RESUMEN
OBJECTIVE: To evaluate the performance of a 2-tiered newborn screening method for mucopolysaccharidosis type I (MPS I) in North Carolina. STUDY DESIGN: The screening algorithm included a flow injection analysis-tandem mass spectrometry assay as a first-tier screening method to measure α-L-iduronidase (IDUA) enzyme activity and Sanger sequencing of the IDUA gene on dried blood spots as a second-tier assay. The screening algorithm was revised to incorporate the Collaborative Laboratory Integrated Reports, an analytical interpretive tool, to reduce the false-positive rate. A medical history, physical examination, IDUA activity, and urinary glycosaminoglycan (GAG) analysis were obtained on all screen-positive infants. RESULTS: A total of 62 734 specimens were screened with 54 screen-positive samples using a cut-off of 15% of daily mean IDUA activity. The implementation of Collaborative Laboratory Integrated Reports reduced the number of specimens that screened positive to 19 infants. Of the infants identified as screen-positive, 1 had elevated urinary GAGs and a homozygous pathogenic variant associated with the severe form of MPS I. All other screen-positive infants had normal urinary GAG analysis; 13 newborns had pseudodeficiency alleles, 3 newborns had variants of unknown significance, and 2 had heterozygous pathogenic variants. CONCLUSIONS: An infant with severe MPS I was identified and referred for a hematopoietic stem cell transplant. Newborn IDUA enzyme deficiency is common in North Carolina, but most are due to pseudodeficiency alleles in infants with normal urinary GAG analysis and no evidence of disease. The pilot study confirmed the need for second-tier testing to reduce the follow-up burden.
Asunto(s)
Mucopolisacaridosis I/diagnóstico , Tamizaje Neonatal , Algoritmos , Dermatán Sulfato/orina , Pruebas Genéticas , Variación Genética , Glicosaminoglicanos/orina , Heparitina Sulfato/orina , Humanos , Iduronidasa/sangre , Iduronidasa/genética , Recién Nacido , Mucopolisacaridosis I/genética , North Carolina , Derivación y Consulta/estadística & datos numéricos , Análisis de Secuencia , Espectrometría de Masas en TándemRESUMEN
This article reports on an evaluation of the Merck Childhood Asthma Network, Inc. (MCAN) initiative using pooled cross-site data on patient-reported outcomes pre- and postintervention to quantify the changes experienced by children in five program sites supported by the network. The results show a consistent pattern of improvement across all measured outcomes, including symptoms, hospital and emergency department use, school absences, and caregiver confidence. Children who started with uncontrolled asthma experienced larger improvements than children with controlled asthma at baseline. However, even considering the significant gains made by children with uncontrolled asthma at baseline, after 12 months, most of the outcomes for these children were significantly worse than the 12-month outcomes for children with controlled asthma at baseline. The evaluation of the MCAN initiative offers a model that can be used in cases where resources must be balanced between evaluation and delivering services to children. The design process and results from the common survey instrument provide information for future initiatives seeking to translate evidence-based interventions in a community-based setting.
Asunto(s)
Asma , Difusión de Innovaciones , Práctica Clínica Basada en la Evidencia , Promoción de la Salud , Evaluación de Resultado en la Atención de Salud/métodos , Asma/tratamiento farmacológico , Niño , Manejo de la Enfermedad , Femenino , Estudios de Seguimiento , Humanos , Masculino , Puerto Rico , Autocuidado , Encuestas y Cuestionarios , Estados UnidosRESUMEN
The Merck Childhood Asthma Network (MCAN) initiative selected five sites (New York City, Puerto Rico, Chicago, Los Angeles, and Philadelphia) to engage in translational research to adapt evidence-based interventions (EBIs) to improve childhood asthma outcomes. The authors summarize the sites' experience by describing criteria defining the fidelity of translation, community contextual factors serving as barriers or enablers to fidelity, types of adaptation conducted, and strategies used to balance contextual factors and fidelity in developing a "best fit" for EBIs in the community. A conceptual model captures important structural and process-related factors and helps frame lessons learned. Site implementers and intervention developers reached consensus on qualitative rankings of the levels of fidelity of implementation for each of the EBI core components: low fidelity, adaptation (major vs. minor), or high fidelity. MCAN sites were successful in adapting core EBI components based on their understanding of structural and other contextual barriers and enhancers in their communities. Although the sites varied regarding both the EBI components they implemented and their respective levels of fidelity, all sites observed improvement in asthma outcomes. Our collective experiences of adapting and implementing asthma EBIs highlight many of the factors affecting translation of evidenced-based approaches to chronic disease management in real community settings.
Asunto(s)
Asma , Redes Comunitarias/organización & administración , Difusión de Innovaciones , Práctica Clínica Basada en la Evidencia , Promoción de la Salud/métodos , Asma/tratamiento farmacológico , Niño , Manejo de la Enfermedad , Humanos , Puerto Rico , Autocuidado , Estados Unidos , Población UrbanaRESUMEN
Successful chronic disease project management, especially of multiyear initiatives using evidence-based interventions (EBIs), is of great importance to funders, health care decision makers, and researchers, particularly in light of limited funding. However, a gap in knowledge may exist regarding which attributes and skills are most desirable in a program manager to help him or her ensure successful implementation of EBIs. Although some literature examines the dynamics contributing to the success of community coalitions, public health leadership, and community health education, there is minimal literature exploring the significance of a program manager's role in the conceptualization, implementation, and sustainability of initiatives to improve patient and community health. The authors present their experiences as participants in a large-scale asthma initiative implemented in priority communities, as well as results of a survey distributed among all personnel of the program sites. The survey aimed to assess the key skills and attributes, in addition to contextual factors, that contribute to the strength of a program manager overseeing EBIs in asthma initiatives. The results suggest that certain attributes and skills are desirable in recruiting and hiring of a program manager, especially when augmented by ongoing skill-building training, and can help ensure program and research success.