title: The diagnostic pathway in complex paediatric neurology: a cost analysis.
abstract: BACKGROUND
  The diagnostic trajectory of complex paediatric neurology may be long, burdensome, and expensive while its diagnostic yield is frequently modest. Improvement in this trajectory is desirable and might be achieved by innovations such as whole exome sequencing. In order to explore the consequences of implementing them, it is important to map the current pathway. To that end, this study assessed the healthcare resource use and associated costs in this diagnostic trajectory in the Netherlands.
  
  
  METHODS
  Fifty patients presenting with complex paediatric neurological disorders of a suspected genetic origin were included between September 2011 and March 2012. Data on their healthcare resource utilization were collected from the hospital medical charts. Unit prices were obtained from the Dutch Healthcare Authority, the Dutch Healthcare Insurance Board, and the financial administration of the hospital. Bootstrap simulations were performed to determine mean quantities and costs.
  
  
  RESULTS
  The mean duration of the diagnostic trajectory was 40 months. A diagnosis was established in 6% of the patients. On average, patients made 16 physician visits, underwent four imaging and two neurophysiologic tests, and had eight genetic and 16 other tests. Mean bootstrapped costs per patient amounted to €12,475, of which 43% was for genetic tests (€5,321) and 25% for hospital visits (€3,112).
  
  
  CONCLUSIONS
  Currently, the diagnostic trajectories of paediatric patients who have complex neurological disease with a strong suspected genetic component are lengthy, resource-intensive, and low-yield. The data from this study provide a backdrop against which the introduction of novel techniques such as whole exome sequencing should be evaluated.
authors.affiliation: Radboud University Medical Center, Department for Health Evidence, Radboud Institute for Health Sciences, Nijmegen, The Netherlands. Electronic address: Kirsten.vanNimwegen@radboudumc.nl.
authors.forename: K J M
authors.initials: KJ
authors.lastname: van Nimwegen
authors.affiliation: Radboud University Medical Center, Department of Neurology, Nijmegen, The Netherlands. Electronic address: Jolanda.Schieving@radboudumc.nl.
authors.forename: J H
authors.initials: JH
authors.lastname: Schieving
authors.affiliation: Radboud University Medical Center, Department of Neurology, Nijmegen, The Netherlands. Electronic address: Michel.Willemsen@radboudumc.nl.
authors.forename: M A A P
authors.initials: MA
authors.lastname: Willemsen
authors.affiliation: Radboud University Medical Center, Department of Genetics, Nijmegen, The Netherlands. Electronic address: Joris.Veltman@radboudumc.nl.
authors.forename: J A
authors.initials: JA
authors.lastname: Veltman
authors.affiliation: Radboud University Medical Center, Department of IQ Healthcare, Nijmegen, The Netherlands. Electronic address: Simone.vanderBurg@radboudumc.nl.
authors.forename: S
authors.initials: S
authors.lastname: van der Burg
authors.affiliation: Radboud University Medical Center, Department for Health Evidence, Radboud Institute for Health Sciences, Nijmegen, The Netherlands. Electronic address: GertJan.vanderWilt@radboudumc.nl.
authors.forename: G J
authors.initials: GJ
authors.lastname: van der Wilt
authors.affiliation: Radboud University Medical Center, Department for Health Evidence, Radboud Institute for Health Sciences, Nijmegen, The Netherlands. Electronic address: Janneke.Grutters@radboudumc.nl.
authors.forename: J P C
authors.initials: JP
authors.lastname: Grutters
mesh_terms: D000293:Adolescent; D000367:Age Factors; D002648:Child; D002675:Child, Preschool; D003365:Costs and Cost Analysis; D059472:Exome / Q000235:genetics; D005260:Female; D005820:Genetic Testing / Q000191:economics; D006295:Health Resources / Q000191:economics / Q000706:statistics & numerical data; D006760:Hospitalization / Q000191:economics; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009313:National Health Programs / Q000191:economics; D009422:Nervous System Diseases / Q000175:diagnosis* / Q000191:economics* / Q000235:genetics; D009426:Netherlands; D009460:Neurologic Examination / Q000191:economics*; D009462:Neurology / Q000191:economics*; D010372:Pediatrics / Q000191:economics*; D017422:Sequence Analysis, DNA; D016896:Treatment Outcome
keywords: Children; Diagnostics; Health care utilization; Neurological disorders