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Assessing the quality and value of metabolic chart data for capturing core outcomes for pediatric medium-chain acyl-CoA dehydrogenase (MCAD) deficiency.
Iverson, Ryan; Taljaard, Monica; Geraghty, Michael T; Pugliese, Michael; Tingley, Kylie; Coyle, Doug; Kronick, Jonathan B; Wilson, Kumanan; Austin, Valerie; Brunel-Guitton, Catherine; Buhas, Daniela; Butcher, Nancy J; Chan, Alicia K J; Dyack, Sarah; Goobie, Sharan; Greenberg, Cheryl R; Jain-Ghai, Shailly; Inbar-Feigenberg, Michal; Karp, Natalya; Kozenko, Mariya; Langley, Erica; Lines, Matthew; Little, Julian; MacKenzie, Jennifer; Maranda, Bruno; Mercimek-Andrews, Saadet; Mhanni, Aizeddin; Mitchell, John J; Nagy, Laura; Offringa, Martin; Pender, Amy; Potter, Murray; Prasad, Chitra; Ratko, Suzanne; Salvarinova, Ramona; Schulze, Andreas; Siriwardena, Komudi; Sondheimer, Neal; Sparkes, Rebecca; Stockler-Ipsiroglu, Sylvia; Tapscott, Kendra; Trakadis, Yannis; Turner, Lesley; Van Karnebeek, Clara; Vandersteen, Anthony; Walia, Jagdeep S; Wilson, Brenda J; Yu, Andrea C; Potter, Beth K; Chakraborty, Pranesh.
Afiliação
  • Iverson R; School of Epidemiology and Public Health, University of Ottawa, Ottawa, Canada.
  • Taljaard M; School of Epidemiology and Public Health, University of Ottawa, Ottawa, Canada.
  • Geraghty MT; Clinical Epidemiology Program, Ottawa Hospital Research Institute, Ottawa, Canada.
  • Pugliese M; Department of Pediatrics, Children's Hospital of Eastern Ontario and University of Ottawa, 401 Smyth Road, Ottawa, ON, K1H 8L1, Canada.
  • Tingley K; School of Epidemiology and Public Health, University of Ottawa, Ottawa, Canada.
  • Coyle D; School of Epidemiology and Public Health, University of Ottawa, Ottawa, Canada.
  • Kronick JB; School of Epidemiology and Public Health, University of Ottawa, Ottawa, Canada.
  • Wilson K; The Hospital for Sick Children/University of Toronto, Toronto, Canada.
  • Austin V; School of Epidemiology and Public Health, University of Ottawa, Ottawa, Canada.
  • Brunel-Guitton C; Clinical Epidemiology Program, Ottawa Hospital Research Institute, Ottawa, Canada.
  • Buhas D; Bruyère Research Institute, Ottawa, Canada.
  • Butcher NJ; Department of Medicine, University of Ottawa, Ottawa, Canada.
  • Chan AKJ; The Hospital for Sick Children/University of Toronto, Toronto, Canada.
  • Dyack S; Le Centre Hospitalier Universitaire Ste-Justine, Montreal, Canada.
  • Goobie S; McGill University Health Centre, Montreal, Canada.
  • Greenberg CR; The Hospital for Sick Children Research Institute/University of Toronto, Toronto, Canada.
  • Jain-Ghai S; Department of Medical Genetics, University of Alberta/Stollery Children's Hospital, Edmonton, Canada.
  • Inbar-Feigenberg M; IWK Health Centre/Dalhousie University, Halifax, Canada.
  • Karp N; IWK Health Centre/Dalhousie University, Halifax, Canada.
  • Kozenko M; Health Sciences Centre Winnipeg/University of Manitoba, Winnipeg, Canada.
  • Langley E; Department of Medical Genetics, University of Alberta/Stollery Children's Hospital, Edmonton, Canada.
  • Lines M; The Hospital for Sick Children/University of Toronto, Toronto, Canada.
  • Little J; London Health Sciences Centre/Western University, London, Canada.
  • MacKenzie J; McMaster Children's Hospital, Hamilton, Canada.
  • Maranda B; Department of Pediatrics, Children's Hospital of Eastern Ontario and University of Ottawa, 401 Smyth Road, Ottawa, ON, K1H 8L1, Canada.
  • Mercimek-Andrews S; Hamilton Health Sciences Centre/McMaster University, Hamilton, Canada.
  • Mhanni A; School of Epidemiology and Public Health, University of Ottawa, Ottawa, Canada.
  • Mitchell JJ; McMaster Children's Hospital, Hamilton, Canada.
  • Nagy L; Janeway Children's Hospital/Memorial University, St John's, Canada.
  • Offringa M; CIUSSSE-CHUS, Université de Sherbrooke, Sherbrooke, Canada, Sherbrooke, Canada.
  • Pender A; The Hospital for Sick Children/University of Toronto, Toronto, Canada.
  • Potter M; Health Sciences Centre Winnipeg/University of Manitoba, Winnipeg, Canada.
  • Prasad C; McGill University Health Centre, Montreal, Canada.
  • Ratko S; The Hospital for Sick Children/University of Toronto, Toronto, Canada.
  • Salvarinova R; The Hospital for Sick Children Research Institute/University of Toronto, Toronto, Canada.
  • Schulze A; McMaster Children's Hospital, Hamilton, Canada.
  • Siriwardena K; McMaster Children's Hospital, Hamilton, Canada.
  • Sondheimer N; London Health Sciences Centre/Western University, London, Canada.
  • Sparkes R; London Health Sciences Centre/Western University, London, Canada.
  • Stockler-Ipsiroglu S; BC Children's Hospital/University of British Columbia, Vancouver, Canada.
  • Tapscott K; The Hospital for Sick Children/University of Toronto, Toronto, Canada.
  • Trakadis Y; Department of Medical Genetics, University of Alberta/Stollery Children's Hospital, Edmonton, Canada.
  • Turner L; The Hospital for Sick Children/University of Toronto, Toronto, Canada.
  • Van Karnebeek C; Alberta Children's Hospital/University of Calgary, Calgary, Canada.
  • Vandersteen A; BC Children's Hospital/University of British Columbia, Vancouver, Canada.
  • Walia JS; BC Children's Hospital/University of British Columbia, Vancouver, Canada.
  • Wilson BJ; McGill University Health Centre, Montreal, Canada.
  • Yu AC; Janeway Children's Hospital/Memorial University, St John's, Canada.
  • Potter BK; BC Children's Hospital/University of British Columbia, Vancouver, Canada.
  • Chakraborty P; Emma Center for Personalized Medicine, Amsterdam University Medical Centers, Amsterdam, The Netherlands.
BMC Pediatr ; 24(1): 37, 2024 Jan 13.
Article em En | MEDLINE | ID: mdl-38216926
ABSTRACT

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.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Avaliação de Resultados em Cuidados de Saúde / Erros Inatos do Metabolismo Lipídico Tipo de estudo: Guideline / Observational_studies / Prognostic_studies Limite: Child / Child, preschool / Humans País/Região como assunto: America do norte Idioma: En Ano de publicação: 2024 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Avaliação de Resultados em Cuidados de Saúde / Erros Inatos do Metabolismo Lipídico Tipo de estudo: Guideline / Observational_studies / Prognostic_studies Limite: Child / Child, preschool / Humans País/Região como assunto: America do norte Idioma: En Ano de publicação: 2024 Tipo de documento: Article