Outcome of neonatal screening for medium-chain acyl-CoA dehydrogenase deficiency in Australia: a cohort study

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dc.contributor.author Wilcken, B
dc.contributor.author Haas, M
dc.contributor.author Joy, P
dc.contributor.author Wiley, V
dc.contributor.author Chaplin, M
dc.contributor.author Black, C
dc.contributor.author Fletcher, J
dc.contributor.author McGill, J
dc.contributor.author Boneh, A
dc.date.accessioned 2009-12-21T02:34:04Z
dc.date.issued 2007-01-06
dc.identifier.citation Lancet, 2007, 369 (9555), pp. 37 - 42
dc.identifier.issn 0140-6736
dc.identifier.other C1 en_US
dc.identifier.uri http://hdl.handle.net/10453/4597
dc.description.abstract Background: Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is the disorder thought most to justify neonatal screening by tandem-mass spectrometry because, without screening, there seems to be substantial morbidity and mortality. Our aim was to assess the overall effectiveness of neonatal screening for MCAD deficiency in Australia. Methods: We identified MCAD-deficient patients from a total population of 2 495 000 Australian neonates (810 000 screened) born between April 1, 1994, and March 31, 2004. Those from a cohort of 1 995 000 (460 000 screened) were followed up for at least 4 years, and we recorded number of deaths and severe episodes, medical and neuropsychological outcome, and hospital admissions within the screened and unscreened groups. Findings: In cohorts aged at least 4 years there were 35 MCAD-deficient patients in those not screened (2·28 per 100 000 total population) and 24 in the screened population (5·2 per 100 000). We estimated that patients with this disorder in the unscreened cohort remained undiagnosed. Before 4 years of age, three screened patients had an episode of severe decompensation (including one neonatal death) versus 23 unscreened patients (including five deaths). At the most conservative estimate, relative risk of an adverse event was 0·44 (95% CI 0·13-1·45). In the larger cohort the relative risk (screened vs unscreened) of an adverse event by age 2 years was 0·26 (95% CI 0·07-0·97), also a conservative estimate. 38 of 52 living patients had neuropsychological testing, with no suggestions of significant differences in general cognitive outcome between the groups. Interpretation: Screening is effective in patients with MCAD deficiency since early diagnosis reduces deaths and severe adverse events in children up to the age of 4 years. © 2007 Elsevier Ltd. All rights reserved.
dc.language eng
dc.relation.isbasedon 10.1016/S0140-6736(07)60029-4
dc.title Outcome of neonatal screening for medium-chain acyl-CoA dehydrogenase deficiency in Australia: a cohort study
dc.type Journal Article
dc.parent Lancet
dc.journal.volume 9555
dc.journal.volume 369
dc.journal.number 9555 en_US
dc.publocation London, England en_US
dc.identifier.startpage 37 en_US
dc.identifier.endpage 42 en_US
dc.cauo.name BUS.Centre for Health Economics Research and Evaluation en_US
dc.conference Verified OK en_US
dc.for 111702 Aged Health Care
dc.personcode 020119
dc.percentage 100 en_US
dc.classification.name Aged Health Care en_US
dc.classification.type FOR-08 en_US
dc.location.activity ISI:000243413700027 en_US
pubs.embargo.period Not known
pubs.organisational-group /University of Technology Sydney
pubs.organisational-group /University of Technology Sydney/Faculty of Business
pubs.organisational-group /University of Technology Sydney/Strength - Health Economics and Research Evaluation
utslib.copyright.status Closed Access
utslib.copyright.date 2015-04-15 12:17:09.805752+10
pubs.consider-herdc true
utslib.collection.history Closed (ID: 3)

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