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Service utilization by propionic acidemia patients

Jacquart, Amanda (2014) Service utilization by propionic acidemia patients. Master's Thesis, University of Pittsburgh. (Unpublished)

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Propionic acidemia (PA) is a rare inborn error of metabolism (IBEM) identifiable by newborn screening (NBS). PA patients have variable clinical presentations and neonatal symptomology can be severe and potentially life threatening. Longitudinal data is being collected to learn more about the natural history of PA and current management of these patients. As care recommendations are being developed, it is important to understand patients’ service utilization and current unmet needs.

This study describes the PA patient data from the Inborn Errors of Metabolism Information System (IBEM-IS), a database created to follow patients with conditions detected or detectable by NBS. Data from 46 PA subjects and 137 visits entered into IBEM-IS were analyzed for anticipated needs of PA patients based on the clinical spectrum and current published practice guidelines. Analysis of PA data in IBEM-IS revealed that the majority of the desired variables were absent. Thus, precise determination of service utilization by PA patients remains incomplete. There remains a need for comprehensive, uniform data collection and more detailed assessment of patients.

The original design of the study incorporated an interview of parents/guardians of PA patients to identify current service utilization for comparison to aggregate data in IBEM-IS. Due to recruitment challenges, two of three aims of this study were not achieved. The difficulties experienced with recruitment and collaborative work with a multi-center consortium are discussed.

This analysis of PA patient data in IBEM-IS augments the database and promotes future research studies. Learning more about service utilization and parents’ perceived unmet needs for PA patients may also have implications for a broader group of IBEM identifiable by NBS. Further, the need to prove efficacy of NBS, as a public health program intended to decrease morbidity and mortality, can be supported by this analysis of outcomes and patients needs in those identified by NBS and those identified clinically. The improved long-term care and follow up resulting from focused research on current practices and needs in these patients will impact many individuals and their families.


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Item Type: University of Pittsburgh ETD
Status: Unpublished
CreatorsEmailPitt UsernameORCID
ETD Committee:
TitleMemberEmail AddressPitt UsernameORCID
Thesis AdvisorWalsh Vockley,
Committee MemberGrubs, Robinrgrubs@pitt.eduRGRUBS
Committee MemberWilson, Johnwilson@nsabp.pitt.eduJWW
Date: 27 June 2014
Date Type: Publication
Defense Date: 4 April 2014
Approval Date: 27 June 2014
Submission Date: 22 April 2014
Access Restriction: No restriction; Release the ETD for access worldwide immediately.
Number of Pages: 148
Institution: University of Pittsburgh
Schools and Programs: School of Public Health > Genetic Counseling
Degree: MS - Master of Science
Thesis Type: Master's Thesis
Refereed: Yes
Uncontrolled Keywords: propionic acidemia patients service utilization IBEMC IBEMIS newborn screening NBS
Date Deposited: 27 Jun 2014 21:37
Last Modified: 15 Nov 2016 14:19


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