The overall aim of this project is to design and pilot test a surveillance system for low prevalence and high impact congenital and inherited conditions using spina bifida (SB), muscular dystrophy (MD), and fragile X syndrome (FXS) as three representative conditions. We plan to identify existing surveillance systems and sources of data and then implement both a passive and active system in South Carolina and Colorado in Year 1, and add Kansas in Year 2 for this two-year project. We will identify existing local, regional, and national data sources and surveillance systems for the three target conditions, through a review of the literature and through our collaboration with state departments of health, particularly the Birth Defects Monitoring/surveillance programs. After a thorough inventory of programs is identified we will identify gaps and deficiencies in these existing data sources and surveillance systems. After we have learned from existing systems we will develop and execute a plan to integrate all major data sources into a functional surveillance system for the three target conditions simultaneously. The system will include a core module (common elements) and extension modules (condition specific elements). The plan will include a three state approach and it will include an approach to de-duplicate data from multiple sources. We will pilot test the surveillance system and develop a report with recommendations regarding the feasibility of a national surveillance system. The findings will describe the data sources used, barriers encountered in integrating the data sources, and a summary of pilot data including identification of important gaps in information or systems.

Public Health Relevance

The pilot surveillance system will include both active and passive surveillance for spina bifida (SB), muscular dystrophy (MD), and fragile X syndrome (FXS) as three representative rare, inherited conditions. The surveillance will be done in South Carolina, Colorado and Kansas, and the result will be a model that can be replicated throughout the nation.

National Institute of Health (NIH)
Centers for Disease Control and Prevention (NCBDD)
Research Project--Cooperative Agreements (U01)
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Special Emphasis Panel (ZDD1-EEO (03))
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University of South Carolina at Columbia
Family Medicine
Schools of Medicine
United States
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Smith, Michael G; Royer, Julie; Mann, Joshua et al. (2017) Capture-recapture methodology to study rare conditions using surveillance data for fragile X syndrome and muscular dystrophy. Orphanet J Rare Dis 12:76
Smith, Michael G; Royer, Julie; Mann, Joshua R et al. (2017) Using Administrative Data to Ascertain True Cases of Muscular Dystrophy: Rare Disease Surveillance. JMIR Public Health Surveill 3:e2
Reichard, Amanda; McDermott, Suzanne; Ruttenber, Margaret et al. (2016) Testing the Feasibility of a Passive and Active Case Ascertainment System for Multiple Rare Conditions Simultaneously: The Experience in Three US States. JMIR Public Health Surveill 2:e151