How American families affected by Duchenne or Becker muscular dystrophy feel about newborn screening

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In order to better understand the preferences of families regarding newborn screening, a questionnaire was completed by 66 families affected by Duchenne or Becker muscular dystrophy. The results showed that :

  • the average age at diagnosis was four years, with the onset of symptoms at the age of 2.1 years,
  • the first worrying manifestations were difficulties in carrying out physical activities (62%), delays in motor development (48%), enlarged calves (38%) and frequent falls (35%)
  • One third of families indicated that they would prefer to be diagnosed in the neonatal period, regardless of the treatment options available,
  • Of the reluctant families, 93% would choose to have newborn screening if a treatment that works better in the newborn period were available,
  • all families indicated that a diagnosis in the neonatal period would affect life decisions.

 

Diagnostic experiences of Duchenne families and their preferences for newborn screening: A mixed-methods study. Crossnohere NL, Armstrong N, Fischer R, Bridges JFP. Am J Med Genet C Semin Med Genet. 2022 Aug 9.

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