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

被引：0

作者：

Iverson, Ryan ^{[1
]}

Taljaard, Monica ^{[1
,2
]}

Geraghty, Michael T. ^{[3
,4
]}

Pugliese, Michael ^{[1
]}

Tingley, Kylie ^{[1
]}

Coyle, Doug ^{[1
]}

Kronick, Jonathan B. ^{[5
]}

Wilson, Kumanan ^{[1
,2
,6
,7
]}

Austin, Valerie ^{[5
]}

Brunel-Guitton, Catherine ^{[8
]}

Buhas, Daniela ^{[9
]}

Butcher, Nancy J. ^{[10
]}

Chan, Alicia K. J. ^{[11
]}

Dyack, Sarah ^{[12
]}

Goobie, Sharan ^{[12
]}

Greenberg, Cheryl R. ^{[13
]}

Jain-Ghai, Shailly ^{[11
]}

Inbar-Feigenberg, Michal ^{[5
]}

Karp, Natalya ^{[14
]}

Kozenko, Mariya ^{[15
]}

Langley, Erica ^{[3
,4
]}

Lines, Matthew ^{[16
]}

Little, Julian ^{[1
]}

MacKenzie, Jennifer ^{[15
,17
]}

Maranda, Bruno ^{[18
]}

Mercimek-Andrews, Saadet ^{[5
]}

Mhanni, Aizeddin ^{[13
]}

Mitchell, John J. ^{[9
]}

Nagy, Laura ^{[5
]}

Offringa, Martin ^{[10
]}

Pender, Amy ^{[15
]}

Potter, Murray ^{[15
]}

Prasad, Chitra ^{[14
]}

Ratko, Suzanne ^{[14
]}

Salvarinova, Ramona ^{[19
]}

Schulze, Andreas ^{[5
]}

Siriwardena, Komudi ^{[11
]}

Sondheimer, Neal ^{[5
]}

Sparkes, Rebecca ^{[20
]}

Stockler-Ipsiroglu, Sylvia ^{[19
]}

Tapscott, Kendra ^{[19
]}

Trakadis, Yannis ^{[9
]}

Turner, Lesley ^{[17
]}

Van Karnebeek, Clara ^{[19
,21
]}

Vandersteen, Anthony ^{[12
]}

Walia, Jagdeep S. ^{[22
]}

Wilson, Brenda J. ^{[17
]}

Yu, Andrea C. ^{[3
,4
]}

Potter, Beth K. ^{[1
]}

Chakraborty, Pranesh ^{[3
,4
,23
]}

机构：

[1] Univ Ottawa, Sch Epidemiol & Publ Hlth, Ottawa, ON, Canada

[2] Ottawa Hosp, Res Inst, Clin Epidemiol Program, Ottawa, ON, Canada

[3] Childrens Hosp Eastern Ontario, Dept Pediat, 401 Smyth Rd, Ottawa, ON K1H 8L1, Canada

[4] Univ Ottawa, 401 Smyth Rd, Ottawa, ON K1H 8L1, Canada

[5] Univ Toronto, Hosp Sick Children, Toronto, ON, Canada

[6] Bruyere Res Inst, Ottawa, ON, Canada

[7] Univ Ottawa, Dept Med, Ottawa, ON, Canada

[8] Ctr Hosp Univ Ste Justine, Montreal, PQ, Canada

[9] McGill Univ, Hlth Ctr, Montreal, PQ, Canada

[10] Univ Toronto, Hosp Sick Children, Res Inst, Toronto, ON, Canada

[11] Univ Alberta, Stollery Childrens Hosp, Dept Med Genet, Edmonton, AB, Canada

[12] Dalhousie Univ, IWK Hlth Ctr, Halifax, NS, Canada

[13] Univ Manitoba, Hlth Sci Ctr Winnipeg, Winnipeg, MB, Canada

[14] Western Univ, London Hlth Sci Ctr, London, ON, Canada

[15] McMaster Childrens Hosp, Hamilton, ON, Canada

[16] McMaster Univ, Hamilton Hlth Sci Ctr, Hamilton, ON, Canada

[17] Mem Univ, Janeway Childrens Hosp, St John, NF, Canada

[18] Univ Sherbrooke, CIUSSSE CHUS, Sherbrooke, PQ, Canada

[19] Univ British Columbia, BC Childrens Hosp, Vancouver, BC, Canada

[20] Univ Calgary, Alberta Childrens Hosp, Calgary, AB, Canada

[21] Univ Amsterdam, Med Ctr, Emma Ctr Personalized Med, Amsterdam, Netherlands

[22] Queens Univ, Kingston Hlth Sci, Kingston, ON, Canada

[23] Newborn Screening Ontario, Ottawa, ON, Canada

来源：

BMC PEDIATRICS | 2024年 / 24卷 / 01期

基金：

加拿大健康研究院;

关键词：

MCAD deficiency; Core outcome set; Data quality; ACID OXIDATION DISORDERS; L-CARNITINE; COENZYME; EPIDEMIOLOGY; EXERCISE; CHILDREN;

D O I：

10.1186/s12887-023-04393-4

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

BackgroundGenerating 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.MethodsWe 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.ResultsThe 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.ConclusionsOpportunities 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.

引用

页数：13

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