New Research Shows Strong Support for Muscular Dystrophy Screening in Newborns

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by Kara Elam |

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Duchenne gene therapy

Researchers from the University of Pittsburgh recently released key findings from a study which may hold important implications for novel therapies designed to treat patients with Duchenne muscular dystrophy (DMD).

The study, “Twenty-Year Follow-Up of Newborn Screening for Patients with Muscular Dystrophy,” was published in the journal Muscle & Nerve, and shows both patients and their parents strongly support newborn screening programs for DMD and Becker muscular dystrophy (BMD).

Newborn screening programs are state-specific health initiatives that are used to identify conditions that impact a child’s long-term health. According to the Centers for Disease Control and Prevention, millions of babies in the U.S. are routinely screened for certain genetic, endocrine, and metabolic disorders, using a few drops of blood from the newborn’s heel.

To understand the impact of early detection of DMD or BMD on patients and their families as a result of newborn screening, researchers examined the attitudes held by DMD and BMD patients and their parents who were identified by the early screening. These patients were compared to another group of age-matched patients who were identified by the traditional diagnostic process after symptom onset, usually around age 5.

Both groups completed a survey that asked questions in three identical categories that included demographics, newborn screening, and quality of life. Patients identified by newborn screening also completed a fourth section about their experience with the screening.

After scoring, researchers found the following:

  • All patients and most parents supported newborn screening for DMD and BMD;
  • The non-newborn screening cohort felt that diagnosis by newborn screening would cause anxiety;
  • There was strong support of newborn screening for DMD and BMD in both patients and their parents in families who received a diagnosis through newborn screening and through traditional diagnostics;
  • No negative psychosocial impacts of newborn screening were identified among those families who received a diagnosis through the early screening.

“There have been promising developments in therapy for DMD that may be enhanced by the earlier diagnosis that [newborn screening] allows, thus offering the ultimate potential to ameliorate the disease process,” the authors concluded. “Our study shows strong support for newborn screening in DMD and BMD from families who underwent the process 20 years earlier, and we did not identify any negative psychosocial impacts of [the screening] on the young men whose DMD or BMD diagnosis was determined by newborn screening, or on their parents.”