TY - JOUR
T1 - Assessing the quality and value of metabolic chart data for capturing core outcomes for pediatric medium-chain acyl-CoA dehydrogenase (MCAD) deficiency
AU - Iverson, Ryan
AU - Taljaard, Monica
AU - Geraghty, Michael T.
AU - Pugliese, Michael
AU - Tingley, Kylie
AU - Coyle, Doug
AU - Kronick, Jonathan B.
AU - Wilson, Kumanan
AU - Austin, Valerie
AU - Brunel-Guitton, Catherine
AU - Buhas, Daniela
AU - Butcher, Nancy J.
AU - Chan, Alicia K. J.
AU - Dyack, Sarah
AU - Goobie, Sharan
AU - Greenberg, Cheryl R.
AU - Jain-Ghai, Shailly
AU - Inbar-Feigenberg, Michal
AU - Karp, Natalya
AU - Kozenko, Mariya
AU - Langley, Erica
AU - Lines, Matthew
AU - Little, Julian
AU - MacKenzie, Jennifer
AU - Maranda, Bruno
AU - Mercimek-Andrews, Saadet
AU - Mhanni, Aizeddin
AU - Mitchell, John J.
AU - Nagy, Laura
AU - Offringa, Martin
AU - Pender, Amy
AU - Potter, Murray
AU - Prasad, Chitra
AU - Ratko, Suzanne
AU - Salvarinova, Ramona
AU - Schulze, Andreas
AU - Siriwardena, Komudi
AU - Sondheimer, Neal
AU - Sparkes, Rebecca
AU - Stockler-Ipsiroglu, Sylvia
AU - Tapscott, Kendra
AU - Trakadis, Yannis
AU - Turner, Lesley
AU - van Karnebeek, Clara
AU - Vandersteen, Anthony
AU - Walia, Jagdeep S.
AU - Wilson, Brenda J.
AU - Yu, Andrea C.
AU - Potter, Beth K.
AU - Chakraborty, Pranesh
N1 - Publisher Copyright: © 2024, The Author(s).
PY - 2024/12/1
Y1 - 2024/12/1
N2 - 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.
AB - 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.
KW - Core outcome set
KW - Data quality
KW - MCAD deficiency
UR - http://www.scopus.com/inward/record.url?scp=85182188247&partnerID=8YFLogxK
U2 - https://doi.org/10.1186/s12887-023-04393-4
DO - https://doi.org/10.1186/s12887-023-04393-4
M3 - Article
C2 - 38216926
SN - 1471-2431
VL - 24
JO - BMC Pediatrics
JF - BMC Pediatrics
IS - 1
M1 - 37
ER -