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Measurements of Motor Function and Other Clinical Outcome Parameters in Ambulant Children with Duchenne Muscular Dystrophy
Published on: January 12, 2019
Parental attitudes toward newborn screening for Duchenne/Becker muscular dystrophy and spinal muscular atrophy
Molly F Wood1, Sarah C Hughes, Lauren P Hache
1Department of Neurology, University of Pittsburgh, Pittsburgh, Pennsylvania, USA.
Insights
Parents strongly support including Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), and spinal muscular atrophy (SMA) in newborn screening (NBS). Continued discussion is warranted due to diagnostic and therapeutic advancements.
Area of Science:
- Medical Genetics
- Public Health
- Pediatrics
Background:
- Newborn screening (NBS) panel inclusion decisions should incorporate perspectives of affected families.
- Assessing parent attitudes towards NBS for Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), and spinal muscular atrophy (SMA) is crucial.
Purpose of the Study:
- To evaluate parent support for including DMD, BMD, and SMA in newborn screening panels.
- To identify factors influencing parent attitudes regarding NBS for these neuromuscular disorders.
Main Methods:
- A survey was conducted to gauge attitudes towards NBS for DMD, BMD, and SMA.
- Parental attitudes were compared between families with affected children and expectant parents without a known family history.
Main Results:
- Over 90% of both parent groups expressed strong support for NBS inclusion of DMD, BMD, and SMA.
- Specifically, 95.9% of parents with affected children and 92.6% of expectant parents supported NBS for these conditions.
Conclusions:
- There is substantial parental support for the inclusion of DMD, BMD, and SMA in newborn screening.
- Ongoing advancements in diagnostics and therapeutics necessitate continued dialogue on expanding NBS panels for these conditions.
Introduction:
Disease inclusion in the newborn screening (NBS) panel should consider the opinions of those most affected by the outcome of screening. We assessed the level and factors that affect parent attitudes regarding NBS panel inclusion of Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), and spinal muscular atrophy (SMA).
Methods:
The attitudes toward NBS for DMD, BMD, and SMA were surveyed and compared for 2 categories of parents, those with children affected with DMD, BMD, or SMA and expectant parents unselected for known family medical history.
Results:
The level of support for NBS for DMD, BMD, and SMA was 95.9% among parents of children with DMD, BMD, or SMA and 92.6% among expectant parents.
Conclusions:
There was strong support for NBS for DMD, BMD, and SMA in both groups of parents. Given advances in diagnostics and promising therapeutic approaches, discussion of inclusion in NBS should continue.
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