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Comparing Psychosocial Impacts of Spinal Muscular Atrophy Diagnoses Before and After Newborn Screening Implementation

Breeze, Ariel Ann (2023) Comparing Psychosocial Impacts of Spinal Muscular Atrophy Diagnoses Before and After Newborn Screening Implementation. Master's Thesis, University of Pittsburgh. (Unpublished)

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Spinal muscular atrophy (SMA), a progressive neuromuscular condition, was recently added to state newborn screening (NBS) panels. While families have been found to support NBS for SMA, most studies have examined families’ opinions regarding program implementation as opposed to the diagnostic process. The aims of this study were to examine the psychosocial impact of receiving a diagnosis of SMA, experiences with the healthcare system, and opinions on NBS. The goal was to identify gaps in support and ways that healthcare providers can improve outcomes for families by examining differences in those who were diagnosed before and after NBS for SMA. Seven semi-structured interviews were conducted with parents and caregivers of children with SMA to explore perspectives of the diagnostic odyssey. Through inductive thematic analysis with semantic identification, six overarching themes emerged: (1) communicating diagnosis and management: recommendations for healthcare providers, (2) navigating uncertainty: understanding and addressing informational needs, (3) finding community: importance of seeking support and becoming advocates, (4) processing change: evolving expectations for a child’s future, (5) feeling overwhelmed: initial parental experiences following their child’s diagnosis, and (6) experiencing loss: coping with guilt and the loss of expectations for a healthy child. Participants whose children were diagnosed via NBS discussed issues related to uncertainty and feelings of being overwhelmed more frequently compared to those whose children were diagnosed symptomatically. Given the psychosocial impact affected families have described, it is critical that genetic counselors take an active role in the discussion of NBS results and SMA diagnoses. Genetic counselors can provide psychological support and accurate information about genetic conditions in a manner which will positively impact families. They are also in a unique position to collaborate with primary care providers to ensure that families are receiving accurate information about NBS-related conditions at multiple timepoints, therefore maximizing satisfaction and minimizing psychosocial harm. This project benefits the public health sector by identifying key roles for genetic counselors to play in not discussing health problems with the community but also by informing, educating, and empowering individuals.


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Item Type: University of Pittsburgh ETD
Status: Unpublished
CreatorsEmailPitt UsernameORCID
Breeze, Ariel Annaab191@pitt.eduaab191
ETD Committee:
TitleMemberEmail AddressPitt UsernameORCID
Thesis AdvisorBohnert, Kelseykelsey.bohnert@chp.edukmb304
Committee MemberAbdel-Hamid, Hodahoda.abdel-hamid@chp.eduhza1
Committee MemberGrubs, Robinrgrubs@pitt.edurgrubs
Date: 28 June 2023
Date Type: Publication
Defense Date: 12 June 2023
Approval Date: 28 June 2023
Submission Date: 21 June 2023
Access Restriction: No restriction; Release the ETD for access worldwide immediately.
Number of Pages: 109
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: spinal muscular atrophy, SMA, newborn screening, NBS, families, psychosocial impact, healthcare provider recommendations, diagnostic odyssey, genetic counseling support, readability, Spinraza, Zolgensma, Evrysdi
Date Deposited: 28 Jun 2023 14:19
Last Modified: 28 Jun 2023 14:19


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