; Charles Anthony Rupar; Pavlo Ohorodnyk; Michael Miller; Chitra Prasad
Journal:  Neuroradiol J       Date:  2018-03-08

3.  Care and cost consequences of pediatric whole genome sequencing compared to chromosome microarray.

Authors:  Robin Z Hayeems; Jasmin Bhawra; Kate Tsiplova; M Stephen Meyn; Nasim Monfared; Sarah Bowdin; D James Stavropoulos; Christian R Marshall; Raveen Basran; Cheryl Shuman; Shinya Ito; Iris Cohn; Courtney Hum; Marta Girdea; Michael Brudno; Ronald D Cohn; Stephen W Scherer; Wendy J Ungar
Journal:  Eur J Hum Genet       Date:  2017-11-20       Impact factor: 4.246

4.  Genetic Testing among Children in a Complex Care Program.

Authors:  Krista Oei; Robin Z Hayeems; Wendy J Ungar; Ronald D Cohn; Eyal Cohen
Journal:  Children (Basel)       Date:  2017-05-22

5.  Positioning whole exome sequencing in the diagnostic pathway for rare disease to optimise utility: a protocol for an observational cohort study and an economic evaluation.

Authors:  Robin Z Hayeems; Francois Bernier; Kym M Boycott; Taila Hartley; Christine Michaels-Igbokwe; Deborah A Marshall
Journal:  BMJ Open       Date:  2022-10-10       Impact factor: 3.006

6.  Cost of Elective Labor Induction Compared With Expectant Management in Nulliparous Women.

Authors:  Brett D Einerson; Richard E Nelson; Grecio Sandoval; M Sean Esplin; D Ware Branch; Torri D Metz; Robert M Silver; William A Grobman; Uma M Reddy; Michael Varner
Journal:  Obstet Gynecol       Date:  2020-07       Impact factor: 7.623

7.  The Changing Landscape of Molecular Diagnostic Testing: Implications for Academic Medical Centers.

Authors:  Heidi L Rehm; Elizabeth Hynes; Birgit H Funke
Journal:  J Pers Med       Date:  2016-01-27

8.  Development of a Social Network for People Without a Diagnosis (RarePairs): Evaluation Study.

Authors:  Lara Kühnle; Urs Mücke; Werner M Lechner; Frank Klawonn; Lorenz Grigull
Journal:  J Med Internet Res       Date:  2020-09-29       Impact factor: 5.428

  8 in total

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