title: The impact of congenital and childhood myotonic dystrophy on quality of life: a qualitative study of associated symptoms.
abstract: This study systematically evaluated the symptoms associated with congenital and childhood myotonic dystrophy, and how these symptoms affect health related quality of life. We conducted interviews with patients affected by congenital or childhood myotonic dystrophy and their affected parent to identify which symptoms have the greatest effect on their lives. Each interview was recorded, coded, and analyzed using a qualitative framework technique. In 34 interviews with 13 parents and 21 patients, we identified 189 symptoms, representing 22 themes in physical, emotional, social, and disease-specific quality of life. Communication difficulties, cognitive impairment, and social role limitations were the most frequently identified themes. These interviews identified multiple themes and symptoms, some previously under-recognized, which play a key role in the disease burden associated with congenital and childhood myotonic dystrophy.
authors.affiliation: Department of Neurology, The University of Rochester, Rochester, NY, USA Nicholas_johnson@urmc.rochester.edu.
authors.forename: Nicholas E
authors.initials: NE
authors.lastname: Johnson
authors.affiliation: Department of Neurology, The University of Rochester, Rochester, NY, USA.
authors.forename: Elizabeth
authors.initials: E
authors.lastname: Luebbe
authors.affiliation: Department of Neurology, The University of Rochester, Rochester, NY, USA.
authors.forename: Eileen
authors.initials: E
authors.lastname: Eastwood
authors.affiliation: Community and Preventative Medicine, The University of Rochester, Rochester, NY, USA.
authors.forename: Nancy
authors.initials: N
authors.lastname: Chin
authors.affiliation: Department of Neurology, The University of Rochester, Rochester, NY, USA.
authors.forename: Richard T
authors.initials: RT
authors.lastname: Moxley
authors.affiliation: Department of Neurology, The University of Rochester, Rochester, NY, USA.
authors.forename: Chad R
authors.initials: CR
authors.lastname: Heatwole
mesh_terms: D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D008297:Male; D009223:Myotonic Dystrophy / Q000523:psychology*; D010287:Parent-Child Relations; D010290:Parents / Q000523:psychology; D011788:Quality of Life / Q000523:psychology*
keywords: congenital myotonic dystrophy; disease burden; neuromuscular disorders; quality of life; symptoms