A Toolkit to assess health needs for congenital disorders in low- and middle-income countries: an instrument for public health action.

BACKGROUND: In 2010 the World Health Assembly called for action to improve the care and prevention of congenital disorders, noting that technical guidance would be required for this task, especially in low- and middle-income countries. Responding to this call, we have developed a freely available web-accessible Toolkit for assessing health needs for congenital disorders. METHODS: Materials for the Toolkit website (http://toolkit.phgfoundation.org) were prepared by an iterative process of writing, discussion and modification by the project team, with advice from external experts. A customized database was developed using epidemiological, demographic, socio-economic and health-services data from a range of validated sources. Document-processing and data integration software combines data from the database with a template to generate topic- and country-specific Calculator documents for quantitative analysis. RESULTS: The Toolkit guides users through selection of topics (including both clinical conditions and relevant health services), assembly and evaluation of qualitative and quantitative information, assessment of the potential effects of selected interventions, and planning and prioritization of actions to reduce the risk or prevalence of congenital disorders. CONCLUSIONS: The Toolkit enables users without epidemiological or public health expertise to undertake health needs assessment as a prerequisite for strategic planning in relation to congenital disorders in their country or region

Calculation of a Primary Immunodeficiency “Risk Vital Sign” via Population-Wide Analysis of Claims Data to Aid in Clinical Decision Support

Background: Early diagnosis of primary immunodeficiency disease leads to reductions in illness and decreased healthcare costs. Analysis of electronic health record data may allow for identification of persons at risk of host-defense impairments from within the general population. Our hypothesis was that coded infection history would inform individual risk of disease and ultimately lead to diagnosis.Methods: In this study we assessed individual risk for primary immunodeficiency by analyzing diagnostic codes and pharmacy records from members (n = 185,892) of a large pediatric health network. Relevant infection-associated diagnostic codes were weighted and enumerated for individual members allowing for risk score calculations (“Risk Vital Sign”). At-risk individuals underwent further assessment by chart review and re-analysis of diagnostic codes 12 months later.Results: Of the original cohort, 2188 (1.2%) individuals were identified as medium-high-risk for having a primary immunodeficiency. This group included 41 subjects who were ultimately diagnosed with primary immunodeficiency. An additional 57 medium-high risk patients had coded diagnoses worthy of referral.Conclusions: Population-wide informatics approaches can facilitate disease detection and improve outcomes. Early identification of the 98 patients with confirmed or suspected primary immunodeficiency described here could represent an annual cost savings of up to $7.7 million US Dollars

To be or not to be: the importance of attendance in integrated physiology teaching using non-traditional approaches

<p>Abstract</p> <p>Background</p> <p>There is increasing use of non-traditional methods like problem-based learning, team-working and several other active-learning techniques in Physiology teaching. While several studies have investigated the impact of class attendance on the academic performance in traditional teaching, there is limited information regarding whether the new modalities are especially sensible to this factor.</p> <p>Methods</p> <p>Here, we performed a comparative study between a control group receiving information through traditional methods and an experimental group submitted to new methodologies in Physiology teaching.</p> <p>Results</p> <p>We found that while mean examination scores were similar in the control and the experimental groups, a different picture emerge when data are organized according to four categorical attendance levels. In the experimental group, scores were not different between the 1st and the 2nd exams (P = 0.429) nor between the 2nd and the 3^rdexams (P = 0.225) for students that never or poorly attend classes, in contrast to the control group (P < 0.001). A score difference between attending students versus the absentees was maximal in the experimental versus the control group all along the different exams and in the final score.</p> <p>Conclusion</p> <p>We suggest that class attendance is critical for learning using non-traditional methods.</p

Estimating the birth prevalence and pregnancy outcomes of congenital malformations worldwide

Congenital anomaly registries have two main surveillance aims: firstly to define baseline epidemiology of important congenital anomalies to facilitate programme, policy and resource planning, and secondly to identify clusters of cases and any other epidemiological changes that could give early warning of environmental or infectious hazards. However, setting up a sustainable registry and surveillance system is resource-intensive requiring national infrastructure for recording all cases and diagnostic facilities to identify those malformations that that are not externally visible. Consequently, not all countries have yet established robust surveillance systems. For these countries, methods are needed to generate estimates of prevalence of these disorders which can act as a starting point for assessing disease burden and service implications. Here, we describe how registry data from high-income settings can be used for generating reference rates that can be used as provisional estimates for countries with little or no observational data on non-syndromic congenital malformations

The Economic Resource Receipt of New Mothers

U.S. federal policies do not provide a universal social safety net of economic support for women during pregnancy or the immediate postpartum period but assume that employment and/or marriage will protect families from poverty. Yet even mothers with considerable human and marital capital may experience disruptions in employment, earnings, and family socioeconomic status postbirth. We use the National Survey of Families and Households to examine the economic resources that mothers with children ages 2 and younger receive postbirth, including employment, spouses, extended family and social network support, and public assistance. Results show that many new mothers receive resources postbirth. Marriage or postbirth employment does not protect new mothers and their families from poverty, but education, race, and the receipt of economic supports from social networks do

Methods to estimate access to care and the effect of interventions on the outcomes of congenital disorders

In the absence of intervention, early-onset congenital disorders lead to pregnancy loss, early death, or disability. Currently, lack of epidemiological data from many settings limits the understanding of the burden of these conditions, thus impeding health planning, policy-making, and commensurate resource allocation. The Modell Global Database of Congenital Disorders (MGDb) seeks to meet this need by combining general biological principles with observational and demographic data, to generate estimates of the burden of congenital disorders. A range of interventions along the life course can modify adverse outcomes associated with congenital disorders. Hence, access to and quality of services available for the prevention and care of congenital disorders affects both their birth prevalence and the outcomes for affected individuals. Information on this is therefore important to enable burden estimates for settings with limited observational data, but is lacking from many settings. This paper, the third in this special issue on methods used in the MGDb for estimating the global burden of congenital disorders, describes key interventions that impact on outcomes of congenital disorders and methods used to estimate their coverage where empirical data are not available

Assessing the Effectiveness of a Performance Evaluation System in the Public Health Care Sector: Some Novel Evidence from the Tuscany Region Experience

Since 80's the introduction of New Public Management principles has promoted the use of performance measurement to drive a more efficient, effective and accountable public sector. The adoption of a sophisticated and comprehensive multidimensional performance measurement system, which looks beyond traditional financial measures, based on organization strategies, such as the balanced scorecard, has thus been suggested. This revolution in the public management came together with the devolution processes that involved most European public health systems. Set within this context, in the last decade, each of the twenty Italian regions developed its own management tools. Among others, the Tuscan performance evaluation system (PES) has been valued as a particularly innovative and comprehensive system. This paper reports the novel experience of the Tuscan PES; in particular, it measures PES effectiveness and discusses the critical factors that could have led to the PES success. Five are the critical success factors identified by researchers: the visual reporting system, the linkage between PES and CEO's reward system, the public disclosure of data, the high level of employees and managers involvement into the entire process and the strong political commitment. All those factors run together to achieve better results; however, the process of development of the system plays a pivotal role. Scholars suggest the use of a constructive approach in order to gain effective changes in human organization. According to this stream of literature, this paper contributes by the novel experience of the Tuscan PES in addressing as a further fruitful application of the constructivist approach in healthcare

Addressing key issues in the consanguinity-related risk of autosomal recessive disorders in consanguineous communities: lessons from a qualitative study of British Pakistanis

Currently there is no consensus regarding services required to help families with consanguineous marriages manage their increased genetic reproductive risk. Genetic services for communities with a preference for consanguineous marriage in the UK remain patchy, often poor. Receiving two disparate explanations of the cause of recessive disorders (cousin marriage and recessive inheritance) leads to confusion among families. Further, the realisation that couples in non-consanguineous relationships have affected children leads to mistrust of professional advice. British Pakistani families at-risk for recessive disorders lack an understanding of recessive disorders and their inheritance. Such an understanding is empowering and can be shared within the extended family to enable informed choice. In a three-site qualitative study of British Pakistanis, we explored family and health professional perspectives on recessively inherited conditions. Our findings suggest, first, that family networks hold strong potential for cascading genetic information, making the adoption of a family centred approach an efficient strategy for this community. However, this is dependent on provision of high quality and timely information from health care providers. Secondly, families’ experience was of ill-coordinated and time-starved services, with few having access to specialist provision from Regional Genetics Services; these perspectives were consistent with health professionals’ views of services. Thirdly, we confirm previous findings that genetic information is difficult to communicate and comprehend, further complicated by the need to communicate the relationship between cousin marriage and recessive disorders. A communication tool we developed and piloted is described and offered as a useful resource for communicating complex genetic information

An international survey of patients with thalassemia major and their views about sustaining life-long desferrioxamine use

BACKGROUND: Management of thalassemia major requires patients to have life-long access to a treatment regimen of regular blood transfusions coupled with iron chelation therapy. The objective of this study was to investigate patients' reasons for missing iron chelation therapy with desferrioxamine, and the support to sustain life-long adherence to treatment. METHODS: From October 1999 to May 2000 a survey of patients with thalassemia major was conducted in ten countries: Cyprus, Egypt, Greece, Hong Kong, India, Iran, Italy, Jordan, Taiwan, and the United States. RESULTS: 1,888 questionnaires (65%) were returned. Most patients (1,573) used desferrioxamine, and 79% administered a dose at least 4 days a week. Inaccessibility of the drug was a common reason for missing a dose in India (51%), and in Iran (25%), whereas, in any other country, it was a reason for less than 17% of patients. Overall, 58% reported reasons for missing a dose related to their beliefs or feelings about the medication, and 42% drug-related side effects. CONCLUSION: Many patients miss doses of desferrioxamine and an opportunity remains to develop interventions that provide more support to sustain use of desferrioxamine