Parental perspectives on the diagnostic process for Duchenne and Becker muscular dystrophy

Sandra Daack-Hirsch, Caleb Holtzer, Christopher M Cunniff

Research output: Contribution to journalArticle

3 Citations (Scopus)

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.

Original languageEnglish (US)
Pages (from-to)687-695
Number of pages9
JournalAmerican Journal of Medical Genetics, Part A
Volume161
Issue number4
DOIs
StatePublished - Apr 2013

Fingerprint

Duchenne Muscular Dystrophy
Parents
Genetic Testing
Administrative Personnel
Nuclear Family
Hispanic Americans
Health Personnel
Early Diagnosis
Interviews
Muscles
Help-Seeking Behavior
TimeLine

Keywords

  • Help-seeking behavior model
  • Muscular dystrophy
  • Parental perspectives

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Parental perspectives on the diagnostic process for Duchenne and Becker muscular dystrophy. / Daack-Hirsch, Sandra; Holtzer, Caleb; Cunniff, Christopher M.

In: American Journal of Medical Genetics, Part A, Vol. 161, No. 4, 04.2013, p. 687-695.

Research output: Contribution to journalArticle

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