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Updated: Apr 5, 2026
Measurements of Motor Function and Other Clinical Outcome Parameters in Ambulant Children with Duchenne Muscular Dystrophy
Published on: January 12, 2019
Twenty-year follow-up of newborn screening for patients with muscular dystrophy
Jeffrey Chung1, Andrea L Smith1, Sarah C Hughes1
1Department of Neurology, University of Pittsburgh, S520 Biomedical Science Tower, 200 Lothrop Street, Pittsburgh, Pennsylvania, 15213, USA.
Insights
Newborn screening (NBS) for Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) showed strong support from patients and parents. No negative psychosocial impacts were identified in families receiving diagnoses through NBS.
Area of Science:
- Medical Genetics
- Pediatric Neurology
- Public Health
Background:
- An opt-out newborn screening (NBS) program for Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) was implemented in Pittsburgh (1987-1995).
- This study assessed attitudes towards NBS for DMD and BMD among families diagnosed through NBS or traditional methods.
Purpose of the Study:
- To evaluate patient and parent attitudes towards NBS for DMD and BMD.
- To identify potential psychosocial impacts of NBS for these conditions.
Main Methods:
- Surveys were conducted with patients and parents from families diagnosed with DMD or BMD.
- Attitudes towards NBS were assessed in cohorts diagnosed via NBS and traditional diagnostics.
Main Results:
- Overwhelming support for NBS for DMD and BMD was reported by both patients and parents.
- Families diagnosed through traditional methods expressed concerns about potential anxiety from NBS, unlike the NBS cohort.
Conclusions:
- Strong support for NBS for DMD and BMD exists among diagnosed patients and their parents.
- No negative psychosocial effects were observed in families who received a DMD/BMD diagnosis through NBS.
Introduction:
An opt-out newborn screening (NBS) program for Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) was implemented at 2 hospitals in Pittsburgh, Pennsylvania, between 1987 and 1995.
Methods:
For patients and their parents in families who received a diagnosis of DMD or BMD, either by NBS or by traditional diagnostics after symptom onset, attitudes toward NBS for DMD and BMD were assessed.
Results:
All patients and most parents supported NBS for DMD and BMD. In contrast to the NBS parent cohort, the non-NBS cohort felt that diagnosis by NBS would cause anxiety.
Conclusions:
There was strong support of NBS for DMD and BMD in both patients and their parents in families who received a diagnosis through NBS or through traditional diagnostics. No negative psychosocial impacts of NBS were identified among those families who received a diagnosis through NBS.
