Dataset Information

Costs of the diagnostic odyssey in children with inherited leukodystrophies.

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.

SUBMITTER: Richards J

PROVIDER: S-EPMC4603881 | biostudies-literature | 2015 Sep

REPOSITORIES: biostudies-literature

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Publications

Costs of the diagnostic odyssey in children with inherited leukodystrophies.

Richards Jackson J Korgenski E Kent EK Srivastava Rajendu R Bonkowsky Joshua L JL

Neurology 20150828 13

<h4>Objectives</h4>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.<h4>Methods</h4>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 ...[more]

PMID: 26320197

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Project description:ImportanceThe leukodystrophies comprise a clinically and genetically heterogeneous group of progressive hereditary neurological disorders mainly affecting the myelin in the central nervous system. Their onset is variable from childhood to adulthood and presentation can be with a variety of clinical features that include mainly for adult-onset cases cognitive decline, seizures, parkinsonism, muscle weakness, neuropathy, spastic paraplegia, personality/behavioral problems, and dystonia. Recently, Rademakers and colleagues identified mutations in the CSF1R gene as the cause of hereditary diffuse leukoencephalopathy with spheroids (HDLS), offering the possibility for an in-life diagnosis. The detection of mutations in this gene in cases diagnosed with different clinical entities further demonstrated the difficulties in the clinical diagnosis of HDLS.ObjectiveTo better understand the genetic role of mutations in this gene, we sequenced a large cohort of adult-onset leukodystrophy cases.DesignWhole-exome sequencing and follow up-screening by Sanger sequencing.SettingCollaborative study between the Institute of Neurology, University College London and the Inserm, Paris, France.ParticipantsA total of 114 probands, mostly European patients, with a diagnosis of adult-onset leukodystrophy or atypical cases that could fit within a picture of leukodystrophy. These included 3 extended families within the spectrum of leukodystrophy phenotype.InterventionsWhole-exome sequencing in a family and Sanger sequencing of CSF1R.Main outcomes and measuresMutations in CSF1R.ResultsWe identified 12 probands with mutations in CSF1R. The clinical diagnoses given to these patients included dementia with spastic paraplegia, corticobasal degeneration syndrome, and stroke disorders. Our study shows that CSF1R mutations are responsible for a significant proportion of clinically and pathologically proven HDLS.Conclusions and relevanceThese results give an indication of the frequency of CSF1R mutations in a European leukodystrophy series and expand the phenotypic spectrum of disorders that should be screened for this gene.

Dataset Information

Costs of the diagnostic odyssey in children with inherited leukodystrophies.

Objectives

Methods

Results

Conclusions

Publications

Costs of the diagnostic odyssey in children with inherited leukodystrophies.

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