Neuropsychological functioning in children with Medium Chain Acyl coenzyme a Dehydrogenase Deficiency (MCADD): The impact of early diagnosis and screening on outcome

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dc.contributor.author Joy, P
dc.contributor.author Black, C
dc.contributor.author Rocca, A
dc.contributor.author Haas, MR
dc.contributor.author Wilcken, B
dc.date.accessioned 2010-05-28T09:51:01Z
dc.date.issued 2009-01
dc.identifier.citation Child Neuropsychology, 2009, 15 (1), pp. 8 - 20
dc.identifier.issn 0929-7049
dc.identifier.other C1 en_US
dc.identifier.uri http://hdl.handle.net/10453/9656
dc.description.abstract Children with medium chain acyl coenzyme A dehydrogenase deficiency (MCADD) have been reported to be at high risk for neurocognitive deficits. However this has not been systematically studied and little is known about the exact nature of neuropsychological sequelae or of the impact of early diagnosis and screening on outcome. We examined cognitive and adaptive outcome in children with MCADD (N = 38, age range: 2 years, 2 months - 10 years, 3 months) diagnosed either through a newborn screening program (tandem mass spectrometry/MSMS) or upon clinical presentation. There was no evidence of overall intellectual impairment in either groups but there was some suggestion of poorer verbal and specific executive functioning (i.e., planning) abilities in the unscreened cohorts. Adaptive functioning was relatively intact with the exception of reduced Daily Living Skills in both our screened and unscreened groups. Early diagnosis and greater number of hospitalizations were related to higher verbal, communication, and socialization skills. Overall, our results highlight the importance of early diagnosis and management for children with MCADD.
dc.publisher Psychology Press
dc.relation.isbasedon 10.1080/09297040701864570
dc.title Neuropsychological functioning in children with Medium Chain Acyl coenzyme a Dehydrogenase Deficiency (MCADD): The impact of early diagnosis and screening on outcome
dc.type Journal Article
dc.parent Child Neuropsychology
dc.journal.volume 1
dc.journal.volume 15
dc.journal.number 1 en_US
dc.publocation Abingdon, UK en_US
dc.identifier.startpage 8 en_US
dc.identifier.endpage 20 en_US
dc.cauo.name BUS.Centre for Health Economics Research and Evaluation en_US
dc.conference Verified OK en_US
dc.for 1701 Psychology
dc.personcode 020119
dc.percentage 100 en_US
dc.classification.name Psychology en_US
dc.classification.type FOR-08 en_US
dc.edition en_US
dc.custom en_US
dc.date.activity en_US
dc.location.activity en_US
dc.description.keywords Neuropsychology; Pediatric; Medium chain acyl coenzyme A dehydrogenase deficiency; Cognitive outcome; Early diagnosis en_US
dc.description.keywords Neuropsychology
dc.description.keywords Pediatric
dc.description.keywords Medium chain acyl coenzyme A dehydrogenase deficiency
dc.description.keywords Cognitive outcome
dc.description.keywords Early diagnosis
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
utslib.collection.history Closed (ID: 3)
utslib.collection.history Uncategorised (ID: 363)


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