title: Parental Reflections on the Diagnostic Process for Duchenne Muscular Dystrophy: A Qualitative Study.
abstract: Duchenne muscular dystrophy (DMD) is a rare neuromuscular disease with no known cure. We sought to update over 30 years of research reporting on the diagnostic delays in DMD.
  
  
  
  Through personal interviews, this study qualitatively explored parents' experiences regarding receipt of the DMD diagnosis and the guidance for care provided. Thematic analysis identified themes and provided answers to the research questions being addressed.
  
  
  
  Four themes emerged: (a) Dismissive illustrates little consideration of parent concern in the diagnostic process; (b) Limited Knowledge describes misunderstandings about clinical signs, recommended screenings, and testing to achieve a diagnosis of DMD; (c) Careless Delivery reports on the manner in which the diagnosis was given; and (d) Lack of Guidance describes the follow-up that occurred after the diagnosis.
  
  
  
  Despite marked medical progress over the past several decades, substantial barriers to arriving at the diagnosis of DMD and the provision of care guidance remain.
authors.forename: Roxanna M
authors.initials: RM
authors.lastname: Bendixen
authors.forename: Amy
authors.initials: A
authors.lastname: Houtrow
mesh_terms: D000328:Adult; D001291:Attitude of Health Personnel; D002675:Child, Preschool; D003144:Communication Barriers; D003657:Decision Making; D003695:Delivery of Health Care / Q000592:standards; D042241:Early Diagnosis; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D020388:Muscular Dystrophy, Duchenne / Q000175:diagnosis* / Q000523:psychology*; D010290:Parents / Q000523:psychology*; D010817:Physician-Patient Relations; D036301:Qualitative Research; D035583:Rare Diseases / Q000175:diagnosis / Q000523:psychology; D012017:Referral and Consultation / Q000706:statistics & numerical data; D012944:Social Support; D014481:United States
keywords: Clinical decision-making; delayed diagnosis; neuromuscular disorder; parent-report; rare disease