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Assessment and Development of Educational Resources for Hajdu-Cheney Syndrome

Bombal, Elizabeth (2022) Assessment and Development of Educational Resources for Hajdu-Cheney Syndrome. Master's Thesis, University of Pittsburgh. (Unpublished)

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Hajdu-Cheney Syndrome (HCS) is a rare, hereditary connective tissue disorder which causes osteoporosis and acro-osteolysis, among other symptoms. As this condition affects fewer than 100 individuals, it is not well studied and has few available patient-centered educational resources. Most online educational materials about HCS use complex terminology and none consistently cover the same information about HCS.
This study aimed to create a comprehensive, understandable resource for patients and families impacted by HCS by assessing current resources and surveying an online patient support group. The first part of this study assessed five online HCS educational materials for readability and content. Evaluated resources were written at 9th grade to college graduate reading levels, above the nationally recommended 6-8th grade reading level. Additionally, the resources were reviewed for five content areas. Resources varied widely in areas of content covered and most resources did not contain all areas that were assessed. Further, only two resources provided links for patient support.
Next, individuals and their family members were surveyed to elicit their experiences learning about HCS and their preferences regarding format and content for a HCS specific educational resource. The survey was distributed through a private HCS Facebook support group and a total of 29 individuals responded to the survey. All respondents reported using the internet to find information about HCS at some point. Eleven participants continue to look online for information about HCS at least once a month. Participants also reported relying on geneticists, genetic counselors, other healthcare professionals, scientific articles, and other affected individuals to get information.
Based on survey responses, a fact sheet was drafted including information about the cause, inheritance, features, and management of HCS. This study is significant to public health because although rare diseases are individually rare, they cumulatively affect millions of individuals. The development of clear, readable educational resources can promote better understanding of a diagnosis, which can increase feelings of empowerment and inform health care decisions for these many individuals.


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Item Type: University of Pittsburgh ETD
Status: Unpublished
CreatorsEmailPitt UsernameORCID
Bombal, Elizabethelb173@pitt.eduelb173
ETD Committee:
TitleMemberEmail AddressPitt UsernameORCID
Thesis AdvisorGrubs, Robin E.rgrubs@pitt.edurgrubs
Committee MemberBohnert,
Committee MemberFelter, Elizabeth M.EMFELTER@pitt.eduemfelter
Date: 30 August 2022
Date Type: Publication
Defense Date: 21 June 2022
Approval Date: 30 August 2022
Submission Date: 5 August 2022
Access Restriction: No restriction; Release the ETD for access worldwide immediately.
Number of Pages: 99
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: Evaluating online education materials for patients with a rare disorder
Date Deposited: 30 Aug 2022 12:52
Last Modified: 30 Aug 2022 12:52


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