Journal article
Parental perspectives on the diagnostic process for Duchenne and Becker muscular dystrophy
American journal of medical genetics. Part A, Vol.161A(4), pp.687-695
04/01/2013
DOI: 10.1002/ajmg.a.35810
PMID: 23494880
Abstract
Duchenne and Becker muscular dystrophy (DBMD) are allelic, X-linked recessive, neuromuscular disorders characterized by progressive loss of muscle function. Despite technological advances in diagnostic genetic testing, the mean age at diagnosis (4.7 years) has remained unchanged for decades. The purpose of the study was to characterize parental perceptions of the diagnostic process and identify factors that influence the timeline. Data collection for this qualitative study consisted of six individual and five group interviews. Participants (N=30) included Hispanic, non-Hispanic black, and non-Hispanic white parents whose son was diagnosed with DBMD. The help-seeking behavior model provided an analytical framework to analyze the data. Parents did not move through help-seeking stages unidirectionally as described in other studies. Delays existed at each stage. We identified personal, familial, social, cultural, and provider factors that impeded earlier diagnosis. These barriers prolonged movement through a stage or led families to repeat previous stages. Results should initiate debate among system administrators, patient advocates, and healthcare providers regarding which barriers may be most modifiable and which interventions may reduce the time to diagnosis and limit parental emotional distress. (c) 2013 Wiley Periodicals, Inc.
Details
- Title: Subtitle
- Parental perspectives on the diagnostic process for Duchenne and Becker muscular dystrophy
- Creators
- Sandra Daack-Hirsch - University of Iowa, Fraternal Order of Eagles Diabetes Research CenterCaleb Holtzer - Univ Arizona, Dept Pediat, Tucson, AZ 85721 USAChristopher Cunniff - Univ Arizona, Dept Pediat, Tucson, AZ 85721 USA
- Resource Type
- Journal article
- Publication Details
- American journal of medical genetics. Part A, Vol.161A(4), pp.687-695
- Publisher
- WILEY
- DOI
- 10.1002/ajmg.a.35810
- PMID
- 23494880
- ISSN
- 1552-4825
- eISSN
- 1552-4833
- Number of pages
- 9
- Grant note
- MM-1064-09/09 / Centers for Disease Control and Prevention (CDC)
- Language
- English
- Date published
- 04/01/2013
- Academic Unit
- Nursing; Fraternal Order of Eagles Diabetes Research Center; Public Policy Center (Archive)
- Record Identifier
- 9983557236802771
Metrics
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