Assessing the quality and value of metabolic chart data for capturing core outcomes for pediatric medium-chain acyl-CoA dehydrogenase (MCAD) deficiency

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dc.contributor.authorIverson, Ryan
dc.contributor.authorTaljaard, Monica
dc.contributor.authorGeraghty, Michael T.
dc.contributor.authorPugliese, Michael
dc.contributor.authorTingley, Kylie
dc.contributor.authorCoyle, Doug
dc.contributor.authorKronick, Jonathan B.
dc.contributor.authorWilson, Kumanan
dc.contributor.authorAustin, Valerie
dc.contributor.authorBrunel-Guitton, Catherine
dc.contributor.authorBuhas, Daniela
dc.contributor.authorButcher, Nancy J.
dc.contributor.authorChan, Alicia K. J.
dc.contributor.authorDyack, Sarah
dc.contributor.authorGoobie, Sharan
dc.contributor.authorGreenberg, Cheryl R.
dc.contributor.authorJain-Ghai, Shailly
dc.contributor.authorInbar-Feigenberg, Michal
dc.contributor.authorKarp, Natalya
dc.contributor.authorKozenko, Mariya
dc.contributor.authorLangley, Erica
dc.contributor.authorLines, Matthew
dc.contributor.authorLittle, Julian
dc.contributor.authorMacKenzie, Jennifer
dc.contributor.authorMaranda, Bruno
dc.contributor.authorMercimek-Andrews, Saadet
dc.contributor.authorMhanni, Aizeddin
dc.contributor.authorMitchell, John J.
dc.contributor.authorNagy, Laura
dc.contributor.authorOffringa, Martin
dc.contributor.authorPender, Amy
dc.contributor.authorPotter, Murray
dc.contributor.authorPrasad, Chitra
dc.contributor.authorRatko, Suzanne
dc.contributor.authorSalvarinova, Ramona
dc.contributor.authorSchulze, Andreas
dc.contributor.authorSiriwardena, Komudi
dc.contributor.authorSondheimer, Neal
dc.contributor.authorSparkes, Rebecca
dc.contributor.authorStockler-Ipsiroglu, Sylvia
dc.contributor.authorTapscott, Kendra
dc.contributor.authorTrakadis, Yannis
dc.contributor.authorTurner, Lesley
dc.contributor.authorVan Karnebeek, Clara
dc.contributor.authorVandersteen, Anthony
dc.contributor.authorWalia, Jagdeep S.
dc.contributor.authorWilson, Brenda J.
dc.contributor.authorYu, Andrea C.
dc.contributor.authorPotter, Beth K.
dc.contributor.authorChakraborty, Pranesh
dc.date.accessioned2024-01-14T01:02:57Z
dc.date.available2024-01-14T01:02:57Z
dc.date.issued2024-01-13
dc.date.updated2024-01-14T01:02:57Z
dc.description.abstractAbstract Background Generating rigorous evidence to inform care for rare diseases requires reliable, sustainable, and longitudinal measurement of priority outcomes. Having developed a core outcome set for pediatric medium-chain acyl-CoA dehydrogenase (MCAD) deficiency, we aimed to assess the feasibility of prospective measurement of these core outcomes during routine metabolic clinic visits. Methods We used existing cohort data abstracted from charts of 124 children diagnosed with MCAD deficiency who participated in a Canadian study which collected data from birth to a maximum of 11 years of age to investigate the frequency of clinic visits and quality of metabolic chart data for selected outcomes. We recorded all opportunities to collect outcomes from the medical chart as a function of visit rate to the metabolic clinic, by treatment centre and by child age. We applied a data quality framework to evaluate data based on completeness, conformance, and plausibility for four core MCAD outcomes: emergency department use, fasting time, metabolic decompensation, and death. Results The frequency of metabolic clinic visits decreased with increasing age, from a rate of 2.8 visits per child per year (95% confidence interval, 2.3–3.3) among infants 2 to 6 months, to 1.0 visit per child per year (95% confidence interval, 0.9–1.2) among those ≥ 5 years of age. Rates of emergency department visits followed anticipated trends by child age. Supplemental findings suggested that some emergency visits occur outside of the metabolic care treatment centre but are not captured. Recommended fasting times were updated relatively infrequently in patients’ metabolic charts. Episodes of metabolic decompensation were identifiable but required an operational definition based on acute manifestations most commonly recorded in the metabolic chart. Deaths occurred rarely in these patients and quality of mortality data was not evaluated. Conclusions Opportunities to record core outcomes at the metabolic clinic occur at least annually for children with MCAD deficiency. Methods to comprehensively capture emergency care received at outside institutions are needed. To reduce substantial heterogeneous recording of core outcome across treatment centres, improved documentation standards are required for recording of recommended fasting times and a consensus definition for metabolic decompensations needs to be developed and implemented.
dc.identifier.citationBMC Pediatrics. 2024 Jan 13;24(1):37
dc.identifier.urihttps://doi.org/10.1186/s12887-023-04393-4
dc.identifier.urihttps://hdl.handle.net/1880/117955
dc.language.rfc3066en
dc.rights.holderThe Author(s)
dc.titleAssessing the quality and value of metabolic chart data for capturing core outcomes for pediatric medium-chain acyl-CoA dehydrogenase (MCAD) deficiency
dc.typeJournal Article
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