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