#apaperaday: Assessing the Benefits and Harms Associated with Early Diagnosis from the Perspective of Parents with Multiple Children Diagnosed with Duchenne Muscular Dystrophy

In today’s #apaperaday, Prof. Aartsma-Rus reads and comments on the paper titled:  Assessing the Benefits and Harms Associated with Early Diagnosis from the Perspective of Parents with Multiple Children Diagnosed with Duchenne Muscular Dystrophy

A pick from Bhattacharyya et al from @MDPIOpenAccess International Journal of Neonatal Screening on the benefits and harms of early diagnosis as perceived by parents of children with Duchenne. Doi 10.3390/ijns10020032

I read this paper on the way to Dubai for the #TREATNMD masterclass and it turned out to be relevant for a returning discussion at the masterclass: Newborn Screening for Duchenne yes or no? Authors outline that there are currently 8 drugs approved in the USA for Duchenne.

Earlier intervention leads to larger therapeutic effects and as such newborn screening efforts are piloted in some US states. Without newborn screening diagnosis occurs at 4.1 years which means a delay in care and treatment initiation.

To assess whether there are benefits or harms related to earlier diagnosis authors did a questionnaire with 45 parents of 2 patients with Duchenne where one (generally the second child) was diagnosed earlier (4.3 years and 2.6 years).

The patients who were diagnosed earlier also started therapy earlier and participated in trials earlier and used supportive and interventive services earlier and more frequently. Parents saw the extra time to prepare and make decisions about treatments as a benefit.

However, they did outline that the earlier diagnosis also was associated with increased worry. Parents noted that earlier treatment resulted in better response when comparing their children.

Overall they were positive about knowing earlier despite extra worry & anxiety at a time when they could not yet act. To quote Filippo Buccella “it is never a good time to hear your child has Duchenne, but knowing allows you to prepare and make decisions and be a better parent”.

Nice work. Note that a diagnosis at age 1-3 is not the same as newborn screening diagnosis where the time to start interventions will be longer. From the masterclass it became clear that parents want to know soon when they start worrying about symptoms.