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1.
BMC Pediatr ; 21(1): 296, 2021 07 01.
Artigo em Inglês | MEDLINE | ID: mdl-34210267

RESUMO

BACKGROUND: Newborn screening (NBS) for sickle cell disease incidentally identifies heterozygous carriers of hemoglobinopathy mutations. In Ontario, Canada, these carrier results are not routinely disclosed, presenting an opportunity to investigate the potential health implications of carrier status. We aimed to compare rates of health services use among children identified as carriers of hemoglobinopathy mutations and those who received negative NBS results. METHODS: Eligible children underwent NBS in Ontario from October 2006 to March 2010 and were identified as carriers or as screen-negative controls, matched to carriers 5:1 based on neighbourhood and timing of birth. We used health care administrative data to determine frequencies of inpatient hospitalizations, emergency department (ED) visits, and physician encounters through March 2012, using multivariable negative binomial regression to compare rates of service use in the two cohorts. We analyzed data from 4987 carriers and 24,935 controls. RESULTS: Adjusted incidence rate ratios (95% CI) for service use in carriers versus controls among children < 1 year of age were: 1.11 (1.06-1.17) for ED visits; 0.97 (0.89-1.06) for inpatient hospitalization; and 1.02 (1.00-1.04) for physician encounters. Among children ≥1 year of age, adjusted rate ratios were: 1.03 (0.98-1.07) for ED visits; 1.14 (1.03-1.25) for inpatient hospitalization and 0.92 (0.90-0.94) for physician encounters. CONCLUSIONS: While we identified statistically significant differences in health services use among carriers of hemoglobinopathy mutations relative to controls, effect sizes were small and directions of association inconsistent across age groups and health service types. Our findings are consistent with the assumption that carrier status is likely benign in early childhood.


Assuntos
Anemia Falciforme , Triagem Neonatal , Anemia Falciforme/diagnóstico , Anemia Falciforme/epidemiologia , Anemia Falciforme/genética , Criança , Pré-Escolar , Estudos de Coortes , Serviço Hospitalar de Emergência , Serviços de Saúde , Hospitalização , Humanos , Recém-Nascido , Mutação , Ontário/epidemiologia
2.
BMC Pediatr ; 15: 7, 2015 Feb 13.
Artigo em Inglês | MEDLINE | ID: mdl-25886474

RESUMO

BACKGROUND: Improvements in health care for children with chronic diseases must be informed by research that emphasizes outcomes of importance to patients and families. To support a program of research in the field of rare inborn errors of metabolism (IEM), we conducted a broad scoping review of primary studies that: (i) focused on chronic pediatric diseases similar to IEM in etiology or manifestations and in complexity of management; (ii) reported patient- and/or family-oriented outcomes; and (iii) measured these outcomes using self-administered tools. METHODS: We developed a comprehensive review protocol and implemented an electronic search strategy to identify relevant citations in Medline, EMBASE, DARE and Cochrane. Two reviewers applied pre-specified criteria to titles/abstracts using a liberal accelerated approach. Articles eligible for full-text review were screened by two independent reviewers with discrepancies resolved by consensus. One researcher abstracted data on study characteristics, patient- and family-oriented outcomes, and self-administered measures. Data were validated by a second researcher. RESULTS: 4,118 citations were screened with 304 articles included. Across all included reports, the most-represented diseases were diabetes (35%), cerebral palsy (23%) and epilepsy (18%). We identified 43 unique patient- and family-oriented outcomes from among five emergent domains, with mental health outcomes appearing most frequently. The studies reported the use of 405 independent self-administered measures of these outcomes. CONCLUSIONS: Patient- and family-oriented research investigating chronic pediatric diseases emphasizes mental health and appears to be relatively well-developed in the diabetes literature. Future research can build on this foundation while identifying additional outcomes that are priorities for patients and families.


Assuntos
Serviços de Saúde da Criança/normas , Doença Crônica/terapia , Avaliação de Resultados em Cuidados de Saúde , Assistência Centrada no Paciente/normas , Criança , Família , Humanos
3.
Genet Med ; 15(6): 415-22, 2013 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-23222662

RESUMO

Across all areas of health care, decision makers are in pursuit of what Berwick and colleagues have called the "triple aim": improving patient experiences with care, improving health outcomes, and managing health system impacts. This is challenging in a rare disease context, as exemplified by inborn errors of metabolism. There is a need for evaluative outcomes research to support effective and appropriate care for inborn errors of metabolism. We suggest that such research should consider interventions at both the level of the health system (e.g., early detection through newborn screening, programs to provide access to treatments) and the level of individual patient care (e.g., orphan drugs, medical foods). We have developed a practice-based evidence framework to guide outcomes research for inborn errors of metabolism. Focusing on outcomes across the triple aim, this framework integrates three priority themes: tailoring care in the context of clinical heterogeneity; a shift from "urgent care" to "opportunity for improvement"; and the need to evaluate the comparative effectiveness of emerging and established therapies. Guided by the framework, a new Canadian research network has been established to generate knowledge that will inform the design and delivery of health services for patients with inborn errors of metabolism and other rare diseases.


Assuntos
Gerenciamento Clínico , Erros Inatos do Metabolismo , Avaliação de Resultados em Cuidados de Saúde , Prática Clínica Baseada em Evidências , Humanos , Erros Inatos do Metabolismo/diagnóstico , Erros Inatos do Metabolismo/terapia
4.
Orphanet J Rare Dis ; 14(1): 70, 2019 03 22.
Artigo em Inglês | MEDLINE | ID: mdl-30902101

RESUMO

BACKGROUND: We describe early health services utilization for children diagnosed with medium-chain acyl-CoA dehydrogenase (MCAD) deficiency through newborn screening in Ontario, Canada, relative to a screen negative comparison cohort. METHODS: Eligible children were identified via newborn screening between April 1, 2006 and March 31, 2010. Age-stratified rates of physician encounters, emergency department (ED) visits and inpatient hospitalizations to March 31, 2012 were compared using incidence rate ratios (IRR) and incidence rate differences (IRD). We used negative binomial regression to adjust IRRs for sex, gestational age, birth weight, socioeconomic status and rural/urban residence. RESULTS: Throughout the first few years of life, children with MCAD deficiency (n = 40) experienced statistically significantly higher rates of physician encounters, ED visits, and hospital stays compared with the screen negative cohort. The highest rates of ED visits and hospitalizations in the MCAD deficiency cohort occurred from 6 months to 2 years of age (ED use: 2.1-2.5 visits per child per year; hospitalization: 0.5-0.6 visits per child per year), after which rates gradually declined. CONCLUSIONS: This study confirms that young children with MCAD deficiency use health services more frequently than the general population throughout the first few years of life. Rates of service use in this population gradually diminish after 24 months of age.


Assuntos
Acil-CoA Desidrogenase/deficiência , Mau Uso de Serviços de Saúde/estatística & dados numéricos , Erros Inatos do Metabolismo Lipídico/epidemiologia , Erros Inatos do Metabolismo Lipídico/terapia , Peso ao Nascer , Pré-Escolar , Estudos de Coortes , Serviço Hospitalar de Emergência/estatística & dados numéricos , Feminino , Idade Gestacional , Hospitalização/estatística & dados numéricos , Humanos , Lactente , Recém-Nascido , Erros Inatos do Metabolismo Lipídico/diagnóstico , Masculino , Triagem Neonatal , Ontário/epidemiologia , Características de Residência , Fatores Socioeconômicos
5.
Orphanet J Rare Dis ; 11: 12, 2016 Feb 03.
Artigo em Inglês | MEDLINE | ID: mdl-26841949

RESUMO

BACKGROUND: There is no consensus in the literature regarding the impact of false positive newborn screening results on early health care utilization patterns. We evaluated the impact of false positive newborn screening results for medium-chain acyl-CoA dehydrogenase deficiency (MCADD) in a cohort of Ontario infants. METHODS: The cohort included all children who received newborn screening in Ontario between April 1, 2006 and March 31, 2010. Newborn screening and diagnostic confirmation results were linked to province-wide health care administrative datasets covering physician visits, emergency department visits, and inpatient hospitalizations, to determine health service utilization from April 1, 2006 through March 31, 2012. Incidence rate ratios (IRRs) were used to compare those with false positive results for MCADD to those with negative newborn screening results, stratified by age at service use. RESULTS: We identified 43 infants with a false positive newborn screening result for MCADD during the study period. These infants experienced significantly higher rates of physician visits (IRR: 1.42) and hospitalizations (IRR: 2.32) in the first year of life relative to a screen negative cohort in adjusted analyses. Differences in health services use were not observed after the first year of life. CONCLUSIONS: The higher use of some health services among false positive infants during the first year of life may be explained by a psychosocial impact of false positive results on parental perceptions of infant health, and/or by differences in underlying health status. Understanding the impact of false positive newborn screening results can help to inform newborn screening programs in designing support and education for families. This is particularly important as additional disorders are added to expanded screening panels, yielding important clinical benefits for affected children but also a higher frequency of false positive findings.


Assuntos
Acil-CoA Desidrogenase/deficiência , Erros Inatos do Metabolismo Lipídico/genética , Acil-CoA Desidrogenase/genética , Criança , Pré-Escolar , Estudos de Coortes , Feminino , Custos de Cuidados de Saúde/estatística & dados numéricos , Hospitalização/economia , Humanos , Recém-Nascido , Masculino , Triagem Neonatal , Ontário
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