eprintid: 12038
rev_number: 19
userid: 722
dir: disk0/00/01/20/38
datestamp: 2012-07-02 13:42:58
lastmod: 2016-11-15 13:57:57
status_changed: 2012-07-02 13:42:58
type: thesis_degree
succeeds: 11666
metadata_visibility: show
contact_email: mollyfwood@gmail.com
item_issues_id: duplicate_title_11666
item_issues_id: thesis_degree_versioning
item_issues_type: duplicate_title
item_issues_type: thesis_degree_versioning
item_issues_description: Duplicate title to Wood, Molly Parental Attitudes Toward Newborn Screening for Duchenne/Becker Muscular Dystrophy and Spinal Muscular Atrophy. Master's Thesis, University of Pittsburgh.
item_issues_description: ETD 12038 is using versioning.
item_issues_timestamp: 2012-04-28 06:10:41
item_issues_timestamp: 2013-09-11 17:48:09
item_issues_status: autoresolved
item_issues_status: discovered
item_issues_count: 1
eprint_status: archive
creators_name: Wood, Molly
creators_email: mfw20@pitt.edu
creators_id: MFW20
title: Parental Attitudes Toward Newborn Screening for Duchenne/Becker Muscular Dystrophy and Spinal Muscular Atrophy
ispublished: unpub
divisions: sch_gsph_infectiousdiseasesmicrobiology
full_text_status: public
keywords: duchenne becker muscular dystrophy spinal muscular atrophy DMD BMD SMA parent attitudes newborn screen screening NBS
abstract: A sensitive and specific screen for Duchenne muscular dystrophy (DMD) has been clinically confirmed, but the acceptability of adding DMD to the newborn screening (NBS) program has been controversial due to a lack of evidence that early diagnosis improves clinical outcome. With promising new gene therapies currently in clinical trials, it is reasonable to consider NBS for DMD for early pharmaceutical intervention. It is our objective to assess parents’ attitudes toward the acceptability of including DMD, the milder and allelic Becker muscular dystrophy (BMD), and spinal muscular atrophy (SMA) in the NBS panel, as well as to determine which factors (early diagnosis, family planning, parent-child bonding, anxiety, decision regret, time to prepare) are the most influential in parents’ opinions.
Methods: Two cohorts were recruited separately and surveyed about their attitudes toward NBS for DMD/BMD/SMA. Expectant parents were recruited with no regard to family history, and their opinions were compared to those of parents of children with DMD, BMD, or SMA.
Results: Of the 65 parents of children with DMD, BMD, or SMA that were surveyed, 63 (97%) supported NBS for DMD/BMD/SMA, either as a mandatory screen or with parental permission. Of the 400 expectant parents surveyed, 369 (92.5%) would have their child screened at birth for an incurable, life-shortening disease such as DMD/BMD/SMA. Expectant parents, especially those who would choose to have their child screened, viewed the benefits of early diagnosis (58.9%) as the most influential factor in their decision.
Conclusions: There is strong support for NBS for DMD/BMD/SMA in both cohorts, which is not contingent on further therapeutic development. The consideration of including non-treatable diseases in NBS should include consideration of parental opinions on the beneficence of screening. Although there is currently no direct medical benefit to early diagnosis in DMD/BMD/SMA, parents responded that early diagnosis could have other, less tangible benefits. Parental opinions, along with promising clinical trials, make the implementation of an optional screen ideal for DMD, BMD, and SMA.
Public Health Importance: NBS is the foremost intersection of genetics and public health. It is imperative to involve public opinion when assessing the acceptability of adding a potentially controversial disease to a standard panel.
date: 2012-07-02
date_type: published
pages: 108
institution: University of Pittsburgh
refereed: TRUE
etdcommittee_type: thesis_advisor
etdcommittee_type: committee_member
etdcommittee_type: committee_member
etdcommittee_type: committee_member
etdcommittee_name: Clemens, Paula
etdcommittee_name: Grubs, Robin
etdcommittee_name: Gettig, Elizabeth
etdcommittee_name: Barmada, M. Michael
etdcommittee_email: clempr@upmc.edu
etdcommittee_email: rgrubs@pitt.edu
etdcommittee_email: bgettig@pitt.edu
etdcommittee_email: barmada@pitt.edu
etdcommittee_id:
etdcommittee_id: RGRUBS
etdcommittee_id: BGETTIG
etdcommittee_id: BARMADA
etd_defense_date: 2012-04-06
etd_approval_date: 2012-07-02
etd_submission_date: 2012-04-03
etd_release_date: 2012-07-02
etd_access_restriction: 1_year
etd_patent_pending: FALSE
assigned_doi: doi:10.5195/pitt.etd.2012.11666
thesis_type: thesis
degree: MS
citation: Wood, Molly (2012) Parental Attitudes Toward Newborn Screening for Duchenne/Becker Muscular Dystrophy and Spinal Muscular Atrophy. Master's Thesis, University of Pittsburgh. (Unpublished)
document_url: http://d-scholarship-dev.library.pitt.edu/12038/1/MWood_ETD_2012.pdf