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.
